Independent De Novo 22q11.2 Deletions in First Cousins With DiGeorge/Velocardiofacial Syndrome

PubMed Central

Saitta, Sulagna C.; Harris, Stacy E.; McDonald-McGinn, Donna M.; Emanuel, Beverly S.; Tonnesen, Melissa K.; Zackai, Elaine H.; Seitz, Suzanne C.; Driscoll, Deborah A.

2010-01-01

Deletions of chromosome 22q11.2 are found in the vast majority of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). This most frequent microdeletion syndrome is estimated to occur in 1 in 4,000 live births. The majority of deletions are de novo, with 10% or less inherited from an affected parent. Here, we report two separate families with recurrence of a 22q11.2 deletion in first cousins. In each family, unaffected siblings (brother and sister) had an affected child. Fluorescence in situ hybridization (FISH) studies of the parents of each affected child were normal and hence, relatives were not considered at an increased risk for recurrence in another pregnancy. We used highly polymorphic microsatellite repeat markers from within 22q11.2 to determine the parental origin of each cousin’s deletion and to assess whether parental germline mosaicism for the 22q11.2 deletion might be a factor in these cases. This analysis confirmed that in each case, the deletion occurred on a chromosome 22 derived from unrelated parents, consistent with independent de novo deletion events. Thus, we concluded that germline mosaicism as the underlying mechanism for affected cousins in these families was unlikely. Our findings underscore the high frequency with which the 22q11.2 deletion occurs in the general population and demonstrate the important role that PCR-based parental origin determination can have in recurrence risk counselling. Furthermore, relatives of affected individuals may benefit from genetic counselling and consider prenatal testing for the 22q11.2 deletion in future pregnancies, despite a low recurrence risk. PMID:14708107

A Newly Developed Fluorescence Model for C2H6 ν5 and Application to Cometary Spectra Acquired with NIRSPEC at Keck II

NASA Astrophysics Data System (ADS)

Radeva, Yana L.; Mumma, Michael J.; Villanueva, Geronimo L.; A'Hearn, Michael F.

2011-03-01

Accurate rotational temperatures are essential for extracting production rates for parent volatiles in comets. Two strong bands of ethane (ν7 at 2985.39 cm-1 and ν5 at 2895.67 cm-1) are seen in infrared cometary spectra, but the Q-branches of ν7 are not resolved by current instruments and cannot provide an accurate rotational temperature with current models. We developed a fluorescence model for the C2H6 ν5 band that can be used to derive a rotational temperature. We applied our C2H6 ν5 model to high-resolution infrared spectra of the comets C/2004 Q2 Machholz and C/2000 WM1 (LINEAR), acquired with the Near-infrared Echelle Spectrograph on the Keck II telescope. We demonstrate agreement among the rotational temperatures derived from C2H6 ν5 and other species, and between mixing ratios derived from C2H6 ν5 and C2H6 ν7. As a symmetric hydrocarbon, C2H6 is observed only in the infrared, and it is now the fifth molecule (along with H2O, HCN, CO, and H2CO) for which we can derive a reliable rotational temperature from cometary infrared spectra.

[Types of child rearing behavior of parents during early childhood: Q-methodological approach].

PubMed

Park, Sun-Jung; Kang, Kyung-Ah; Kim, Shin-Jeong

2013-08-01

The purpose of this study was to identify the awareness of child rearing among parents of children in early childhood and to provide fundamental data for parent education programs according to child rearing type. Q-methodology which provides a method of analyzing the subjectivity of each item was used. Forty Q items which were derived from a literature review and interviews with nurturing mothers were classified into a normal distribution using a 9-point scale. Collected data were analyzed using the QUANAL PC Program. Four types of parents' child rearing were identified. Type I was named 'affection-respect type', type II, 'concern-rule compliant type', type III, 'solicitude-model type', and type IV, 'geniality-encouragement type'. For proper growth and development during early childhood, parents should have rational information and awareness of their child rearing type. Results of this study can be used as essential data to develop child rearing education programs according to parents' child rearing attitude.

Oral health and 22q11 deletion syndrome: thoughts and experiences from the parents' perspectives.

PubMed

Klingberg, Gunilla; Hallberg, Ulrika; Oskarsdóttir, Sólveig

2010-07-01

22q11 deletion syndrome (22q11DS) is one of the most common multiple anomaly syndromes, and many dentists are likely to meet patients with the syndrome. Odontological research has focused on describing and analysing conditions/concepts based on the current state of knowledge within the dental profession. Yet, these research topics are not necessarily the most important issues for the patients. To explore and describe, by use of Grounded theory, parents' experiences of oral health issues and needs for dental care in their children with 22q11DS. Twelve parents from different regions in Sweden were interviewed. Analyses were carried out according to Grounded theory. Parents recognised good oral health as important for the wellbeing of their children. Oral health was a concern and the parents described the fight for this as struggling in vain for good oral health in their child. Parents not only described their children's oral health as important but also hard to gain. Thus, it is important that all patients with disabilities, regardless of whether there is a defined medical diagnosis or not, are identified and well taken care of in the dental care system.

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

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.

Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?

ERIC Educational Resources Information Center

Angkustsiri, Kathleen; Goodlin-Jones, Beth; Deprey, Lesley; Brahmbhatt, Khyati; Harris, Susan; Simon, Tony J.

2014-01-01

High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation…

[22q11.2 deletion: handicap-related problems and coping strategies of primary caregivers].

PubMed

Briegel, Wolfgang; Schneider, Marco; Schwab, K Otfried

2009-11-01

To investigate handicap-related problems of children and adolescents with 22q11.2 deletion syndrome and their primary caregivers' coping strategies. Primary caregivers of 153 subjects aged 2-16 years were anonymously asked to fill out questionnaires, e.g., the Handicap Related Problems for Parents Inventory. Primary caregivers of 96 subjects (53 males, 43 females; mean age: 7;0 [2;1-16;11] years) sent back questionnaires. Patient's behaviour and discipline were the most important handicap-related problems. Significant correlations could be found between the patient's age and his/her relationship with the primary caregiver (rho=0.228; p=.029) and other family members (rho=0.293; p=.004). Compared to other parents of physically handicapped children or those with multiple handicaps, these parents did not experience increased stress. The more the coping strategies "self-fulfillment" and "intensification of partnership" were used, the lower parental stress was (p=.012, p=.025, respectively). "Focusing on the handicapped child" was positively correlated with high parental stress (p=.000). With regard to parental stress and coping strategies, primary caregivers of children and adolescents with 22q11.2 deletion do not significantly differ from other parents of physically handicapped children. As handicap-related family problems increase with the patient's age, a growing need for counseling, especially for aspects of parenting and discipline, and for treatment can be presumed.

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.

Explaining the variable penetrance of CNVs: Parental intelligence modulates expression of intellectual impairment caused by the 22q11.2 deletion.

PubMed

Klaassen, Petra; Duijff, Sasja; Swanenburg de Veye, Henriëtte; Beemer, Frits; Sinnema, Gerben; Breetvelt, Elemi; Schappin, Renske; Vorstman, Jacob

2016-09-01

The role of rare genetic variants, in particular copy number variants (CNVs), in the etiology of neurodevelopmental disorders is becoming increasingly clear. While the list of these disorder-related CNVs continues to lengthen, it has also become clear that in nearly all genetic variants the proportion of carriers who express the associated phenotype is far from 100%. To understand this variable penetrance of CNVs it is important to realize that even the largest CNVs represent only a tiny fraction of the entire genome. Therefore, part of the mechanism underlying the variable penetrance of CNVs is likely the modulatory impact of the rest of the genome. In the present study we used the 22q11DS as a model to examine whether the observed penetrance of intellectual impairment-one of the main phenotypes associated with 22q11DS-is modulated by the intellectual level of their parents, for which we used the parents' highest level of education as a proxy. Our results, based on data observed in 171 children with 22q11DS in the age range of 5-15 years, showed a significant association between estimated parental cognitive level and intelligence in offspring (full scale, verbal and performance IQ), with the largest effect size for verbal IQ. These results suggest that possible mechanisms involved in the variable penetrance observed in CNVs include the impact of genetic background and/or environmental influences. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

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

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

PubMed Central

Saitta, Sulagna C.; Harris, Stacy E.; Gaeth, Ann P.; Driscoll, Deborah A.; McDonald-McGinn, Donna M.; Maisenbacher, Melissa K.; Yersak, Jill M.; Chakraborty, Prabir K.; Hacker, April M.; Zackai, Elaine H.; Ashley, Terry; Emanuel, Beverly S.

2010-01-01

Chromosome 22q11.2 deletions are found in almost 90% of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). Large, chromosome-specific low copy repeats (LCRs), flanking and within the deletion interval, are presumed to lead to misalignment and aberrant recombination in meiosis resulting in this frequent microdeletion syndrome. We traced the grandparental origin of regions flanking de novo 3 Mb deletions in 20 informative three-generation families. Haplotype reconstruction showed an unexpectedly high number of proximal interchromosomal exchanges between homologs, occurring in 19/20 families. Instead, the normal chromosome 22 in these probands showed interchromosomal exchanges in 2/15 informative meioses, a rate consistent with the genetic distance. Meiotic exchanges, visualized as MLH1 foci, localize to the distal long arm of chromosome 22 in 75% of human spermatocytes tested, also reflecting the genetic map. Additionally, we found no effect of proband gender or parental age on the crossover frequency. Parental origin studies in 65 de novo 3 Mb deletions (including these 20 patients) demonstrated no bias. Unlike Williams syndrome, we found no chromosomal inversions flanked by LCRs in 22 sets of parents of 22q11 deleted patients, or in eight non-deleted patients with a DGS/VCFS phenotype using FISH. Our data are consistent with significant aberrant interchromosomal exchange events during meiosis I in the proximal region of the affected chromosome 22 as the likely etiology for the deletion. This type of exchange occurs more often than is described for deletions of chromosomes 7q11, 15q11, 17p11 and 17q11, implying a difference in the meiotic behavior of chromosome 22. PMID:14681306

Tabulation of comet observations.

NASA Astrophysics Data System (ADS)

1995-07-01

Concerning comets: C/1958 D1 (Burnham), C/1959 Q1 (Alcock), C/1959 Q2 (Alcock), C/1959 Y1 (Burnham), C/1960 Y1 (Candy), C/1961 O1 (Wilson-Hubbard), C/1961 R1 (Humason), C/1961 T1 (Seki), C/1962 H1 (Honda), C/1963 A1 (Ikeya), C/1963 F1 (Alcock), C/1963 R1 (Pereyra), C/1964 N1 (Ikeya), C/1964 P1 (Everhart), C/1966 P1 (Kilston), C/1966 P2 (Barbon), C/1966 R1 (Ikeya-Everhart), C/1966 T1 (Rudnicki), C/1967 Y1 (Ikeya-Seki), C/1968 H1 (Tago-Honda-Yamamoto), C/1968 L1 (Whitaker-Thomas), C/1968 N1 (Honda), C/1968 Q1 (Bally-Clayton), C/1968 Q2 (Honda), C/1968 U1 (Wild), C/1968 Y1 (Thomas), C/1969 O1 (Kohoutek), C/1969 P1 (Fujikawa), C/1969 Y1 (Bennett), C/1970 B1 (Daido-Fujikawa), C/1970 N1 (Abe), C/1970 U1 (Suzuki-Sato-Seki), C/1971 E1 (Toba), C/1972 E1 (Bradfield), C/1972 L1 (Sandage), C/1972 U1 (Kojima), C/1973 A1 (Heck-Sause), C/1973 E1 (Kohoutek), C/1975 T1 (Mori-Sato-Fujikawa), C/1975 T2 (Suzuki-Saigusa-Mori), C/1975 V1 (West), C/1975 V2 (Bradfield), C/1975 X1 (Sato), C/1976 D1 (Bradfield), C/1977 V1 (Tsuchinshan), C/1984 N1 (Austin), C/1987 P1 (Bradfield), C/1988 A1 (Liller), C/1989 Q1 (Okazaki-Levy-Rudenko), C/1989 X1 (Austin), C/1990 E1 (Černis-Kiuchi-Nakamura), C/1990 K1 (Levy), C/1990 N1 (Tsuchiya-Kiuchi), C/1991 A2 (Arai), C/1991 F2 (Helin-Lawrence), C/1991 T2 (Shoemaker-Levy), C/1991 X2 (Mueller), C/1991 Y1 (Zanotta-Brewington), C/1992 F1 (Tanaka-Machholz), C/1992 U1 (Shoemaker), C/1992 W1 (Ohshita), C/1994 J2 (Takamizawa), C/1994 N1 (Nakamura-Nishimura-Machholz), C/1994 T1 (Machholz), 1P/Halley, 2P/Encke, 4P/Faye, 6P/d'Arrest, 8P/Tuttle, 9P/Tempel 1, 10P/Tempel 2, 15P/Finlay, 16P/Brooks 2, 19P/Borrelly, 23P/Brorsen-Metcalf, 24P/Schaumasse, 29P/Schwassmann-Wachmann 1, 31P/Schwassmann-Wachmann 2, 40P/Väisälä 1, 41P/Tuttle-Giacobini-Kresák, 45P/Honda-Mrkos-Pajdušáková, 51P/Harrington, 59P/Kearns-Kwee, 64P/Swift-Gehrels, 65P/Gunn, 71P/Clark, 73P/Schwassmann-Wachmann 3, 75P/Kohoutek, 76P/West-Kohoutek-Ikemura, 77P/Longmore, 78P/Gehrels 2, 85P/Boethin, 95P

Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome

PubMed Central

Allen, T. M.; Hersh, J.; Schoch, K.; Curtiss, K.; Hooper, S. R.; Shashi, V.

2014-01-01

Background Children with 22q11.2 deletion syndrome (22q11DS) are at risk for social-behavioural and neurocognitive sequelae throughout development. The current study examined the impact of family environmental characteristics on social-behavioural and cognitive outcomes in this pediatric population. Method Guardians of children with 22q11DS were recruited through two medical genetics clinics. Con senting guardians were asked to complete several questionnaires regarding their child's social, emotional and behavioural functioning, as well as family social environment and parenting styles. Children with 22q11DS were asked to undergo a cognitive assessment, including IQ and achievement testing, and measures of attention, executive function and memory. Results Modest associations were found between aspects of the family social environment and parenting styles with social-behavioural and cognitive/academic outcomes. Regression models indicated that physical punishment, socioeconomic status, parental control and family organisation significantly predicted social-behavioural and cognitive outcomes in children with 22q11DS. Conclusion Characteristics of the family social environment and parenting approaches appear to be associated with functional outcomes of children with 22q11DS. Understanding the impact of environmental variables on developmental outcomes can be useful in determining more effective targets for intervention. This will be important in order to improve the quality of life of individuals affected by 22q11DS. PMID:23742203

Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome.

PubMed

Allen, T M; Hersh, J; Schoch, K; Curtiss, K; Hooper, S R; Shashi, V

2014-01-01

Children with 22q11.2 deletion syndrome (22q11DS) are at risk for social-behavioural and neurocognitive sequelae throughout development. The current study examined the impact of family environmental characteristics on social-behavioural and cognitive outcomes in this paediatric population. Guardians of children with 22q11DS were recruited through two medical genetics clinics. Consenting guardians were asked to complete several questionnaires regarding their child's social, emotional and behavioural functioning, as well as family social environment and parenting styles. Children with 22q11DS were asked to undergo a cognitive assessment, including IQ and achievement testing, and measures of attention, executive function and memory. Modest associations were found between aspects of the family social environment and parenting styles with social-behavioural and cognitive/academic outcomes. Regression models indicated that physical punishment, socioeconomic status, parental control and family organisation significantly predicted social-behavioural and cognitive outcomes in children with 22q11DS. Characteristics of the family social environment and parenting approaches appear to be associated with functional outcomes of children with 22q11DS. Understanding the impact of environmental variables on developmental outcomes can be useful in determining more effective targets for intervention. This will be important in order to improve the quality of life of individuals affected by 22q11DS. © 2013 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

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.

Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.

PubMed

Ousley, Opal; Evans, A Nichole; Fernandez-Carriba, Samuel; Smearman, Erica L; Rockers, Kimberly; Morrier, Michael J; Evans, David W; Coleman, Karlene; Cubells, Joseph

2017-05-18

22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults ( n = 56) with 22q11.2DS, who were ascertained irrespective of parents' behavioral or developmental concerns, and found that 17.9% ( n = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.

The clinical presentation of attention deficit-hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome.

PubMed

Niarchou, Maria; Martin, Joanna; Thapar, Anita; Owen, Michael J; van den Bree, Marianne B M

2015-12-01

Although attention deficit-hyperactivity disorder (ADHD) is the most prevalent psychiatric disorder in children with 22q11.2DS, it remains unclear whether its clinical presentation is similar to that in children with idiopathic ADHD. The aim of this study is to compare the ADHD phenotype in children with and without 22q11.2DS by examining ADHD symptom scores, patterns of psychiatric comorbidity, IQ and gender distribution. Forty-four children with 22q11.2DS and ADHD (mean age = 9.6), 600 clinic children (mean age = 10.8) and 77 children with ADHD from a population cohort (mean age = 10.8) participated in the study. Psychopathology was assessed using parent-report research diagnostic instruments. There was a higher proportion of females in the 22q11.2DS ADHD sample in relation to the clinical sample (χ(2)  = 18.2, P < 0.001). The 22q11.2DS group showed a higher rate of ADHD inattentive subtype (χ(2)  = 114.76, P < 0.001), and fewer hyperactive-impulsive symptoms compared to the clinical group (z = 8.43, P < 0.001). The 22q11.2DS ADHD group parents reported fewer oppositional defiant disorder/conduct disorder symptoms (z = 6.33, P < 0.001) and a higher rate of generalized anxiety disorder (χ(2)  = 4.56, P = 0.03) in relation to the clinical group. Two percent of the 22q11.2 DS ADHD sample had received ADHD treatment. The results were similar when the 22q11.2 ADHD group was compared to the population cohort ADHD group. The clinical presentation of ADHD and patterns of co-morbidity in 22q11.2DS is different from that in idiopathic ADHD. This could lead to clinical under-recognition of ADHD in this group. Examining psychopathology in 22q11.2DS can provide insights into the genetic origins of psychiatric problems with implications beyond the 22q11.2DS population. © 2015 Wiley Periodicals, Inc.

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

Childhood Predictors of Young Adult Social Functioning in 22q11.2 Deletion Syndrome

ERIC Educational Resources Information Center

Wagner, Kayla E.; Kates, Wendy R.; Fremont, Wanda; Antshel, Kevin M.

2017-01-01

The primary objectives of the current prospective longitudinal study were to (a) describe social functioning outcomes and (b) identify childhood predictors of social functioning in young adults with (22q11.2DS). Childhood predictors of young adult social functioning were examined. Family environment and parental stress in adolescence were…

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.

Q2/Q3 2016 Solar Industry Update

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.

Q2/Q3 2017 Solar Industry Update

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.

Partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31 →qter) presenting with fetal ascites and ventriculomegaly: prenatal diagnosis and array comparative genomic hybridization characterization.

PubMed

Chen, Chih-Ping; Su, Yi-Ning; Young, Richard Shih-Hung; Tsai, Fuu-Jen; Wu, Pei-Chen; Chern, Schu-Rern; Town, Dai-Dyi; Pan, Chen-Wen; Wang, Wayseen

2010-12-01

To present prenatal diagnosis and array comparative genomic hybridization (aCGH) characterization of partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) presenting with fetal ascites and ventriculomegaly in the second trimester. A 31-year-old woman, gravida 2, para 1, was referred to the hospital at 20 weeks of gestation because of fetal ascites. Amniocentesis revealed a derivative chromosome 22. Subsequent parental karyotyping revealed that the father carried a balanced reciprocal translocation between 16p12 and 22q13. Bacterial artificial chromosome-based aCGH using amniocyte DNA demonstrated partial trisomy 16p and partial monosomy 22q [arr cgh 16p13.3p12.2 (CTD-3077J14→RP11-650D5)x3, 22q13.31q13.33 (RP1-111J24→CTD-3035C16)x1]. Oligonucleotide-based aCGH showed a 20.9-Mb duplication of distal 16p and an approximate 3.7-Mb deletion of distal 22q. Level II ultrasound revealed fetal ascites and ventriculomegaly. The pregnancy was terminated and a malformed male fetus was delivered with craniofacial dysmorphism and abnormalities of the digits. The fetal karyotype was 46,XY,der(22)t(16;22)(p12.2;q13.31)pat. The paternal karyotype was 46,XY,t(16;22)(p12.2;q13.31). Partial trisomy 16p can be associated with fetal ascites and ventriculomegaly in the second trimester. Prenatal sonographic detection of fetal ascites in association with ventriculomegaly should alert chromosomal abnormalities and prompt cytogenetic investigation, which may lead to the identification of an unexpected parental translocation involving chromosomal segments associated with cerebral and vascular abnormalities. Copyright © 2010 Taiwan Association of Obstetric & Gynecology. Published by Elsevier B.V. All rights reserved.

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.

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.

Pediatric nurses' differentiations between acceptable and unacceptable parent discipline behaviors: a Q-study.

PubMed

Ho, Grace W K; Gross, Deborah A

2015-01-01

Nurses are mandated to report suspected cases of child maltreatment. However, it is unclear how nurses decide what constitutes child abuse or evidence for reporting. It is crucial to examine how nurses define various forms of child maltreatment, including child abuse and its differentiation from physical discipline, to enhance our services to families with young children. The present study examined pediatric nurses' views on acceptable versus unacceptable discipline behaviors to better understand parent behaviors that nurses are likely to deem reportable to child protective services. Using Q methodology, a convenience sample of 48 pediatric nurses from one urban medical center sorted 71 statements related to the behavior or outcome of punishing a child via the Internet application FlashQ. The statements were sorted on a predefined continuum ranging from "Most Unacceptable" to "Most Acceptable." By-person factor analysis was used to uncover groups of nurses with similar sorts and to generate a unique sort that represented the viewpoint of nurses in that group. Two distinct viewpoints were uncovered. Although there was consensus on what constitutes most acceptable and most unacceptable parent behaviors, nurses varied on their endorsement of using physical force as a form of discipline, suggesting a potential for discrepant tendencies to identify and report child abuse. Copyright © 2015 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

PubMed Central

Delio, Maria; Guo, Tingwei; McDonald-McGinn, Donna M.; Zackai, Elaine; Herman, Sean; Kaminetzky, Mark; Higgins, Anne Marie; Coleman, Karlene; Chow, Carolyn; Jarlbrzkowski, Maria; Bearden, Carrie E.; Bailey, Alice; Vangkilde, Anders; Olsen, Line; Olesen, Charlotte; Skovby, Flemming; Werge, Thomas M.; Templin, Ludivine; Busa, Tiffany; Philip, Nicole; Swillen, Ann; Vermeesch, Joris R.; Devriendt, Koen; Schneider, Maude; Dahoun, Sophie; Eliez, Stephan; Schoch, Kelly; Hooper, Stephen R.; Shashi, Vandana; Samanich, Joy; Marion, Robert; van Amelsvoort, Therese; Boot, Erik; Klaassen, Petra; Duijff, Sasja N.; Vorstman, Jacob; Yuen, Tracy; Silversides, Candice; Chow, Eva; Bassett, Anne; Frisch, Amos; Weizman, Abraham; Gothelf, Doron; Niarchou, Maria; van den Bree, Marianne; Owen, Michael J.; Suñer, Damian Heine; Andreo, Jordi Rosell; Armando, Marco; Vicari, Stefano; Digilio, Maria Cristina; Auton, Adam; Kates, Wendy R.; Wang, Tao; Shprintzen, Robert J.; Emanuel, Beverly S.; Morrow, Bernice E.

2013-01-01

Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genotyped a total of 389 DNA samples from 22q11DS-affected families. A total of 219 (56%) individuals with 22q11DS had maternal origin and 170 (44%) had paternal origin of the de novo deletion, which represents a statistically significant bias for maternal origin (p = 0.0151). Combined with many smaller, previous studies, 465 (57%) individuals had maternal origin and 345 (43%) had paternal origin, amounting to a ratio of 1.35 or a 35% increase in maternal compared to paternal origin (p = 0.000028). Among 1,892 probands with the de novo 22q11.2 deletion, the average maternal age at time of conception was 29.5, and this is similar to data for the general population in individual countries. Of interest, the female recombination rate in the 22q11.2 region was about 1.6–1.7 times greater than that for males, suggesting that for this region in the genome, enhanced meiotic recombination rates, as well as other as-of-yet undefined 22q11.2-specific features, could be responsible for the observed excess in maternal origin. PMID:23453669

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

[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

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.

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.

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.

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

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.

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

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.

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...

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...

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...

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...

A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease.

PubMed

Wang, D; Ren, G F; Zhang, H Z; Yi, C Y; Peng, Z J

2016-12-02

Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. High-resolution chromosome analysis to detect copy number variations was carried out using an Affymetrix microarray platform, and the genes affected by the patient's deletion, including IHH, were determined. However, no copy number changes were observed in his healthy parents. The present case exhibited novel syndactyly features, broadening the spectrum of clinical findings observed in individuals with 2q interstitial deletions. Our data, together with previous observations, suggest that IHH haploinsufficiency is the principal pathogenic factor in the syndactyly phenotype in this study, and that different types of variations at the IHH locus may cause divergent disease phenotypes. This is the first report of the involvement of IHH haploinsufficiency in syndactyly phenotype.

Meteoroid Streams from Sunskirter Comet Breakup

NASA Astrophysics Data System (ADS)

Jenniskens, P. M.

2012-12-01

In its first year of operations, the CAMS project (Cameras for Allsky Meteor Surveillance) has measured 47,000 meteoroid orbits at Earth, including some that pass the Sun as close as 0.008 AU. The population density increases significantly above perihelion distance q = 0.037 AU. Meteoroid streams are known with q about 0.1 AU. The Sun has a profound effect on comets that pass at 0.04-0.16 AU distance, called the sunskirter comets. SOHO and STEREO see families of small comets called the Marsden and Kracht groups. Sunlight is efficiently scattered by small 10-m sized fragments, making those fragments visible even when far from Earth. These comet groups are associated with meteor showers on Earth, in particular the Daytime Arietids and Delta Aquariids. All are related to 96P/Machholz, a highly inclined short-period (5.2 year) Jupiter family comet that comes to within 0.12 AU from the Sun, the smallest perihelion distance known among numbered comets. The proximity of the Sun speeds up the disintegration process, providing us a unique window on this important decay mechanism of Jupiter family comets and creating meteoroid streams. These are not the only sunskirting comets, however. In this presentation, we will present CAMS observations of the complete low-q meteoroid population at Earth and review their association with known parent bodies.

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.

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.

Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.

PubMed

Picinelli, Chiara; Lintas, Carla; Piras, Ignazio Stefano; Gabriele, Stefano; Sacco, Roberto; Brogna, Claudia; Persico, Antonio Maria

2016-12-01

Rare and common CNVs can contribute to the etiology of neurodevelopmental disorders. One of the recurrent genomic aberrations associated with these phenotypes and proposed as a susceptibility locus is the 15q11.2 BP1-BP2 CNV encompassing TUBGCP5, CYFIP1, NIPA2, and NIPA1. Characterizing by array-CGH a cohort of 243 families with various neurodevelopmental disorders, we identified five patients carrying the 15q11.2 duplication and one carrying the deletion. All CNVs were confirmed by qPCR and were inherited, except for one duplication where parents were not available. The phenotypic spectrum of CNV carriers was broad but mainly neurodevelopmental, in line with all four genes being implicated in axonal growth and neural connectivity. Phenotypically normal and mildly affected carriers complicate the interpretation of this aberration. This variability may be due to reduced penetrance or altered gene dosage on a particular genetic background. We evaluated the expression levels of the four genes in peripheral blood RNA and found the expected reduction in the deleted case, while duplicated carriers displayed high interindividual variability. These data suggest that differential expression of these genes could partially account for differences in clinical phenotypes, especially among duplication carriers. Furthermore, urinary Mg 2+ levels appear negatively correlated with NIPA2 gene copy number, suggesting they could potentially represent a useful biomarker, whose reliability will need replication in larger samples. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2 deletion syndrome.

