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Sample records for partial 4q trisomy

  1. Two cases of partial trisomy 4p and partial trisomy 14q.

    Science.gov (United States)

    Kim, Yeo-Hyang; Kim, Heung-Sik; Ryoo, Nam-Hee; Ha, Jung-Sook

    2013-01-01

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

  2. PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW.

    Science.gov (United States)

    Puvabanditsin, S; Herrera-Garcia, G; Gengel, N; Hussein, K; February, M; Mayne, J; Mehta, R

    2016-01-01

    We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcephaly, colpocephaly, absent corpus callosum, bulbous tip of the nose, large and low set ears, macroglossia, thin upper lip, double outlet right ventricle, atria/ventricular septal defect, cleft mitral valve, pulmonary stenosis, single umbilical artery, multicystic dysplastic left kidney, sacral dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism. This is the first report of a patient with partial trisomy 4p and partial monosomy 13q.

  3. Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1)

    DEFF Research Database (Denmark)

    Tos, T; Alp, M Y; Eker, H K

    2014-01-01

    Partial trisomy 9q34-qter and partial monosomy 8q24.3-qter are very rare chromosomal abnormalities. Characteristic features of partial trisomy 9q34-qter are hypotonia, developmental delay, mild intellectual disability, dolichocephaly, distinct facial phenotype, long and thin fingers, and cardiac...

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

    Indian Academy of Sciences (India)

    Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3 ... This is the first report of molecular cytogenetic characterization of a partial trisomy 2q31.2–37.3 with monosomy 9p24.3. ... Manuscript received: 10 November 2016; Manuscript revised: 13 March 2017; Accepted: 21 March 2017 ...

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

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    Menasse-Palmer, L; Leo, J.; Cannizaro, L. [Albert Einstein College of Medicine, Bronx, NY (United States)] [and others

    1994-09-01

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

  6. Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.

    Science.gov (United States)

    Wu, Dong; Zhang, Hui; Hou, Qiaofang; Wang, Hongdan; Wang, Tao; Liao, Shixiu

    2017-11-01

    Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15.2;q13.1). The array‑based comparative genomic hybridization (aCGH) analysis identified partial trisomy of the short arm of chromosome 4 and partial monosomy of distal 20q in the proband due to maternal balanced reciprocal translocation 4;20. The analysis of genotype/phenotype correlation demonstrated that fibroblast growth factor receptor 3 and msh homeobox 1 may be the important genes for 4p duplication, and that potassium voltage‑gated channel subfamily Q member 2, myelin transcription factor 1 and cholinergic receptor nicotinic α4 subunit may be the important genes for 20q deletion. To the best of our knowledge, the present study was the first to report an unbalanced translocation involving chromosomes 4p and 20q. The present study additionally demonstrated that aCGH analysis is able to reliably detect unbalanced submicroscopic chromosomal aberrations.

  7. Partial trisomy 5q resulting from chromosome 7 insertion: An expansion of the phenotype

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    Fries, M.H.; Reilly, P.A.; Williams, T.C. [Keesler Medical Center, MS (United States)] [and others

    1994-09-01

    Partial trisomy 5q has been categorized into three separate phenotypes; however, a distinctive phenotype has not been described for duplications spanning 5q23-q35. We report a case of partial trisomy 5q for this region as a result of a ins(7,5)(q31.3;q23.2q35.1)mat. The liveborn male infant was delivered by emergency cesarean section at 37 weeks after a pregnancy notable for oligohydramnios, with birth weight 1792 g (<3%). Postnatal course was marked by psychomotor delay, failure to thrive, and biopsy demonstrated neonatal giant cell hepatitis with a paucity of intrahepatic bile ducts. His appearance was remarkable for lack of subcutaneous fat, midline displaced hair whorl, bitemporal narrowing with frontal bossing, wide anterior fontanel, widow`s peak, protuberant eyes with periorbital and lid edema, short flat nasal bridge with broad flattened nasal tip, long smooth philtrum, wide mouth with thin lips, wide gingival ridges, micrognathia, posteriorly rotated low-set ears, hepatomegaly, flexion contractions of elbows, and generalized hypertonicity. Urine organic acids, oligosaccharide/mucopolysaccharide screen, and plasma amino acids were negative. GTG-banding on prometaphase chromosomes showed an unbalanced translocation involving chr. 7. This was identified as an insertion of chr. 5 (q23.2q35.1) into distal 7q after FISH using chr. 5 and chr. 7 painting probes. The infant`s mother carries the balanced insertional rearrangement: 46,XX,dir ins(7,5)(q31.3;q23.2q35.1). This phenotype overlaps that of previously described duplications with the addition of giant cell hepatitis, coarsened facial features, gingival thickening, and flexion contractures, suggestive of a yet undiagnosed storage disorder.

  8. [Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy].

    Science.gov (United States)

    Xiao, Wenjun; Gao, Zhenkui; Meng, Qian; Zhang, Man

    2014-12-01

    To diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype. The patient was diagnosed with conventional cytogenetics and real-time fluorescence quantitative PCR (QF-PCR). The phenotype was then correlated with the genotype through a review of literature. The neonate was diagnosed with a partial 13q trisomy (q12 → qter) and partial 5p monosomy (p15 →pter). A rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.

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

    Science.gov (United States)

    Glass, I A; Stormer, P; Oei, P T; Hacking, E; Cotter, P D

    1998-01-01

    In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy. Images PMID:9598728

  10. Trisomy 1q42-qter associated with monosomy 6q27-qter: a case report.

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    Tartaglia, Edoardo; Mastrantonio, Pasquale; Costa, Davide; Giugliano, Brunella; Porcellini, Antonio; Costagliola, Ciro

    2011-01-01

    Partial trisomy 1q42-qter is a rare chromosomal aberration. Most cases arise from de novo unbalanced translocations or from unbalanced inheritance of parental balanced rearrangements. Descriptive case report. A 4-year-old boy had shown an increased neck translucency at the fetal ultrasound examination performed at the 11th week of gestation. Amniocentesis, performed at the 18th week of gestation, did not demonstrate any genetic abnormality. A second fetal ultrasound examination, carried out at the 35th week of gestation, showed congenital clubfeet and hydrocephalus. At birth, clinical examination revealed congenital bilateral ventriculomegaly, bilateral congenital equinovarus clubfeet, low-set ears, plagiocephaly, micrognathia, hypertelorism, prominent forehead, broad nasal bridge, hypertonic syndrome, and inguinal hernia. Ophthalmologic consultation showed the presence of optic pit in his left eye. Genetic counseling was performed. Chromosome analysis demonstrated a partial trisomy 1q42.2-qter associated with a partial monosomy 6q27-qter. Moreover, deletions of the distal region on the long arm of chromosome 6 are frequently associated with both ocular abnormalities and several solid tumor types. Moderate mental and psychomotor retardation has occurred. This case emphasizes the importance of scheduling a screening test for eye diseases and tumor in these patients.

  11. Clinical delineation of a patient with trisomy 12q23q24

    NARCIS (Netherlands)

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

    2013-01-01

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

  12. Investigation of a Patient With a Partial Trisomy 16q Including the Fat Mass and Obesity Associated Gene (FTO): Fine Mapping and FTO Gene Expression Study

    NARCIS (Netherlands)

    van den Berg, L.; Delemarre-van d Waal, H.A.; Han, J.C.; Ylstra, B.; Eijk, P.; Nesterova, M.; Heutink, P.; Stratakis, C.A.