PubMed

Kelley, L; Sanders, A F P; Beaton, E A

2016-12-01

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex developmental disorder with serious medical, cognitive and emotional symptoms across the lifespan. This genetic deletion also imparts a lifetime risk for developing schizophrenia that is 25-30 times that of the general population. The origin of this risk is multifactorial and may include dysregulation of the stress response and immunological systems in relation to brain development. Vitamin D is involved in brain development and neuroprotection, gene transcription, immunological regulation and influences neuronal signal transduction. Low levels of vitamin D are associated with schizophrenia, depression and anxiety in the general population. Yet, little is known about how vitamin D levels in children with 22q11.2DS could mediate risk of psychosis in adulthood. Blood plasma levels of vitamin D were measured in children aged 7-16 years with (n=11) and without (n=16) 22q11.2DS in relation to parent reports of children's anxiety and atypicality. Anxiety and atypicality in childhood are risk indicators for the development of schizophrenia in those with 22q11.2DS and the general population. Children with 22q11.2DS had lower vitamin D levels, as well as elevated anxiety and atypicality compared with typical peers. Higher levels of anxiety, depression and internalizing problems but not atypicality were associated with lower levels of vitamin D. Vitamin D insufficiency may relate to higher levels of anxiety and depression, in turn contributing to the elevated risk of psychosis in this population. Further study is required to determine casual linkages between anxiety, stress, mood and vitamin D in children with 22q11.2DS.

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.

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.

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.

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.

Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2 deletion syndrome

PubMed Central

Kelley, L.; Sanders, A. F. P.; Beaton, E. A.

2018-01-01

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex developmental disorder with serious medical, cognitive and emotional symptoms across the lifespan. This genetic deletion also imparts a lifetime risk for developing schizophrenia that is 25–30 times that of the general population. The origin of this risk is multifactorial and may include dysregulation of the stress response and immunological systems in relation to brain development. Vitamin D is involved in brain development and neuroprotection, gene transcription, immunological regulation and influences neuronal signal transduction. Low levels of vitamin D are associated with schizophrenia, depression and anxiety in the general population. Yet, little is known about how vitamin D levels in children with 22q11.2DS could mediate risk of psychosis in adulthood. Blood plasma levels of vitamin D were measured in children aged 7–16 years with (n = 11) and without (n = 16) 22q11.2DS in relation to parent reports of children’s anxiety and atypicality. Anxiety and atypicality in childhood are risk indicators for the development of schizophrenia in those with 22q11.2DS and the general population. Children with 22q11.2DS had lower vitamin D levels, as well as elevated anxiety and atypicality compared with typical peers. Higher levels of anxiety, depression and internalizing problems but not atypicality were associated with lower levels of vitamin D. Vitamin D insufficiency may relate to higher levels of anxiety and depression, in turn contributing to the elevated risk of psychosis in this population. Further study is required to determine casual linkages between anxiety, stress, mood and vitamin D in children with 22q11.2DS. PMID:27827293

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.

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...

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

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13

PubMed Central

Leslie, Elizabeth J.; Carlson, Jenna C.; Shaffer, John R.; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A.; Jain, Deepti; Laurie, Cathy C.; Doheny, Kimberly F.; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R.; Neiswanger, Katherine; Lidral, Andrew C.; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Czeizel, Andrew E.; Field, L. Leigh; Padilla, Carmencita D.; Cutiongco-de la Paz, Eva Maria, C.; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G.; Lie, Rolv T.; Wilcox, Allen; Romitti, Paul A.; Castilla, Eduardo E.; Mereb, Juan C.; Poletta, Fernando A.; Orioli, Iêda M.; Carvalho, Flavia M.; Hecht, Jacqueline T.; Blanton, Susan H.; Buxó, Carmen J.; Butali, Azeez; Mossey, Peter A.; Adeyemo, Wasiu L.; James, Olutayo; Braimah, Ramat O.; Aregbesola, Babatunde S.; Eshete, Mekonen A.; Abate, Fikre; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M.; Moreno, Lina; Murray, Jeffrey C.; Marazita, Mary L.

2016-01-01

Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P. As these loci do not account for all of the genetic variance of CL/P, we hypothesized the existence of additional risk loci. We conducted a multiethnic GWAS in 6480 participants (823 unrelated cases, 1700 unrelated controls and 1319 case–parent trios) with European, Asian, African and Central and South American ancestry. Our GWAS revealed novel associations on 2p24 near FAM49A, a gene of unknown function (P = 4.22 × 10−8), and 19q13 near RHPN2, a gene involved in organizing the actin cytoskeleton (P = 4.17 × 10−8). Other regions reaching genome-wide significance were 1p36 (PAX7), 1p22 (ARHGAP29), 1q32 (IRF6), 8q24 and 17p13 (NTN1), all reported in previous GWASs. Stratification by ancestry group revealed a novel association with a region on 17q23 (P = 2.92 × 10−8) among individuals with European ancestry. This region included several promising candidates including TANC2, an oncogene required for development, and DCAF7, a scaffolding protein required for craniofacial development. In the Central and South American ancestry group, significant associations with loci previously identified in Asian or European ancestry groups reflected their admixed ancestry. In summary, we have identified novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs. PMID:27033726

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

N*(1535) electroproduction at high Q2

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.

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++.

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

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.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.}

[Absent or hypoplastic thymus: A marker for 22q11.2 microdeletion syndrome in case of polyhydramnios].

PubMed

Lamouroux, A; Mousty, E; Prodhomme, O; Bigi, N; Le Gac, M-P; Letouzey, V; De Tayrac, R; Mares, P

2016-04-01

In prenatal diagnosis of 22q11.2 microdeletion syndrome, without cardiac malformation or multiple associated congenital anomalies, we study the presence of polyhydramnios and its association with thymic dysgenesis. This was a multicenter retrospective observational study. It was performed in two multidisciplinary centers for prenatal diagnosis in the south of France between January 1, 2010 and June 30, 2013. Inclusion criteria were prenatal diagnosis of 22q11.2 deletion syndrome. We excluded from the study any fetus with cardiac malformation or multiple associated congenital anomalies. During the inclusion period, eleven antenatal diagnoses of 22q11.2 microdeletion syndrome have been made. Six cases were excluded: 5 fetuses with cardiac malformation and one with multiple associated congenital anomalies. Therefore, five cases of isolated polyhydramnios were included. All 5 fetuses had a thymic dysgenesis: 3 had a thymic agenesis and 1 thymic hypoplasia diagnosed by sonography and 1 had a thymic agenesis diagnosed by retrospective reading of fetal MRI. When faced with a polyhydramnios, the presence of a thymic dysgenesis should be search for by ultrasound screening and would alert to the possibility of a 22q11.2 microdeletion syndrome. The confirmation of this is diagnosis by amniocentesis would enable improved antenatal support for parents and would enable early implementation of the multidisciplinary neonatal care that is required to avoid serious complications of this syndrome. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

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

Q-sort assessment vs visual analog scale in the evaluation of smile esthetics.

PubMed

Schabel, Brian J; McNamara, James A; Franchi, Lorenzo; Baccetti, Tiziano

2009-04-01

This study was designed to compare the reliability of the Q-sort and visual analog scale (VAS) methods for the assessment of smile esthetics. Furthermore, agreement between orthodontists and parents of orthodontic patients, and between male and female raters, was assessed in terms of subjective evaluation of the smile. Clinical photographs and digital video captures of 48 orthodontically treated patients were rated by 2 panels: 25 experienced orthodontists (15 men, 10 women) and 20 parents of the patients (8 men, 12 women). Interrater reliability of the Q-sort and VAS methods was evaluated by using single-measure and average-measure intraclass correlation (ICC). Kappa agreement and the McNemar test were used to evaluate agreement between orthodontists and parents, and between men and women, for "attractive" and "unattractive" images of smiles captured with clinical photography. The single-measure ICC coefficients showed fair to good reliability of the Q-sort and poor reliability of the VAS for measuring esthetic preferences of an individual orthodontist or parent. Both rating groups agreed significantly (P >0.05) on the total percentage of "attractive" images of smiles captured with clinical photography. Men and women, however, significantly disagreed on the total percentages of "attractive" and "unattractive" smiles. Women rated higher percentages of both image groups as "attractive" than did their male counterparts. The Q-sort was more reliable than the VAS for measuring smile esthetics. Orthodontists and parents of orthodontic patients agreed with respect to "attractive" and "unattractive" smiles. Men and women agreed poorly with respect to "attractive" and "unattractive" smiles.

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.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

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.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.

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.

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.

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

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.

PubMed

Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A; Jain, Deepti; Laurie, Cathy C; Doheny, Kimberly F; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R; Neiswanger, Katherine; Lidral, Andrew C; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Czeizel, Andrew E; Field, L Leigh; Padilla, Carmencita D; Cutiongco-de la Paz, Eva Maria C; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G; Lie, Rolv T; Wilcox, Allen; Romitti, Paul A; Castilla, Eduardo E; Mereb, Juan C; Poletta, Fernando A; Orioli, Iêda M; Carvalho, Flavia M; Hecht, Jacqueline T; Blanton, Susan H; Buxó, Carmen J; Butali, Azeez; Mossey, Peter A; Adeyemo, Wasiu L; James, Olutayo; Braimah, Ramat O; Aregbesola, Babatunde S; Eshete, Mekonen A; Abate, Fikre; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M; Moreno, Lina; Murray, Jeffrey C; Marazita, Mary L

2016-07-01

Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P. As these loci do not account for all of the genetic variance of CL/P, we hypothesized the existence of additional risk loci. We conducted a multiethnic GWAS in 6480 participants (823 unrelated cases, 1700 unrelated controls and 1319 case-parent trios) with European, Asian, African and Central and South American ancestry. Our GWAS revealed novel associations on 2p24 near FAM49A, a gene of unknown function (P = 4.22 × 10 -8 ), and 19q13 near RHPN2, a gene involved in organizing the actin cytoskeleton (P = 4.17 × 10 -8 ). Other regions reaching genome-wide significance were 1p36 (PAX7), 1p22 (ARHGAP29), 1q32 (IRF6), 8q24 and 17p13 (NTN1), all reported in previous GWASs. Stratification by ancestry group revealed a novel association with a region on 17q23 (P = 2.92 × 10 -8 ) among individuals with European ancestry. This region included several promising candidates including TANC2, an oncogene required for development, and DCAF7, a scaffolding protein required for craniofacial development. In the Central and South American ancestry group, significant associations with loci previously identified in Asian or European ancestry groups reflected their admixed ancestry. In summary, we have identified novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs. © The Author 2016. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Analysis of 22q11.2 deletions by FISH in a series of velocardiofacial syndrome patients

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ravnan, J.B.; Golabi, M.; Lebo, R.V.

Deletions in chromosome 22 band q11.2 have been associated with velocardiofacial (VCF or Shprintzen) syndrome and the DiGeorge anomaly. A study of VCF patients evaluated at the UCSF Medical Center was undertaken to correlate disease phenotype with presence or absence of a deletion. Patients referred for this study had at least two of the following: dysmorphic facial features, frequent ear infections or hearing loss, palate abnormalities, thymic hypoplasia, hypocalcemia, congenital heart defect, hypotonia, and growth or language delay. Fluorescence in situ hybridization (FISH) using the DiGeorge critical region probe N25 was used to classify patients according to the presence ormore » absence of a deletion in 22q11.2, and the results were compared to clinical characteristics. We have completed studies on 58 patients with features of VCF. Twenty-one patients (36%) were found to have a deletion in 22q11.2 by FISH. A retrospective study of archived slides from 14 patients originally studied only by prometaphase GTG banding found six patients had a deletion detected by FISH; of these, only two had a microscopically visible chromosome deletion. Our study of 11 sets of parents of children with the deletion found two clinically affected mothers with the deletion, including one with three of three children clinically affected. A few patients who did not fit the classical VCF description had a 22q11.2 deletion detected by FISH. These included one patient with both cleft lip and palate, and another with developmental delay and typical facial features but no cardiac or palate abnormalities. Both patients with the DiGeorge anomaly as part of VCF had the deletion. On the other hand, a number of patients diagnosed clinically with classical VCF did not have a detectable deletion. This raises the question whether they represent a subset of patients with a defect of 22q11.2 not detected by the N25 probe, or whether they represent a phenocopy of VCF.« less

[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.

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).

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.

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.

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.

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

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.

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.

Whole genome sequencing and integrative genomic analysis approach on two 22q11.2 deletion syndrome family trios for genotype to phenotype correlations

PubMed Central

Chung, Jonathan H.; Cai, Jinlu; Suskin, Barrie G.; Zhang, Zhengdong; Coleman, Karlene

2015-01-01

The 22q11.2 deletion syndrome (22q11DS) affects 1:4000 live births and presents with highly variable phenotype expressivity. In this study, we developed an analytical approach utilizing whole genome sequencing and integrative analysis to discover genetic modifiers. Our pipeline combined available tools in order to prioritize rare, predicted deleterious, coding and non-coding single nucleotide variants (SNVs) and insertion/deletions (INDELs) from whole genome sequencing (WGS). We sequenced two unrelated probands with 22q11DS, with contrasting clinical findings, and their unaffected parents. Proband P1 had cognitive impairment, psychotic episodes, anxiety, and tetralogy of Fallot (TOF); while proband P2 had juvenile rheumatoid arthritis but no other major clinical findings. In P1, we identified common variants in COMT and PRODH on 22q11.2 as well as rare potentially deleterious DNA variants in other behavioral/neurocognitive genes. We also identified a de novo SNV in ADNP2 (NM_014913.3:c.2243G>C), encoding a neuroprotective protein that may be involved in behavioral disorders. In P2, we identified a novel non-synonymous SNV in ZFPM2 (NM_012082.3:c.1576C>T), a known causative gene for TOF, which may act as a protective variant downstream of TBX1, haploinsufficiency of which is responsible for congenital heart disease in individuals with 22q11DS. PMID:25981510

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

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Q-2: To what entities does this part apply? 30.2 Section 30.2 Money and Finance: Treasury Office of the Secretary of the Treasury TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.2 Q-2: To what entities does this part apply? This...

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

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.

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

Precise Penning trap measurements of double β-decay Q-values

NASA Astrophysics Data System (ADS)

Redshaw, M.; Brodeur, M.; Bollen, G.; Bustabad, S.; Eibach, M.; Gulyuz, K.; Izzo, C.; Lincoln, D. L.; Novario, S. J.; Ringle, R.; Sandler, R.; Schwarz, S.; Valverde, A. A.

2015-10-01

The double β-decay (ββ -decay) Q-value, defined as the mass difference between parent and daughter atoms, is an important parameter for both two-neutrino ββ -decay (2 νββ) and neutrinoless ββ -decay (0 νββ) experiments. The Q-value enters into the calculation of the phase space factors, which relate the measured ββ -decay half-life to the nuclear matrix element and, in the case of 0 νββ , the effective Majorana mass of the neutrino. In addition, the Q-value defines the total kinetic energy of the two electrons emitted in 0 νββ , corresponding to the location of the single peak that is the sought after signature of 0 νββ . Hence, it is essential to have a precise and accurate Q-value determination. Over the last decade, the Penning trap mass spectrometry community has made a significant effort to provide precise ββ -decay Q-value determinations. Here we report on recent measurements with the Low Energy Beam and Ion Trap (LEBIT) facility at the National Superconducting Cyclotron Laboratory (NSCL) of the 48Ca, 82Se, and 96Zr Q-values. These measurements complete the determination of ββ -decay Q-values for the 11 ``best'' candidates (those with Q >2 MeV). We also report on a measurement of the 78Kr double electron capture (2EC) Q-value and discuss ongoing Penning trap measurements relating to ββ -decay and 2EC. Support from NSF Contract No. PHY-1102511, and DOE Grant No. 03ER-41268.

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.

PubMed

Clements, Caitlin C; Wenger, Tara L; Zoltowski, Alisa R; Bertollo, Jennifer R; Miller, Judith S; de Marchena, Ashley B; Mitteer, Lauren M; Carey, John C; Yerys, Benjamin E; Zackai, Elaine H; Emanuel, Beverly S; McDonald-McGinn, Donna M; Schultz, Robert T

2017-01-01

Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. We recruited 46 patients with nested deletions ( n  = 33) or duplications ( n  = 13) of 22q11.2, including LCR-A to B ( n del  = 11), LCR-A to C ( n del  = 4), LCR-B to D ( n del  = 14; n dup  = 8), LCR-C to D ( n del  = 4; n dup  = 2), and smaller nested regions ( n  = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. Individuals with deletions involving LCR-A to B showed a 39-44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed.

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.

On the age and parent body of the daytime Arietids meteor shower

NASA Astrophysics Data System (ADS)

Abedin, A.; Wiegert, P.; Pokorny, P.; Brown, P.

2016-01-01

The daytime Arietid meteor shower is active from mid-May to late June and is among the strongest of the annual meteor showers, comparable in activity and duration to the Perseids and the Geminids. Due to the daytime nature of the shower, the Arietids have mostly been constrained by radar studies. The Arietids exhibit a long-debated discrepancy in the semi-major axis and the eccentricity of meteoroid orbits as measured by radar and optical surveys. Radar studies yield systematically lower values for the semi-major axis and eccentricity, where the origin of these discrepancies remain unclear. The proposed parent bodies of the stream include comet 96P/Machholz and more recently the Marsden's group of sun-skirting comets. In this work, we present detailed numerical modelling of the daytime Arietid meteoroid stream, with the goal to identifying the parent body and constraining the age of the stream. We use observational data from an extensive survey of the Arietids by the Canadian Meteor Orbit Radar (CMOR), in the period of 2002-2013, and several optical observations by the SonotaCo meteor network and the Cameras for All-sky Meteor Surveillance (CAMS). Our simulations suggest that the age and observed characteristics of the daytime Arietids are consistent with cometary activity from 96P, over the past 12000 years. The sunskirting comets that presumably formed in a major comet breakup between 100 - 950 AD (Chodas and Sekanina, 2005), alone, cannot explain the observed shower characteristics of the Arietids. Thus, the Marsden sunskirters cannot be the dominant parent, though our simulations suggest that they contribute to the core of the stream.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

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).

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.

Handbook of Parenting. Volume 2: Biology and Ecology of Parenting.

ERIC Educational Resources Information Center

Bornstein, Marc H., Ed.

Concerned with social settings and correlates of parenting, this volume, the second of four volumes on parenting deals specifically with the biology and the ecology of parenting. The volume consists of 12 chapters as follows: (1) "Hormonal Basis of Parenting in Mammals" (Jay S. Rosenblatt); (2) "Parenting in Primates" (Kim A.…

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

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.

A case of 3q29 microdeletion syndrome involving oral cleft inherited from a non-affected mosaic parent: molecular analysis and ethical implications

PubMed Central

Petrin, Aline L.; Daack-Hirsch, Sandra; L’Heureux, Jamie; Murray, Jeffrey C

2010-01-01

Objective The objective of this study was to use array-CGH to detect causal microdeletions in samples of subjects with cleft lip and palate. Subjects We analyzed DNA samples from a male patient and parents that was seen during surgical screening for an Operation Smile medical mission in the Philippines. Method We used Affymetrix Genome Wide Human SNP Array 6.0 followed by sequencing and quantitative PCR using SYBR Green I dye. Results We report the second case of 3q29 microdeletion syndrome including cleft lip with or without cleft palate and the first case of this microdeletion syndrome inherited from a phenotypically normal mosaic parent. Conclusions Our findings confirm the utility of aCGH to detect causal microdeletions; indicate that parental somatic mosaicism should be considered in healthy parents for genetic counseling of the families and discuss important ethical implications of sharing health impact results from research studies with the participant families. PMID:20500065

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.

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.

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.

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

[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.

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…

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

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

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bonnet, D.; Cormier-Daire, V.; Munnich, A.

Cono-truncal cardiac malformations account for some 50% of congenital heart defects in newborn infants. Recently, hemizygosity for chromosome 22q11.2 was reported in patients with the DiGeorge/Velo-cardio-facial syndromes (DGS/VCFS) and causally related disorders. We have explored the potential use of microsatellite DNA markers for rapid detection of 22q11 deletions in 19 newborn infants referred for cono-truncal heart malformations with associated DGS/VCFS anomalies. A failure of parental inheritance was documented in 84.2% of cases (16/19). PCR-based genotyping using microsatellite DNA markers located within the commonly deleted region allowed us either to confirm or reject a 22q11 microdeletion in 94.3% of cases (18/19)more » within 24 hours. This test is now currently performed in the infants referred to us for a cono-truncal heart malformation as a first intention screening for 22q11 microdeletion. 10 refs., 1 fig., 1 tab.« less

Shared decision-making in pediatric otolaryngology: Parent, physician and observational perspectives.

PubMed

Hong, Paul; Maguire, Erin; Gorodzinsky, Ayala Y; Curran, Janet A; Ritchie, Krista; Chorney, Jill

2016-08-01

To describe physician and parent behavior during pediatric otolaryngology surgical consultations, and to assess whether perceptions of shared decision-making and observed behavior are related. Parents of 126 children less than 6-years of age who underwent consultation for adeontonsillectomy or tympanostomy tube insertion were prospectively enrolled. Parents completed the Shared Decision-Making Questionnaire-Patient version (SDM-Q-9), while surgeons completed the Shared Decision-Making Questionnaire-Physician version (SDM-Q-Doc) after the consultation. Visits were video-recorded and analyzed using the Roter Interaction Analysis System to quantify physician and parent involvement during the consultation. Perceptions of shared decision-making between parents (SDM-Q-9) and physicians (SDM-Q-Doc) were significantly positively correlated (p = 0.03). However, there was no correlation between parents' perceptions of shared decision-making and observations of physician and parent behavior/involvement (proportion of physician socioemotional talk, task-focused talk, or proportion of parent talk). Surgeons' perceptions of shared decision-making were correlated with physician task-focused talk and proportion of parent talk. Parents and physicians had similar perceptions of the degree of shared decision-making to be taking place during pediatric otolaryngology consultations. However, there was variability in the degree to which parents participated, and parent perceptions of shared decision-making were not correlated with actual observed involvement. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

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.

Tabulation of comet observations.

NASA Astrophysics Data System (ADS)

1993-01-01

Concerning comets: 1973 XII Kohoutek, 1975 IX Kobayashi-Berger-Milon, 1976 VI West, 1976 XI P/d'Arrest, 1977 XIV Kohler, 1979 X Bradfield, 1980 X P/Stephan-Oterma, 1980 XV Bradfield, 1981 II Panther, 1982 VI Austin, 1983 V Sugano-Saigusa-Fujikawa, 1983 VII IRAS-Araki-Alcock, 1983 XIII P/Kopff, 1984 XIII Austin, 1984 XXIII Levy-Rudenko, 1985 XIII P/Giacobini-Zinner, 1985 XVII Hartley-Good, 1985 XIX Thiele, 1986 I P/Boethin, 1986 III P/Halley, 1986 XVIII Terasako, 1987 II Sorrells, 1987 III Nishikawa-Takamizawa-Tago, 1987 X P/Grigg-Skjellerup, 1987 XXIII Rudenko, 1987 XXIX Bradfield, 1987 XXXII McNaught, 1987 XXXIII P/Borrelly, 1988 IV Furuyama, 1988 V Liller, 1988 XIV P/Tempel 2, 1988 XV Machholz, 1988 XX Yanaka, 1988 XXIV Yanaka, 1989 X P/Brorsen-Metcalf, 1989 XV P/Schwassmann-Wachmann 1, 1989 XIX Okazaki-Levy-Rudenko, 1989 XXI Helin-Roman-Alu, 1989 XXII Aarseth-Brewington, 1990 III Černis-Kiuchi-Nakamura, 1990 VI Skorichenko-George, 1990 VIII P/Schwassmann-Wachmann 3, 1990 IX P/Peters-Hartley, 1990 X P/Wild 4, 1990 XIV P/Honda Mrkos-Pajdušáková, 1990 XVII Tsuchiya-Kiuchi, 1990 XXI P/Encke, 1990 XXVI Arai, 1991 XI P/Levy, 1991 XV P/Hartley 2, 1991 XVI P/Wirtanen, 1991 XVII P/Arend-Rigaux, 1991 XXI P/Faye, 1991 XXIII P/Shoemaker 1, 1991 XXIV Shoemaker-Levy, 1991l Helin-Lawrence, 1991ο P/Chernykh, 1991r Helin-Alu, 1991a1 Shoemaker-Levy, 1991g1 Zanotta-Brewington, 1991h1 Mueller, 1912d Tanaka-Machholz, 1992f P/Shoemaker-Levy 8, 1992k Machholz, 1992l P/Giclas, 1992p P/Brewington, 1992q Helin-Lawrence, 1992s P/Ciffréo, 1992t P/Swift-Tuttle, 1992u P/Väisälä, 1992x P/Schaumasse, 1992y Shoemaker, 1992a1 Ohshita, 1993a Mueller, P/Smirnova-Chernykh.

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.

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.

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.

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.

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

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

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

PubMed Central

Fernández, Luis; Nevado, Julián; Santos, Fernando; Heine-Suñer, Damià; Martinez-Glez, Victor; García-Miñaur, Sixto; Palomo, Rebeca; Delicado, Alicia; Pajares, Isidora López; Palomares, María; García-Guereta, Luis; Valverde, Eva; Hawkins, Federico; Lapunzina, Pablo

2009-01-01

Background Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. Methods We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. Results Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. Conclusion The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors. PMID

Chromosome 10q tetrasomy: First reported case

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

$eta$ production at high Q^2

DOE Office of Scientific and Technical Information (OSTI.GOV)

M.K. Jones

2012-04-01

The differential cross-sections for the p(e,e'p){eta} reaction have been measured in Hall C at Jefferson Lab at Q{sup 2} = 5.7 and 7.0 (GeV/c){sup 2} for center-of-mass energies from threshold to 1.8 GeV, encompassing the S{sub 11}(1535) resonance, which dominates the reaction. From fits to the data, the S{sub 11}(1535) helicity conserving photo-coupling amplitude, A{sub 1/2}, was extracted.

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 Q2 ≤ 4 (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 Q2 ≤ 4 (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.

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

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.

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.

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 Q2≃2GeV2, 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.

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

Cayler cardiofacial syndrome and del 22q11: Part of the CATCH22 phenotype

DOE Office of Scientific and Technical Information (OSTI.GOV)

Giannotti, A.; Digilio, M.C.; Marino, B.

1994-11-15

The authors report evidence supporting the hypothesis that del(22)(q11) can be a pathogenetic mechanism for the association between hypoplasia of the depressor anguli oris muscle (DAOM) and conotruncal cardiac malformations. A series of over 180 patients was investigated with deletions of 22q11 with conotruncal defects. About 2/3 of these patients had isolated, nonfamilial cardiac defects. Hemizygosity was searched using the HD7k probe and densitometric analysis. In the patients with molecular evidence of del(22)(q11), hemizygosity was confirmed also using fluorescence in situ hybridization (FISH) with SC11.1 probe. No deletion was found in the parents of hemizygous patients. 16 refs.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

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

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

Daughter Species Abundances in Comet C/2014 Q2 (Lovejoy)

NASA Astrophysics Data System (ADS)

McKay, Adam; Cochran, Anita; Dello Russo, Neil; Kelley, Michael

2015-11-01

We present analysis of high spectral resolution optical spectra of C/2014 Q2 (Lovejoy) acquired with the Tull Coude spectrometer on the 2.7-meter Harlan J. Smith Telescope at McDonald Observatory and the ARCES spectrometer mounted on the 3.5-meter Astrophysical Research Consortium Telescope at Apache Point Observatory. Both Tull Coude and ARCES provide high spectral resolution (R=30,000-60,000) and a large spectral range of approximately 3500-10000 Angstroms. We obtained two observation epochs, one in February 2015 at a heliocentric distance of 1.3 AU, and another in May 2015 at a heliocentric distance of 1.9 AU. Another epoch in late August 2015 at a heliocentric distance of 3.0 AU is scheduled. We will present production rates of the daughter species CN, C3, CH, C2, and NH2. We will also present H2O production rates derived from the [OI]6300 emission, as well as measurements of the flux ratio of the [OI]5577 Angstrom line to the sum of the [OI]6300 and [OI]6364 Angstrom lines (sometimes referred to as the oxygen line ratio). This ratio is indicative of the CO2 abundance of the comet. As we have observations at several heliocentric distances, we will examine how production rates and mixing ratios of the various species change with heliocentric distance. We will compare our oxygen line measurements to observations of CO2 made with Spitzer, as well as our other daughter species observations to those of candidate parent molecules made at IR wavelengths.

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

Practical guidelines for managing adults with 22q11.2 deletion syndrome

PubMed Central

Fung, Wai Lun Alan; Butcher, Nancy J.; Costain, Gregory; Andrade, Danielle M.; Boot, Erik; Chow, Eva W.C.; Chung, Brian; Cytrynbaum, Cheryl; Faghfoury, Hanna; Fishman, Leona; García-Miñaúr, Sixto; George, Susan; Lang, Anthony E.; Repetto, Gabriela; Shugar, Andrea; Silversides, Candice; Swillen, Ann; van Amelsvoort, Therese; McDonald-McGinn, Donna M.; Bassett, Anne S.

2015-01-01

22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities. PMID:25569435

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 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

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome.

PubMed

Niarchou, Maria; Calkins, Monica E; Moore, Tyler M; Tang, Sunny X; McDonald-McGinn, Donna M; Zackai, Elaine H; Emanuel, Beverly S; Gur, Ruben C; Gur, Raquel E

2018-06-06

22q11.2 Deletion Syndrome (22q11.2DS) is associated with increased risk for schizophrenia in adulthood while Attention Deficit Hyperactivity Disorder (ADHD) is the most prevalent diagnosis in childhood. Inattention symptoms are pronounced in 22q11.2DS and given that attentional impairment is a core feature of schizophrenia, inattention symptoms may reflect underlying ADHD, psychosis, or both. We investigate whether inattention is associated with psychosis in 22q11.2DS and in other groups at risk for psychosis but without the deletion (ND) (idiopathic clinical risk and first degree family members of individuals with schizophrenia). One hundred thirty-seven individuals with 22q11.2DS (mean age: 14.0), 84 ND individuals with subthreshold psychosis (mean age: 16.9) and 31 ND individuals with family history of psychosis (mean age: 17.0) were included in the study. Psychopathology was assessed using research diagnostic assessments. ADHD total symptoms were associated with overall levels of subthreshold psychosis symptoms in 22q11.2DS (β = .8, P = .04). Inattention symptoms were specifically associated with positive (β = .5, P = .004), negative (β = .5, P = .03), and disorganized (β = .5, P < .001) symptoms, while hyperactivity-impulsivity symptoms were associated with disorganized symptoms (β = .5, P = .01). The prevalence of ADHD inattention symptoms was higher in 22q11.2DS with subthreshold psychosis compared to ND individuals with subthreshold psychosis (P < .001), even when adjusting for cognitive impairment and overall psychopathology. The pattern was similar when comparing individuals with 22q11.2DS and ND individuals with family history of psychosis. This is the first study to examine the associations between ADHD symptoms and psychosis in 22q11.2DS. Our findings support a potentially important role of ADHD inattention symptoms in psychosis in 22q11.2DS.

A measurement and QCD analysis of the proton structure function F2 ( x, Q2) at HERA

NASA Astrophysics Data System (ADS)

Aid, S.; Andreev, V.; Andrieu, B.; Appuhn, R.-D.; Arpagaus, M.; Babaev, A.; Bähr, J.; Bán, J.; Ban, Y.; Baranov, P.; Barrelet, E.; Barschke, R.; Bartel, W.; Barth, M.; Bassler, U.; Beck, H. P.; Behrend, H.-J.; Belousov, A.; Berger, Ch.; Bernardi, G.; Bernet, R.; Bertrand-Coremans, G.; Besançoni, M.; Beyer, R.; Biddulph, P.; Bispham, P.; Bizot, J. C.; Blobel, V.; Borras, K.; Botterweck, F.; Boudry, V.; Braemer, A.; Braunschweig, W.; Brisson, V.; Bruncko, D.; Brune, C.; Buchholz, R.; Büngener, L.; BurgerF. W. Büsser, J.; Buniatian, A.; Burke, S.; Burton, M. J.; Buschhorn, G.; Campbell, A. J.; Carli, T.; Charles, F.; Charlet, M.; Clarke, D.; Clegg, A. B.; Clerbaux, B.; Cocks, S.; Contreras, J. G.; Cormack, C.; Coughlan, J. A.; Courau, A.; Cousinou, M.-C.; Cozzika, G.; Criegee, L.; Cussans, D. G.; Cvach, J.; Dagoret, S.; Dainton, J. B.; Dau, W. D.; Daum, K.; David, M.; Davis, C. L.; Delcourt, B.; De Roeck, A.; De Wolf, E. A.; Dirkmann, M.; Dixon, P.; Di Nezza, P.; Dlugosz, W.; Dollfus, C.; Dowell, J. D.; Dreis, H. B.; Droutskoi, A.; Düllmann, D.; Dünger, O.; Duhm, H.; Ebert, J.; Ebert, T. R.; Eckerlin, G.; Efremenko, V.; Egli, S.; Eichler, R.; Eisele, F.; Eisenhandler, E.; Ellison, R. J.; Elsen, E.; Erdmann, M.; Erdmann, W.; Evrard, E.; Fahr, A. B.; 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.; Formánek, J.; Foster, J. M.; Franke, G.; Fretwurst, E.; Gabathuler, E.; Gabathuler, K.; Gaede, F.; Garvey, J.; Gayler, J.; Gebauer, M.; Gellrich, A.; Genzel, H.; Gerhards, R.; Glazov, A.; Goerlach, U.; Goerlich, L.; Gogitidze, N.; Goldberg, M.; Goldner, D.; Golec-Biernat, K.; Gonzalez-Pineiro, B.; Gorelov, I.; Grab, C.; Grässler, H.; Grässler, R.; Greenshaw, T.; Griffiths, R.; Grindhammer, G.; Gruber, A.; Gruber, C.; Haack, J.; Haidt, D.; Hajduk, L.; Hampel, M.; Haynes, W. J.; Heinzelmann, G.; Henderson, R. C. W.; Henschel, H.; Herynek, I.; Hess, M. F.; Hildesheim, W.; Hiller, K. H.; Hilton, C. D.; Hladký, J.; Hoeger, K. C.; Höppner, M.; Hoffmann, D.; Holtom, T.; Horisberger, R.; Hudgson, V. L.; Hütte, M.; Hufnagel, H.; Ibbotson, M.; Itterbeck, H.; 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.; Kander, M.; Kant, D.; Kaschowitz, R.; Kathage, U.; Katzy, J.; Kaufmann, H. H.; Kazarian, S.; Kenyon, I. R.; Kermiche, S.; Keuker, C.; Kiesling, C.; Klein, M.; Kleinwort, C.; Knies, G.; Köhler, T.; Köhne, J. H.; Kolanoski, H.; Kole, F.; Kolya, S. D.; Korbel, V.; Korn, M.; Kostka, P.; Kotelnikov, S. K.; Krämerkämper, T.; Krasny, M. W.; Krehbie, H.; Krücker, D.; Krüger, U.; Krüner-Marquis, U.; Küster, H.; Kuhlen, M.; Kurča, T.; Kurzhöfer, J.; Lacour, D.; Laforge, B.; Lander, R.; Landon, M. P. J.; Lange, W.; Langenegger, U.; Laporte, J.-F.; Lebedev, A.; Lehner, F.; Leverenz, C.; Levonian, S.; Ley, Ch.; Lindström, G.; Lindstroem, M.; Link, J.; Linsel, F.; Lipinski, J.; List, B.; Lobo, G.; Lohmander, H.; Lomas, J. W.; Lopez, G. C.; Lubimov, V.; Lüke, D.; Magnussen, N.; Malinovski, E.; Mani, S.; 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.; Merz, T.; Meyer, A.; MeyerH. Meyer, A.; Meyer, J.; Meyer, P.-O.; Migliori, A.; Mikocki, S.; Milstead, D.; Moeck, J.; Moreau, F.; Morris, J. V.; Mroczko, E.; Müller, D.; 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.; Niedzballa, Ch.; Niggli, H.; Nisius, R.; Nowak, G.; Noyes, G. W.; Nyberg-Werther, M.; Oakden, M.; Oberlack, H.; Obrock, U.; Olsson, J. E.; Ozerov, D.; Palmen, P.; Panaro, E.; Panitch, A.; Pascaud, C.; Patel, G. D.; Pawletta, H.; Peppel, E.; Perez, E.; Phillips, J. P.; Pieuchot, A.; Pitzl, D.; Pope, G.; Prell, S.; Prosi, R.; Rabbertz, K.; Rädel, G.; Raupach, F.; Reimer, P.; Reinshagen, S.; Rick, H.; Riech, V.; Riedlberger, J.; Riepenhausen, F.; Riess, S.; 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.; Sahlmann, N.; Sankey, D. P. C.; Schacht, P.; Schiek, S.; Schleif, S.; Schleper, P.; von Schlippe, W.; Schmidt, D.; Schmidt, G.; Schöning, A.; Schröder, V.; Schuhmann, E.; Schwab, B.; Sefkow, F.; Seidel, M.; Sell, R.; Semenov, A.; Shekelyan, V.; Sheviakov, I.; Shtarkov, L. N.; Siegmon, G.; Siewert, U.; Sirois, Y.; Skillicorn, I. O.; Smirnov, P.; Smith, J. R.; Solochenko, V.; Soloviev, H.; Specka, A.; Spiekermann, J.; Spielman, S.; Spitzer, H.; Squinabl, F.; Starosta, R.; Steenbock, M.; Steffen, P.; Steinberg, R.; Steiner, H.; Stella, B.; Stellberger, A.; Stier, J.; Stiewe, J.; Stößlein, U.; Stolze, K.; Straumann, U.; Struczinski, W.; Sutton, J. P.; Tapprogge, S.; Taševský, M.; Tchernyshov, V.; Tchetchelnitski, S.; Theissen, J.; Thiebaux, C.; Thompson, G.; Truöl, P.; Turnau, J.; Tutas, J.; Uelkes, P.; Usik, A.; Valkár, S.; Valkárová, A.; Vallée, C.; Vandenplas, D.; Van Esch, P.; Van Mechelen, P.; Vazdik, Y.; Verrecchi, P.; Villet, G.; Wacker, K.; Wagener, A.; Wagener, M.; Walther, A.; Waugh, B.; Weber, G.; Weber, M.; Wegener, D.; Wegner, A.; Wengler, T.; Werner, M.; West, L. R.; Wilksen, T.; Willard, S.; Winde, M.; Winter, G.-G.; Wittek, C.; Wünsch, E.; Žáček, J.; Zarbock, D.; Zhang, Z.; Zhokin, A.; Zimmer, M.; Zomer, F.; Zsembery, J.; Zuber, K.; zurNedden, M.; Kaufmannxa, O.; H1 Collaboration

1996-02-01

A new measurement of the proton structure function F2 ( x, Q2) is reported for momentum transfers squared Q2 between ].5 GeV 2 and 5000 GeV 2 and for Bjorken x between 3 · 10 -5 and 0.32 using data collected by the HERA experiment H1 in 1994. The data represent an increase in statistics by a factor of ten with respect to the analysis of the 1993 data. Substantial extension of the kinematic range towards low Q2 and x has been achieved using dedicated data samples and events with initial state photon radiation. The structure function is found to increase significantly with decreasing x, even in the lowest accessible Q2 region. The data are well described by a Next to Leading Order QCD fit and the gluon density is extracted.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.

Primary Coenzyme Q Deficiency in Pdss2 Mutant Mice Causes Isolated Renal Disease

PubMed Central

Haase, Volker H.; King, Rhonda; Polyak, Erzsebet; Selak, Mary; Yudkoff, Marc; Hancock, Wayne W.; Meade, Ray; Saiki, Ryoichi; Lunceford, Adam L.; Clarke, Catherine F.; Gasser, David L.

2008-01-01

Coenzyme Q (CoQ) is an essential electron carrier in the respiratory chain whose deficiency has been implicated in a wide variety of human mitochondrial disease manifestations. Its multi-step biosynthesis involves production of polyisoprenoid diphosphate in a reaction that requires the enzymes be encoded by PDSS1 and PDSS2. Homozygous mutations in either of these genes, in humans, lead to severe neuromuscular disease, with nephrotic syndrome seen in PDSS2 deficiency. We now show that a presumed autoimmune kidney disease in mice with the missense Pdss2kd/kd genotype can be attributed to a mitochondrial CoQ biosynthetic defect. Levels of CoQ9 and CoQ10 in kidney homogenates from B6.Pdss2kd/kd mutants were significantly lower than those in B6 control mice. Disease manifestations originate specifically in glomerular podocytes, as renal disease is seen in Podocin/cre,Pdss2loxP/loxP knockout mice but not in conditional knockouts targeted to renal tubular epithelium, monocytes, or hepatocytes. Liver-conditional B6.Alb/cre,Pdss2loxP/loxP knockout mice have no overt disease despite demonstration that their livers have undetectable CoQ9 levels, impaired respiratory capacity, and significantly altered intermediary metabolism as evidenced by transcriptional profiling and amino acid quantitation. These data suggest that disease manifestations of CoQ deficiency relate to tissue-specific respiratory capacity thresholds, with glomerular podocytes displaying the greatest sensitivity to Pdss2 impairment. PMID:18437205

Contrasting roles of the ABCG2 Q141K variant in prostate cancer

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sobek, Kathryn M.; Cummings, Jessica L.; Department of Critical Care Medicine, University of Pittsburgh, Pittsburgh, PA

ABCG2 is a membrane transport protein that effluxes growth-promoting molecules, such as folates and dihydrotestosterone, as well as chemotherapeutic agents. Therefore it is important to determine how variants of ABCG2 affect the transporter function in order to determine whether modified treatment regimens may be necessary for patients harboring ABCG2 variants. Previous studies have demonstrated an association between the ABCG2 Q141K variant and overall survival after a prostate cancer diagnosis. We report here that in patients with recurrent prostate cancer, those who carry the ABCG2 Q141K variant had a significantly shorter time to PSA recurrence post-prostatectomy than patients homozygous for wild-typemore » ABCG2 (P=0.01). Transport studies showed that wild-type ABCG2 was able to efflux more folic acid than the Q141K variant (P<0.002), suggesting that retained tumoral folate contributes to the decreased time to PSA recurrence in the Q141K variant patients. In a seemingly conflicting study, it was previously reported that docetaxel-treated Q141K variant prostate cancer patients have a longer survival time. We found this may be due to less efficient docetaxel efflux in cells with the Q141K variant versus wild-type ABCG2. In human prostate cancer tissues, confocal microscopy revealed that all genotypes had a mixture of cytoplasmic and plasma membrane staining, with noticeably less staining in the two homozygous KK patients. In conclusion, the Q141K variant plays contrasting roles in prostate cancer: 1) by decreasing folate efflux, increased intracellular folate levels result in enhanced tumor cell proliferation and therefore time to recurrence decreases; and 2) in patients treated with docetaxel, by decreasing its efflux, intratumoral docetaxel levels and tumor cell drug sensitivity increase and therefore patient survival time increases. Taken together, these data suggest that a patient's ABCG2 genotype may be important when determining a personalized treatment

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.

^17O NMR Study of Sr_2CuO_2Cl_2, a Single-Layer Parent Compound of a High Tc Superconductor

NASA Astrophysics Data System (ADS)

Thurber, Kent; Hunt, Allen; Imai, Takashi; Chou, Fang-Cheng; Lee, Young

1997-03-01

We report NMR measurements of the ^17O nuclear spin-lattice relaxation rate 1/T_1, and the ^17O Knight shift of Sr_2CuO_2Cl2 (TN = 257 K) in the paramagnetic state from the Néel temperature up to 700 K. This establishes, for the first time, the temperature and frequency dependence of ^17O NMR in the paramagnetic state of a clean, single-layer, undoped parent compound of a high Tc superconductor. The ^17O NMR results test the nature of elementary spin excitations around q = 0 and give insight into the spin wave damping, Γ. The observation, ^17 1/T1 ~ a T^3 [ 1 + O(T/J) ], agrees semi-quantitatively with theoretical predictions based on spin waves in the spin S=1/2 2D Heisenberg model. electronically.

Altered auditory processing and effective connectivity in 22q11.2 deletion syndrome.

PubMed

Larsen, Kit Melissa; Mørup, Morten; Birknow, Michelle Rosgaard; Fischer, Elvira; Hulme, Oliver; Vangkilde, Anders; Schmock, Henriette; Baaré, William Frans Christiaan; Didriksen, Michael; Olsen, Line; Werge, Thomas; Siebner, Hartwig R; Garrido, Marta I

2018-01-30

22q11.2 deletion syndrome (22q11.2DS) is one of the most common copy number variants and confers a markedly increased risk for schizophrenia. As such, 22q11.2DS is a homogeneous genetic liability model which enables studies to delineate functional abnormalities that may precede disease onset. Mismatch negativity (MMN), a brain marker of change detection, is reduced in people with schizophrenia compared to healthy controls. Using dynamic causal modelling (DCM), previous studies showed that top-down effective connectivity linking the frontal and temporal cortex is reduced in schizophrenia relative to healthy controls in MMN tasks. In the search for early risk-markers for schizophrenia we investigated the neural basis of change detection in a group with 22q11.2DS. We recorded high-density EEG from 19 young non-psychotic 22q11.2 deletion carriers, as well as from 27 healthy non-carriers with comparable age distribution and sex ratio, while they listened to a sequence of sounds arranged in a roving oddball paradigm. Despite finding no significant reduction in the MMN responses, whole-scalp spatiotemporal analysis of responses to the tones revealed a greater fronto-temporal N1 component in the 22q11.2 deletion carriers. DCM showed reduced intrinsic connection within right primary auditory cortex as well as in the top-down, connection from the right inferior frontal gyrus to right superior temporal gyrus for 22q11.2 deletion carriers although not surviving correction for multiple comparison. We discuss these findings in terms of reduced adaptation and a general increased sensitivity to tones in 22q11.2DS. Copyright © 2018. Published by Elsevier B.V.

Measurement of the proton structure function F2 ( x, Q2) in the low- x region at HERA

NASA Astrophysics Data System (ADS)

Abt, I.; Ahmed, T.; Andreev, V.; Andrieu, B.; Appuhn, R.-D.; Arpagaus, M.; Babaev, A.; Bärwolff, H.; Bán, J.; Baranov, P.; Barrelet, E.; Bartel, W.; Bassler, U.; Beck, H. P.; Behrend, H.-J.; Belousov, A.; Berger, Ch.; Bergstein, H.; Bernardi, G.; Bernet, R.; Bertrand-Coremans, G.; Besançon, M.; Biddulph, P.; Binder, E.; Bischoff, A.; Bizot, J. C.; Blobel, V.; Borras, K.; Bosetti, P. C.; Boudry, V.; Bourdarios, C.; Brasse, F.; Braun, U.; Braunschweig, W.; Brisson, V.; Bruncko, D.; 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.; Colombo, M.; Coughlan, J. A.; Courau, A.; Coutures, Ch.; Cozzika, G.; Criegee, L.; Cvach, J.; Dagoret, S.; Dainton, J. B.; Danilov, M.; Dann, A. W. E.; Dau, W. D.; David, M.; Deffur, E.; Delcourt, B.; Del Buono, L.; Devel, M.; De Roeck, A.; Dingus, P.; Dollfus, C.; Dowell, J. D.; Dreis, H. B.; Drescher, A.; Duboc, J.; Düllmann, D.; Dünger, O.; Duhm, H.; Ebbinghaus, R.; Eberle, M.; Ebert, J.; Ebert, T. R.; Eckerlin, G.; Efremenko, V.; Egli, S.; Eichenberger, S.; Eichler, R.; Eisele, F.; Eisenhandler, E.; Ellis, N. N.; Ellison, R. J.; Elsen, E.; Erdmann, M.; Evrard, E.; Favart, L.; Fedotov, A.; Feeken, D.; Felst, R.; Feltesse, J.; Fensome, I. F.; Ferencei, J.; Ferrarotto, F.; Flamm, K.; Flauger, W.; Fleischer, M.; Flügge, G.; Fomenko, A.; Fominykh, B.; Forbush, M.; Formánek, J.; Foster, J. M.; Franke, G.; Fretwurst, E.; Fuhrmann, P.; Gabathuler, E.; Gamerdinger, K.; Garvey, J.; Gayler, J.; Gellrich, A.; Gennis, M.; Genzel, H.; Gerhards, R.; Godfrey, L.; Goerlach, U.; Goerlich, L.; Goldberg, M.; Goodall, A. M.; Gorelov, I.; Goritchev, P.; Grab, C.; Grässler, H.; Grässler, R.; Greenshaw, T.; Greif, H.; Grindhammer, G.; Gruber, C.; Haack, J.; Haidt, D.; Hajduk, L.; Hamon, O.; Handschuh, D.; Hanlon, E. M.; Hapke, M.; Harjes, J.; Haydar, R.; Haynes, W. J.; Heatherington, J.; Hedberg, V.; Heinzelmann, G.; Henderson, R. C. W.; Henschel, H.; Herma, R.; Herynek, I.; Hildesheim, W.; Hill, P.; Hilton, C. D.; Hladký, J.; Hoeger, K. C.; Huet, Ph.; Hufnagel, H.; Huot, N.; Ibbotson, M.; Itterbeck, H.; Jabiol, M.-A.; Jacholkowska, A.; Jacobsson, C.; Jaffre, M.; Jansen, T.; Jönsson, L.; Johannsen, K.; Johnson, D. P.; Johnson, L.; Jung, H.; Kalmus, P. I. P.; Kasarian, S.; Kaschowitz, R.; Kasselmann, P.; Kathage, U.; Kaufmann, H. H.; Kenyon, I. R.; Kermiche, S.; Keuker, C.; Kiesling, C.; Klein, M.; Kleinwort, C.; Knies, G.; Ko, W.; Köhler, T.; Kolanoski, H.; Kole, F.; Kolya, S. D.; Korbel, V.; Korn, M.; Kotska, P.; Kotelnikov, S. K.; Krasny, M. W.; Krehbiel, H.; Krücker, D.; Krüger, U.; Kubenka, J. P.; Küster, H.; Kuhlen, M.; Kurča, T.; Kurzhöfer, J.; Kuznik, B.; Lamarche, F.; Lander, R.; Landon, M. P. J.; Lange, W.; Langkau, R.; Lanius, P.; Laporte, J. F.; Lebedev, A.; Leuschner, A.; Leverenz, C.; Levonian, S.; Lewin, D.; Ley, Ch.; Lindner, A.; Lindström, G.; Linsel, F.; Lipinski, J.; Loch, P.; Lohmander, H.; Lopez, G. C.; Lüers, D.; Magnussen, N.; Malinovski, E.; Mani, S.; Marage, P.; Marks, J.; Marshall, R.; Martens, J.; Martin, R.; Martyn, H.-U.; Martyniak, J.; Masson, S.; Mavroidis, A.; Maxfield, S. J.; McMahon, S. J.; Mehta, A.; Meier, K.; Mercer, D.; Merz, T.; Meyer, C. A.; Meyer, H.; Meyer, J.; Mikocki, S.; Milone, V.; Monnier, E.; Moreau, F.; Moreels, J.; Morris, J. V.; Müller, K.; Murín, P.; Murray, S. A.; Nagovizin, V.; Naroska, B.; Naumann, Th.; Newton, D.; Neyret, D.; Nguyen, H. K.; Niebergall, F.; Nisius, R.; Nowak, G.; Noyes, G. W.; Nyberg, M.; Oberlack, H.; Obrock, U.; Olsson, J. E.; Orenstein, S.; Ould-Saada, F.; Pascaud, C.; Patel, G. D.; Peppel, E.; Peters, S.; Phillips, H. T.; Phillips, J. P.; Pichler, Ch.; Pilgram, W.; Pitzl, D.; Prell, S.; Prosi, R.; Rädel, G.; Raupach, F.; Rauschnabel, K.; Reimer, P.; Reinshagen, S.; Ribarics, P.; Riech, V.; Riedlberger, J.; Riess, S.; Rietz, M.; Robertson, S. M.; Robmann, P.; Roosen, R.; Rostovtsev, A.; Royon, C.; Rudowicz, M.; Ruffer, M.; Rusakov, S.; Rybicki, K.; Sahlmann, N.; Sanchez, E.; Sankey, D. P. C.; Savitsky, M.; Schacht, P.; Schleper, P.; von Schlippe, W.; Schmidt, C.; Schmidt, D.; Schmitz, W.; Schröder, V.; Schulz, M.; Schwab, B.; Schwind, A.; Scobel, W.; Seehausen, U.; 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.; Smolik, L.; Soloviev, Y.; Spitzer, H.; Staroba, P.; Steenbock, M.; Steffen, P.; Steinberg, R.; Stella, B.; Stephens, K.; Stier, J.; Stösslein, U.; Strachota, J.; Straumann, U.; Struczinski, W.; Sutton, J. P.; Taylor, R. E.; Tchernyshov, V.; Thiebaux, C.; Thompson, G.; Tichomirov, I.; Truöl, P.; Turnau, J.; Tutas, J.; Urban, L.; Usik, A.; Valkar, S.; Valkarova, A.; Vallée, C.; van Esch, P.; Vartapetian, A.; Vazdik, Y.; Vecko, M.; Verrecchia, P.; Vick, R.; Villet, G.; Vogel, E.; Wacker, K.; Walker, I. W.; Walther, A.; Weber, G.; Wegener, D.; Wegner, A.; Wellisch, H. P.; Willard, S.; Winde, M.; Winter, G.-G.; Wolff, Th.; Womersley, L. A.; Wright, A. E.; Wulff, N.; Yiou, T. P.; Žáček, J.; Závada, P.; Zeitnitz, C.; Ziaeepour, H.; Zimmer, M.; Zimmermann, W.; Zomer, F.; H1 Collaboration

1993-10-01

A measurement of the proton structure function F2 ( x, Q2) is presented with about 1000 neutral current deep inelastic scattering events for Bjorken x in the range x ⋍ 10 -2 - 10 -4and Q 2 > 5 GeV2. The measurement is based on an integrated luminosity of 22.5 nb -1 recorded by the H1 detector in the first year of HERA operation. The structure function F2 ( x, Q2) shows a significant rise with decreasing x.

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.

The 2-year stability of parental perceptions of child vulnerability and parental overprotection.

PubMed

Thomasgard, M; Metz, W P

1996-08-01

Clinicians often identify parent-child relationships that are believed to be problematic for the child's future emotional growth, yet there are minimal outcome data on which to base anticipatory guidance. This 2-year follow-up study examined the stability and child behavioral correlates of parental perceptions of increased child vulnerability and parental overprotection. Of 192 potential participants, 114 parents (93% mothers, 86% white, 75% married, 90% middle-upper socioeconomic status) with children age 4 to 7 years successfully completed the Parent Protection Scale, Child Vulnerability Scale, Child Behavior Checklist 4-18, and the Parental Bonding Instrument. The 2-year stability of high parental overprotection was 37%; for high parental perception of child vulnerability, it was 31%. High perceived vulnerability at enrollment was significantly associated with both internalizing (somatic complaints, anxious/depressed) and externalizing (aggressive) behaviors at follow-up. A history of overprotection in the parent's childhood was not associated with current parental report of overprotective behaviors toward the child.

Measurement of the Q 2 Dependence of the Deuteron Spin Structure Function g 1 and its Moments at Low Q 2 with CLAS

DOE PAGES

Adhikari, K. P.; Deur, A.; El Fassi, L.; ...

2018-02-09

We measured themore » $$g_{1}$$ spin structure function of the deuteron at low $$Q^{2}$$, where QCD can be approximated with chiral perturbation theory ($$\\chi PT$$). The data cover the resonance region, up to an invariant mass of $$W\\approx1.9$$ GeV. The generalized GDH sum, the moment $$\\Gamma_{1}^{d}$$ and the spin polarizability $$\\gamma_{0}^{d}$$ are precisely determined down to a minimum $Q^2$ of 0.02 GeV$^2$ for the first time, about 2.5 times lower than that of previous data. We compare them to several $$\\chi PT$$ calculations and models. In conclusion, these results are the first in a program of benchmark measurements of polarization observables in the $$\\chi PT$$ domain.« less

Measurement of the Q^{2} Dependence of the Deuteron Spin Structure Function g_{1} and its Moments at Low Q^{2} with CLAS.