    2010-01-01

    A female patient with a partial trisomy 16q was described previously. Her clinical characteristics included obesity, severe anisomastia, moderate to severe mental retardation, attention deficit hyperactivity disorder, dysmorphic facies, and contractions of the small joints. In this article, we

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

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

    2009-04-01

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

  14. Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

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    Karmous-Benailly, Houda; Tabet, Anne-Claude; Thaly, Adeline; Dupuy, Olivier; Huten, Yolène; Luton, Dominique; Baumann, Clarisse; Delezoide, Anne-Lise

    2005-03-01

    Trisomy of the short arm of chromosome 4 is a well-known syndrome, and several observations have been made in the last 30 years. Herein, we report a new observation of trisomy 4p in a fetus with a semi-lobar holoprosencephaly (HPE), dysmorphic features and multiple malformations. The diagnosis of HPE was made, at 33 weeks' gestation, on the fetus of a healthy G1P0 woman. Amniocentesis was performed for chromosome analysis and additional material was found on a chromosome 22. The couple elected to terminate the pregnancy and fetal examination was realized. Conventional and molecular cytogenetic studies were performed on the fetus and the parents, which showed that the additional material found on one chromosome 22 corresponded to the short arm of chromosome 4 and therefore led us to establish a diagnosis of trisomy 4p inherited from the malsegregation of a paternal translocation t(4;22)(q12;q11.1). The etiology of HPE is very heterogeneous; it includes non-genetic factors such as maternal diabetes and genetic causes. HPE cases have been described in association with many chromosomal anomalies, trisomy 13 being the most frequent. However, to our knowledge, HPE has never been previously reported in association with a trisomy involving solely the short arm of chromosome 4. Copyright 2005 John Wiley & Sons, Ltd.

  15. Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features

    Science.gov (United States)

    Al-Sarraj, Yasser; Al-Khair, Hakam Abu; Taha, Rowaida Ziad; Khattab, Namat; El Sayed, Zakaria H; Elhusein, Bushra; El-Shanti, Hatem

    2014-01-01

    Key Clinical Message We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy. PMID:25614812

  16. A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review.

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    Garcia-Heras, Jaime; Martin, Judith

    2002-05-01

    A rec(4) dup 4p inherited from a maternal inv(4)(p15q35) was detected in a four-year-old girl with malformations, developmental delay, and behavioral problems that resemble those for trisomy 4p. A review of eight other liveborns with rec(4) dup 4p shows that about 40% of them also have manifestations in common with trisomy 4p, but the rest have a variable spectrum of malformations. Overall, the rec(4) dup 4p phenotype is not specific, and a diagnosis would not have been feasible without cytogenetic studies. This lack of a clinically recognizable phenotype could reflect the effects of the variable sizes of deletions of 4q, molecular differences in the break points, or the known variable expression of trisomy 4p. The fact that 79% of the recombinants in the offspring of inv(4)(p13-p15q35) carriers are rec(4) dup 4p suggests that meiotic recombination favors its generation or that rec(4) dup 4q are more lethal in utero. Copyright 2002 Wiley-Liss, Inc.

  17. Trisomy 2p: Analysis of unusual phenotypic findings

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    Lurie, I.W.; Ilyina, H.G.; Gurevich, D.B. [Belorussian Research Institute of Hereditary Disease, Minsk (Russian Federation)] [and others

    1995-01-16

    We present three probands with partial trisomies 2p21-23 due to ins(4;2)(q21;p21p23) pat, 2p23-pter due to t(2;4)(p23;q35)mat, and 2p21-pter due to t(2;11)(p21;q23.3)mat. More than 50 cases of partial trisomy 2p have been reviewed and some abnormalities, unusual for most other types of structural autosomal imbalance, have been found in patients with inherited forms of 2p trisomy and in their non-karyotyped sibs. Neural tube defects (anencephaly, occipital encephalocele, and spina bifida) were found in five probands and 4/6 affected non-karyotyped sibs. The only triplicated segment common to all was 2p24. Different forms of {open_quotes}broncho-pulmonary a/hypoplasia{close_quotes} (including two cases of lung agenesis) were described in four patients (overlapping triplicated segment was 2p21-p25). Three patients (with overlapping triplicated segment 2p23-p25) had diaphragmatic hernia. Abnormal rotation of the heart or L-transposition of large vessels (with or without visceral heterotaxia) was found in two infants (overlapping triplicated segment 2p23-p24). In two patients with common triplicated segment 2p22.3-p25, neuroblastoma has been described. The occurrence of all these defects may be explained either by the action of the same gene(s) mapped to 2p24 or by action of some independent factors located in different segments of the short arm. Although the latter hypothesis is much less probable, it can not be rejected at the present time. We propose the existence of a genetic system controlling surveillance of an abnormal embryo to explain the phenotypic differences between patients with the same imbalance within a family. In some {open_quotes}restrictive{close_quotes} combinations the abnormal embryos will die, although in {open_quotes}permissive{close_quotes} combinations they can survive. 47 refs., 2 figs., 3 tabs.

  18. 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

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    Chih-Ping Chen

    2010-12-01

    Conclusion: 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.

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

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

    2008-01-01

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

  20. Trisomy 10p and translocation of 10q to 4p associated with selective dysgenesis of IgA-producing cells in lymphoid tissue.

    Science.gov (United States)

    Saiga, Tatsuyoshi; Hashimoto, Kazuhiro; Kimura, Nobusuke; Ono, Hisako; Hiai, Hiroshi

    2007-01-01

    A combined chromosomal abberation trisomy of the short arm of chromosome 10 associated with translocation of 10q to chromosome 4p was found in a 14-month-old boy, who died after repeated bouts of pneumonia. The translocation involved the target region 4p16.3 of Wolf-Hirschhorn syndrome and/or Pitt-Rogers-Danks syndrome. The karyotype was 46,XY,der(4)t(4;10)(p16;q11.2),i(10)(p10),ish der(4)t(4;10)(p16.3;q11.2) (D4S96+,D4Z1+),i(10) (pter ++). In addition to growth retardation and external as well as internal dysmorphism, the patient had abnormalities of the immune system, such as thymic involution, generalized lymph node enlargement, unusual distribution of T cells in lymphoid follicles, and selective IgA deficiency. The IgA-producing cells were rarely found in lymph nodes but normally in intestinal mucosa. In contrast, in the lymph nodes, the paracortical T-lymphocytes were hyperplastic, but they rarely entered the primary follicles. It is assumed that the chromosomal abnormality may lead to the dysfunction of T lymphocytes and, further, to the dysgenesis of IgA-producing cells in lymph nodes but not in intestinal mucosa. This suggests that the thymus may differentially control the subsets of IgA-producing cells in lymph nodes and intestinal mucosa.

  1. Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13(q26.2;p11.2: Further Delineation of 3q Duplication Syndrome

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    M. Abreu-González

    2013-01-01

    Full Text Available Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%–75% of cases are derived from a balanced translocation. We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13(q26.2;p11.2. As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome. There are 4 affected individuals and several carriers among three generations. The report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to define the phenotype associated with the syndrome. Furthermore, we confirmed that the survival until adulthood is possible. This report also identified the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype.

  2. Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.

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    Battaglia, A; Brothman, A R; Carey, J C

    2002-09-15

    An informative patient with a MCA/MR syndrome consisting of developmental delay, prenatal onset growth delay, microcephaly, distinctive face, iris coloboma, and a congenital heart defect was found, on chromosome analysis, to have the following complement: 46,XY,rec(4) dup(4p) inv(4)(p14q35.1) mat. He has a partial 4p trisomy/distal 4q deletion due to an unbalanced pericentric inversion inherited from his mother. Dup (4p) trisomy was originally described by Wilson et al. [1970: Am J Hum Genet 22:679-690] in a similar case with the same chromosome 4 inversion. To date, at least 85 cases of dup (4p) syndrome have been published, mostly due to unbalanced translocations. Recent articles suggest that the phenotype is hard to recognize clinically due to the lack of specificity of findings. In contrast, 4p trisomy due to an unbalanced pericentric inversion of chromosome 4(p14q35), i.e., the recombinant 4 syndrome observed in our patient, appears to be a discrete entity with relatively consistent features. In total there are four other kindreds described in the literature with this inversion, and the phenotype seems recognizable. Thus, we suggest that recombinant 4 syndrome is a discrete entity among 4p trisomy patients. Copyright 2002 Wiley-Liss, Inc.

  3. Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation.