PubMed

Adhikari, K P; Deur, A; El Fassi, L; Kang, H; Kuhn, S E; Ripani, M; Slifer, K; Zheng, X; Adhikari, S; Akbar, Z; Amaryan, M J; Avakian, H; Ball, J; Balossino, I; Barion, L; Battaglieri, M; Bedlinskiy, I; Biselli, A S; Bosted, P; Briscoe, W J; Brock, J; Bültmann, S; Burkert, V D; Thanh Cao, F; Carlin, C; Carman, D S; Celentano, A; Charles, G; Chen, J-P; Chetry, T; Choi, S; Ciullo, G; Clark, L; Cole, P L; Contalbrigo, M; Crede, V; D'Angelo, A; Dashyan, N; De Vita, R; De Sanctis, E; Defurne, M; Djalali, C; Dodge, G E; Drozdov, V; Dupre, R; Egiyan, H; El Alaoui, A; Elouadrhiri, L; Eugenio, P; Fedotov, G; Filippi, A; Ghandilyan, Y; Gilfoyle, G P; Golovatch, E; Gothe, R W; Griffioen, K A; Guidal, M; Guler, N; Guo, L; Hafidi, K; Hakobyan, H; Hanretty, C; Harrison, N; Hattawy, M; Heddle, D; Hicks, K; Holtrop, M; Hyde, C E; Ilieva, Y; Ireland, D G; Isupov, E L; Jenkins, D; Jo, H S; Johnston, S C; Joo, K; Joosten, S; Kabir, M L; Keith, C D; Keller, D; Khachatryan, G; Khachatryan, M; Khandaker, M; Kim, W; Klein, A; Klein, F J; Konczykowski, P; Kovacs, K; Kubarovsky, V; Lanza, L; Lenisa, P; Livingston, K; Long, E; MacGregor, I J D; Markov, N; Mayer, M; McKinnon, B; Meekins, D G; Meyer, C A; Mineeva, T; Mirazita, M; Mokeev, V; Movsisyan, A; Munoz Camacho, C; Nadel-Turonski, P; Niculescu, G; Niccolai, S; Osipenko, M; Ostrovidov, A I; Paolone, M; Pappalardo, L; Paremuzyan, R; Park, K; Pasyuk, E; Payette, D; Phelps, W; Phillips, S K; Pierce, J; Pogorelko, O; Poudel, J; Price, J W; Prok, Y; Protopopescu, D; Raue, B A; Rizzo, A; Rosner, G; Rossi, P; Sabatié, F; Salgado, C; Schumacher, R A; Sharabian, Y G; Shigeyuki, T; Simonyan, A; Skorodumina, Iu; Smith, G D; Sparveris, N; Sokhan, D; Stepanyan, S; Strakovsky, I I; Strauch, S; Sulkosky, V; Taiuti, M; Tan, J A; Ungaro, M; Voutier, E; Wei, X; Weinstein, L B; Zhang, J; Zhao, Z W

2018-02-09

We measured the g_{1} spin structure function of the deuteron at low Q^{2}, where QCD can be approximated with chiral perturbation theory (χPT). The data cover the resonance region, up to an invariant mass of W≈1.9  GeV. The generalized Gerasimov-Drell-Hearn sum, the moment Γ_{1}^{d} and the spin polarizability γ_{0}^{d} are precisely determined down to a minimum Q^{2} of 0.02  GeV^{2} for the first time, about 2.5 times lower than that of previous data. We compare them to several χPT calculations and models. These results are the first in a program of benchmark measurements of polarization observables in the χPT domain.

Measurement of the Q 2 Dependence of the Deuteron Spin Structure Function g 1 and its Moments at Low Q 2 with CLAS

DOE Office of Scientific and Technical Information (OSTI.GOV)

Adhikari, K. P.; Deur, A.; El Fassi, L.

We measured themore » $$g_{1}$$ spin structure function of the deuteron at low $$Q^{2}$$, where QCD can be approximated with chiral perturbation theory ($$\\chi PT$$). The data cover the resonance region, up to an invariant mass of $$W\\approx1.9$$ GeV. The generalized GDH sum, the moment $$\\Gamma_{1}^{d}$$ and the spin polarizability $$\\gamma_{0}^{d}$$ are precisely determined down to a minimum $Q^2$ of 0.02 GeV$^2$ for the first time, about 2.5 times lower than that of previous data. We compare them to several $$\\chi PT$$ calculations and models. In conclusion, these results are the first in a program of benchmark measurements of polarization observables in the $$\\chi PT$$ domain.« less

Expression of Shiga toxin 2 (Stx2) in highly virulent Stx-producing Escherichia coli (STEC) carrying different anti-terminator (q) genes.

PubMed

Olavesen, Kristoffer K; Lindstedt, Bjørn-Arne; Løbersli, Inger; Brandal, Lin T

2016-08-01

Shiga toxins (Stx) are key virulence factors of Shiga toxin-producing Escherichia coli (STEC) during development of haemolytic uremic syndrome (HUS). It has been suggested that not only specific stx2 subtypes, but also the amount of Stx2 expressed might be essential for STEC pathogenicity. We aimed to investigate if various anti-terminator (q) genes might influence the expression level of Stx2 in highly virulent STEC. A multiplex PCR detecting q933, q21, and qO111 was run on 20 stx2a-positive STEC strains, of which 18 were HUS associated serotypes (HAS) and two non-HAS. Relative expression of Stx2 mRNA was assessed for all strains, both in non-induced and induced (mitomycin C) state. The HAS STEC carried either q933 (n = 8), qO111 (n = 8), or both (n = 2). In basal state, no STEC strains showed higher expression of Stx2 mRNA than the calibrator EDL933 (non-sorbitol fermenting (NSF) O157:H7carrying q933). Variations among strains were not associated with different q genes present, but rather related to specific serogroups. In induced state, O104:H4 strains (q933) showed higher Stx2 mRNA level than EDL933, whereas sorbitol fermenting (SF) O157:H- (qO111) and O121:H? (q933) STEC showed levels comparable with EDL933. An association between the presence of q933 and higher Stx2 level was seen within some HAS, but not all. Interestingly, the O103:H25 STEC strains, responsible for a HUS outbreak in Norway, carried both q933 and qO111. However, the Stx2 mRNA level in these strains was significantly lower than EDL933 in both states, indicating that other factors than the level of Stx2 might explain the aggressiveness of these bacteria. The two non-HAS STEC did not carry any of the examined q genes. In induced state, these bacteria showed the lowest Stx2 mRNA level compared to EDL933. One of the non-HAS STEC was not induced by mitomycin C, suggesting that stx2a might be located on a defect bacteriophage. No association between specific q genes and Stx2 mRNA expression

Localization of the human tripeptidyl peptidase II gene (TPP2) to 13q32-q33 by nonradioactive in situ hybridization and somatic cell hybrids

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.

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

ERIC Educational Resources Information Center

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

2014-01-01

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

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.

Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21).

PubMed

Tzancheva, M; Krachounova, M; Damjanova, Z

1981-01-01

A trisomy of the distal long arm of chromosome 15(q21 leads to qter) resulting in similar phenotypic and developmental abnormalities in two related children (a boy and a girl) is described. The chromosome defect was due to malsegregation of a balanced translocation (5;15)(p14;q21) in one of the parents. It was inherited in four generations and accompanied by recurrent miscarriages. Comparison of these patients with four previously published cases of trisomy 15q dist reveals a pattern of common features including: microdolichocephaly with characteristic strikingly protuberant occiput and predominance of the visceral over the cerebral cranium; peculiar facial dysmorphism--narrow antimongoloid palpebral fissures; large, malformed, low-set ears; micrognathy; long philtrum; short neck; cardiopathy; profound encephalopathy with lack of suck and swallow reflexes; and no growth retardation.

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.

[Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome].

PubMed

Silva, João Miguel de Almeida; Silva, Cecília Pereira; Melo, Flavio Fernando Nogueira de; Silva, Luis Alberto A; Utagawa, Claudia Yamada

2010-08-01

The 22q11.2 deletion syndrome (22q11.2DS) is related to a high phenotypic variability including the velocardiofacial/DiGeorge spectrum. Autoimmune, endocrine and immunodeficiency manifestations have been reportedly associated with the syndrome. The objective of this study was to report a case of 22q11.2DS associated with IgA deficiency and Graves disease and review literature in order to verify the frequency of syndrome alterations. Autoimmune disorders have been increasingly related to 22q11.2DS, and new phenotypes are being incorporated in the clinical spectrum of this syndrome. In our study we found that Graves disease in association with 22q11.2DS was reported in only sixteen patients, and fifteen cases were described in the last 13 years. Based on the incidence and on the amplitude of this recognized spectrum, we reinforce the findings of literature that Graves disease should be included on the 22q11.2DS manifestations, which would lead us to seek it with 22q11.2 deletion patients.

Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

PubMed Central

López, Luis Carlos ; Schuelke, Markus ; Quinzii, Catarina M. ; Kanki, Tomotake ; Rodenburg, Richard J. T. ; Naini, Ali ; DiMauro, Salvatore ; Hirano, Michio 

2006-01-01

Coenzyme Q10 (CoQ10) is a vital lipophilic molecule that transfers electrons from mitochondrial respiratory chain complexes I and II to complex III. Deficiency of CoQ10 has been associated with diverse clinical phenotypes, but, in most patients, the molecular cause is unknown. The first defect in a CoQ10 biosynthetic gene, COQ2, was identified in a child with encephalomyopathy and nephrotic syndrome and in a younger sibling with only nephropathy. Here, we describe an infant with severe Leigh syndrome, nephrotic syndrome, and CoQ10 deficiency in muscle and fibroblasts and compound heterozygous mutations in the PDSS2 gene, which encodes a subunit of decaprenyl diphosphate synthase, the first enzyme of the CoQ10 biosynthetic pathway. Biochemical assays with radiolabeled substrates indicated a severe defect in decaprenyl diphosphate synthase in the patient’s fibroblasts. This is the first description of pathogenic mutations in PDSS2 and confirms the molecular and clinical heterogeneity of primary CoQ10 deficiency. PMID:17186472

Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

PubMed

Cascella, Marco; Muzio, Maria Rosaria

2015-01-01

Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.

PubMed

Xu, Huihui; Xiao, Bing; Ji, Xing; Hu, Qin; Chen, Yingwei; Qiu, Wenjuan

2014-07-01

Tetrasomy for the distal chromosome 15q is rare, and only 22 patients (including 6 cases without detailed information) have been described to date in the literature. Here we report on another patient with nonmosaic tetrasomy 15q25.2-qter resulted from an inverted duplication of distal chromosome 15. This patient presents with features of development delay, arachnodactyly, joint contractures and typical facial dysmorphism including frontal bossing, short palpebral fissures, long philtrum, low-set ears, high-arched palate and retrognathia. Unlike most of the related patients, abdominal ultrasound test and brain MRI showed normal. Karyotyping analysis revealed a supernumerary marker chromosome presented in all metaphase cells examined. Parental karyotyping analysis was normal, indicating a de novo chromosome aberration of the patient. SNP microarray analysis found a two copy gain of 17.7 Mb from the distal long arm of chromosome 15 (15q25.2-qter). Further FISH analysis using SureFISH 15q26.3 IGF1R probe proved an inverted duplication of distal long arm of chromosome 15. The segmental duplications which lie in the hotspots of 15q24-26 might increase the susceptibility of chromosome rearrangement. Compared with the George-Abraham' study [2012], ADAMTSL3 might be more related to the cardiac disorders in tetrasomy 15q patients. Considering all patients reported in the literature, different mosaic degrees and segmental sizes don't correlate to the severity of phenotypes. A clear delineation on tetrasomy for distal chromosome 15q could still be investigated. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

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.

Disrupted fornix integrity in children with chromosome 22q11.2 deletion syndrome

PubMed Central

Deng, Yi; Goodrich-Hunsaker, Naomi J.; Cabaral, Margarita; Amaral, David G.; Buonocore, Michael H.; Harvey, Danielle; Kalish, Kristopher; Carmichael, Owen; Schumann, Cynthia M.; Lee, Aaron; Dougherty, Robert F.; Perry, Lee M.; Wandell, Brian A.; Simon, Tony J.

2015-01-01

The fornix is the primary subcortical output fiber system of the hippocampal formation. In children with 22q11.2 deletion syndrome (22q11.2DS), hippocampal volume reduction has been commonly reported, but few studies as yet have evaluated the integrity of the fornix. Therefore, we investigated the fornix of 45 school-aged children with 22q11.2DS and 38 matched typically developing (TD) children. Probabilistic diffusion tensor imaging (DTI) tractography was used to reconstruct the body of fornix in each child's brain native space. Compared with children, significantly lower fractional anisotropy (FA) and higher radial diffusivity (RD) was observed bilaterally in the body of the fornix in children with 22q11.2DS. Irregularities were especially prominent in the posterior aspect of the fornix where it emerges from the hippocampus. Smaller volumes of hippocampal formations were also found in the 22q11.2DS group. The reduced hippocampal volumes were correlated with fornix lower FA and higher RD in the right hemisphere. Our findings provide neuroanatomical evidence of disrupted hippocampal connectivity in children with 22q11.2DS, which may help to further understand the biological basis for spatial impairments, affective regulation, and other factors related to the ultra-high risk for schizophrenia in this population. PMID:25748884

Computing the nucleon charge and axial radii directly at Q2=0 in lattice QCD

NASA Astrophysics Data System (ADS)

Hasan, Nesreen; Green, Jeremy; Meinel, Stefan; Engelhardt, Michael; Krieg, Stefan; Negele, John; Pochinsky, Andrew; Syritsyn, Sergey

2018-02-01

We describe a procedure for extracting momentum derivatives of nucleon matrix elements on the lattice directly at Q2=0 . This is based on the Rome method for computing momentum derivatives of quark propagators. We apply this procedure to extract the nucleon isovector magnetic moment and charge radius as well as the isovector induced pseudoscalar form factor at Q2=0 and the axial radius. For comparison, we also determine these quantities with the traditional approach of computing the corresponding form factors, i.e. GEv(Q2) and GMv(Q2) for the case of the vector current and GPv(Q2) and GAv(Q2) for the axial current, at multiple Q2 values followed by z -expansion fits. We perform our calculations at the physical pion mass using a 2HEX-smeared Wilson-clover action. To control the effects of excited-state contamination, the calculations were done at three source-sink separations and the summation method was used. The derivative method produces results consistent with those from the traditional approach but with larger statistical uncertainties especially for the isovector charge and axial radii.

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

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

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.

Polarization transfer in the H2(e→,e'p→)n reaction up to Q2=1.61(GeV/c)2

NASA Astrophysics Data System (ADS)

Hu, B.; Jones, M. K.; Ulmer, P. E.; Arenhövel, H.; Baker, O. K.; Bertozzi, W.; Brash, E. J.; Calarco, J.; Chen, J.-P.; Chudakov, E.; Cochran, A.; Dumalski, S.; Ent, R.; M. Finn, J.; Garibaldi, F.; Gilad, S.; Gilman, R.; Glashausser, C.; Gomez, J.; Gorbenko, V.; Hansen, J.-O.; Hovebo, J.; Jager, C. W. De; Jeschonnek, S.; Jiang, X.; Keppel, C.; Klein, A.; Kozlov, A.; Kuhn, S.; Kumbartzki, G.; Kuss, M.; Lerose, J. J.; Liang, M.; Liyanage, N.; Lolos, G. J.; Markowitz, P. E. C.; Meekins, D.; Michaels, R.; Mitchell, J.; Papandreou, Z.; Perdrisat, C. F.; Punjabi, V.; Roche, R.; Rowntree, D.; Saha, A.; Strauch, S.; Todor, L.; Urciuoli, G.; Weinstein, L. B.; Wijesooriya, K.; Wojtsekhowski, B. B.; Woo, R.

2006-06-01

The recoil proton polarization was measured in the H2(e→,e'p→)n reaction in Hall A of the Thomas Jefferson National Accelerator Facility. The electron kinematics were centered on the quasielastic peak (xBj≈1) and included three values of the squared four-momentum transfer, Q2=0.43,1.00 and 1.61 (GeV/c)2. For Q2=0.43 and 1.61 (GeV/c)2, the missing momentum, pm, was centered at zero, whereas for Q2=1.00(GeV/c)2 two values of pm were chosen: 0 and 174MeV/c. At low pm, the Q2 dependence of the longitudinal polarization, Pz', is not well described by a state-of-the-art calculation. Further, at higher pm, a 3.5σ discrepancy was observed in the transverse polarization, Px'. Understanding the origin of these discrepancies is important to confidently extract the neutron electric form factor from the analogous H2(e→,e'n→)p experiment.

Xenobiotic metal-induced autoimmunity: mercury and silver differentially induce antinucleolar autoantibody production in susceptible H-2s, H-2q and H-2f mice

PubMed Central

Hansson, M; Abedi-Valugerdi, M

2003-01-01

Xenobiotic-metals such as mercury (Hg) and silver (Ag) induce an H-2 linked antinucleolar autoantibody (ANolA) production in susceptible mice. The mechanism for induction of ANolA synthesis is not well understood. However, it has been suggested that both metals interact with nucleolar proteins and reveal cryptic self-peptides to nontolerant autoreactive T cells, which in turn stimulate specific autoreactive B cells. In this study, we considered this suggestion and asked if mercury and silver display, if not identical, similar cryptic self-peptides, they would induce comparable ANolA responses in H-2 susceptible mice. We analysed the development of ANolA production in mercury- and/or silver-treated mice of H-2s, H-2q and H-2f genotypes. We found that while mercury stimulated ANolA synthesis in all strains tested, silver induced ANolA responses of lower magnitudes in only H-2s and H-2q mice, but not in H-2f mice. Resistance to silver in H-2f mice was independent of the dosage/time-period of silver-treatment and non-H-2 genes. Further studies showed that F1 hybrid crosses between silver-susceptible A.SW (H-2s) and -resistant A.CA (H-2f) mice were resistant to silver, but not mercury with regard to ANolA production. Additionally, the magnitudes of mercury-induced ANolA responses in the F1 hybrids were lower than those of their parental strains. The above differential ANolA responses to mercury and silver can be explained by various factors, including the different display of nucleolar cryptic peptides by these xenobiotics, determinant capture and coexistence of different MHC molecules. Our findings also suggest that the ability of a xenobiotic metal merely to create cryptic self-peptides may not be sufficient for the induction of an ANolA response. PMID:12605692

Measurement of the Elastic Ep Cross Section at Q2 = 0.66, 1.10, 1.51 and 1.65 Gev2

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wang, Yang

The nucleon form factors have been investigated by physicists for decades because of their fundamental importance. The world data of the proton magnetic form factor GMp has been focused on Q2 lower than 5 GeV2 and they have large uncertainties at higher Q2. Jefferson Lab experiment E12-07-108 aims to improve the accuracy of the e ? p elastic cross section to better than 2% over a Q2 range of 7 ? 14 GeV2. From 2015 to 2016, the e ? p elastic cross section was measured over a wide range of Q2 from 0.66 ? 12.56 GeV2 at the Thomasmore » Jefferson National Accelerator Facility in Virginia, USA. An unpolarized electron beam was scattered o? a cryogenic hydrogen target and the scattered electron was detected in the high resolution spectrometers. This thesis focuses on the cross section calculations of the data taken in the spring of 2015, where Q2 = 0.66, 1.10, 1.51 and 1.66 GeV2. At Q2 = 0.66 GeV2, an uncertainty < 3% was achieved and < 5% was achieved for the other three Q2 at the moment. The results were compared with the world data and the good agreement provides confidence for the experimental measurements at higher Q2.« less

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.

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.

"Why do you want your child to have braces?" Investigating the motivations of Hispanic/Latino and white parents.

PubMed

Davis, Blake B; Bayirli, Burcu; Ramsay, Douglas S; Turpin, David L; Paige, Andrew; Riedy, Christine A

2015-11-01

Many psychological, social, and cultural factors influence parents' motivation to seek orthodontic care for their children. In this study, we used Q methodology to identify and categorize shared motives and determine whether cultural differences exist between Hispanic/Latino (H/L) and non-Hispanic/Latino, white (W) parents. The fundamental question posed to the parents was "Why do you want your child to have braces?" Q methodology involves 3 stages. (1) Interviews of H/L (n = 5) and W (n = 5) parents generated 35 statements that represented different motives to seek orthodontic care. (2) In the Q sort, 70 new parents (22 H/L, 48 W) ranked statements in order of relative importance using a forced distribution grid. (3) Factor analysis was performed separately for the H/L and W groups to uncover cultural differences. Four motivational profiles were described for both the H/L and W parents based on the significant factors identified in each group. More H/L parents (18 of 22 parents) than W parents (22 of 48 parents) were characterized by 1 of their group's 4 profiles. Comparisons of the motivational profiles across the groups showed 4 global themes: well-timed treatment that prevents future dental problems, parental responsibility, perceived benefits, and perceived need instilled by the dentist. Four global themes captured the motives of most parents seeking orthodontic treatment for their children. Understanding these global themes can help clinicians frame their treatment discussions with parents. Copyright © 2015 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

Measurement of the Structure Function Ratio $$F^{\\eta}_2$$ /$$ F^p_2$$ in Muon - Nucleon Scattering at Low $x$ and $$Q^{2}$$

DOE Office of Scientific and Technical Information (OSTI.GOV)

Spentzouris, Panagiotis

1994-12-01

The ratio of the neutron to proton structure functions,more » $$F^{\\eta}_2$$ / $$F^p_2$$, from scattering of 470 GeV muons on liquid hydrogen and deuterium targets, is measured at very small-x and $Q^2$ , using the Fermilab E665 spectrometer. The results presented cover the region 0.000004 < x < 0.3 and $Q^2$ > 0.001 $GeV^2$ , three orders of magnitude lower in z than previous fixed-target experiments, and with higher average Q2 in the overlap region....« less

Proximal dup(10q): Case report and literature review

DOE Office of Scientific and Technical Information (OSTI.GOV)

Barritt, J.A.; Teague, K.E.; Bodurtha, J.N.

We report a case of a proximal dir dup(10q) in a female with multiple congenital anomalies. During infancy she was noted to gave growth retardation, microcephaly, microphthalmia, coloboma, a long, beaked nose, posteriorly rotated ears with simple helices, full bowed lips, widely-spaced nipples, broad first toes, hypermobile and proximally placed thumbs, a heart murmur, PDA, and coarctation of the aorta. Additional findings at age 13 included a full columella, short philtrum, thin limbs, bilateral blindness, and mental retardation, as well as continued growth retardation. Her medical history included precocious puberty at age 8 and a diagnosis of hyperactivity. Using FISHmore » with multiple probes combined with GTG-banding, the aberrant chromosome was determined to be a dir dup(10)(q21{r_arrow}q22). Parental chromosomes were normal and the family history was unremarkable. The parental origin of the dir dup(10) is being assessed using DNA markers. Five similar cases of proximal dup(10q) have been reported previously. Consistent characteristics include low birth weight, developmental and psychomotor delay, growth retardation, and microcephaly. Also found in most cases were short prominent philtrum, bowed mouth, PDA, thin limbs, coloboma, micropthalmia, deep set eyes, and other ocular anomalies. Our case is unique in that she has a long, beaked nose, precocious puberty, and hyperactivity. Future studies such as this, using molecular cytogenetic techniques to better define the chromatin involved in proximal dup(10q), may lead to its recognition as a distinct clinical phenotype.« less

'At the end of the day, it is more important that he stays happy': an interpretative phenomenological analysis of people who have a sibling with 22q11.2 deletion syndrome.

PubMed

Goodwin, J; Alam, S; Campbell, L E

2017-09-01

22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. However, there is little research examining the effect of this multisystem disorder on the family, particularly siblings. The current study was a phenomenological exploration of sense-making in siblings of a person with 22q11.2DS. Interpretative phenomenological analysis informed a detailed and open examination of being a sibling of a person with 22q11.2DS. Using in-depth semistructured interviews, five typically developing siblings (two men, three women) of people with 22q11.2DS were individually interviewed, providing the data set for transcription and thematic analysis. The theme 'They are the priority' overarched two subordinate themes that emerged from participants' descriptions of the struggle with acceptance and finding positive meaning. Participants oscillated between conflicting feelings about their sibling with 22q11.2DS always taking centre stage. For example, they felt anger, guilt and resentment; yet, they also embraced patience, empathy and gratitude. This phenomenological study provides a foundation for future research relating to 22q11.2DS and fostering family wellbeing, particularly around acceptance and psychological growth. The siblings in this study actively withdrew from their family to allow prioritisation of their affected sibling. However, this does not mean that their needs should be overlooked. There are easily accessible resources to support siblings of individuals with disabilities, and it is important for health professionals and parents to consider these options. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

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

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.

PubMed

Vaz, Sara O; Pires, Renato; Pires, Luís M; Carreira, Isabel M; Anjos, Rui; Maciel, Paula; Mota-Vieira, Luisa

2015-08-22

The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. These rearrangements are implicated in syndromes that have some phenotypic resemblances. While the 22q11.2 deletion, also known as DiGeorge/Velocardiofacial syndrome, has common features that include cardiac abnormalities, thymic hypoplasia, characteristic face, hypocalcemia, cognitive delay, palatal defects, velopharyngeal insufficiency, and other malformations, the microduplication syndrome is largely undetected. This is mainly because phenotypic appearance is variable, milder, less characteristic and unpredictable. In this paper, we report the clinical evaluation and follow-up of two patients affected by 22q11.2 rearrangements, emphasizing new phenotypic features associated with duplication and triplication of this genomic region. Patient 1 is a 24 year-old female with 22q11.2 duplication who has a heart defect (ostium secundum atrial septal defect) and supernumerary teeth (hyperdontia), a feature previously not reported in patients with 22q11.2 microduplication syndrome. Her monozygotic twin sister, who died at the age of one month, had a different heart defect (truncus arteriousus). Patient 2 is a 20 year-old female with a 22q11.2 triplication who had a father with 22q11.2 duplication. In comparison to the first case reported in the literature, she has an aggravated phenotype characterized by heart defects (restrictive VSD and membranous subaortic stenosis), and presented other facial dysmorphisms and urogenital malformations (ovarian cyst). Additionally, she has a hemangioma planum on the right side of her face, a feature of Sturge-Weber syndrome. In this report, we described hyperdontia as a new feature of 22q11.2 microdeletion syndrome. Moreover, this syndrome was diagnosed in a patient who had a deceased monozygotic twin affected with a different heart defect, which corresponds to a

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.

Species Boundaries Between Three Sympatric Oak Species: Quercus aliena, Q. dentata, and Q. variabilis at the Northern Edge of Their Distribution in China.

PubMed

Lyu, Jia; Song, Jia; Liu, Yuan; Wang, Yuyao; Li, Junqing; Du, Fang K

2018-01-01

Oaks are important timber trees with wide distributions in China, but few genetic studies have been conducted on a fine scale. In this study, we seek to investigate the genetic diversity and differentiation of three sympatric oak species ( Quercus aliena Blume, Quercus dentata Thunb. ex Murray, and Quercus variabilis Blume) in their northern distribution in China using 17 bi-parentally inherited nSSRs markers and five maternally inherited chloroplast DNA (cpDNA) fragments. Both the cpDNA and the nSSRs show a high level of genetic differentiation between different oak sections. The chloroplast haplotypes are clustered into two lineages. Clear species boundaries are detected between Q. variabilis and either Q. aliena or Q. dentata . The sharing of chloroplast haplotype H1 between Q. aliena and Q. dentata suggests very recent speciation and incomplete lineage sorting or introgression of H1 from one species to another. The nSSRs data indicate a complete fixation of variation within sites for all three oak species, and that extensive gene flow occurs within species whereas only limited gene flow is detected between Q. aliena and Q. dentata and nearly no gene flow can be detected between Q. aliena and Q. variabilis and between Q. dentata and Q. variabilis . Prezygotic isolation may have contributed to the species boundaries of these three sympatric oak species.

Species Boundaries Between Three Sympatric Oak Species: Quercus aliena, Q. dentata, and Q. variabilis at the Northern Edge of Their Distribution in China

PubMed Central

Lyu, Jia; Song, Jia; Liu, Yuan; Wang, Yuyao; Li, Junqing; Du, Fang K.