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    Takeno, S S; Corbani, M; Andrade, J A D; Smith, M de A C; Brunoni, D; Melaragno, M I

    2004-08-30

    We present clinical and cytogenetic data on a family with a t(4;13)(p16;q11) translocation present in four generations. The balanced translocation resulted in one individual with monosomy 4p and one individual with trisomy 4p, due to 3:1 segregation. The male patient with trisomy 4p was fertile and transmitted the extra chromosome to his daughter. Copyright 2004 Wiley-Liss, Inc.

  4. Partial trisomy 9p derivatived from a maternal reciprocal translocation 9;15. Case reports.

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    Elodia Torres

    2015-12-01

    Full Text Available Objectives: to highlight the importance of performing karyotype in children with congenital malformations in order to have a confirmatory diagnosis, in parents to exclude the possibility of being carriers of chromosomal abnormalities and perform the genetic counseling. Clinical cases description: Female patient with 3 years and 2 months old to whom karyotype was performed by global neurodevelopmental delay and microcephaly, and her mother with 34 years old without any clinical manifestations, to both patients, lymphocyte culture and chromosomal analysis with a High Resolution Banding techniques GTG and C were performed. The mother’s karyotype was 46,XX,t(9;15(q10;q10(p10;p10,add14p. The father’s karyotype was normal, 46,XY, and the girl’s karyotype resulted in a pure Trisomy 9p:  47,XX,+del(9(q11. Discussion: This chromosomal rearrangement in mother included a nonhomologous reciprocal translocation between the long arms of pair chromosomes 9 and 15 and between the short arms of the same chromosomes, additional to it, an unknown origin material was also observed in short arm from one chromosome of the 14 pair. In meiosis of this type of rearrangement, the father’s normal homologous chromosomes are paired with the mother’s translocated chromosomes and as a result of 3:1 segregation a gamete with one chromosome else was originated that after fertilization resulted in an unbalanced translocation confirming the pure trisomy in the patient.

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

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    Véronique Brault

    2015-03-01

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

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

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

    2015-03-01

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

  7. MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13

    OpenAIRE

    Sankaran, Vijay G.; Menne, Tobias F.; Šćepanović, Danilo; Vergilio, Jo-Anne; Ji, Peng; Kim, Jinkuk; Thiru, Prathapan; Orkin, Stuart H.; Lander, Eric S.; Lodish, Harvey F.

    2011-01-01

    Many human aneuploidy syndromes have unique phenotypic consequences, but in most instances it is unclear whether these phenotypes are attributable to alterations in the dosage of specific genes. In human trisomy 13, there is delayed switching and persistence of fetal hemoglobin (HbF) and elevation of embryonic hemoglobin in newborns. Using partial trisomy cases, we mapped this trait to chromosomal band 13q14; by examining the genes in this region, two microRNAs, miR-15a and -16-1, appear as t...

  8. Oral health needs in individuals with trisomy 18 and trisomy 13: Implications for dental professionals.

    Science.gov (United States)

    Bruns, Deborah; Martinez, Alyssa; Campbell, Emily All

    2016-01-01

    The purpose of this study was to examine oral health needs and dental care in individuals with trisomy 18 and trisomy 13 (full, mosaic, partial and other, mixed types). Primary feeding method was also examined. Data was collected from a parent-completed, mixed method survey (TRIS Survey). Mean age in months was 120.2 (range 38 to 394 months) and 133 (range 36 to 405 months), respectively, for trisomy 18 and trisomy 13 individuals. Results indicated the majority of individuals received routine dental care from their family dentist. Approximately 80% in both groups needed some form of specialized dental care. Close to 25% and 30% of trisomy 18 and trisomy 13 individuals, respectively, required hospital admission for specialized dental care. Responses indicated the presence of excessive plaque and tooth decay across the groups with a higher incidence for individuals with trisomy 13. Although not the primary form of intake, over half of the individuals received oral feedings. Implications for dental care and management are provided along with the need for additional research to confirm or disconfirm this study's findings. © 2015 Special Care Dentistry Association and Wiley Periodicals, Inc.

  9. Placental Abnormalities and Preeclampsia in Trisomy 13 Pregnancies

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2009-03-01

    Full Text Available Women who are carrying a trisomy 13 fetus are prone to have an abnormal placenta as well as to develop preeclampsia in the second and third trimesters. This article provides a comprehensive review of placental abnormalities, such as small placental volume, reduced placental vascularization, a partial molar appearance of the placenta and placental mesenchymal dysplasia, and preeclampsia associated with trisomy 13 pregnancies. The candidate preeclampsia-causing genes on chromosome 13, such as sFlt1, COL4A2 and periostin, are discussed.

  10. Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.

    Science.gov (United States)

    Villa, Olaya; Del Campo, Miguel; Salido, Marta; Gener, Blanca; Astier, Laura; Del Valle, Jesús; Gallastegui, Fátima; Pérez-Jurado, Luis A; Solé, Francesc

    2007-05-15

    We report on a child with a small supernumerary marker chromosome (sSMC) causing partial trisomy 6p. The child showed a phenotype consisting of neonatal craniosynostosis, microcephaly, and borderline developmental delay. By molecular techniques the sSMC has been shown to contain approximately 16 Mb of genomic DNA from 6p21.1 to 6cen, being de novo and of maternal origin.

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

    Science.gov (United States)

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

    2008-01-01

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

  12. Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10

    NARCIS (Netherlands)

    Arts, W F M; Hofstee, Y; Drejer, G F; Beverstock, G C; Oosterwijk, J C

    A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and

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

    Science.gov (United States)

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

    2015-06-01

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

  14. Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes.

    Science.gov (United States)

    Begovic, D; Hitrec, V; Lasan, R; Letica, L; Baric, I; Sarnavka, V; Galic, S

    1998-06-01

    We report on a month-old infant with dysmorphic face and several anomalies known to be associated with trisomy 13. Fluorescence in situ hybridization (FISH) studies performed on metaphase cells allowed us to identify an extra material on the short arm of the chromosome 13 as a duplication of 13q22-qter.

  15. Trisomy/tetrasomy 13 in seven cases of acute leukemia.

    Science.gov (United States)

    Sreekantaiah, C; Baer, M R; Morgan, S; Isaacs, J D; Miller, K B; Sandberg, A A

    1990-11-01

    We report the clinical presentation and the morphologic, histochemical, and immunophenotypic characteristics of seven patients with acute leukemia who had trisomy/tetrasomy 13 as the sole cytogenetic abnormality in their leukemia. Five patients had trisomy 13 at diagnosis of acute leukemia. All five of these patients had undifferentiated leukemias. The sixth patient, who had French-American-British (FAB) type M2 acute nonlymphocytic leukemia (ANLL), and the seventh patient with biphenotypic acute leukemia developed the trisomic clone as a new abnormality late in the course of their disease. A review of the literature revealed 28 previously reported hematologic malignancies with trisomy 13 or tetrasomy 13q as a solitary cytogenetic abnormality. Trisomy 13 appears to represent another rare but nonrandom cytogenetic abnormality in acute leukemia. In our series trisomy 13 is largely associated with acute leukemia with little myeloid or lymphoid differentiation.

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

    Directory of Open Access Journals (Sweden)

    Lall Meena

    2011-09-01

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

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

    Science.gov (United States)

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

    2004-03-01

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

  18. Trisomy 4 in a case of acute undifferentiated myeloblastic leukemia with hand-mirror cells.

    Science.gov (United States)

    Kao, Y S; McCormick, C; Vial, R

    1990-04-01

    A case of acute undifferentiated myelocytic leukemic with trisomy 4 is described. The patient is a 61-year-old woman who developed leukemia 4 1/2 years after receiving radiation therapy for uterine carcinoma. Many leukemic cells exhibited hand-mirror configuration after the bone marrow aspirate was left at room temperature overnight. The relationship between trisomy 4 and hand-mirror cells in acute myelocytic leukemia is unknown.