2018-01-01

Oaks are important timber trees with wide distributions in China, but few genetic studies have been conducted on a fine scale. In this study, we seek to investigate the genetic diversity and differentiation of three sympatric oak species (Quercus aliena Blume, Quercus dentata Thunb. ex Murray, and Quercus variabilis Blume) in their northern distribution in China using 17 bi-parentally inherited nSSRs markers and five maternally inherited chloroplast DNA (cpDNA) fragments. Both the cpDNA and the nSSRs show a high level of genetic differentiation between different oak sections. The chloroplast haplotypes are clustered into two lineages. Clear species boundaries are detected between Q. variabilis and either Q. aliena or Q. dentata. The sharing of chloroplast haplotype H1 between Q. aliena and Q. dentata suggests very recent speciation and incomplete lineage sorting or introgression of H1 from one species to another. The nSSRs data indicate a complete fixation of variation within sites for all three oak species, and that extensive gene flow occurs within species whereas only limited gene flow is detected between Q. aliena and Q. dentata and nearly no gene flow can be detected between Q. aliena and Q. variabilis and between Q. dentata and Q. variabilis. Prezygotic isolation may have contributed to the species boundaries of these three sympatric oak species. PMID:29662501

Machine-learning classification of 22q11.2 deletion syndrome: A diffusion tensor imaging study.

PubMed

Tylee, Daniel S; Kikinis, Zora; Quinn, Thomas P; Antshel, Kevin M; Fremont, Wanda; Tahir, Muhammad A; Zhu, Anni; Gong, Xue; Glatt, Stephen J; Coman, Ioana L; Shenton, Martha E; Kates, Wendy R; Makris, Nikos

2017-01-01

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental syndrome that has been studied intensively in order to understand relationships between the genetic microdeletion, brain development, cognitive function, and the emergence of psychiatric symptoms. White matter microstructural abnormalities identified using diffusion tensor imaging methods have been reported to affect a variety of neuroanatomical tracts in 22q11.2DS. In the present study, we sought to combine two discovery-based approaches: (1) white matter query language was used to parcellate the brain's white matter into tracts connecting pairs of 34, bilateral cortical regions and (2) the diffusion imaging characteristics of the resulting tracts were analyzed using a machine-learning method called support vector machine in order to optimize the selection of a set of imaging features that maximally discriminated 22q11.2DS and comparison subjects. With this unique approach, we both confirmed previously-recognized 22q11.2DS-related abnormalities in the inferior longitudinal fasciculus (ILF), and identified, for the first time, 22q11.2DS-related anomalies in the middle longitudinal fascicle and the extreme capsule, which may have been overlooked in previous, hypothesis-guided studies. We further observed that, in participants with 22q11.2DS, ILF metrics were significantly associated with positive prodromal symptoms of psychosis.

Reduced NoGo-anteriorisation during continuous performance test in deletion syndrome 22q11.2.

PubMed

Romanos, Marcel; Ehlis, Ann-Christine; Baehne, Christina G; Jacob, Christian; Renner, Tobias J; Storch, Astrid; Briegel, Wolfgang; Walitza, Susanne; Lesch, Klaus-Peter; Fallgatter, Andreas J

2010-09-01

Deletion syndrome 22q11.2 (DS22q11.2) is a high-risk factor for psychiatric disorders. Alterations in brain morphology and function including the anterior cingulate cortex (ACC) are suggested to underlie the increased psychiatric disposition. We assessed response-inhibition in patients with DS22q11.2 (n=13) and healthy controls (n=13) matched for age, sex, and handedness by means of a Go-NoGo-Task during recording of a multi-channel electroencephalography (EEG). Analysis of event-related potentials (P300) resulted in an aberrant topographical pattern and NoGo-anteriorisation (NGA) as a parameter of medial prefrontal function was significantly reduced in patients with DS22q11.2 compared to controls. Differences in IQ between groups did not account for the findings. Source localization analysis (LORETA) revealed diminished left temporal brain activation during the Go-condition, but no altered ACC activation in DS22q11 during the NoGo-condition. Despite recent reports of structural alterations of the ACC in DS22q11.2 our findings suggest that response-inhibition mediated by the ACC is not impaired in DS22q11.2. Copyright (c) 2010 Elsevier Ltd. All rights reserved.

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

PubMed

Varela, Monica C; Simões-Sato, Alex Y; Kim, Chong A; Bertola, Débora R; De Castro, Claudia I E; Koiffmann, Celia P

2006-01-01

The association of obesity, phenotypic abnormalities and mental retardation characterizes syndromic obesity. Its most common form is the Prader-Willi syndrome (PWS-- neonatal hypotonia, poor sucking, delayed psychomotor development, hyperphagia, severe obesity, short stature, small hands and feet, hypogonadism, mild to moderate mental retardation and behavioral disorders). A PWS-like phenotype has been described in patients with chromosome abnormalities involving the chromosome region 6q16.2 that includes the SIM1 gene. Herein we report cytogenetic and gene studies including a screening for the SIM1 gene deletion, performed on 87 patients with PWS-like phenotype, and describe the fifth case of syndromic obesity with an interstitial deletion of the chromosome segment 6q16-q21 and suggest that mutational analysis and further studies of the parental origin of chromosome alterations of 6q16.2 in patients with and without PWS-like phenotype are needed to evaluate possible imprinting effects of SIM1 gene and establish the contribution that alterations in this gene makes to the etiology of syndromic and non-syndromic obesity.

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.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome

PubMed Central

Boot, Erik; Butcher, Nancy J; van Amelsvoort, Thérèse AMJ; Lang, Anthony E; Marras, Connie; Pondal, Margarita; Andrade, Danielle M; Fung, Wai Lun Alan; Bassett, Anne S

2015-01-01

Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. PMID:25684639

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

Transition metal dichalcogenide (WS2 and MoS2) saturable absorbers for Q-switched Er-doped fiber lasers

NASA Astrophysics Data System (ADS)

Li, Lu; Lv, Ruidong; Liu, Sicong; Wang, Xi; Wang, Yonggang; Chen, Zhendong; Wang, Jiang

2018-05-01

This report demonstrates a stable Q-switched Er-doped fiber laser with MoS2 (WS2)-based saturable absorber (SA) in the net normal dispersion regime. The SA is obtained by mixing MoS2 (WS2) nanosheets with polyvinyl alcohol (PVA) into polystyrene cells, and then evaporating them to form MoS2 (WS2)/PVA film. The modulation depth values for MoS2/PVA and WS2/PVA are measured to be 2.7% and 2.1% respectively. Employing the MoS2 (WS2)/PVA film in the Er-doped fiber laser cavity, stable Q-switching operation is achieved with central wavelength of 1560 nm. The shortest pulse durations of the two Q-switched fiber lasers are, respectively, 3.97 and 3.71 µs, and their maximum single pulse energies are measured to be 131.52 and 126.96 nJ. The experimental results clearly show that MoS2 (WS2) is a promising nonlinear material, and that improvements in Q-switching performance due to two SAs in the net normal dispersion regime might be helpful in the design of fiber lasers.

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.

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

Autism and Attachment: The Attachment Q-Sort

ERIC Educational Resources Information Center

Rutgers, Anna H.; Van Ijzendoorn, Marinus H.; Bakermans-Kranenburg, Marian J.; Swinkels, Sophie H. N.

2007-01-01

Children with autism are able to show secure attachment behaviours to their parents/caregivers. Most studies on attachment in children with autism used a (modified) Strange Situation Procedure (SSP) to examine attachment security. An advantage of the Attachment Q-Sort (AQS) over the SSP is that it can be attuned to the secure-base behaviour of…

Measurement of the Generalized Polarizabilities of the Proton in Virtual Compton Scattering at Q2=0.92 and 1.76 GeV2

NASA Astrophysics Data System (ADS)

Laveissière, G.; Todor, L.; Degrande, N.; Jaminion, S.; Jutier, C.; di Salvo, R.; van Hoorebeke, L.; Alexa, L. C.; Anderson, B. D.; Aniol, K. A.; Arundell, K.; Audit, G.; Auerbach, L.; Baker, F. T.; Baylac, M.; Berthot, J.; Bertin, P. Y.; Bertozzi, W.; Bimbot, L.; Boeglin, W. U.; Brash, E. J.; Breton, V.; Breuer, H.; Burtin, E.; Calarco, J. R.; Cardman, L. S.; Cavata, C.; Chang, C.-C.; Chen, J.-P.; Chudakov, E.; Cisbani, E.; Dale, D. S.; de Jager, C. W.; de Leo, R.; Deur, A.; D'Hose, N.; Dodge, G. E.; Domingo, J. J.; Elouadrhiri, L.; Epstein, M. B.; Ewell, L. A.; Finn, J. M.; Fissum, K. G.; Fonvieille, H.; Fournier, G.; Frois, B.; Frullani, S.; Furget, C.; Gao, H.; Gao, J.; Garibaldi, F.; Gasparian, A.; Gilad, S.; Gilman, R.; Glamazdin, A.; Glashausser, C.; Gomez, J.; Gorbenko, V.; Grenier, P.; Guichon, P. A.; Hansen, J. O.; Holmes, R.; Holtrop, M.; Howell, C.; Huber, G. M.; Hyde-Wright, C. E.; Incerti, S.; Iodice, M.; Jardillier, J.; Jones, M. K.; Kahl, W.; Kato, S.; Katramatou, A. T.; Kelly, J. J.; Kerhoas, S.; Ketikyan, A.; Khayat, M.; Kino, K.; Kox, S.; Kramer, L. H.; Kumar, K. S.; Kumbartzki, G.; Kuss, M.; Leone, A.; Lerose, J. J.; Liang, M.; Lindgren, R. A.; Liyanage, N.; Lolos, G. J.; Lourie, R. W.; Madey, R.; Maeda, K.; Malov, S.; Manley, D. M.; Marchand, C.; Marchand, D.; Margaziotis, D. J.; Markowitz, P.; Marroncle, J.; Martino, J.; McCormick, K.; McIntyre, J.; Mehrabyan, S.; Merchez, F.; Meziani, Z. E.; Michaels, R.; Miller, G. W.; Mougey, J. Y.; Nanda, S. K.; Neyret, D.; Offermann, E. A.; Papandreou, Z.; Pasquini, B.; Perdrisat, C. F.; Perrino, R.; Petratos, G. G.; Platchkov, S.; Pomatsalyuk, R.; Prout, D. L.; Punjabi, V. A.; Pussieux, T.; Quémenér, G.; Ransome, R. D.; Ravel, O.; Real, J. S.; Renard, F.; Roblin, Y.; Rowntree, D.; Rutledge, G.; Rutt, P. M.; Saha, A.; Saito, T.; Sarty, A. J.; Serdarevic, A.; Smith, T.; Smirnov, G.; Soldi, K.; Sorokin, P.; Souder, P. A.; Suleiman, R.; Templon, J. A.; Terasawa, T.; Tieulent, R.; Tomasi-Gustaffson, E.; Tsubota, H.; Ueno, H.; Ulmer, P. E.; Urciuoli, G. M.; Vanderhaeghen, M.; van de Vyver, R.; van der Meer, R. L.; Vernin, P.; Vlahovic, B.; Voskanyan, H.; Voutier, E.; Watson, J. W.; Weinstein, L. B.; Wijesooriya, K.; Wilson, R.; Wojtsekhowski, B. B.; Zainea, D. G.; Zhang, W.-M.; Zhao, J.; Zhou, Z.-L.

2004-09-01

We report a virtual Compton scattering study of the proton at low c.m. energies. We have determined the structure functions PLL-PTT/ɛ and PLT, and the electric and magnetic generalized polarizabilities (GPs) αE(Q2) and βM(Q2) at momentum transfer Q2=0.92 and 1.76 GeV2. The electric GP shows a strong falloff with Q2, and its global behavior does not follow a simple dipole form. The magnetic GP shows a rise and then a falloff; this can be interpreted as the dominance of a long-distance diamagnetic pion cloud at low Q2, compensated at higher Q2 by a paramagnetic contribution from πN intermediate states.

Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome

PubMed Central

Chan, Chrystal; Costain, Gregory; Ogura, Lucas; Silversides, Candice K.; Chow, Eva W.C.

2015-01-01

22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. Survival to reproductive age and beyond is now the norm. Several manifestations of this syndrome, such as congenital cardiac disease and neuropsychiatric disorders, may increase risk for adverse pregnancy outcomes in the general population. However, there are limited data on reproductive health in 22q11.2DS. We performed a retrospective chart review for 158 adults with 22q11.2DS (75 male, 83 female; mean age 34.3 years) and extracted key variables relevant to pregnancy and reproductive health. We present four illustrative cases as brief vignettes. There were 25 adults (21>age 35 years; 21 female) with a history of one or more pregnancies. Outcomes for women with 22q11.2DS, compared with expectations for the general population, showed a significantly elevated prevalence of small for gestational age liveborn offspring (p<0.001), associated mainly with infants with 22q11.2DS. Stillbirths also showed elevated prevalence (p<0.05). Not all observed adverse events appeared to be attributable to transmission of the 22q11.2 deletion. Recurring issues relevant to reproductive health in 22q11.2DS included the potential impact of maternal morbidities, inadequate social support, unsafe sexual practices, and delayed diagnosis of 22q11.2DS and/or lack of genetic counseling. These preliminary results emphasize the importance of early diagnosis and long term follow-up that could help facilitate genetic counseling for men and women with 22q11.2DS. We propose initial recommendations for pre-conception management, educational strategies, pre-natal planning, and preparation for possible high-risk pregnancy and/or delivery. PMID:25579115

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

PubMed

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

2017-06-01

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

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

PubMed

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

2016-03-01

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

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

Evaluation of 22q11.2 deletion in Cleft Palate patients

PubMed Central

Prabodha, L. B. Lahiru; Dias, Dayanath Kumara; Nanayakkara, B. Ganananda; de Silva, Deepthi C.; Chandrasekharan, N. Vishvanath; Ileyperuma, Isurani

2012-01-01

Background: Cleft palate is the commonest multifactorial epigenetic disorder with a prevalence of 0.43-2.45 per 1000. The objectives of this study were to evaluate the clinical features and identify the 22q11.2 deletion in patients with cleft palate in Sri Lanka. Materials and Methods: Cleft patients attending a Teaching Hospital in Sri Lanka were recruited for this study. The relevant data were obtained from review of case notes, interviews, and examination of patients according to a standard evaluation sheet. Quantitative multiplex polymerase chain reaction (PCR) was performed to identify the 22q11.2 deletion. A gel documentation system (Bio-Doc) was used to quantify the PCR product following electrophoresis on 0.8% agarose gel. Results and Conclusion: There were 162 cleft palate patients of whom 59% were females. A total of 92 cleft palate subjects (56.2%) had other associated clinical features. Dysmorphic features (25.27%) and developmental delays (25.27%) were the commonest medical problems encountered. The cleft was limited to the soft palate in 125 patients, while in 25 patients it involved both the hard and the soft palate. There were seven subjects with bifid uvula and five subjects with submucous cleft palate. None of the patients had 22q11.2 deletion in this study population. A multicentered large population-based study is needed to confirm the results of this study and to develop guidelines on the appropriate use of 22q11.2 deletion testing, which are valid for cleft palate patients in Sri Lanka. PMID:23483617

On the CO and N2 abundance in Comet Halley

NASA Technical Reports Server (NTRS)

Eberhardt, P.; Krankowsky, D.; Schulte, W.; Dolder, U.; Laemmerzahl, P.; Berthelier, J. J.; Woweries, J.; Stubbemann, U.; Hodges, R. R.; Hoffmann, J. H.

1986-01-01

The mass 28 amu/e signal observed in the neutral mode of the Giotto neutral gas mass spectrometer (NMS) is evaluated. At 1000 km from the nucleus number density n(CO)/ n(H2O) is less than or = 0.07. The production rate of CO as a parent molecule directly from the nucleus is thus less than 7% of the H2O production rate. However, CO is also produced from an extended source in the inner coma (r is less than 20,000 km) and at 20,000 km from the nucleus, for the total equivalent CO production rate 0.05 is less than or = Q(CO)/Q(H2O) is less than or = 0.15. For N2 an upper limit Q(N2)/Q(H2O) is less than or = 0.1 is derived. No parent molecule for the CO is identified in agreement with the NMS measurements. It is proposed that CO or a very short-lived parent is released in the coma from cometary dust grains, such as the CHON particles.

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.

Prediction of Stereochemistry using Q2MM

PubMed Central

2016-01-01

Conspectus The standard method of screening ligands for selectivity in asymmetric, transition metal-catalyzed reactions requires experimental testing of hundreds of ligands from ligand libraries. This “trial and error” process is costly in terms of time as well as resources and, in general, is scientifically and intellectually unsatisfying as it reveals little about the underlying mechanism behind the selectivity. The accurate computational prediction of stereoselectivity in enantioselective catalysis requires adequate conformational sampling of the selectivity-determining transition state but has to be fast enough to compete with experimental screening techniques to be useful for the synthetic chemist. Although electronic structure calculations are accurate and general, they are too slow to allow for sampling or fast screening of ligand libraries. The combined requirements can be fulfilled by using appropriately fitted transition state force fields (TSFFs) that represent the transition state as a minimum and allow fast conformational sampling using Monte Carlo. Quantum-guided molecular mechanics (Q2MM) is an automated force field parametrization method that generates accurate, reaction-specific TSFFs by fitting the functional form of an arbitrary force field using only electronic structure calculations by minimization of an objective function. A key feature that distinguishes the Q2MM method from many other automated parametrization procedures is the use of the Hessian matrix in addition to geometric parameters and relative energies. This alleviates the known problems of overfitting of TSFFs. After validation of the TSFF by comparison to electronic structure results for a test set and available experimental data, the stereoselectivity of a reaction can be calculated by summation over the Boltzman-averaged relative energies of the conformations leading to the different stereoisomers. The Q2MM method has been applied successfully to perform virtual ligand

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

Is classic pericentric inversion of chromosome 2 inv(2)(p11q13) associated with an increased risk of unbalanced chromosomes?

PubMed

Ferfouri, Fatma; Clement, Patrice; Gomes, Denise Molina; Minz, Marie; Amar, Edouard; Selva, Jacqueline; Vialard, François

2009-10-01

To study pericentric inversion segregation and interchromosomal effect on sperm for men heterozygous for inv(2)(p11q13), to assess the risk of miscarriage. Case report. Department of reproductive biology, cytogenetics, gynecology, and obstetrics. Seven patients heterozygous for inv(2)(p11q13) and five patients with normal karyotype with experience of recurrent spontaneous miscarriage. Fluorescence in situ hybridization on sperm with 2 p and 2q subtelomeric probes to screen for inversion segregation, and X, Y, and 18 centromeric probes to study interchromosomal effects. One thousand sperm were analyzed per experiment and per patient. Rate of unbalanced chromosomes and aneuploid sperm. The inv(2)(p11q13) patients showed a 0.3% rate of sperm with unbalanced chromosomes. For interchromosomal effects, a 0.6% aneuploid sperm rate was observed for patients heterozygous for inv(2)(p11q13). This is similar to the 0.5% rate observed for control patients. Inv(2)(p11q13) seems not to increase miscarriage for couples with men heterozygous for this inversion.

Generalized zeta function representation of groups and 2-dimensional topological Yang-Mills theory: The example of GL(2, #Mathematical Double-Struck Capital F#{sub q}) and PGL(2, #Mathematical Double-Struck Capital F#{sub q})

DOE Office of Scientific and Technical Information (OSTI.GOV)

Roche, Ph., E-mail: philippe.roche@univ-montp2.fr

We recall the relation between zeta function representation of groups and two-dimensional topological Yang-Mills theory through Mednikh formula. We prove various generalisations of Mednikh formulas and define generalization of zeta function representations of groups. We compute some of these functions in the case of the finite group GL(2, #Mathematical Double-Struck Capital F#{sub q}) and PGL(2, #Mathematical Double-Struck Capital F#{sub q}). We recall the table characters of these groups for any q, compute the Frobenius-Schur indicator of their irreducible representations, and give the explicit structure of their fusion rings.

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.

22q11.2 deletion carriers and schizophrenia-associated novel variants.

PubMed

Balan, S; Iwayama, Y; Toyota, T; Toyoshima, M; Maekawa, M; Yoshikawa, T

2014-01-01

The penetrance of schizophrenia risk in carriers of the 22q11.2 deletion is high but incomplete, suggesting the possibility of additional genetic defects. We performed whole exome sequencing on two individuals with 22q11.2 deletion, one with schizophrenia and the other who was psychosis-free. The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2). This study paves the way towards a more complete understanding of variant dose and genetic architecture in schizophrenia.

Interparental conflict, children's security with parents, and long-term risk of internalizing problems: A longitudinal study from ages 2 to 10.

PubMed

Brock, Rebecca L; Kochanska, Grazyna

2016-02-01

Although the negative impact of marital conflict on children has been amply documented, few studies have examined the process of risk in a long-term, longitudinal design. We examined parent-child attachment security as a mechanism that may account for the impact of interparental conflict on children's long-term risk of internalizing problems. Sixty-two community mothers, fathers, and children were followed from ages 2 to 10. Parents reported on their conflicts when their children were 2. Trained observers produced parent-child attachment security scores (Attachment Q-Set, Waters, 1987), based on lengthy naturalistic observations of the child with each parent. Parents rated children's internalizing problems at age 10. A conditional process model and bootstrap approach were implemented to examine conditional indirect effects of conflict on child internalizing problems through attachment security for girls versus boys. Maladaptive marital conflict (destructive strategies, severity of arguments) increased internalizing problems 8 years later due to the undermined security for girls, whereas negative emotional aftermath of conflict (unresolved, lingering tension) increased internalizing problems for both boys and girls. The emotional aftermath of conflict is often overlooked, yet it appears to be a key dimension influencing emotional security in the family system, with significant consequences for children's development.

Measurement of the generalized polarizabilities of the proton in virtual Compton scattering at Q2=0.92 and 1.76 GeV2.

PubMed

Laveissière, G; Todor, L; Degrande, N; Jaminion, S; Jutier, C; Di Salvo, R; Van Hoorebeke, L; Alexa, L C; Anderson, B D; Aniol, K A; Arundell, K; Audit, G; Auerbach, L; Baker, F T; Baylac, M; Berthot, J; Bertin, P Y; Bertozzi, W; Bimbot, L; Boeglin, W U; Brash, E J; Breton, V; Breuer, H; Burtin, E; Calarco, J R; Cardman, L S; Cavata, C; Chang, C-C; Chen, J-P; Chudakov, E; Cisbani, E; Dale, D S; de Jager, C W; De Leo, R; Deur, A; d'Hose, N; Dodge, G E; Domingo, J J; Elouadrhiri, L; Epstein, M B; Ewell, L A; Finn, J M; Fissum, K G; Fonvieille, H; Fournier, G; Frois, B; Frullani, S; Furget, C; Gao, H; Gao, J; Garibaldi, F; Gasparian, A; Gilad, S; Gilman, R; Glamazdin, A; Glashausser, C; Gomez, J; Gorbenko, V; Grenier, P; Guichon, P A M; Hansen, J O; Holmes, R; Holtrop, M; Howell, C; Huber, G M; Hyde-Wright, C E; Incerti, S; Iodice, M; Jardillier, J; Jones, M K; Kahl, W; Kato, S; Katramatou, A T; Kelly, J J; Kerhoas, S; Ketikyan, A; Khayat, M; Kino, K; Kox, S; Kramer, L H; Kumar, K S; Kumbartzki, G; Kuss, M; Leone, A; LeRose, J J; Liang, M; Lindgren, R A; Liyanage, N; Lolos, G J; Lourie, R W; Madey, R; Maeda, K; Malov, S; Manley, D M; Marchand, C; Marchand, D; Margaziotis, D J; Markowitz, P; Marroncle, J; Martino, J; McCormick, K; McIntyre, J; Mehrabyan, S; Merchez, F; Meziani, Z E; Michaels, R; Miller, G W; Mougey, J Y; Nanda, S K; Neyret, D; Offermann, E A J M; Papandreou, Z; Pasquini, B; Perdrisat, C F; Perrino, R; Petratos, G G; Platchkov, S; Pomatsalyuk, R; Prout, D L; Punjabi, V A; Pussieux, T; Quémenér, G; Ransome, R D; Ravel, O; Real, J S; Renard, F; Roblin, Y; Rowntree, D; Rutledge, G; Rutt, P M; Saha, A; Saito, T; Sarty, A J; Serdarevic, A; Smith, T; Smirnov, G; Soldi, K; Sorokin, P; Souder, P A; Suleiman, R; Templon, J A; Terasawa, T; Tieulent, R; Tomasi-Gustaffson, E; Tsubota, H; Ueno, H; Ulmer, P E; Urciuoli, G M; Vanderhaeghen, M; Van De Vyver, R; Van der Meer, R L J; Vernin, P; Vlahovic, B; Voskanyan, H; Voutier, E; Watson, J W; Weinstein, L B; Wijesooriya, K; Wilson, R; Wojtsekhowski, B B; Zainea, D G; Zhang, W-M; Zhao, J; Zhou, Z-L

2004-09-17

We report a virtual Compton scattering study of the proton at low c.m. energies. We have determined the structure functions P(LL)-P(TT)/epsilon and P(LT), and the electric and magnetic generalized polarizabilities (GPs) alpha(E)(Q2) and beta(M)(Q2) at momentum transfer Q(2)=0.92 and 1.76 GeV2. The electric GP shows a strong falloff with Q2, and its global behavior does not follow a simple dipole form. The magnetic GP shows a rise and then a falloff; this can be interpreted as the dominance of a long-distance diamagnetic pion cloud at low Q2, compensated at higher Q2 by a paramagnetic contribution from piN intermediate states.

Polarization transfer observables in elastic electron-proton scattering at Q2=2.5 , 5.2, 6.8, and 8.5 GeV2

NASA Astrophysics Data System (ADS)

Puckett, A. J. R.; Brash, E. J.; Jones, M. K.; Luo, W.; Meziane, M.; Pentchev, L.; Perdrisat, C. F.; Punjabi, V.; Wesselmann, F. R.; Afanasev, A.; Ahmidouch, A.; Albayrak, I.; Aniol, K. A.; Arrington, J.; Asaturyan, A.; Baghdasaryan, H.; Benmokhtar, F.; Bertozzi, W.; Bimbot, L.; Bosted, P.; Boeglin, W.; Butuceanu, C.; Carter, P.; Chernenko, S.; Christy, M. E.; Commisso, M.; Cornejo, J. C.; Covrig, S.; Danagoulian, S.; Daniel, A.; Davidenko, A.; Day, D.; Dhamija, S.; Dutta, D.; Ent, R.; Frullani, S.; Fenker, H.; Frlez, E.; Garibaldi, F.; Gaskell, D.; Gilad, S.; Gilman, R.; Goncharenko, Y.; Hafidi, K.; Hamilton, D.; Higinbotham, D. W.; Hinton, W.; Horn, T.; Hu, B.; Huang, J.; Huber, G. M.; Jensen, E.; Keppel, C.; Khandaker, M.; King, P.; Kirillov, D.; Kohl, M.; Kravtsov, V.; Kumbartzki, G.; Li, Y.; Mamyan, V.; Margaziotis, D. J.; Marsh, A.; Matulenko, Y.; Maxwell, J.; Mbianda, G.; Meekins, D.; Melnik, Y.; Miller, J.; Mkrtchyan, A.; Mkrtchyan, H.; Moffit, B.; Moreno, O.; Mulholland, J.; Narayan, A.; Nedev, S.; Nuruzzaman, Piasetzky, E.; Pierce, W.; Piskunov, N. M.; Prok, Y.; Ransome, R. D.; Razin, D. S.; Reimer, P.; Reinhold, J.; Rondon, O.; Shabestari, M.; Shahinyan, A.; Shestermanov, K.; Širca, S.; Sitnik, I.; Smykov, L.; Smith, G.; Solovyev, L.; Solvignon, P.; Subedi, R.; Tomasi-Gustafsson, E.; Vasiliev, A.; Veilleux, M.; Wojtsekhowski, B. B.; Wood, S.; Ye, Z.; Zanevsky, Y.; Zhang, X.; Zhang, Y.; Zheng, X.; Zhu, L.