  19. Partial trisomy 16p in an adolescent with autistic disorder and Tourette`s syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hebebrand, J.; Martin, M.; Remschmidt, H. [Philipps-Univ., Marburg (Germany)] [and others

    1994-09-15

    A partial trisomy 16p was identified in a 14-year-old male adolescent with autistic disorder. He additionally showed complex motor and vocal phenomena, including some simple tics which had first appeared in childhood. Whereas these simple tics were of subclinical significance, an additional diagnosis of Tourette`s syndrome (TS) appears justified. The case report illustrates the diagnostic difficulties in assessing psychiatric symptomatology associated with both disorders, especially complex motor and vocal phenomena. The cytogenetic finding is discussed critically in the light of other chromosome abnormalities reported in both TS and autistic disorder. Chromosome 16p should be considered as a candidate region especially for autistic disorder. 21 refs.

  20. Communication ability in persons with trisomy 18 and trisomy 13.

    Science.gov (United States)

    Braddock, Barbara; McDaniel, Jena; Spragge, Sara; Loncke, Filip; Braddock, Stephen R; Carey, John C

    2012-12-01

    The purpose of this study was to assess communication abilities among a sample of 10 individuals with Trisomy 18 and Trisomy 13. These 10 individuals were diagnosed with Trisomy 18 (n = 8) or Trisomy 13 (n = 2) and had a mean age of 15.96 years. The sample consisted of one male and nine females. Caregivers completed a case history and reported on words and gestures understood and/or produced. Participants were also videotaped during communication temptation tasks. Auditory comprehension was reported to be higher than expressive language. No participant produced intelligible words or word approximations, yet most produced hand gestures. The process and results of these 10 cases point to a potentially promising approach for assessing communication abilities in individuals with Trisomy 18 and Trisomy 13.

  1. Co-existence of t(6;13)(p21;q14.1) and trisomy 12 in chronic lymphocytic leukemia.

    Science.gov (United States)

    de Oliveira, Fábio Morato; de Figueiredo Pontes, Lorena Lobo; Bassi, Sarah Cristina; Dalmazzo, Leandro Felipe Figueiredo; Falcão, Roberto Passetto

    2012-06-01

    We report a case of a 57-year-old man diagnosed with chronic lymphocytic leukemia (CLL) and presence of a rare t(6;13)(p21;q14.1) in association with an extra copy of chromosome 12. Classical cytogenetic analysis using the immunostimulatory combination of DSP30 and IL-2 showed the karyotype 47,XY,t(6;13)(p21;q14.1), +12 in 75% of the metaphase cells. Spectral karyotype analysis (SKY) confirmed the abnormality previously seen by G-banding. Additionally, interphase fluorescence in situ hybridization using an LSI CEP 12 probe performed on peripheral blood cells without any stimulant agent showed trisomy of chromosome 12 in 67% of analyzed cells (134/200). To the best of our knowledge, the association of t(6;13)(p21;q14.1) and +12 in CLL has never been described. The prognostic significance of these new findings in CLL remains to be elucidated. However, the patient has been followed up since 2009 without any therapeutic intervention and has so far remained stable.

  2. Multiple ocular abnormalities associated with trisomy 4p.

    Science.gov (United States)

    Hong, Samin; Kang, Sung Yong; Seong, Gong Je; Shin, Joo Youn; Kim, Chan Yun

    2008-01-01

    Ocular features associated with trisomy 4p have rarely been described. The authors have experienced multiple ocular abnormalities (bilateral cataracts, posterior synechiae, and posterior segment changes) associated with this chromosomal abnormality. It was presumed that these intraocular findings might be associated with the previous inflammatory process. In the current case, the patient recovered some useful vision after surgical removal of cataracts and intraocular lens implantations in both eyes. A detailed ophthalmic examination for patients with the autosomal imbalance is recom-mended.

  3. Overexpression of esterase D in kidney from trisomy 13 fetuses

    Energy Technology Data Exchange (ETDEWEB)

    Loughna, S.; Moore, G. (Institute of Obstetrics and Gynaecology, London (United Kingdom)); Gau, G.; Blunt, S. (Cytogenetics Lab., London (United Kingdom)); Nicolaides, K. (King' s College School of Medicine and Dentistry, London (United Kingdom))

    1993-10-01

    Human trisomy 13 (Patau syndrome) occurs in approximately 1 in 5,000 live births. It is compatible with life, but prolonged survival is rare. Anomalies often involve the urogenital, cardiac, craniofacial, and central nervous systems. It is possible that these abnormalities may be due to the overexpression of developmentally important genes on chromosome 13. The expression of esterase D (localized to chromosome 13q14.11) has been investigated in both muscle and kidney from trisomy 13 fetuses and has been compared with normal age- and sex-matched fetal tissues, by using northern analysis. More than a twofold increase in expression of esterase D was found in the kidney of two trisomy 13 fetuses, with normal levels in a third. Overexpression was not seen in the muscle tissues from these fetuses. 34 refs., 3 figs., 2 tabs.

  4. 14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma.

    Science.gov (United States)

    Cosson, Adrien; Chapiro, Elise; Belhouachi, Nabila; Cung, Hong-Anh; Keren, Boris; Damm, Frederik; Algrin, Caroline; Lefebvre, Christine; Fert-Ferrer, Sandra; Luquet, Isabelle; Gachard, Nathalie; Mugneret, Francine; Terre, Christine; Collonge-Rame, Marie-Agnes; Michaux, Lucienne; Rafdord-Weiss, Isabelle; Talmant, Pascaline; Veronese, Lauren; Nadal, Nathalie; Struski, Stephanie; Barin, Carole; Helias, Catherine; Lafage, Marina; Lippert, Eric; Auger, Nathalie; Eclache, Virginie; Roos-Weil, Damien; Leblond, Veronique; Settegrana, Catherine; Maloum, Karim; Davi, Frederic; Merle-Beral, Helene; Lesty, Claude; Nguyen-Khac, Florence

    2014-08-01

    Deletions of the long arm of chromosome 14 [del(14q)] are rare but recurrently observed in mature B-cell neoplasms, particularly in chronic lymphocytic leukemia (CLL). To further characterize this aberration, we studied 81 cases with del(14q): 54 of CLL and 27 of small lymphocytic lymphoma (SLL), the largest reported series to date. Using karyotype and fluorescence in situ hybridization (FISH), the most frequent additional abnormality was trisomy 12 (tri12), observed in 28/79 (35%) cases, followed by del13q14 (12/79, 15%), delTP53 (11/80, 14%) delATM (5/79, 6%), and del6q21 (3/76, 4%). IGHV genes were unmutated in 41/53 (77%) patients, with a high frequency of IGHV1-69 (21/52, 40%). NOTCH1 gene was mutated in 14/45 (31%) patients. There was no significant difference in cytogenetic and molecular abnormalities between CLL and SLL. Investigations using FISH and SNP-array demonstrated the heterogeneous size of the 14q deletions. However, a group with the same del(14)(q24.1q32.33) was identified in 48% of cases. In this group, tri12 (P = 0.004) and NOTCH1 mutations (P = 0.02) were significantly more frequent than in the other patients. In CLL patients with del(14q), median treatment-free survival (TFS) was 27 months. In conclusion, del(14q) is associated with tri12 and with pejorative prognostic factors: unmutated IGHV genes (with over-representation of the IGHV1-69 repertoire), NOTCH1 mutations, and a short TFS. © 2014 Wiley Periodicals, Inc.

  5. Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells

    Directory of Open Access Journals (Sweden)

    Meng-Che Tsai

    2014-12-01

    Conclusion: Conventional karyotyping through amniocentesis has limitations particularly in detecting rare trisomy mosaicism if trisomic cells show growth disadvantage. Array-CGH using uncultured cells may be of help in providing more information on genetic dosage variations in such cases.