2017-11-01

Background: Interest in the behavior of nucleon electromagnetic form factors at large momentum transfers has steadily increased since the discovery, using polarization observables, of the rapid decrease of the ratio GEp/GMp of the proton's electric and magnetic form factors for momentum transfers Q2≳1 GeV2, in strong disagreement with previous extractions of this ratio using the traditional Rosenbluth separation technique. Purpose: The GEp-III and GEp -2 γ experiments were carried out in Jefferson Laboratory's (JLab's) Hall C from 2007 to 2008, to extend the knowledge of GEp/GMp to the highest practically achievable Q2 given the maximum beam energy of 6 GeV and to search for effects beyond the Born approximation in polarization transfer observables of elastic e ⃗p scattering. This article provides an expanded description of the common experimental apparatus and data analysis procedures, and reports the results of a final reanalysis of the data from both experiments, including the previously unpublished results of the full-acceptance dataset of the GEp -2 γ experiment. Methods: Polarization transfer observables in elastic e ⃗p →e p ⃗ scattering were measured at central Q2 values of 2.5, 5.2, 6.8, and 8.54 GeV2. At Q2=2.5 GeV2 , data were obtained for central values of the virtual photon polarization parameter ɛ of 0.149, 0.632, and 0.783. The Hall C High Momentum Spectrometer detected and measured the polarization of protons recoiling elastically from collisions of JLab's polarized electron beam with a liquid hydrogen target. A large-acceptance electromagnetic calorimeter detected the elastically scattered electrons in coincidence to suppress inelastic backgrounds. Results: The final GEp-III data are largely unchanged relative to the originally published results. The statistical uncertainties of the final GEp -2 γ data are significantly reduced at ɛ =0.632 and 0.783 relative to the original publication. Conclusions: The final GEp-III results show that

BFV-BRST analysis of the classical and quantum q-deformations of the sl(2) algebra

NASA Astrophysics Data System (ADS)

Dayi, O. F.

1994-01-01

BFV--BRST charge for q-deformed algebras is not unique. Different constructions of it in the classical as well as in the quantum phase space for the $q$-deformed algebra sl_q(2) are discussed. Moreover, deformation of the phase space without deforming the generators of sl(2) is considered. $\\hbar$-q-deformation of the phase space is shown to yield the Witten's second deformation. To study the BFV--BRST cohomology problem when both the quantum phase space and the group are deformed, a two parameter deformation of sl(2) is proposed, and its BFV-BRST charge is given.

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

Light resonances and the low-q2 bin of RK*$$ {R}_{K^{*}} $$

DOE Office of Scientific and Technical Information (OSTI.GOV)

Altmannshofer, Wolfgang; Baker, Michael J.; Gori, Stefania

LHCb has reported hints of lepton-flavor universality violation in the rare decaysmore » $$B \\to K^{(*)} \\ell^+\\ell^-$$, both in high- and low-$q^2$ bins. Although the high-$q^2$ hint may be explained by new short-ranged interactions, the low-$q^2$ one cannot. We thus explore the possibility that the latter is explained by a new light resonance. We find that LHCb's central value of $$R_{K^*}$$ in the low-$q^2$ bin is achievable in a restricted parameter space of new-physics scenarios in which the new, light resonance decays preferentially to electrons and has a mass within approximately $10$ MeV of the di-muon threshold. Interestingly, such an explanation can have a kinematic origin and does not require a source of lepton-flavor universality violation. A model-independent prediction is a narrow peak in the differential $$B \\to K^* e^+e^-$$ rate close to the di-muon threshold. If such a peak is observed, other observables, such as the differential $$B \\to K e^+e^-$$ rate and $$R_K$$, may be employed to distinguish between models. However, if a low-mass resonance is not observed and the low-$q^2$ anomaly increases in significance, then the case for an experimental origin of the lepton-flavor universality violating anomalies would be strengthened. Finally, to further explore this, we also point out that, in analogy to $$J/\\psi$$ decays, $e^+e^-$ and $$\\mu^+\\mu^-$$ decays of $$\\phi$$ mesons can be used as a cross check of lepton-flavor universality by LHCb with $5$ fb$$^{-1}$$ of integrated luminosity.« less

Light resonances and the low-q2 bin of RK*$$ {R}_{K^{*}} $$

DOE PAGES

Altmannshofer, Wolfgang; Baker, Michael J.; Gori, Stefania; ...

2018-03-29

LHCb has reported hints of lepton-flavor universality violation in the rare decaysmore » $$B \\to K^{(*)} \\ell^+\\ell^-$$, both in high- and low-$q^2$ bins. Although the high-$q^2$ hint may be explained by new short-ranged interactions, the low-$q^2$ one cannot. We thus explore the possibility that the latter is explained by a new light resonance. We find that LHCb's central value of $$R_{K^*}$$ in the low-$q^2$ bin is achievable in a restricted parameter space of new-physics scenarios in which the new, light resonance decays preferentially to electrons and has a mass within approximately $10$ MeV of the di-muon threshold. Interestingly, such an explanation can have a kinematic origin and does not require a source of lepton-flavor universality violation. A model-independent prediction is a narrow peak in the differential $$B \\to K^* e^+e^-$$ rate close to the di-muon threshold. If such a peak is observed, other observables, such as the differential $$B \\to K e^+e^-$$ rate and $$R_K$$, may be employed to distinguish between models. However, if a low-mass resonance is not observed and the low-$q^2$ anomaly increases in significance, then the case for an experimental origin of the lepton-flavor universality violating anomalies would be strengthened. Finally, to further explore this, we also point out that, in analogy to $$J/\\psi$$ decays, $e^+e^-$ and $$\\mu^+\\mu^-$$ decays of $$\\phi$$ mesons can be used as a cross check of lepton-flavor universality by LHCb with $5$ fb$$^{-1}$$ of integrated luminosity.« less

Supporting Teen Parents: A Q&A with the Young Families Committee of NOAPPP

ERIC Educational Resources Information Center

Prevention Researcher, 2004

2004-01-01

Many professionals who work with youth have adolescent parents within their clientele yet don't have the demand to create special programs for these youth. Information regarding ways to assist teen parents in the normal course of the day, without developing a teen parent program, is difficult to find. Questions about supporting teen parents were…

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.

Identifying patterns of anxiety and depression in children with chromosome 22q11.2 deletion syndrome: Comorbidity predicts behavioural difficulties and impaired functional communications

PubMed Central

Stephenson, David D.; Beaton, Elliott A.; Weems, Carl F.; Angkustsiri, Kathleen; Simon, Tony J.

2014-01-01

Background Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex genetic disorder with a variable clinical presentation that can include cardiac, neural, immunological, and psychological issues. Previous studies have measured elevated anxiety and depression in children with 22q11.2DS. Comorbity of anxiety and depression is well established in the pediatric literature but the nature of comorbidity patterns has not been empirically established in children with 22q11.2DS. Comorbidity of anxiety and depression has important implications for treatment and prognosis, and may be a marker of risk in this population of children at high-risk for developing schizophrenia. Method Participants were 131 boys and girls ages 8 to 14 with (n = 76) and without (n = 55) 22q11.2DS and their mothers. Children and mothers independently completed self- and parent-report measures of anxiety and depression. Mothers also completed measures of behavioural functioning including the Behavioral Assessment for Children, 2nd ed. (BASC-2). Cluster analyses were conducted to test if theoretically based groupings of anxiety and depression could be identified. We hypothesized four psychological profiles based on child- and mother-reports: low/no anxiety and low/no depression, higher depression and low/no anxiety, higher anxiety and no/low depression, and a comorbid profile of higher anxiety and higher depression. BASC-2 subscale scores were then compared across subgroups of children to determine if a comorbid profile would predict greater behavioural difficulties. Results In the full sample of children both with and without 22q11.2DS, cluster analyses of self and maternal reported anxiety and depression revealed the expected subgroups: 1) a group of children with higher anxiety/lower depression (anxious); 2) a group with primary depression (lower anxiety/higher depression (depressed); 3) a comorbid group with higher anxiety/higher depression (comorbid); and, 4) a lowest anxiety

Subthreshold social cognitive deficits may be a key to distinguish 22q11.2DS from schizophrenia.

PubMed

Peyroux, Elodie; Rigard, Caroline; Saucourt, Guillaume; Poisson, Alice; Plasse, Julien; Franck, Nicolas; Demily, Caroline

2018-03-25

Social cognitive impairments are core features in 22q11.2 deletion syndrome (22q11.2DS) and schizophrenia (SCZ). Indeed, adults with 22q.11.2 DS often have poorer social competence as well as poorer performance on measures of social cognitive skills (emotion recognition and theory of mind, ToM) compared with typically developing people. However, studies comparing specific social cognitive components in 22q11.2DS and SCZ have not yet been widely conducted. In this study we compared performances of 22q11.2DS and SCZ on both facial emotion recognition and ToM. Patients with 22q11.2DS (n = 18) and matched SCZ patients were recruited. After neuropsychological testing, the facial emotion recognition test assessed the patients' ability to recognize six basic, universal emotions (joy, anger, sadness, fear, disgust, and contempt). The Versailles-situational intentional reading evaluated ToM with six scenes from movies showing characters in complex interactions (involving hints, lies, and indirect speech). We show that 22q11.2DS exhibited significantly lower performance in emotion recognition than SCZ patients did, especially for disgust, contempt, and fear. This impairment seems to be a core cognitive phenotype in 22q11.2DS, regardless of the presence of SCZ symptoms. Concerning ToM, our results may highlight the same impairment level in 22q11.2DS and SCZ but require to be replicated in a larger cohort. Our results document the existence of threshold social cognitive deficits distinguishing 22q11.2DS from SCZ. © 2018 John Wiley & Sons Australia, Ltd.

MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome

PubMed Central

Merico, Daniele; Costain, Gregory; Butcher, Nancy J.; Warnica, William; Ogura, Lucas; Alfred, Simon E.; Brzustowicz, Linda M.; Bassett, Anne S.

2014-01-01

The role of microRNAs (miRNAs) in the etiology of schizophrenia is increasingly recognized. Microdeletions at chromosome 22q11.2 are recurrent structural variants that impart a high risk for schizophrenia and are found in up to 1% of all patients with schizophrenia. The 22q11.2 deletion region overlaps gene DGCR8, encoding a subunit of the miRNA microprocessor complex. We identified miRNAs overlapped by the 22q11.2 microdeletion and for the first time investigated their predicted target genes, and those implicated by DGCR8, to identify targets that may be involved in the risk for schizophrenia. The 22q11.2 region encompasses seven validated or putative miRNA genes. Employing two standard prediction tools, we generated sets of predicted target genes. Functional enrichment profiles of the 22q11.2 region miRNA target genes suggested a role in neuronal processes and broader developmental pathways. We then constructed a protein interaction network of schizophrenia candidate genes and interaction partners relevant to brain function, independent of the 22q11.2 region miRNA mechanisms. We found that the predicted gene targets of the 22q11.2 deletion miRNAs, and targets of the genome-wide miRNAs predicted to be dysregulated by DGCR8 hemizygosity, were significantly represented in this schizophrenia network. The findings provide new insights into the pathway from 22q11.2 deletion to expression of schizophrenia, and suggest that hemizygosity of the 22q11.2 region may have downstream effects implicating genes elsewhere in the genome that are relevant to the general schizophrenia population. These data also provide further support for the notion that robust genetic findings in schizophrenia may converge on a reasonable number of final pathways. PMID:25484875

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

PubMed Central

Schneider, Maude; Debbané, Martin; Bassett, Anne S.; Chow, Eva W.C.; Fung, Wai Lun Alan; van den Bree, Marianne B.M.; Owen, Michael; Murphy, Kieran C.; Niarchou, Maria; Kates, Wendy R.; Antshel, Kevin M.; Fremont, Wanda; McDonald-McGinn, Donna M.; Gur, Raquel E.; Zackai, Elaine H.; Vorstman, Jacob; Duijff, Sasja N.; Klaassen, Petra W.J.; Swillen, Ann; Gothelf, Doron; Green, Tamar; Weizman, Abraham; Van Amelsvoort, Therese; Evers, Laurens; Boot, Erik; Shashi, Vandana; Hooper, Stephen R.; Bearden, Carrie E.; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Murphy, Declan G.; Ousley, Opal; Campbell, Linda E.; Simon, Tony J.; Eliez, Stephan

2014-01-01

Objective Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. The associations among psychopathology, intellect, and functioning were examined in a subgroup of participants. Method The 1,402 participants with 22q11.2 deletion syndrome, ages 6–68 years, were assessed for psychiatric disorders with validated diagnostic instruments. Data on intelligence and adaptive functioning were available for 183 participants ages 6 to 24 years. Results Attention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents. Anxiety and unipolar mood disorders were overrepresented in females. Psychotic disorders were present in 41% of adults over age 25. Males did not predominate in psychotic or autism spectrum disorders. Hierarchical regressions in the subgroup revealed that daily living skills were predicted by the presence of anxiety disorders. Psychopathology was not associated with communication or socialization skills. Conclusions To the authors' knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome. PMID:24577245

A key role for foxQ2 in anterior head and central brain patterning in insects

PubMed Central

Kitzmann, Peter; Weißkopf, Matthias; Schacht, Magdalena Ines

2017-01-01

ABSTRACT Anterior patterning of animals is based on a set of highly conserved transcription factors but the interactions within the protostome anterior gene regulatory network (aGRN) remain enigmatic. Here, we identify the red flour beetle Tribolium castaneum ortholog of foxQ2 (Tc-foxQ2) as a novel upstream component of the aGRN. It is required for the development of the labrum and higher order brain structures, namely the central complex and the mushroom bodies. We reveal Tc-foxQ2 interactions by RNAi and heat shock-mediated misexpression. Surprisingly, Tc-foxQ2 and Tc-six3 mutually activate each other, forming a novel regulatory module at the top of the aGRN. Comparisons of our results with those of sea urchins and cnidarians suggest that foxQ2 has acquired more upstream functions in the aGRN during protostome evolution. Our findings expand the knowledge on foxQ2 gene function to include essential roles in epidermal development and central brain patterning. PMID:28811313

A patient with 22q11.2 deletion syndrome: case report.

PubMed

Eryılmaz, Sema Kabataş; Baş, Firdevs; Satan, Ali; Darendeliler, Feyza; Bundak, Rüveyde; Günöz, Hülya; Saka, Nurçin

2009-01-01

22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech development due to velofacial dysfunction, recurrent croup attacks in early childhood due to latent hypocalcemia and mild dysmorphic features. The findings of this patient indicate that 22q11 deletion syndrome may present with a wide spectrum of clinical findings and that this diagnosis needs to be considered even in patients of older ages presenting with hypocalcemia.

Simplified parent-child formalism for spin-0 and spin-1/2 parents

NASA Astrophysics Data System (ADS)

Butcher, J. B.; Jones, H. F.; Milani, P.

1980-06-01

We develop further the parent-child relation, that is the calculation of the cross-sections and correlations of observed particles, typically charged leptons, arising from the decay of long-lived primarily produced “parent” particles. In the high-momentum regime, when the momenta of parent and child are closely aligned, we show how, for spinless parents, the relation can be simplified by the introduction of “fragmentation” functions derived from the invariant inclusive decay distributions. We extend the formalism to the case of spin-1/2 parents and advocate its application to charm production and decay at the quark level.

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.

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.

The maintenance effect of cognitive-behavioural treatment groups for the Chinese parents of children with intellectual disabilities in Melbourne, Australia: a 6-month follow-up study.

PubMed

Wong, D F K; Poon, A; Kwok, Y C Lai

2011-11-01

Caring for a child with intellectual disability can be stressful. No data on the longer-term effects of cognitive-behavioural treatment (CBT) on parents from a Chinese-speaking background who have children with intellectual disabilities are available in the literature. This study attempted to fill this research gap by examining the maintenance effect of CBT among the Chinese parents of such children in Melbourne, Australia. Thirty-nine participants took part in our CBT groups and attended follow-up meetings. A questionnaire comprising four instruments, the Parenting Stress Index (PS) - Parent Domain, General Health Questionnaire-12 (GHQ-12), Abbreviated Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q-18) and Dysfunctional Attitude Scale (DAS), was administered to the participants at the pre- and post-test stage and at the 6-month follow-up. One-way repeated-measures analyses of variance revealed significant time and group effects in the PS (F(2,27) = 16.93, P < 0.001), Q-LES-Q-18 (F(2,27) = 15.98, P < 0.001), GHQ-12 (F(2,27) = 81.93, P < 0.001) and DAS (F(2,27) = 15.50, P < 0.001) scores at the three measurement times. The participants continued to maintain significant improvements in mental health and quality of life and declines in the severity of parenting stress and dysfunctional attitudes at the 6-month follow-up. Effect size analyses revealed mostly large differences in the foregoing measurements (Cohen's d = 0.76-2.18) between the pre-test and 6-month follow-up. Employing a cut-off score of 3/4 in the GHQ-12 to identify at-risk and not-at-risk cases, approximately 90.5% of the participants could be classified as not-at-risk at the follow-up. Lastly, regression analyses showed that changes in DAS scores significantly predicted changes in the GHQ-12 and Q-LES-Q-18 scores at the follow-up. This study provides preliminary evidence of the 6-month maintenance effect of CBT groups for the Melbourne-resident Chinese parents of children with

Cognitive Development of Toddlers: Does Parental Stimulation Matter?

PubMed

Malhi, Prahbhjot; Menon, Jagadeesh; Bharti, Bhavneet; Sidhu, Manjit

2018-02-01

To examine the impact of quality of early stimulation on cognitive functioning of toddlers living in a developing country. The developmental functioning of 150 toddlers in the age range of 12-30 mo (53% boys; Mean = 1.76 y, SD = 0.48) was assessed by the mental developmental index of the Developmental Assessment Scale for Indian Infants (DASII). The StimQ questionnaire- toddler version was used to measure cognitive stimulation at home. The questionnaire consists of four subscales including availability of learning materials (ALM), reading activities (READ), parent involvement in developmental activities (PIDA), and parent verbal responsivity (PVR). Multivariate regression analysis was used to predict cognitive scores using demographic (age of child), socio-economic status (SES) (income, parental education), and home environment (subscale scores of StimQ) as independent variables. Mean Mental Development Index (MDI) score was 91.5 (SD = 13.41), nearly one-fifth (17.3%) of the toddlers had MDI scores less than 80 (cognitive delay). Children with cognitive delay, relative to typically developing (TD, MDI score ≥ 80) cohort of toddlers, had significantly lower scores on all the subscales of StimQ and the total StimQ score. Despite the overall paucity of learning materials available to toddlers, typical developing toddlers were significantly more likely to have access to symbolic toys (P = 0.004), art materials (P = 0.032), adaptive/fine motor toys (P = 0.018), and life size toys (P = 0.036). Multivariate regression analysis results indicated that controlling for confounding socio-economic status variables, higher parental involvement in developmental activities (PIDA score) and higher parental verbal responsivity (PVR score) emerged as significant predictors of higher MDI scores and explained 34% of variance in MDI scores (F = 23.66, P = 0.001). Disparities in child development emerge fairly early and these differences are not

Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.

PubMed

Quinzii, Catarina M; Garone, Caterina; Emmanuele, Valentina; Tadesse, Saba; Krishna, Sindu; Dorado, Beatriz; Hirano, Michio

2013-02-01

Primary human CoQ(10) deficiencies are clinically heterogeneous diseases caused by mutations in PDSS2 and other genes required for CoQ(10) biosynthesis. Our in vitro studies of PDSS2 mutant fibroblasts, with <20% CoQ(10) of control cells, revealed reduced activity of CoQ(10)-dependent complex II+III and ATP synthesis, without amplification of reactive oxygen species (ROS), markers of oxidative damage, or antioxidant defenses. In contrast, COQ2 and ADCK3 mutant fibroblasts, with 30-50% CoQ(10) of controls, showed milder bioenergetic defects but significantly increased ROS and oxidation of lipids and proteins. We hypothesized that absence of oxidative stress markers and cell death in PDSS2 mutant fibroblasts were due to the extreme severity of CoQ(10) deficiency. Here, we have investigated in vivo effects of Pdss2 deficiency in affected and unaffected organs of CBA/Pdss2(kd/kd) mice at presymptomatic, phenotypic-onset, and end-stages of the disease. Although Pdss2 mutant mice manifest widespread CoQ(9) deficiency and mitochondrial respiratory chain abnormalities, only affected organs show increased ROS production, oxidative stress, mitochondrial DNA depletion, and reduced citrate synthase activity, an index of mitochondrial mass. Our data indicate that kidney-specific loss of mitochondria triggered by oxidative stress may be the cause of renal failure in Pdss2(kd/kd) mice.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

PubMed

Mlynarski, Elisabeth E; Xie, Michael; Taylor, Deanne; Sheridan, Molly B; Guo, Tingwei; Racedo, Silvia E; McDonald-McGinn, Donna M; Chow, Eva W C; Vorstman, Jacob; Swillen, Ann; Devriendt, Koen; Breckpot, Jeroen; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J; Roberts, Amy E; Piotrowicz, Małgorzata; Bearden, Carrie E; Eliez, Stephan; Gothelf, Doron; Coleman, Karlene; Kates, Wendy R; Devoto, Marcella; Zackai, Elaine; Heine-Suñer, Damian; Goldmuntz, Elizabeth; Bassett, Anne S; Morrow, Bernice E; Emanuel, Beverly S

2016-03-01

The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variable; approximately 60-75 % of 22q11DS patients have been reported to have a congenital heart defect (CHD), mostly of the conotruncal type, and/or aortic arch defect. The etiology of the cardiac phenotypic variability is not currently known for the majority of patients. We hypothesized that rare copy number variants (CNVs) outside the 22q11.2 deleted region may modify the risk of being born with a CHD in this sensitized population. Rare CNV analysis was performed using Affymetrix SNP Array 6.0 data from 946 22q11DS subjects with CHDs (n = 607) or with normal cardiac anatomy (n = 339). Although there was no significant difference in the overall burden of rare CNVs, an overabundance of CNVs affecting cardiac-related genes was detected in 22q11DS individuals with CHDs. When the rare CNVs were examined with regard to gene interactions, specific cardiac networks, such as Wnt signaling, appear to be overrepresented in 22q11DS CHD cases but not 22q11DS controls with a normal heart. Collectively, these data suggest that CNVs outside the 22q11.2 region may contain genes that modify risk for CHDs in some 22q11DS patients.

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

PubMed

Palumbo, Orazio; Fichera, Marco; Palumbo, Pietro; Rizzo, Renata; Mazzolla, Elisabetta; Cocuzza, Donatella Maria; Carella, Massimo; Mattina, Teresa

2014-03-01

Interstitial deletion of 2q24.2 is a rarely described cytogenetic aberration in patients with intellectual disability (ID). Previously reported genotype-phenotype correlation identified a minimum deleted region of 2.65 Mb including 15 genes. Recently, a patient with a de novo 2q24.2 microdeletion of 0.4 Mb encompassing only three genes was described. However, the precise relationship between most deleted genes and the clinical features remains unclear. Here we describe a 12-year-old male patient diagnosed with growth retardation and ID. He also showed microcephaly, right palpebral ptosis, scapular winging, and pectus excavatum. Single nucleotide polymorphisms (SNP) array analysis showed a de novo interstitial deletion of 0.122 Mb at 2q24.2 region harboring only TBR1 (T-box, brain, 1; OMIM: 604616), which encodes a T-box family transcription factor expressed in post-mitotic projection neurons and functionally significant in embryologic corticogenesis. This is the first case of a deletion at 2q24.2 involving only TBR1. This finding narrows the smallest region of overlap (SRO) for deletions in this region and strengthens the previously suggested hypothesis that this gene is a strong candidate for the ID phenotype. The identification of TBR1 as candidate for ID encourages further molecular studies to identify novel mutations to understand the pathogenic effects of its haploinsufficiency. Finally, this report provides a review on 10 2q24.2 microdeletion patients. © 2014 Wiley Periodicals, Inc.

Surrogacy families: parental functioning, parent-child relationships and children's psychological development at age 2.

PubMed

Golombok, Susan; MacCallum, Fiona; Murray, Clare; Lycett, Emma; Jadva, Vasanti

2006-02-01

Findings are presented of the second phase of a longitudinal study of families created through surrogacy. At the time of the child's 2nd birthday, 37 surrogacy families were compared with 48 egg donation families and 68 natural conception families on standardised interview and questionnaire measures of the psychological well-being of the parents, parent-child relationships and the psychological functioning of the child. The surrogacy mothers showed more positive parent-child relationships, and the surrogacy fathers reported lower levels of parenting stress, than their natural conception counterparts. The surrogacy children did not differ from the natural conception children with respect to socio-emotional or cognitive development. Surrogacy does not appear to impact negatively on parenting or child development in families with 2-year-old children.

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

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

17 CFR 270.30a-2 - Certification of Form N-CSR and Form N-Q.

Code of Federal Regulations, 2012 CFR

2012-04-01

... and Form N-Q. 270.30a-2 Section 270.30a-2 Commodity and Securities Exchanges SECURITIES AND EXCHANGE... Form N-CSR and Form N-Q. (a) Each report filed on Form N-CSR (§§ 249.331 and 274.128 of this chapter) or Form N-Q (§§ 249.332 and 274.130 of this chapter) by a registered management investment company...

17 CFR 270.30a-2 - Certification of Form N-CSR and Form N-Q.

Code of Federal Regulations, 2013 CFR

2013-04-01

... and Form N-Q. 270.30a-2 Section 270.30a-2 Commodity and Securities Exchanges SECURITIES AND EXCHANGE... Form N-CSR and Form N-Q. (a) Each report filed on Form N-CSR (§§ 249.331 and 274.128 of this chapter) or Form N-Q (§§ 249.332 and 274.130 of this chapter) by a registered management investment company...

17 CFR 270.30a-2 - Certification of Form N-CSR and Form N-Q.

Code of Federal Regulations, 2014 CFR

2014-04-01

... and Form N-Q. 270.30a-2 Section 270.30a-2 Commodity and Securities Exchanges SECURITIES AND EXCHANGE... Form N-CSR and Form N-Q. (a) Each report filed on Form N-CSR (§§ 249.331 and 274.128 of this chapter) or Form N-Q (§§ 249.332 and 274.130 of this chapter) by a registered management investment company...

Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome

ERIC Educational Resources Information Center

Van Eynde, Charlotte; Swillen, Ann; Lambeens, Elien; Verhaert, Nicolas; Desloovere, Christian; Luts, Heleen; Vander Poorten, Vincent; Devriendt, Koenraad; Hens, Greet

2016-01-01

Purpose: The purpose of this study was to clarify the prevalence, type, severity, and age-dependency of hearing loss in 22q11.2 deletion syndrome. Method: Extensive audiological measurements were conducted in 40 persons with proven 22q11.2 deletion (aged 6-36 years). Besides air and bone conduction thresholds in the frequency range between 0.125…

Parenting in 2 Worlds: Pilot Results from a Culturally Adapted Parenting Program for Urban American Indians

PubMed Central

Kulis, Stephen; Ayers, Stephanie L.; Baker, Tahnee

2014-01-01

This study reports the implementation and feasibility of a culturally adapted parenting curriculum, Parenting in 2 Worlds (P2W), which we designed specifically for urban American Indian families by means of community-based participatory research and then pilot tested in three Arizona cities. Data come from matched pre- and post-test surveys completed in 2012 by 75 American Indian parents of adolescents aged 10–17 who participated in the pilot version of P2W. P2W is a 10-workshop program administered twice a week for five weeks by trained American Indian community facilitators. Parents completed pretest surveys during Workshop 1 and post-test surveys five weeks later during Workshop 10. Paired t tests assessed changes in parenting outcomes, cultural identity, and child anti-social behavior. Changes from pre- to post-test demonstrated statistically significant improvements in several parenting outcomes (discipline, involvement, self-agency, and supervision), a strengthened sense of ethnic and cultural identity and Native spirituality, and a decrease in the child’s anti-social behavior. These results, which show significant if preliminary improvements in parenting skills and family functioning, suggest the feasibility of implementing a culturally grounded parenting intervention for urban American Indian parents. PMID:25367804

A Patient with 22q11.2 Deletion Syndrome: Case Report

PubMed Central

Baş, Firdevs; Satan, Ali; Darendeliler, Feyza; Bundak, Rüveyde; Günöz, Hülya; Saka, Nurçin

2009-01-01

22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech development due to velofacial dysfunction, recurrent croup attacks in early childhood due to latent hypocalcemia and mild dysmorphic features. The findings of this patient indicate that 22q11 deletion syndrome may present with a wide spectrum of clinical findings and that this diagnosis needs to be considered even in patients of older ages presenting with hypocalcemia. Conflict of interest:None declared. PMID:21274400

Discordance in Diagnoses and Treatment of Psychiatric Disorders in Children and Adolescents with 22q11.2 Deletion Syndrome

PubMed Central

Young, Andrea S.; Shashi, Vandana; Schoch, Kelly; Kwapil, Thomas; Hooper, Stephen R.