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

    Science.gov (United States)

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

    2008-06-01

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

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

    Indian Academy of Sciences (India)

    MAURIZIA COLANGELO

    2018-02-24

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

  8. Trisomy 13 in a patient with common acute lymphoblastic leukemia: description of a case and review of the literature.

    Science.gov (United States)

    Spirito, Francesca R; Mancini, Marco; Derme, Valentina; Cimino, Giuseppe; Testi, Anna Maria; Tafuri, Agostino; Vitale, Antonella; Foà, Robin

    2003-07-01

    Trisomy 13 occurring as a single cytogenetic abnormality has been associated with undifferentiated or biphenotypic acute leukemias and with an adverse prognostic outcome. We describe for the first time a case of B-cell common acute lymphoblastic leukemia (ALL) with trisomy 13 at diagnosis in an 18-year-old boy. The leukemic cells did not express myelocytic or T-cell associated antigens and no molecular abnormalities were detected. Following treatment, according to the GIMEMA ALL 0496 protocol, the patient achieved a brief (2 months) complete remission. At relapse, cytogenetic analysis showed karyotypic evolution that included two novel subclones carrying a del(6q), a del(7q), and an add(17q) in association with trisomy 13. In addition, immunophenotypic analysis revealed the coexpression of the CD33 and CD7 antigens on common ALL blasts, in accordance with other reported cases that displayed a predominant biphenotypic leukemia profile. The patient failed to obtain a second remission and died soon after due to infective complications. This report indicates that trisomy 13 can be found also in B-lineage ALL and underlines that this cytogenetic abnormality may identify a subgroup of male patients with clonal evolution potential and an adverse clinical outcome.

  9. Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.

    Directory of Open Access Journals (Sweden)

    Qiong Pan

    Full Text Available Complex chromosome rearrangements (CCRs, which are rather rare in the whole population, may be associated with aberrant phenotypes. Next-generation sequencing (NGS and conventional techniques, could be used to reveal specific CCRs for better genetic counseling. We report the CCRs of a girl and her mother, which were identified using a combination of NGS and conventional techniques including G-banding, fluorescence in situ hybridization (FISH and PCR. The girl demonstrated CCRs involving chromosomes 3 and 8, while the CCRs of her mother involved chromosomes 3, 5, 8, 11 and 15. HumanCytoSNP-12 Chip analysis identified a 35.4 Mb duplication on chromosome 15q21.3-q26.2 in the proband and a 1.6 Mb microdeletion at chromosome 15q21.3 in her mother. The proband inherited the rearranged chromosomes 3 and 8 from her mother, and the duplicated region on chromosome 15 of the proband was inherited from the mother. Approximately one hundred genes were identified in the 15q21.3-q26.2 duplicated region of the proband. In particular, TPM1, SMAD6, SMAD3, and HCN4 may be associated with her heart defects, and HEXA, KIF7, and IDH2 are responsible for her developmental and mental retardation. In addition, we suggest that a microdeletion on the 15q21.3 region of the mother, which involved TCF2, TCF12, ADMA10 and AQP9, might be associated with mental retardation. We delineate the precise structures of the derivative chromosomes, chromosome duplication origin and possible molecular mechanisms for aberrant phenotypes by combining NGS data with conventional techniques.

  10. Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions.

    Science.gov (United States)

    Nicolaidis, P; von Beust, G; Bugge, M; Karadima, G; Vassilopoulos, D; Brøndum-Nielsen, K; Petersen, M B

    1998-01-01

    To determine the origin of the extra chromosome in trisomy 8 in spontaneous abortions. We analyzed 4 cases of nonmosaic trisomy 8 in 1st-trimester spontaneous abortions and their parents with DNA polymorphism analysis using microsatellite DNA markers. In 3 cases the extra chromosome was maternal in origin and in 1 case paternal in origin. In 2 of the cases the nondisjunction had occurred in maternal meiosis, while the other 2 cases were consistent with a postzygotic (mitotic) origin of the additional chromosome. Although a small number of cases studied, these results suggest differences from the common autosomal trisomies 21, 18, 16, and 13 where the vast majority of cases are due to errors in maternal meiosis.

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

    Science.gov (United States)

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

    2010-02-01

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

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

    Science.gov (United States)

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

    2017-12-01

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

  13. Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-arm translocation.

    Science.gov (United States)

    Pota, Pruthvi; Grammatopoulou, Vasiliki; Torti, Erin; Braddock, Stephen; Batanian, Jacqueline R

    2014-01-01

    Constitutional chromosome instability so far has mainly been associated with ring formation. In addition, isochromosome formation involving the short arm with translocation of the entire long arm is rarely observed. This type of rearrangement has been reported for chromosomes 4, 5, 7, 9, 10, 12, and 20. Here, we present the third patient having an isochromosome 4p with 4q translocation, but showing for the first time chromosome instability detected by FISH following chromosome microarray analysis.

  14. Williams Syndrome and 15q Duplication: Coincidence versus Association.

    Science.gov (United States)

    Khokhar, Aditi; Agarwal, Swashti; Perez-Colon, Sheila

    2017-01-01

    Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN -specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.

  15. Wilms tumor in a child with trisomy 13.

    Science.gov (United States)

    Sweeney, H; Pelegano, J

    2000-01-01

    A 4-year-old black boy with trisomy 13, a history of frequent urinary tract infections, and a horseshoe kidney with painless gross hematuria was examined. An abdominal mass was detected and surgically resected. Examination of the surgical specimen revealed a Wilms tumor. Given the concurrence of trisomy 13 and Wilms tumor and the presence of another such case in the literature, there may be just cause to suspect a locus on chromosome 13 that affects the probability of developing Wilms tumor. Given the increasingly longer survival of patients with trisomy 13, clinicians may need to be aware of the possibility of renal malignant disease in this population of patients.

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

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2011-06-01

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

  17. Lymphocyte respiration in children with Trisomy 21

    Directory of Open Access Journals (Sweden)

    Aburawi Elhadi H

    2012-12-01

    Full Text Available Abstract Background This study measured lymphocyte mitochondrial O2 consumption (cellular respiration in children with trisomy 21. Methods Peripheral blood mononuclear cells were isolated from whole blood of trisomy 21 and control children and these cells were immediately used to measure cellular respiration rate. [O2] was determined as a function of time from the phosphorescence decay rates (1/τ of Pd (II-meso-tetra-(4-sulfonatophenyl-tetrabenzoporphyrin. In sealed vials containing lymphocytes and glucose as a respiratory substrate, [O2] declined linearly with time, confirming the zero-order kinetics of O2 conversion to H2O by cytochrome oxidase. The rate of respiration (k, in μM O2 min-1, thus, was the negative of the slope of [O2] vs. time. Cyanide inhibited O2 consumption, confirming that oxidation occurred in the mitochondrial respiratory chain. Results For control children (age = 8.8 ± 5.6 years, n = 26, the mean (± SD value of kc (in μM O2 per min per 107 cells was 1.36 ± 0.79 (coefficient of variation, Cv = 58%; median = 1.17; range = 0.60 to 3.12; -2SD = 0.61. For children with trisomy 21 (age = 7.2 ± 4.6 years, n = 26, the values of kc were 0.82 ± 0.62 (Cv = 76%; median = 0.60; range = 0.20 to 2.80, pp6.1 mU/L. Fourteen of 26 (54% children with trisomy 21 had kc values of 0.20 to 0.60 (i.e., kc positively correlated with body-mass index (BMI, R >0.302, serum creatinine (R >0.507, blood urea nitrogen (BUN, R >0.535 and albumin (R >0.446. Conclusions Children with trisomy 21 in this study have reduced lymphocyte bioenergetics. The clinical importance of this finding requires further studies.

  18. Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.