2011-01-01

This study examines the rate of utilization of mental health services in children and adolescents with 22q11DS relative to their remarkably high rate of psychiatric disorders and behavior problems. Seventy-two children and adolescents with 22q11DS were participants; their parents completed the Diagnostic Interview Schedule for Children (DISC) and the Child Behavior Checklist (CBCL). The results indicated that 22q11DS children and adolescents have higher rates of psychopathology than the general pediatric population, with ADHD and anxiety disorders being the most common. However, among youth with 22q11DS, those with psychopathology are often no more likely to receive either pharmacological or non-pharmacological mental health care than those without a given psychiatric diagnosis. Thus, although psychopathology is fairly common in this sample, many children with 22q11DS may not be receiving needed psychiatric care. These results have significant implications for these children and their families, as well as for the health care providers who treat them. In particular, the results may suggest a need for careful screening of psychiatric disorders that are likely to affect this population as well, as making appropriate treatment recommendations to remedy childhood mental health problems. Since these children face an extraordinarily high risk of psychoses in late adolescence/adulthood, treatment of childhood psychopathology could be crucial in mitigating the risk/consequences of major psychiatric illnesses in later life. PMID:21743818

Q2Stress: A database for multiple cues to stress assignment in Italian.

PubMed

Spinelli, Giacomo; Sulpizio, Simone; Burani, Cristina

2017-12-01

In languages where the position of lexical stress within a word is not predictable from print, readers rely on distributional information extracted from the lexicon in order to assign stress. Lexical databases are thus especially important for researchers willing to address stress assignment in those languages. Here we present Q2Stress, a new database aimed to fill the lack of such a resource for Italian. Q2Stress includes multiple cues readers may use in assigning stress, such as type and token frequency of stress patterns as well as their distribution with respect to number of syllables, grammatical category, word beginnings, word endings, and consonant-vowel structures. Furthermore, for the first time, data for both adults and children are available. Q2Stress may help researchers to answer empirical as well as theoretical questions about stress assignment and stress-related issues, and more in general, to explore the orthography-to-phonology relation in reading. Q2Stress is designed as a user-friendly resource, as it comes with scripts allowing researchers to explore and select their own stimuli according to several criteria as well as summary tables for overall data analysis.

Virtual Compton scattering and the generalized polarizabilities of the proton at Q2=0.92 and 1.76 GeV2

NASA Astrophysics Data System (ADS)

Fonvieille, H.; Laveissière, G.; Degrande, N.; Jaminion, S.; Jutier, C.; Todor, L.; Di Salvo, R.; Van Hoorebeke, L.; Alexa, L. C.; Anderson, B. D.; Aniol, K. A.; Arundell, K.; Audit, G.; Auerbach, L.; Baker, F. T.; Baylac, M.; Berthot, J.; Bertin, P. Y.; Bertozzi, W.; Bimbot, L.; Boeglin, W. U.; Brash, E. J.; Breton, V.; Breuer, H.; Burtin, E.; Calarco, J. R.; Cardman, L. S.; Cavata, C.; Chang, C.-C.; Chen, J.-P.; Chudakov, E.; Cisbani, E.; Dale, D. S.; de Jager, C. W.; De Leo, R.; Deur, A.; d'Hose, N.; Dodge, G. E.; Domingo, J. J.; Elouadrhiri, L.; Epstein, M. B.; Ewell, L. A.; Finn, J. M.; Fissum, K. G.; Fournier, G.; Frois, B.; Frullani, S.; Furget, C.; Gao, H.; Gao, J.; Garibaldi, F.; Gasparian, A.; Gilad, S.; Gilman, R.; Glamazdin, A.; Glashausser, C.; Gomez, J.; Gorbenko, V.; Grenier, P.; Guichon, P. A. M.; Hansen, J. O.; Holmes, R.; Holtrop, M.; Howell, C.; Huber, G. M.; Hyde, C. E.; Incerti, S.; Iodice, M.; Jardillier, J.; Jones, M. K.; Kahl, W.; Kato, S.; Katramatou, A. T.; Kelly, J. J.; Kerhoas, S.; Ketikyan, A.; Khayat, M.; Kino, K.; Kox, S.; Kramer, L. H.; Kumar, K. S.; Kumbartzki, G.; Kuss, M.; Leone, A.; LeRose, J. J.; Liang, M.; Lindgren, R. A.; Liyanage, N.; Lolos, G. J.; Lourie, R. W.; Madey, R.; Maeda, K.; Malov, S.; Manley, D. M.; Marchand, C.; Marchand, D.; Margaziotis, D. J.; Markowitz, P.; Marroncle, J.; Martino, J.; McCormick, K.; McIntyre, J.; Mehrabyan, S.; Merchez, F.; Meziani, Z. E.; Michaels, R.; Miller, G. W.; Mougey, J. Y.; Nanda, S. K.; Neyret, D.; Offermann, E. A. J. M.; Papandreou, Z.; Pasquini, B.; Perdrisat, C. F.; Perrino, R.; Petratos, G. G.; Platchkov, S.; Pomatsalyuk, R.; Prout, D. L.; Punjabi, V. A.; Pussieux, T.; Quémenér, G.; Ransome, R. D.; Ravel, O.; Real, J. S.; Renard, F.; Roblin, Y.; Rowntree, D.; Rutledge, G.; Rutt, P. M.; Saha, A.; Saito, T.; Sarty, A. J.; Serdarevic, A.; Smith, T.; Smirnov, G.; Soldi, K.; Sorokin, P.; Souder, P. A.; Suleiman, R.; Templon, J. A.; Terasawa, T.; Tieulent, R.; Tomasi-Gustaffson, E.; Tsubota, H.; Ueno, H.; Ulmer, P. E.; Urciuoli, G. M.; Vanderhaeghen, M.; Van der Meer, R. L. J.; Van De Vyver, R.; Vernin, P.; Vlahovic, B.; Voskanyan, H.; Voutier, E.; Watson, J. W.; Weinstein, L. B.; Wijesooriya, K.; Wilson, R.; Wojtsekhowski, B. B.; Zainea, D. G.; Zhang, W.-M.; Zhao, J.; Zhou, Z.-L.

2012-07-01

Virtual Compton scattering (VCS) on the proton has been studied at the Jefferson Laboratory using the exclusive photon electroproduction reaction ep→epγ. This paper gives a detailed account of the analysis which has led to the determination of the structure functions PLL-PTT/ɛ and PLT and the electric and magnetic generalized polarizabilities (GPs) αE(Q2) and βM(Q2) at values of the four-momentum transfer squared Q2=0.92 and 1.76 GeV2. These data, together with the results of VCS experiments at lower momenta, help building a coherent picture of the electric and magnetic GPs of the proton over the full measured Q2 range and point to their nontrivial behavior.

Physical Therapy (For Parents)

MedlinePlus

... Teens Teens site Sitio para adolescentes Body Mind Sexual Health Food & Fitness Diseases & Conditions Infections Drugs & Alcohol School & Jobs Sports Expert Answers (Q&A) Staying Safe Videos for Educators Search English Español Physical Therapy KidsHealth / For Parents / Physical Therapy Print en ...

Clinical manifestations and frequency of hypocalcemia in 22q11.2 deletion syndrome.

PubMed

Fujii, Sachiko; Nakanishi, Toshio

2015-12-01

This study investigated the evolution of hypocalcemia with age and its associated risk factors in patients with 22q11.2 deletion syndrome (22qDS) and congenital heart defects. A retrospective review of the medical records of 16 22qDS patients (nine female, seven male; age range, 20.5-43 years) was performed. The frequency of hypocalcemia, as well as the clinical course of the disease and the presence of other phenotypes, were investigated. Ten of the 16 patients (62.5%) had a history of hypocalcemia. Among the 10 patients, the first onset of hypocalcemia occurred in the following developmental periods: neonatal stage, n = 1; early childhood, n = 3; late childhood, n = 2; adolescence, n = 2; and adulthood, n = 2. Neonatal hypocalcemia was observed in one patient, but it was transient. Two patients had sustained hypocalcemia after cardiac surgery. Hypocalcemia in one patient was transient following cardiac surgery, but it recurred during early adulthood. One patient developed hypocalcemia at 43 years of age. Thymus defect tended to be correlated with history of hypocalcemia (P = 0.09). This condition was often transient (60%) and was triggered by physical stress, such as intracardiac surgery. In 22qDS patients, hypocalcemia was often mild and transient during childhood, but it may recur in adulthood. Routine clinical measurement of serum calcium is recommended, particularly in 22qDS patients with thymic defect or in patients who are under physical stress. © 2015 Japan Pediatric Society.

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

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.

Comparing the MMPI-2 Scale Scores of Parents Involved in Parental Competency and Child Custody Assessments

ERIC Educational Resources Information Center

Resendes, John; Lecci, Len

2012-01-01

MMPI-2 scores from a parent competency sample (N = 136 parents) are compared with a previously published data set of MMPI-2 scores for child custody litigants (N = 508 parents; Bathurst et al., 1997). Independent samples t tests yielded significant and in some cases substantial differences on the standard MMPI-2 clinical scales (especially Scales…

Deletion (11)(q14.1q21)

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.

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.

22q11.2 microduplication syndrome with congenital aural atresia: a family report.

PubMed

Boudewyns, An; van den Ende, Jenneke; Boiy, Tine; Van de Heyning, Paul; Declau, Frank

2012-06-01

22q11.2 microduplication syndrome is characterized by a large phenotypic variability including facial dysmorphism, developmental delay, and hearing loss. We describe a family in whom 5 of 11 children were affected by a unilateral or bilateral congenital aural atresia. Four of these 5 carried a 22q11.2 microduplication and had typical dysmorphic features. Computed tomography with 3-D reconstructions allowed for a detailed examination of the middle ear structures and classification of the atresia type. Audiometry revealed a moderately severe conductive hearing loss in accordance with the clinical and computed tomography findings. Detailed examination of the ear is warranted in patients with a 22q11.2 microduplication. When outer ear abnormalities are encountered, an additional workup including audiometry and computed tomography with 3-D reconstructions is required.

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...

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...

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...

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...

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...

Synthesis and electroluminescence characterization of a new aluminum complex, [8-hydroxyquinoline] bis [2, 2'bipyridine] aluminum Al(Bpy)2q

NASA Astrophysics Data System (ADS)

Rahul, Kumar; Ritu, Srivastava; Punita, Singh

2016-01-01

We have synthesized and characterized a new electroluminescent material, [8-hydroxyquinoline] bis [2,2'bipyridine] aluminum. A solution of this material Al(Bpy)2q in toluene showed absorption maxima at 380 nm, which was attributed to the moderate energy (π-π*) transitions of the aromatic rings. The photoluminescence spectrum of Al(Bpy)2q in the toluene solution showed a peak at 518 nm. This material shows thermal stability up to 300 °C. The structure of the device is ITO/F4-TCNQ (1 nm)/α-NPD (35 nm)/Al(Bpy)2q (35 nm)/ BCP (6 nm)/Alq3 (28 nm)/LiF (1 nm)/Al (150 nm). This device exhibited a luminescence peak at 515 nm (CIE coordinates, x = 0.32, y = 0.49). The maximum luminescence of the device was 214 cd/m2 at 21 V. The maximum current efficiency of OLED was 0.12 cd/A at 13 V and the maximum power efficiency was 0.03 lm/W at 10 V.

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.

PubMed

Pires, Renato; Pires, Luís M; Vaz, Sara O; Maciel, Paula; Anjos, Rui; Moniz, Raquel; Branco, Claudia C; Cabral, Rita; Carreira, Isabel M; Mota-Vieira, Luisa

2014-11-07

The rearrangements in the 22q11.2 chromosomal region, responsible for the 22q11.2 deletion and microduplication syndromes, are frequently associated with congenital heart disease (CHD). The present work aimed to identify the genetic basis of CHD in 87 patients from the São Miguel Island, Azores, through the detection of copy number variants (CNVs) in the 22q11.2 region. These structural variants were searched using multiplex ligation-dependent probe amplification (MLPA). In patients with CNVs, we additionally performed fluorescent in situ hybridization (FISH) for the assessment of the exact number of 22q11.2 copies among each chromosome, and array comparative genomic hybridization (array-CGH) for the determination of the exact length of CNVs. We found that four patients (4.6%; A to D) carried CNVs. Patients A and D, both affected with a ventricular septal defect, carried a de novo 2.5 Mb deletion of the 22q11.2 region, which was probably originated by inter-chromosomal (inter-chromatid) non-allelic homologous recombination (NAHR) events in the regions containing low-copy repeats (LCRs). Patient C, with an atrial septal defect, carried a de novo 2.5 Mb duplication of 22q11.2 region, which could have been probably generated during gametogenesis by NAHR or by unequal crossing-over; additionally, this patient presented a benign 288 Kb duplication, which included the TOP3B gene inherited from her healthy mother. Finally, patient B showed a 3 Mb triplication associated with dysmorphic facial features, cognitive deficit and heart defects, a clinical feature not reported in the only case described so far in the literature. The evaluation of patient B's parents revealed a 2.5 Mb duplication in her father, suggesting a paternal inheritance with an extra copy. This report allowed the identification of rare deletion and microduplication syndromes in Azorean CHD patients. Moreover, we report the second patient with a 22q11.2 triplication, and we suggest that patients with

Passive Q switching and mode-locking of Er:glass lasers using VO2 mirrors

NASA Astrophysics Data System (ADS)

Pollack, S. A.; Chang, D. B.; Chudnovky, F. A.; Khakhaev, I. A.

1995-09-01

Passive Q switching of an Er:glass laser with the pulse width varying between 14 and 80 ns has been demonstrated, using three resonator vanadium-dioxide-coated (VO2) mirror samples with temperature-dependent reflectivity and differing in the reflectivity contrast. The reflectivity changes because of a phase transition from a semiconductor to a metallic state. Broad band operating characteristics of VO2 mirrors provide Q switching over a wide range of wavelengths. In addition, mode-locked pulses with much shorter time scales have been observed, due to exciton formation and recombination. A simple criterion is derived for the allowable ambient temperatures at which the Q switching operates effectively. A simple relation has also been found relating the duration of the Q-switched pulse to the contrast in reflectivities of the two mirror phases.

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 3.5GeV2≤Q2≤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.

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.

Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology.

PubMed

Sanders, Ashley F P; Hobbs, Diana A; Stephenson, David D; Laird, Robert D; Beaton, Elliott A

2017-04-01

Stress and anxiety have a negative impact on working memory systems by competing for executive resources and attention. Broad memory deficits, anxiety, and elevated stress have been reported in individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS). We investigated anxiety and physiological stress reactivity in relation to visuospatial working memory impairments in 20 children with 22q11.2DS and 32 typically developing (TD) children ages 7 to 16. Children with 22q11.2DS demonstrated poorer working memory, reduced post-stress respiratory sinus arrhythmia recovery, and overall increased levels of cortisol in comparison to TD children. Anxiety, but not physiological stress responsivity, mediated the relationship between 22q11.2DS diagnosis and visuospatial working memory impairment. Findings indicate that anxiety exacerbates impaired working memory in children with 22q11.2DS.

Low Q2 jet production at HERA and virtual photon structure

NASA Astrophysics Data System (ADS)

H1 Collaboration; Adloff, C.; Aid, S.; Anderson, M.; Andreev, V.; Andrieu, B.; Arkadov, V.; Arndt, C.; Ayyaz, I.; Babaev, A.; Bähr, J.; Bán, J.; Baranov, P.; Barrelet, E.; Barschke, R.; Bartel, W.; Bassler, U.; Beck, M.; Behrend, H.-J.; Beier, C.; Belousov, A.; Berger, Ch.; Bernardi, G.; Bertrand-Coremans, G.; Beyer, R.; Biddulph, P.; Bizot, J. C.; Borras, K.; Botterweck, F.; Boudry, V.; Bourov, S.; Braemer, A.; Braunschweig, W.; Brisson, V.; Brown, D. P.; Brückner, W.; Bruel, P.; Bruncko, D.; Brune, C.; Bürger, J.; Büsser, F. W.; Buniatian, A.; Burke, S.; 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.; 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.; de Roeck, A.; de Wolf, E. A.; Delcourt, B.; Dirkmann, M.; Dixon, P.; Dlugosz, W.; Donovan, K. T.; Dowell, J. D.; 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.; Gerhards, R.; Glazov, A.; Goerlich, L.; Gogitidze, N.; Goldberg, M.; 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.; Hengstmann, S.; 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.; Isolarş Sever, Ç.; Itterbeck, H.; 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.; 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.; Laforge, B.; Lahmann, R.; Landon, M. P. J.; Lange, W.; Langenegger, U.; Lebedev, A.; Lehner, F.; Lemaitre, V.; Levonian, S.; Lindstroem, M.; Lipinski, J.; List, B.; Lobo, G.; 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.; 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.; 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.; Rabbertz, K.; 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.; Scheins, J.; Schiek, S.; Schleif, S.; Schleper, P.; von Schlippe, W.; Schmidt, D.; Schmidt, G.; Schoeffel, L.; Schöning, A.; Schröder, V.; Schuhmann, E.; Schultz-Coulon, H.-C.; 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.; Stiewe, J.; Stolze, K.; Straumann, U.; Struczinski, W.; Sutton, J. P.; Swart, M.; Tapprogge, S.; Taševský, M.; Tchernyshov, V.; Tchetchelnitski, S.; Theissen, J.; Thompson, G.; Thompson, P. D.; Tobien, N.; Todenhagen, R.; Truöl, P.; Zálešák, J.; Tsipolitis, G.; Turnau, J.; Tzamariudaki, E.; Uelkes, P.; Usik, A.; Valkár, S.; Valkárová, A.; Vallée, C.; van Esch, P.; van Mechelen, P.; Vandenplas, D.; Vazdik, Y.; Verrecchia, P.; Villet, G.; Wacker, K.; Wagener, A.; Wagener, M.; Wallny, R.; Walter, T.; 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.

1997-12-01

The transition between photoproduction and deep-inelastic scattering is investigated in jet production at the HERA ep collider, using data collected by the H1 experiment. Measurements of the differential inclusive jet cross-sections dσep/dEt* and dσep/dη*, where Et* and η* are the transverse energy and the pseudorapidity of the jets in the virtual photon-proton centre of mass frame, are presented for 0<Q2<49 GeV2 and 0.3Q2. © 1997

Assignment of Alzheimer's presenilin-2 (PS-2) gene to 1q42.1 by fluorescence in situ hybridization.

PubMed

Takano, T; Sahara, N; Yamanouchi, Y; Mori, H

1997-01-17

Presenilin-2 (PS-2) was suggested to be localized on 1q31-42 based on linkage analysis and cDNA cloning. The final identification of PS-2 as the causal gene for early-onset familial Alzheimer's disease in Voga-German pedigrees was concluded based on the point mutation found in the candidate cDNA isolated from this familial AD. We present evidence of its physical genome mapping of PS-2 on chromosome 1q42.1 by fluorescence in situ hybridization method.

Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.

PubMed

Cheung, Evelyn Ning Man; George, Susan R; Costain, Gary A; Andrade, Danielle M; Chow, Eva W C; Silversides, Candice K; Bassett, Anne S

2014-08-01

22q11.2 deletion syndrome (22q11.2DS) is a relatively common yet under-recognized genetic syndrome that may present with endocrine features. We aimed to address the factors that contribute to the high prevalence of hypocalcaemia. We investigated hypocalcaemia in a well-characterized sample of 138 adults with 22q11.2DS (65 m, 73 F; mean age 34.2, SD 11.8, years) using laboratory studies and lifelong medical records. Logistic regression modelling was used to identify features associated with lifetime prevalence of hypocalcaemia. Of the total sample, 111 (80.4%) had a lifetime history of hypocalcaemia. Eleven (84.6%) of 13 subjects with neonatal hypocalcaemia had documented recurrence of hypocalcaemia. Lifetime history of hypocalcaemia was associated with lifetime prevalence of hypoparathyroidism (P < 0.0001) and hypothyroidism (P = 0.04), as statistically independent factors. Hypomagnesaemia was associated with concurrent hypocalcaemic measurements, especially in the presence of concurrent hypoparathyroidism (P = 0.02). The results suggest that, in addition to the major effect of hypoparathyroidism, hypothyroidism may play a role in hypocalcaemia in 22q11.2DS and that there is a high recurrence rate of neonatal hypocalcaemia. Hypomagnesaemia may contribute to hypocalcaemia by further suppressing parathyroid hormone (PTH). Although further studies are needed, the findings support regular lifelong follow-up of calcium, magnesium, PTH and TSH levels in patients with 22q11.2DS. At any age, hypocalcaemia with hypoparathyroidism and/or hypothyroidism may suggest a diagnosis of 22q11.2DS. © 2014 The Authors. Clinical Endocrinology published by John Wiley & Sons Ltd.

Cardiac Defects and Results of Cardiac Surgery in 22q11.2 Deletion Syndrome

ERIC Educational Resources Information Center

Carotti, Adriano; Digilio, Maria Cristina; Piacentini, Gerardo; Saffirio, Claudia; Di Donato, Roberto M.; Marino, Bruno

2008-01-01

Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other genetic syndromes. The conotruncal heart defects occurring in patients with 22q11.2 deletion syndrome include tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic…

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.

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.

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.

Unique double de novo structural rearrangements for chromosome 11 with 46,XX,del(11)(q13q23)/46,XX,inv dup(11)(q13q23) in an infant with minor congenital abnormalities and delayed development

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tharapel, A.T.; Zhao, J.; Smith, M.E.

1994-09-01

Reported here is a patient with two most unusual structural rearrangements, both involving chromosome 11. The first cell line showed an interstitial deletion of a chromosome 11 with a 46,XX,del(11)(q13q23) chromosome complement. In the second cell line, one of the chromosome 11s had a duplication for the exact region, (11)(q13q23), that was deleted in the first cell line. This duplication also appeared to be inverted with karyotype 46,XX,inv dup(11)(q13q23). Interestingly, chromosome analysis did not reveal a normal cell line and the two abnormal cell lines were present in a 1:1 ratio. Parental chromosome analyses showed normal karyotypes. The patient wasmore » referred for genetic evaluation because of developmental delay. Minor congenital anomalies presented on physical examination included: weight and height at or below the 5th percentile, microcephaly, downward slanting palpebral fissures, severe clinodactyly of one toe, bilateral short fifth fingers and a broad based gait. Results of the MRI and urine metabolic screen were normal. Two hypotheses are advanced to explain the origin of the abnormality. It is most likely that the abnormality arose as a postzygotic event at the very early zygotic division. During the first DNA synthesis after fertilization and before the zygotic division, DNA synthesis errors could result in two chromatids, one with a deletion and the other with a duplication. It is also possible that after the DNA synthesis prior to the first cell division, the chromatids of the same chromosome 11 for unknown reasons were involved in uneven double somatic crossing over events resulting in deleted and duplicated chromatids, respectively. The 1:1 cell ratio found in the patient and the apparent non-existence of a normal cell line further suggest that the origin of the abnormality was post-zygotic.« less

High energy Er-doped Q-switched fiber laser with WS2 saturable absorber

NASA Astrophysics Data System (ADS)

Li, Lu; Wang, Yonggang; Wang, Zhen Fu; Wang, Xi; Yang, Guowen

2018-01-01

The report presents a stable Q-switched Er-doped fiber (EDF) laser with WS2-based saturable absorber (SA). The SA is obtained by mixing WS2 dispersion with polyvinyl alcohol (PVA) into polystyrene cells, and then evaporating them to form WS2/PVA film. The modulation depth (MD) of WS2/PVA is 2% and the saturable intensity (Isat) is 27.2 MW/cm2. Employing the WS2/PVA film into EDF laser cavity, stable Q-switched operation is achieved with central wavelength of 1560 nm. The repetition rate can be tuned from 16.15 to 60.88 kHz with increasing pump power from 30 to 320 mW. The single pulse energy increases from 82 to 195 nJ and then decreases down to 156 nJ with increasing pump power from 30 to 320 mW. The pulse width shows the same variation trend. The shortest pulse duration of 2.396 μs and the maximum single pulse energy of 195 nJ are obtained at the pump power of 220 mW. To the best of our knowledge, 195 nJ is the largest single pulse energy at 1.55 μm region with TMDs as Q-switcher. The signal-to-noise ratio (SNR) is measured to be 60 dB at the pump power of 130 mW. The long term stability of working is good too. The experimental results evidently show that the WS2/PVA SA can work as a promising Q-switcher for high power fiber lasers.

Genetic Counseling for the 22q11.2 Deletion

ERIC Educational Resources Information Center

McDonald-McGinn, Donna M.; Zackai, Elaine H.

2008-01-01

Because of advances in palliative medical care, children with the 22q11.2 deletion syndrome are surviving into adulthood. An increase in reproductive fitness will likely follow necessitating enhanced access to genetic counseling for these patients and their families. Primary care physicians/obstetric practitioners are in a unique position to…

Cognitive behavioral therapy in 22q11.2 microdeletion with psychotic symptoms: What do we learn from schizophrenia?

PubMed

Demily, Caroline; Franck, Nicolas

2016-11-01

The 22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, with a widely underestimated prevalence between 1 per 2000 and 1 per 6000. Since childhood, patients with 22q11.2DS are described as having difficulties to initiate and maintain peer relationships. This lack of social skills has been linked to attention deficits/hyperactivity disorder, anxiety and depression. A high incidence of psychosis and positive symptoms is observed in patients with 22q11.2DS and remains correlated with poor social functioning, anxiety and depressive symptoms. Because 22q11.2DS and schizophrenia share several major clinical features, 22q11.2DS is sometimes considered as a genetic model for schizophrenia. Surprisingly, almost no study suggests the use of cognitive and behavioral therapy (CBT) in this indication. We reviewed what should be learned from schizophrenia to develop specific intervention for 22q11.2DS. In our opinion, the first step of CBT approach in 22q11.2DS with psychotic symptoms is to identify precisely which tools can be used among the already available ones. Cognitive behavioral therapy (CBT) targets integrated disorders, i.e. reasoning biases and behavior disorders. In 22q11.2DS, CBT-targeted behavior disorders may take the form of social avoidance and withdrawal or, in the contrary, a more unusual disinhibition and aggressiveness. In our experience, other negative symptoms observed in 22q11.2DS, such as motivation deficit or anhedonia, may also be reduced by CBT. Controlled trials have been studying the benefits of CBT in schizophrenia and several meta-analyses proved its effectiveness. Therefore, it is legitimate to propose this tool in 22q11.2DS, considering symptoms similarities. Overall, CBT is the most effective psychosocial intervention on psychotic symptoms and remains a relevant complement to pharmacological treatments such as antipsychotics. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Neurocognitive Functioning in Patients with 22q11.2 Deletion Syndrome: A Meta-Analytic Review.

PubMed

Moberg, Paul J; Richman, Mara J; Roalf, David R; Morse, Chelsea L; Graefe, Anna C; Brennan, Laura; Vickers, Kayci; Tsering, Wangchen; Kamath, Vidyulata; Turetsky, Bruce I; Gur, Ruben C; Gur, Raquel E

2018-06-19

The 22q11.2 deletion syndrome (22q11.2DS) is a known risk factor for development of schizophrenia and is characterized by a complex neuropsychological profile. To date, a quantitative meta-analysis examining cognitive functioning in 22q11.2DS has not been conducted. A systematic review of cross-sectional studies comparing neuropsychological performance of individuals with 22q11.2DS with age-matched healthy typically developing and sibling comparison subjects was carried out. Potential moderators were analyzed. Analyses included 43 articles (282 effects) that met inclusion criteria. Very large and heterogeneous effects were seen for global cognition (d = - 1.21) and in specific neuropsychological domains (intellectual functioning, achievement, and executive function; d range = - 0.51 to - 2.43). Moderator analysis revealed a significant role for type of healthy comparison group used (typically developing or siblings), demographics (age, sex) and clinical factors (externalizing behavior). Results revealed significant differences between pediatric and adult samples, with isolated analysis within the pediatric sample yielding large effects in several neuropsychological domains (intellectual functioning, achievement, visual memory; d range = - 0.56 to - 2.50). Large cognitive deficits in intellectual functioning and specific neuropsychological variables in individuals with 22q11.2DS represent a robust finding, but these deficits are influenced by several factors, including type of comparison group utilized, age, sex, and clinical status. These findings highlight the clinical relevance of characterizing cognitive functioning in 22q11.2DS and the importance of considering demographic and clinical moderators in future analyses.

W 2 and Q 2 dependence of charged hadron and pion multiplicities in vp andbar vp charged current interactionscharged current interactions

NASA Astrophysics Data System (ADS)

Jones, G. T.; Jones, R. W. L.; Morrison, D. R. O.; Mobayyen, M. M.; Wainstein, S.; Aderholz, M.; Hantke, D.; Hoffmann, E.; Katz, U. F.; Kern, J.; Schmitz, N.; Wittek, W.; Allport, P.; Borner, H. P.; Myatt, G.; Radojicic, D.; Bullock, F. W.; Burke, S.

1990-03-01

Using data on vp andbar vp charged current interactions from a bubble chamber experiment with BEBC at CERN, the average multiplicities of charged hadrons and pions are determined as functions of W 2 and Q 2. The analysis is based on ˜20000 events with incident v and ˜10000 events with incidentbar v. In addition to the known dependence of the average multiplicity on W 2 a weak dependence on Q 2 for fixed intervals of W is observed. For W>2 GeV and Q 2>0.1 GeV2 the average multiplicity of charged hadrons is well described by =a 1+ a 2ln( W 2/GeV2)+ a 3ln( Q 2/GeV2) with a 1=0.465±0.053, a 2=1.211±0.021, a 3=0.103±0.014 for the vp and a 1=-0.372±0.073, a 2=1.245±0.028, a 3=0.093±0.015 for thebar vp reaction.

Education Fever: Korean Parents' Aspirations for Their Children's Schooling and Future Career

ERIC Educational Resources Information Center

Kim, Jin-Sook; Bang, Hyeyoung

2017-01-01

Korean parents set high academic expectations for their children. Utilising Takeuchi's and Clark's theoretical framework and Q methodology, this study explores Korean parents' "education fever" as aspiration for their children's schooling, and how socio-economic status influences this phenomenon. Thirty-six parents in Busan, South Korea,…

Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome

PubMed Central

Cheung, Evelyn Ning Man; George, Susan R.; Andrade, Danielle M.; Chow, Eva W. C.; Silversides, Candice K.; Bassett, Anne S.

2015-01-01

Purpose Hypocalcemia is a common endocrinological condition in 22q11.2 deletion syndrome. Neonatal hypocalcemia may affect neurodevelopment. We hypothesized that neonatal hypocalcemia would be associated with rare, more severe forms of intellectual disability in 22q11.2 deletion syndrome. Methods We used a logistic regression model to investigate potential predictors of intellectual disability severity, including neonatal hypocalcemia, neonatal seizures, and complex congenital heart disease, e.g., interrupted aortic arch, in 149 adults with 22q11.2 deletion syndrome. Ten subjects had moderate-to-severe intellectual disability. Results The model was highly significant (P < 0.0001), showing neonatal seizures (P = 0.0018) and neonatal hypocalcemia (P = 0.047) to be significant predictors of a more severe level of intellectual disability. Neonatal seizures were significantly associated with neonatal hypocalcemia in the entire sample (P < 0.0001), regardless of intellectual level. There was no evidence for the association of moderate- to-severe intellectual disability with other factors such as major structural brain malformations in this sample. Conclusion The results suggest that neonatal seizures may increase the risk for more severe intellectual deficits in 22q11.2 deletion syndrome, likely mediated by neonatal hypocalcemia. Neonatal hypocalcemia often remains unrecognized until the postseizure period, when damage to neurons may already have occurred. These findings support the importance of early recognition and treatment of neonatal hypocalcemia and potentially neonatal screening for 22q11.2 deletions. PMID:23765047

Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice.

PubMed

Huang, Xuan; Zhou, Chengwen; Tian, Mengnan; Kang, Jing-Qiong; Shen, Wangzhen; Verdier, Kelienne; Pimenta, Aurea; MacDonald, Robert L

2017-08-01

The mutant γ-aminobutyric acid type A (GABA A ) receptor γ2(Q390X) subunit (Q351X in the mature peptide) has been associated with the epileptic encephalopathy, Dravet syndrome, and the epilepsy syndrome genetic epilepsy with febrile seizures plus (GEFS+). The mutation generates a premature stop codon that results in translation of a stable truncated and misfolded γ2 subunit that accumulates in neurons, forms intracellular aggregates, disrupts incorporation of γ2 subunits into GABA A receptors, and affects trafficking of partnering α and β subunits. Heterozygous Gabrg2 +/Q390X knock-in (KI) mice had reduced cortical inhibition, spike wave discharges on electroencephalography (EEG), a lower seizure threshold to the convulsant drug pentylenetetrazol (PTZ), and spontaneous generalized tonic-clonic seizures. In this proof-of-principal study, we attempted to rescue these deficits in KI mice using a γ2 subunit gene (GABRG2) replacement therapy. We introduced the GABRG2 allele by crossing Gabrg2 +/Q390X KI mice with bacterial artificial chromosome (BAC) transgenic mice overexpressing HA (hemagglutinin)-tagged human γ2 HA subunits, and compared GABA A receptor subunit expression by Western blot and immunohistochemical staining, seizure threshold by monitoring mouse behavior after PTZ-injection, and thalamocortical inhibition and network oscillation by slice recording. Compared to KI mice, adult mice carrying both mutant allele and transgene had increased wild-type γ2 and partnering α1 and β2/3 subunits, increased miniature inhibitory postsynaptic current (mIPSC) amplitudes recorded from layer VI cortical neurons, reduced thalamocortical network oscillations, and higher PTZ seizure threshold. Based on these results we suggest that seizures in a genetic epilepsy syndrome caused by epilepsy mutant γ2(Q390X) subunits with dominant negative effects could be rescued potentially by overexpression of wild-type γ2 subunits. Wiley Periodicals, Inc. © 2017 International

PB2-Q591K Mutation Determines the Pathogenicity of Avian H9N2 Influenza Viruses for Mammalian Species

PubMed Central

Wang, Congrong; Lee, Horace Hok Yeung; Yang, Zi Feng; Mok, Chris Ka Pun; Zhang, Zhi

2016-01-01

Background Influenza A subtype H9N2 is widespread and prevalent in poultry. It has repeatedly transmitted zoonotically to cause mild influenza-like illness in humans and is regarded as a potential pandemic candidate. In additon, the six internal genes of H7N9 and H10N8 viruses which caused infection in human in China as well as some of the highly pathogenic H5N1 strains are origined from H9N2. Previous studies have shown that the mammalian adaptation PB2-Q591K contributes to the pathogenicity of H5N1 and H7N9 viruses. However, the role of the PB2-Q591K mutation in H9N2 subtype is still not well understood. Methods To define and compare the individual role of PB2-Q591K substitution in the PB2 gene segment of H9N2 in relation to polymerase activity, replication competence and the pathogenicity using in vitro and in vivo models. Results The PB2-Q591K mutation in H9N2 virus enhanced the polymerase activity and virus replication in human NHBE cells when compared to the wild type strain. Mice infected with the PB2 mutant showed significant weight loss, higher virus replication and immune responses in the lungs. Conclusions Our evidences suggest that the PB2-Q591K, in addition to the -E627K mutation in H9N2 enhanced the pathogenicity in mammalian host. PMID:27684944

Neural Substrates of Inhibitory Control Deficits in 22q11.2 Deletion Syndrome†

PubMed Central

Montojo, C.A.; Jalbrzikowski, M.; Congdon, E.; Domicoli, S.; Chow, C.; Dawson, C.; Karlsgodt, K.H.; Bilder, R.M.; Bearden, C.E.

2015-01-01

22q11.2 deletion syndrome (22q11DS) is associated with elevated levels of impulsivity, inattention, and distractibility, which may be related to underlying neurobiological dysfunction due to haploinsufficiency for genes involved in dopaminergic neurotransmission (i.e. catechol-O-methyltransferase). The Stop-signal task has been employed to probe the neural circuitry involved in response inhibition (RI); findings in healthy individuals indicate that a fronto-basal ganglia network underlies successful inhibition of a prepotent motor response. However, little is known about the neurobiological substrates of RI difficulties in 22q11DS. Here, we investigated this using functional magnetic resonance imaging while 45 adult participants (15 22q11DS patients, 30 matched controls) performed the Stop-signal task. Healthy controls showed significantly greater activation than 22q11DS patients within frontal cortical and basal ganglia regions during successful RI, whereas 22q11DS patients did not show increased neural activity relative to controls in any regions. Using the Barratt Impulsivity Scale, we also investigated whether neural dysfunction during RI was associated with cognitive impulsivity in 22q11DS patients. RI-related activity within left middle frontal gyrus and basal ganglia was associated with severity of self-reported cognitive impulsivity. These results suggest reduced engagement of RI-related brain regions in 22q11DS patients, which may be relevant to characteristic behavioral manifestations of the disorder. PMID:24177988

Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome.

PubMed

Weinberger, Ronnie; Yi, James; Calkins, Monica; Guri, Yael; McDonald-McGinn, Donna M; Emanuel, Beverly S; Zackai, Elaine H; Ruparel, Kosha; Carmel, Miri; Michaelovsky, Elena; Weizman, Abraham; Gur, Ruben C; Gur, Raquel E; Gothelf, Doron

2016-10-01

The 22q11.2 deletion syndrome (22q11DS) is associated with increased rates of psychotic disorders and cognitive deficits, but large scale studies are needed to elucidate their interaction. The objective of this two-center study was to identify the neurocognitive phenotype of individuals with 22q11DS and psychotic disorders. We hypothesized that psychotic 22q11DS individuals compared to nonpsychotic deleted individuals would have more severe neurocognitive deficits, especially in executive function and social cognition. These deficits would be present when compared to IQ- matched individuals with Williams Syndrome (WS). Three groups were ascertained from the Tel Aviv and Philadelphia centers: 22q11DS individuals with a psychotic disorder (n=31), nonpsychotic 22q11DS (n=86) and typically-developing controls (TD, n=828). In Tel Aviv a group of individuals with WS (n=18) matched in IQ to the 22q11DS psychotic group was also included. The Penn Computerized Neurocognitive Battery (CNB) was used to assess a wide-range of cognitive functions and all patients underwent structured psychiatric evaluations. 22q11DS individuals performed poorly on all CNB domains compared to TD. Participants with 22q11DS and psychosis, compared to nonpsychotic 22q11DS, had more severe deficits in global neurocognitive performance (GNP), executive function, social cognition and episodic memory domains. The primary deficits were also significant when comparing the Tel Aviv 22q11DS psychotic group to IQ-matched individuals with WS. In conclusion, 22q11DS individuals with a psychotic disorder have specific neurocognitive deficits that are reliably identified cross nationality using the CNB. These cognitive dysfunctions should be further studied as potential endophenotypes of psychosis in 22q11DS and as targets for intervention. Copyright © 2016 Elsevier B.V. and ECNP. All rights reserved.

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

NASA Astrophysics Data System (ADS)

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

2018-04-01

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

Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome

PubMed Central

Cheung, Evelyn Ning Man; George, Susan R; Costain, Gary A; Andrade, Danielle M; Chow, Eva W C; Silversides, Candice K; Bassett, Anne S

2014-01-01

Summary Background 22q11·2 deletion syndrome (22q11·2DS) is a relatively common yet under-recognized genetic syndrome that may present with endocrine features. We aimed to address the factors that contribute to the high prevalence of hypocalcaemia. Methods We investigated hypocalcaemia in a well-characterized sample of 138 adults with 22q11·2DS (65 m, 73 F; mean age 34·2, SD 11·8, years) using laboratory studies and lifelong medical records. Logistic regression modelling was used to identify features associated with lifetime prevalence of hypocalcaemia. Results Of the total sample, 111 (80·4%) had a lifetime history of hypocalcaemia. Eleven (84·6%) of 13 subjects with neonatal hypocalcaemia had documented recurrence of hypocalcaemia. Lifetime history of hypocalcaemia was associated with lifetime prevalence of hypoparathyroidism (P < 0·0001) and hypothyroidism (P = 0·04), as statistically independent factors. Hypomagnesaemia was associated with concurrent hypocalcaemic measurements, especially in the presence of concurrent hypoparathyroidism (P = 0·02). Conclusions The results suggest that, in addition to the major effect of hypoparathyroidism, hypothyroidism may play a role in hypocalcaemia in 22q11·2DS and that there is a high recurrence rate of neonatal hypocalcaemia. Hypomagnesaemia may contribute to hypocalcaemia by further suppressing parathyroid hormone (PTH). Although further studies are needed, the findings support regular lifelong follow-up of calcium, magnesium, PTH and TSH levels in patients with 22q11·2DS. At any age, hypocalcaemia with hypoparathyroidism and/or hypothyroidism may suggest a diagnosis of 22q11·2DS. PMID:24735350

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.

Strep Test: Throat Culture (For Parents)

MedlinePlus

... Fitness Diseases & Conditions Infections Drugs & Alcohol School & Jobs Sports Expert Answers (Q&A) Staying Safe Videos for Educators Search English Español Strep Test: Throat Culture KidsHealth / For Parents / Strep Test: Throat Culture What's ...

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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 iQ j¯q k¯q 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¯q k¯q l, mixed beauty+charm states bc¯q k¯q 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

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 iQ j¯q k¯q 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¯q k¯q l, mixed beauty+charm states bc¯q k¯q 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

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.

Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia.

PubMed

Bassett, J K; Chandler, K E; Douzgou, S

2016-08-01

Chromosome 22q11.2 deletion syndrome is a clinically heterogeneous condition of intellectual disability, parathyroid and thyroid hypoplasia, palatal abnormalities, cardiac malformations and psychiatric symptoms. Hyperphagia and childhood obesity is widely reported in Prader-Willi Syndrome (PWS) but there is only one previous report of this presentation in chromosome 22q11.2 deletion syndrome. We describe two further cases of chromosome 22q11.2 deletion syndrome in which hyperphagia and childhood obesity were the presenting features. This may be a manifestation of obsessive behaviour secondary to some of the psychiatric features commonly seen in chromosome 22q11.2 deletion syndrome. Serious complications may result from hyperphagia and childhood obesity therefore early recognition and intervention is crucial. Due to the similar clinical presentation of these two patients to patients with PWS, it is suggested that the hyperphagia seen here should be managed in a similar way to how it is managed in PWS. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch

PubMed Central

Hoshino, Yoichi; Machida, Moriya; Shimano, Shun-ichi; Taya, Teizo

2017-01-01

Chromosome 22q11.2 deletion syndrome (22q11.2 DS) has a very wide phenotypic spectrum that includes dysmorphic features, cardiac anomalies, and hypocalcemia arising from hypoparathyroidism. We herein describe an adult case of 22q11.2 DS with associated hypoparathyroidism and anomalies of the aortic arch. Because the patient had been diagnosed with primary hypoparathyroidism at another hospital, a diagnosis of 22q11.2 DS had been overlooked. A chest X-ray examination revealed widening of the mediastinum caused by a high-positioned right aortic arch, and we subsequently confirmed a diagnosis of 22q11.2 DS using fluorescence in situ hybridization. Because primary hypoparathyroidism is a rare disorder, physicians should be aware of the variable phenotypic features of 22q11.2 DS. PMID:28381757

Measurements of the nucleon structure function in the range 0.002 < x < 0.17 and 00.2 < Q2 < 8 GeV2 in deuterium, carbon and calcium

NASA Astrophysics Data System (ADS)

European Muon Collaboration; Arneodo, M.; Arvidson, A.; Aubert, J. J.; Badelek, B.; Beaufays, J.; Bee, C. P.; Benchouk, C.; Berghoff, G.; Bird, I. G.; Blum, D.; Böhm, E.; de Bouard, X.; Brasse, F. W.; Braun, H.; Broll, C.; Brown, S. C.; Brück, H.; Calén, H.; Chima, J. S.; Ciborowski, J.; Clifft, R.; Coignet, G.; Combley, F.; Coughlan, J.; d'Agostini, G.; Dahlgren, S.; Derado, I.; Dreyer, T.; Drees, J.; Düren, M.; Eckardt, V.; Edwards, A.; Edwards, M.; Ernst, T.; Eszes, G.; Favier, J.; Ferrero, M. I.; Figiel, J.; Flauger, W.; Foster, J.; Gabathuler, E.; Gajewski, J.; Gamet, R.; Geddes, N.; Grafström, P.; Gustafsson, L.; Haas, J.; Hagberg, E.; Hasert, F. J.; Hayman, P.; Heusse, P.; Jaffre, M.; Jacholkowska, A.; Janata, F.; Jancso, G.; Johnson, A. S.; Kabuss, E. M.; Kellner, G.; Krüger, A.; Krüger, J.; Kullander, S.; Landgraf, U.; Lanske, D.; Loken, J.; Long, K.; Maire, M.; Malecki, P.; Manz, A.; Maselli, S.; Mohr, W.; Montanet, F.; Montgomery, H. E.; Nagy, E.; Nassalski, J.; Norton, P. R.; Oakham, F. G.; Osborne, A. M.; Pascaud, C.; Pawlik, B.; Payre, P.; Peroni, C.; Peschel, H.; Pessard, H.; Pettingale, J.; Pietrzyk, B.; Poensgen, B.; Pötsch, M.; Renton, P.; Ribarics, P.; Rith, K.; Rondio, E.; Sandacz, A.; Scheer, M.; Schlagböhmer, A.; Schiemann, H.; Schmitz, N.; Schneegans, M.; Scholz, M.; Schouten, M.; Schröder, T.; Schultze, K.; Sloan, T.; Stier, H. E.; Studt, M.; Taylor, G. N.; Thenard, J. M.; Thompson, J. C.; de la Torre, A.; Toth, J.; Urban, L.; Urban, L.; Wallucks, W.; Whalley, M.; Wheeler, S.; Williams, W. S. C.; Wimpenny, S. J.; Windmolders, R.; Wolf, G.

1990-03-01

Small angle scattering of 280 GeV positive muons by deuterium, carbon and calcium has been measured at scattering angles down to 2 mrad. The nucleon structure function F2 extracted from deuterium does not show a significant x dependence in the measured range of Q2 and its Q2 dependence is linear in logQ2. For calcium, a depletion of F2 is observed at low x by 30% as compared with the values at x = 0.1 where F2(Ca) and F2 (D) are not significantly different. This depletion is attributed to shadowing. The carbon structure function exhibits a similar, but less pronounced, x dependence. Such behaviour is observed to be independent of Q2. The data are consistent with those obtained from other charged lepton experiments both at similar and higher values of x and Q2 and considerably extend the range of the measurements down to the low values of x to be measured in forthcoming experiments at HERA.

Velopharyngeal Anatomy in 22q11.2 Deletion Syndrome: A Three-Dimensional Cephalometric Analysis

PubMed Central

Ruotolo, Rachel A.; Veitia, Nestor A.; Corbin, Aaron; McDonough, Joseph; Solot, Cynthia B.; McDonald-McGinn, Donna; Zackai, Elaine H.; Emanuel, Beverly S.; Cnaan, Avital; LaRossa, Don; Arens, Raanan; Kirschner, Richard E.

2010-01-01

Objective 22q11.2 deletion syndrome is the most common genetic cause of velopharyngeal dysfunction (VPD). Magnetic resonance imaging (MRI) is a promising method for noninvasive, three-dimensional (3D) assessment of velopharyngeal (VP) anatomy. The purpose of this study was to assess VP structure in patients with 22q11.2 deletion syndrome by using 3D MRI analysis. Design This was a retrospective analysis of magnetic resonance images obtained in patients with VPD associated with a 22q11.2 deletion compared with a normal control group. Setting This study was conducted at The Children’s Hospital of Philadelphia, a pediatric tertiary care center. Patients, Participants The study group consisted of 5 children between the ages of 2.9 and 7.9 years, with 22q11.2 deletion syndrome confirmed by fluorescence in situ hybridization analysis. All had VPD confirmed by nasendoscopy or videofluoroscopy. The control population consisted of 123 unaffected patients who underwent MRI for reasons other than VP assessment. Interventions Axial and sagittal T1- and T2-weighted magnetic resonance images with 3-mm slice thickness were obtained from the orbit to the larynx in all patients by using a 1.5T Siemens Visions system. Outcome Measures Linear, angular, and volumetric measurements of VP structures were obtained from the magnetic resonance images with VIDA image- processing software. Results The study group demonstrated greater anterior and posterior cranial base and atlanto-dental angles. They also demonstrated greater pharyngeal cavity volume and width and lesser tonsillar and adenoid volumes. Conclusion Patients with a 22q11.2 deletion demonstrate significant alterations in VP anatomy that may contribute to VPD. PMID:16854203

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.

Parenting in 2 Worlds: Effects of a Culturally Adapted Intervention for Urban American Indians on Parenting Skills and Family Functioning.

PubMed

Kulis, Stephen S; Ayers, Stephanie L; Harthun, Mary L; Jager, Justin

2016-08-01

Parenting in 2 Worlds (P2W) is a culturally grounded parenting intervention that addresses the distinctive social and cultural worlds of urban American Indian (AI) families. P2W was culturally adapted through community-based participatory research in three urban AI communities with diverse tribal backgrounds. This paper reports the immediate outcomes of P2W in a randomized controlled trial, utilizing data from 575 parents of AI children (ages 10-17). Parents were assigned to P2W or to the comparison group, an informational family health curriculum, Healthy Families in 2 Worlds (HF2W). Both the P2W and HF2W curricula consisted of 10 workshops delivered weekly by AI community facilitators. Pretests were administered at the first workshop and a post-test at the last workshop. Tests of the efficacy of P2W versus HF2W on parenting skills and family functioning were analyzed with pairwise t tests, within intervention type, and by baseline adjusted path models using FIML estimation in Mplus. Intervention effect sizes were estimated with Cohen's d. Participants in P2W reported significant improvements in parental agency, parenting practices, supervision and family cohesion, and decreases in discipline problems and parent-child conflict. Compared to HF2W, P2W participants reported significantly larger increases in parental self-agency and positive parenting practices, and fewer child discipline problems. Most of these desired program effects for P2W approached medium size. Culturally adapted parenting interventions like P2W can effectively strengthen parenting practices and family functioning among urban AI families and help address their widespread need for targeted, culturally grounded programs.

Parenting in 2 Worlds: Effects of a Culturally Adapted Intervention for Urban American Indians on Parenting Skills and Family Functioning

PubMed Central

Kulis, Stephen S.; Ayers, Stephanie L.; Harthun, Mary L.; Jager, Justin

2016-01-01

Parenting in 2 Worlds (P2W) is a culturally grounded parenting intervention that addresses the distinctive social and cultural worlds of urban American Indian (AI) families. P2W was culturally adapted through community-based participatory research in three urban AI communities with diverse tribal backgrounds. This paper reports the immediate outcomes of P2W in a randomized controlled trial, utilizing data from 575 parents of AI children (ages 10–17). Parents were assigned to P2W or to the comparison group, an informational family health curriculum, Healthy Families in 2 Worlds (HF2W). Both the P2W and HF2W curricula consisted of 10 workshops delivered weekly by AI community facilitators. Pretests were administered at the first workshop and a post-test at the last workshop. Tests of the efficacy of P2W versus HF2W on parenting skills and family functioning were analyzed with pairwise t-tests, within intervention type, and by baseline adjusted path models using FIML estimation in Mplus. Intervention effect sizes were estimated with Cohen’s d. Participants in P2W reported significant improvements in parental agency, parenting practices, supervision and family cohesion, and decreases in discipline problems and parent-child conflict. Compared to HF2W, P2W participants reported significantly larger increases in parental self-agency and positive parenting practices, and fewer child discipline problems. Most of these desired program effects for P2W approached medium size. Culturally adapted parenting interventions like P2W can effectively strengthen parenting practices and family functioning among urban AI families and help address their widespread need for targeted, culturally grounded programs. PMID:27129476

Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).

PubMed

Granot-Hershkovitz, Einat; Raas-Rothschild, Annick; Frumkin, Ayala; Granot, David; Silverstein, Shira; Abeliovich, Dvorah

2011-08-01

Cytogenetic analysis of DNA from a girl with severe psychomotor retardation revealed a de novo pericentric inversion of chromosome 2: 46,XX,inv(2)(p15q24.2). In order to elucidate the possible role of the inversion in the girl's abnormal phenotype, we analyzed the inversion breakpoints. FISH analysis revealed BAC clones spanning the breakpoints at 2p and 2q of the inversion. Southern blot hybridization with DNA probes from the BAC regions was used to refine the localization of the breakpoints, followed by inverse-PCR which enabled us to sequence the inversion breakpoints. We found a complex chromosomal rearrangement, including five breakpoints, four at 2q and one at 2p joined with minor insertions/deletions of a few bases. The breakpoint at 2p was within the NRXN1 gene that has previously been associated with autism, intellectual disabilities, and psychiatric disorders. In 2q, the breakpoints disrupted two genes, TANC1 and RBMS1; the phenotypic effect of these genes is not currently known. Copyright © 2011 Wiley-Liss, Inc.

Enhancing Parent Involvement in NC-CCSS for K-2 Mathematics

NASA Astrophysics Data System (ADS)

Johnson, D.

2014-12-01

Key Terms:Parent Involvement, Common Core State Standards, Homework, K - 2 Mathematics In this study, the 2014 REU math team developed and provided a workshop that assisted parents in understanding the North Carolina Common Core State Standards for K-2 Mathematics to assist with student homework assignments. Parent involvement is defined as parent participating in the educational processes and experiences of their children. A chi-square analysis was used to analyze data collected from the pre survey and the post survey administered to participants in the workshop. The study revealed all of the individual components of parent involvement were positively and significantly related to educational goals. The study identified various aspects of parent involvement that yielded statistically significant results in affirming that parent involvement attributed to urban student achievement. These findings were particularly helpful for indicating which kinds of parent involvement influenced academic success. Most notably, parent expectations and styles demonstrated a strong relationship with scholastic outcomes. Parent expectations and styles created an educationally oriented ambience that established an understanding of the certain level of support the child needed to succeed academically. The REU mathematics team focused on three essential questions in this study: (1) What practices will increase parent awareness of K-2 NC-CCSS for mathematics at P. W. Moore Elementary School? (2) What methods can be used to strengthen parent skills in assisting with mathematics homework assignments at P. W. Moore Elementary School? (3) What actions can be taken to motivate parent involvement in the school improvement process focusing on mathematics at P. W. Moore Elementary School?

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.

22q11.2 Deletion Syndrome Is Associated With Impaired Auditory Steady-State Gamma Response

PubMed Central

Pellegrino, Giovanni; Birknow, Michelle Rosgaard; Kjær, Trine Nørgaard; Baaré, William Frans Christiaan; Didriksen, Michael; Olsen, Line; Werge, Thomas; Mørup, Morten; Siebner, Hartwig Roman

2018-01-01

Abstract Background The 22q11.2 deletion syndrome confers a markedly increased risk for schizophrenia. 22q11.2 deletion carriers without manifest psychotic disorder offer the possibility to identify functional abnormalities that precede clinical onset. Since schizophrenia is associated with a reduced cortical gamma response to auditory stimulation at 40 Hz, we hypothesized that the 40 Hz auditory steady-state response (ASSR) may be attenuated in nonpsychotic individuals with a 22q11.2 deletion. Methods Eighteen young nonpsychotic 22q11.2 deletion carriers and a control group of 27 noncarriers with comparable age range (12–25 years) and sex ratio underwent 128-channel EEG. We recorded the cortical ASSR to a 40 Hz train of clicks, given either at a regular inter-stimulus interval of 25 ms or at irregular intervals jittered between 11 and 37 ms. Results Healthy noncarriers expressed a stable ASSR to regular but not in the irregular 40 Hz click stimulation. Both gamma power and inter-trial phase coherence of the ASSR were markedly reduced in the 22q11.2 deletion group. The ability to phase lock cortical gamma activity to regular auditory 40 Hz stimulation correlated with the individual expression of negative symptoms in deletion carriers (ρ = −0.487, P = .041). Conclusions Nonpsychotic 22q11.2 deletion carriers lack efficient phase locking of evoked gamma activity to regular 40 Hz auditory stimulation. This abnormality indicates a dysfunction of fast intracortical oscillatory processing in the gamma-band. Since ASSR was attenuated in nonpsychotic deletion carriers, ASSR deficiency may constitute a premorbid risk marker of schizophrenia. PMID:28521049

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

Neural substrates of inhibitory control deficits in 22q11.2 deletion syndrome.

PubMed

Montojo, C A; Jalbrzikowski, M; Congdon, E; Domicoli, S; Chow, C; Dawson, C; Karlsgodt, K H; Bilder, R M; Bearden, C E