    Science.gov (United States)

    Flores-Ramírez, Francisco; Palacios-Guerrero, Claudia; García-Delgado, Constanza; Morales-Jiménez, Ariadna Berenice; Arias-Villegas, Christian Martín; Cervantes, Alicia; Morán-Barroso, Verónica Fabiola

    2015-08-01

    Trisomy 21 is the most frequent genetic cause of intellectual disability. It is caused by different cytogenetic aberrations: free trisomy, Robertsonian translocations, mosaicism, duplication of the critical region and other structural rearrangements of chromosome 21. The aim of the study was to identify in Mexican trisomy 21 patients who attended Hospital Infantil de México Federico Gómez from 1992-2011 the type and frequency of the cytogenetic aberration and to evaluate the effect of maternal age. A retrospective analysis of epidemiological data and karyotype reports were carried out; type and frequency of the cytogenetic variants were determined. We identified 2,018 cases referred with a clinical diagnosis of trisomy 21. In 1,921 analyses (95.2%) a cytogenetic variant of trisomy 21 was identified: free trisomy 21 in 1,787 cases (93.02%), four cases (0.21%) had an additional non-contributory aberration; Robertsonian translocations in 92 cases (4.79%); mosaicism in 31 cases (1.61%) and seven cases (0.36%) had other chromosomal abnormalities, five (0.26%) had other contributory structural rearrangements and two corresponded to double aneuploidies (0.10%). Gender distribution was 1,048 (54.56%) males and 873 (45.44%) females. A maternal age effect was observed in patients with free trisomy 21 with mothers >36 years of age. The present work reports the experience of a Mexican referral center regarding the karyotype diagnosis of patients with trisomy 21 and is one of the most extensive studies published so far. Percentages of the cytogenetic abnormalities present in our population reflect the ones previously reported for these cytogenetic alterations worldwide. Copyright © 2015 IMSS. Published by Elsevier Inc. All rights reserved.

  19. Natural histroy of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk

    Energy Technology Data Exchange (ETDEWEB)

    Baty, B.J.; Blackburn, B.L.; Carey, J.C. [Univ. of Utah School of Medicine, Salt Lake City, UT (United States)

    1994-01-15

    The natural history of trisomy 18 and trisomy 13 was investigated using data derived from parent questionnaires and medical records from 98 families with an index case of trisomy 18 and 32 families with an index case of trisomy 13. Data are presented on pregnancy, delivery, survival, medical complications, immunizations, growth, cause of death, cytogenetics, and recurrence risk. Half of the trisomy 18 babies were delivered by C-section. Fetal distress was a factor in half, and the only reason in a third of C-section deliveries. One minute Apgar scores were significantly lower in C-section and breech deliveries. There were more small-for-gestational-age babies than in the general population, but most of the low-birth-weight newborns were small for gestational age, unlike the general population. Survival in this group of children was better than in other studies due to ascertainment bias. There were more girls than boys at all ages for both conditions, and the sex ratio decreased with time. Growth curves for length, weight, head circumference, and weight vs height are provided. Long-term survival did not appear to be due to mosaicism. There were no adverse reactions attributable to immunizations. At age 1 year there was an average of approximately 2 operations per living child. The authors report the second case of successful major cardiac surgery in a trisomy 18 child. Almost 70% of deaths were attributed to cardiopulmonary arrest. The sibling recurrence risk for trisomy 18 or trisomy 13 was 0.55%. 86 refs., 5 figs., 5 tabs.

  20. Chromosomal Abnormalities Associated With Omphalocele

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

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

  1. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.

    Science.gov (United States)

    Karadima, G; Bugge, M; Nicolaidis, P; Vassilopoulos, D; Avramopoulos, D; Grigoriadou, M; Albrecht, B; Passarge, E; Annerén, G; Blennow, E; Clausen, N; Galla-Voumvouraki, A; Tsezou, A; Kitsiou-Tzeli, S; Hahnemann, J M; Hertz, J M; Houge, G; Kuklík, M; Macek, M; Lacombe, D; Miller, K; Moncla, A; López Pajares, I; Patsalis, P C; Petersen, M B

    1998-01-01

    Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms underlying nondisjunction we have performed a molecular study on trisomy 8 and trisomy 8 mosaicism. We report the results on analyses of 26 probands (and parents) using 19 microsatellite DNA markers mapping along the length of chromosome 8. The 26 cases represented 20 live births, four spontaneous abortions, and two prenatal diagnoses (CVS). The results of the nondisjunction studies show that 20 cases (13 maternal, 7 paternal) were probably due to mitotic (postzygotic) duplication as reduction to homozygosity of all informative markers was observed and as no third allele was ever detected. Only two cases from spontaneous abortions were due to maternal meiotic nondisjunction. In four cases we were not able to detect the extra chromosome due to a low level of mosaicism. These results are in contrast to the common autosomal trisomies (including mosaics), where the majority of cases are due to errors in maternal meiosis.

  2. Trisomy 21 and Risk of Retinopathy of Prematurity.

    Science.gov (United States)

    Movsas, Tammy Z; Spitzer, Alan R; Gewolb, Ira H

    2015-08-01

    Trisomy 21 is known to decrease the risk of several (nonocular) angiogenic-mediated diseases. The objective of this study was to determine whether trisomy 21 can also be shown to be significantly protective against ocular angiogenic-mediated disorders such as retinopathy of prematurity (ROP). A retrospective analysis of deidentified data from the Pediatrix BabySteps Clinical Warehouse. This large repository of neonatal data is approved for use in research studies by the Western Institutional Review Board. The study population consisted of 99,080 infants with very low birth weights (BWs; BW 300 US NICUs, and who had been discharged alive from hospital. Statistical significance for unadjusted comparisons between groups was determined with Pearson's χ(2) test or Student's t test. Logistic regression models were used to calculate the odds of ROP (of any stage) and advanced ROP (stage 3 or greater) for infants with trisomy 21 compared with all other infants. The prevalence of trisomy 21 was 0.3% in the study population (321 of 99,080). After adjustment for BW, gestational age, oxygen exposure, and other potential confounders, there was an odds ratio of 0.6 (95% confidence interval: 0.5-0.8) for ROP in infants with trisomy 21compared with other infants and an odds ratio of 0.4 (95% confidence interval: 0.1-0.9) for advanced-stage ROP. Trisomy 21 significantly decreases the odds for ROP in very low BW infant survivors. This study unmasks a potentially identifiable genetic component to ROP risk, paving the way for the development of a laboratory-based ROP screening tool. Copyright © 2015 by the American Academy of Pediatrics.

  3. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.

    NARCIS (Netherlands)

    Chen, E.Z.; Chiu, R.W.; Sun, H; Akolekar, R.; Chan, K.C.; Leung, T.Y.; Jiang, P.; Zheng, Y.W.; Lun, F.M.; Chan, L.Y.; Jin, Y.; Go, A.T.; Lau, E.T; To, W.W.; Leung, W.C.; Tang, R.Y.; Au-Yeung, S.K.; Lam, H.; Kung, Y.Y.; Zhang, X.; Vugt, J.M.G. van; Minekawa, R.; Tang, M.H.; Wang, J.; Oudejans, C.B.; Lau, T.K.; Nicolaides, K.H.; Lo, Y.M.

    2011-01-01

    Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due

  4. Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-03-01

    Full Text Available Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13.

  5. [Trisomy 21 in visual art].

    Science.gov (United States)

    Stahl, A; Tourame, P

    2013-12-01

    In 1866, J. Langdon Down published a paper on "an ethnic classification of idiots" and noted their facial resemblance with individuals of the Mongolian people. In 1959, J. Lejeune, M. Gautier, and R. Turpin demonstrated that the children with Down syndrome had an extra copy of chromosome 21. There is now a debate within the medical literature on the age of trisomy 21 as a disease affecting mankind. Since it was not described before 1866, some authors questioned whether this disease is an old or new condition in humans. Three methods of investigation are useful for demonstrating that trisomy 21 has been present in humans for a long time: the figuration of this condition in historical paintings, figurines, and pottery; its presence in old skeletal remains; and the origin of human chromosome 21 during primate phylogeny. Figurines strongly suggestive of trisomy 21 have been found in the Greco-Roman world, in many Central and South American pre-Columbian cultures, and in Khmer temples. In Europe, during the Renaissance, Italian and Flemish artists represented trisomy 21 in paintings of religious inspiration. Studies on the origin and pathology of chromosome 21 have shown that the ancestral human chromosome 21 arose 30-50 million years ago and that trisomy 21 has existed since time immemorial. Copyright © 2013. Published by Elsevier SAS.

  6. [Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy].

    Science.gov (United States)

    Emer, Caroline Soares Cristofari; Duque, Julio Alejandro Peña; Müller, Ana Lúcia Letti; Gus, Rejane; Sanseverino, Maria Teresa Vieira; da Silva, André Anjos; Magalhães, José Antonio de Azevedo

    2015-07-01

    To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05). Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; pmalformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (pmalformations identified at ultrasound are suggestive of trisomy and represent an important tool for etiologic diagnosis and prenatal and pre-conception genetic counseling.

  7. Trisomy 9 Mosaicism Diagnosed In Utero

    Directory of Open Access Journals (Sweden)

    Hironori Takahashi

    2010-01-01

    Full Text Available We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR, each of which resulted in an intrauterine fetal demise (IUFD in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted in a live birth with severe development delay. A major prenatal finding of trisomy 9 mosaicism is FGR. Fetuses with trisomy 9 mosaicism can rarely survive in the case of severe FGR.

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

    NARCIS (Netherlands)

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

    1993-01-01

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

  9. Chromosome 10q tetrasomy: First reported case

    Energy Technology Data Exchange (ETDEWEB)

    Blackston, R.D.; May, K.M.; Jones, F.D. [Emory Univ., Atlanta, GA (United States)] [and others

    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 with 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.

  10. Repair of x-ray induced chromosomal damage in trisomy 2- and normal diploid lymphocytes

    International Nuclear Information System (INIS)

    Countryman, P.I.; Heddle, J.A.; Crawford, E.

    1977-01-01

    The frequency of chromosomal aberrations produced by x-rays is greater in lymphocytes cultured from trisomy 21 patients (Down's syndrome) than from normal diploid donors. This increase, which can be detected by a micronucleus assay for chromosomal damage, was postulated by us to result from a defect in the rejoining system which repairs chromosomal breaks. The postulated defect would result in a longer rejoining time, therapy permitting more movement of broken ends and thus enhancing the frequency of exchanges. To test this possibility, the time required for the rejoining (repair) of chromosome breaks was measured in lymphocytes from five Down's syndrome (four trisomy 21 and one D/G translocation partial trisomy 21) donors, from a monosomy 21 donor, and from five diploid donors. The rejoining time was reduced in the Down's syndrome lymphocytes in comparison to the normal diploid and monosomy 21 lymphocytes. Thus the repair of chromosome breaks, far from being defective as evidenced by a longer rejoining time in Down's syndrome cells, occurred more rapidly than in normal cells

  11. Trisomy 21 and facial developmental instability.

    Science.gov (United States)

    Starbuck, John M; Cole, Theodore M; Reeves, Roger H; Richtsmeier, Joan T

    2013-05-01

    The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how trisomy 21 alters craniofacial morphogenesis to create this characteristic appearance. Proponents of the "amplified developmental instability" hypothesis argue that trisomy 21 causes a generalized genetic imbalance that disrupts evolutionarily conserved developmental pathways by decreasing developmental homeostasis and precision throughout development. Based on this model, we test the hypothesis that DS faces exhibit increased developmental instability relative to euploid individuals. Developmental instability was assessed by a statistical analysis of fluctuating asymmetry. We compared the magnitude and patterns of fluctuating asymmetry among siblings using three-dimensional coordinate locations of 20 anatomic landmarks collected from facial surface reconstructions in four age-matched samples ranging from 4 to 12 years: (1) DS individuals (n = 55); (2) biological siblings of DS individuals (n = 55); 3) and 4) two samples of typically developing individuals (n = 55 for each sample), who are euploid siblings and age-matched to the DS individuals and their euploid siblings (samples 1 and 2). Identification in the DS sample of facial prominences exhibiting increased fluctuating asymmetry during facial morphogenesis provides evidence for increased developmental instability in DS faces. We found the highest developmental instability in facial structures derived from the mandibular prominence and lowest in facial regions derived from the frontal prominence. Copyright © 2013 Wiley Periodicals, Inc.

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

    Science.gov (United States)

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

    2013-05-02

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

  13. Prognostic value of trisomy 8 as a single anomaly and the influence of additional cytogenetic aberrations in primary myelodysplastic syndromes.

    Science.gov (United States)

    Saumell, Sílvia; Florensa, Lourdes; Luño, Elisa; Sanzo, Carmen; Cañizo, Consuelo; Hernández, Jesus M; Cervera, José; Gallart, Miguel A; Carbonell, Félix; Collado, Rosa; Arenillas, Leonor; Pedro, Carme; Bargay, Joan; Nomdedeu, Benet; Xicoy, Blanca; Vallespí, Teresa; Raya, José M; Belloch, Luis; Sanz, Guillermo F; Solé, Francesc

    2012-11-01

    Trisomy 8 is the most common chromosomal gain in myelodysplastic syndromes (MDS), however, little is known about the features of MDS with isolated trisomy 8 and the influence of additional cytogenetic aberrations. We determined the characteristics and prognostic factors of 72 patients with trisomy 8 as a single anomaly and analysed also the impact of other aberrations added to trisomy 8 in another 62 patients. According to our study, MDS with isolated trisomy 8 was more frequent in men, with more than one cytopenia in most patients (62%) and having about 4% bone marrow blasts. The multivariate analysis demonstrated that platelet count and percentage bone marrow blasts had the strongest impact on overall survival (OS). The median OS for isolated trisomy 8, trisomy 8 plus one aberration (tr8 + 1), plus two (tr8 + 2) and plus three or more aberrations (tr8 + ≥3) was 34·3, 40, 23·4 and 5·8 months, respectively (P < 0·001). Trisomy 8 confers a poorer prognosis than a normal karyotype in MDS patients with ≥5% bone marrow blasts. This study supports the view that MDS with isolated trisomy 8 should be included in the intermediate cytogenetic risk group. © 2012 Blackwell Publishing Ltd.

  14. Hematological malignancies with t(9;11)(p21-22;q23)--a laboratory and clinical study of 125 cases. European 11q23 Workshop participants.

    Science.gov (United States)

    Swansbury, G J; Slater, R; Bain, B J; Moorman, A V; Secker-Walker, L M

    1998-05-01

    This paper reports clinical and cytogenetic data from 125 cases with t(9;11)(p21-22;q32) which were accepted for a European Union Concerted Action Workshop on 11q23. This chromosome abnormality is known to occur predominantly in acute myeloid leukemia (AML) FAB type M5a and less often in AML M4; in this series it was also found to occur, uncommonly, in other AML FAB types, in childhood acute lymphoblastic leukemia (ALL) (nine cases), in relatively young patients with myelodysplastic syndrome (MDS) (five cases), acute biphenotypic leukemia (two cases), and acute undifferentiated leukemia (one case). All age groups were represented but 50% of the patients were aged less than 15 years. The t(9;11) was the sole abnormality in 57 cases with AML; trisomy 8 was the most common additional abnormality (23 cases, including seven with further abnormalities), and 28 cases had other additional abnormalities. Among the t(9;11)+ve patients with AML, the white cell count (WBC) and age group were significant predictors of event-free survival; central nervous system (CNS) involvement or karyotype class (sole, with trisomy 8, or with other), also contributed to prognosis although our data could not show these to be independent factors. The best outcome was for patients aged 1-9 years, with low WBC, and with absence of CNS disease or presence of trisomy 8. For patients aged less than 15 years, the event-free survival for ALL patients was not significantly worse than that of AML patients.

  15. Prenatal ultrasonography of trisomy 18 with radial aplasia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jee Young; Lee, Yeon Hee [Dankook University College of Medicine, Seoul (Korea, Republic of)

    2002-06-15

    Trisomy 18 (Edward syndrome) is the second most common chromosomal anomaly of the autosomal trisomy. Prenatal diagnosis of trisomy 18 is extremely important because of the complex malformations and lethal prognosis. Prenatal sonographic findings at 17 weeks of gestation showing radial aplasia with upper limb contracture, omphalocele, and suspicious esophageal atresia suggested the diagnosis and led to amniocentesis. Karyotyping revealed trisomy 18 (47 XX, +18, and characteristic autopsy findings were identified. We report a case of prenatally diagnosed trisomy 18 with a review of literatures.

  16. Prenatal ultrasonography of trisomy 18 with radial aplasia: A case report

    International Nuclear Information System (INIS)

    Lee, Jee Young; Lee, Yeon Hee

    2002-01-01

    Trisomy 18 (Edward syndrome) is the second most common chromosomal anomaly of the autosomal trisomy. Prenatal diagnosis of trisomy 18 is extremely important because of the complex malformations and lethal prognosis. Prenatal sonographic findings at 17 weeks of gestation showing radial aplasia with upper limb contracture, omphalocele, and suspicious esophageal atresia suggested the diagnosis and led to amniocentesis. Karyotyping revealed trisomy 18 (47 XX, +18, and characteristic autopsy findings were identified. We report a case of prenatally diagnosed trisomy 18 with a review of literatures.

  17. Congenital anomalies associated with trisomy 18 or trisomy 13

    DEFF Research Database (Denmark)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth

    2015-01-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and term...

  18. Dysregulation of gene expression in the artificial human trisomy cells of chromosome 8 associated with transformed cell phenotypes.

    Directory of Open Access Journals (Sweden)

    Hisakatsu Nawata

    Full Text Available A change in chromosome number, known as aneuploidy, is a common characteristic of cancer. Aneuploidy disrupts gene expression in human cancer cells and immortalized human epithelial cells, but not in normal human cells. However, the relationship between aneuploidy and cancer remains unclear. To study the effects of aneuploidy in normal human cells, we generated artificial cells of human primary fibroblast having three chromosome 8 (trisomy 8 cells by using microcell-mediated chromosome transfer technique. In addition to decreased proliferation, the trisomy 8 cells lost contact inhibition and reproliferated after exhibiting senescence-like characteristics that are typical of transformed cells. Furthermore, the trisomy 8 cells exhibited chromosome instability, and the overall gene expression profile based on microarray analyses was significantly different from that of diploid human primary fibroblasts. Our data suggest that aneuploidy, even a single chromosome gain, can be introduced into normal human cells and causes, in some cases, a partial cancer phenotype due to a disruption in overall gene expression.

  19. Double trisomy (48,XXX,+18) with features of Roberts syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Descartes, M.; Longshore, J.W.; Crawford, E. [Univ. of Alabama, Birmingham, AL (United States)] [and others

    1994-09-01

    We report an infant with double trisomy 48,XXX,+18, who also displayed features of Roberts syndrome. All previously published cases with similar double trisomy have presented with features of trisomy 18 syndrome. The chromosome analysis done at birth revealed the double trisomy; parental chromosomes were normal. The proband presented with microbrachycephaly, unilateral cleft lip and palate, choanal atresia, midfacial capillary hemanioma, thin nares, shallow orbits, malformed ears, sparse hair, hypomelia of the upper limbs, rocker-bottom feet, auricular septal defect and agenesis of the corpus callosum. Characteristic features of Roberts syndrome included hypomelia, midfacial defects, and severe growth deficiency. Among the many different features reported in the literature for patients with trisomy 18 syndrome, the most consistent were growth deficiency, clenched fingers and congenital heart defects (e.g. VSD, ASD, PDA). Although some of our patient`s features such as cleft lip and cleft palate, low-set malformed ears, ASD, defects of the corpus callosum, choanal atresia, radial aplasia could also be seen in trisomy 18 syndrome (in 10-50% of the cases), her phenotype was more typical of Roberts syndrome because of symmetrical hypomelia and midfacial defects. Our patient`s chromosomes did not show premature separation of centromeric heterochromatin, a feature reported to occur in approximately one-half of individuals with Roberts syndrome. Sporadic aneuploidy involving different chromosomes has been found in lymphocyte cultures from some Roberts syndrome patients and is considered by some authors as a mitotic mutant. This aneuploidy is most likely to be chromosome gain. The simultaneous occurrence of trisomy X and 18 is extremely rare with only 11 cases having been reported in the literature. Our patient is unique since she has the double trisomy in addition to the characteristic features of Roberts syndrome.

  20. Constitutional trisomy 8 and Behçet syndrome.

    Science.gov (United States)

    Becker, Kristin; Fitzgerald, Oliver; Green, Andrew J; Keogan, Mary; Newbury-Ecob, Ruth; Greenhalgh, Lynn; Withers, Stephen; Hollox, Edward J; Aldred, Patricia M R; Armour, John A L

    2009-05-01

    The characteristic clinical features of constitutional trisomy 8 include varying degrees of developmental delay, joint contractures and deep palmar and plantar creases. There is an established literature, which describes features of Behçet syndrome occurring in phenotypically normal individuals with myelodysplastic syndromes and trisomy 8 in their bone marrow. In this article, we describe four patients with constitutional trisomy 8, all with varying clinical phenotypes, who developed features of Behçet, in particular but not exclusively mucocutaneous ulceration. In addition, we examined gene copy numbers of the variable-number neutrophil defensin genes DEFA1A3 in one of the cases (case 1) and her parents, together with 14 cases of Behçet syndrome in comparison with 121 normal controls. The gene copy number was highest in case 1 (copy number 14) and was also increased in her parents (both copy number 9). However the mean copy number for DEFA1A3 among the 14 Behçet syndrome patients was actually lower (5.1) than among the controls (mean of 6.8 copies). Thus, we conclude that patients with constitutional trisomy 8 and those with trisomy 8 confined to the bone marrow are both at increased risk of developing features of Behçet syndrome. The mechanism may relate to increased chromosome 8 gene dosage with further analysis of candidate genes on chromosome 8 required.

  1. Complete trisomy 14 mosaicism: first live-born case in Korea

    Directory of Open Access Journals (Sweden)

    Yun Jung Hur

    2012-10-01

    Full Text Available Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive with the 47,XX,+14/46,XX chromosome complement.

  2. Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21

    Directory of Open Access Journals (Sweden)

    Ori Shen

    2014-04-01

    Full Text Available The aim of this study was to examine if isolated fetal ventricular septal defect (VSD is associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a pediatric cardiologist were reviewed. Cases with known risk factors for congenital heart disease, the presence of other major anomalies, soft signs for trisomy 21 or a positive screen test for trisomy 21 were excluded. Ninety two cases formed the study group. None of the cases in the study group had trisomy 21. The upper limit of prevalence for trisomy 21 in isolated VSD is 3%. When prenatal VSD is not associated with other major anomalies, soft markers for trisomy 21 or a positive nuchal translucency or biochemical screen, a decision whether to perform genetic amniocentesis should be individualized. The currently unknown association between isolated VSD and microdeletions and microduplications should be considered when discussing this option.

  3. Prenatal detection of microtia by MRI in a fetus with trisomy 22

    International Nuclear Information System (INIS)

    Milic, Andrea; Blaser, Susan; Robinson, Ashley; Viero, Sandra; Halliday, William; Winsor, Elizabeth; Toi, Ants; Thomas, Micki; Chitayat, David

    2006-01-01

    Trisomy 22 is a rare chromosomal abnormality infrequently detected prenatally. External ear abnormalities, in particular microtia, are often associated with trisomy 22, but prenatal detection of microtia has not been reported in association with trisomy 22. We report a fetus with trisomy 22, with fetal MRI findings of microtia, craniofacial dysmorphism, and polygyria. Fetal MRI is a useful tool for auricular assessment and might have utility in the prenatal detection of chromosomal abnormalities, especially among fetuses with structural anomalies. (orig.)

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

    Science.gov (United States)

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

    2007-01-01

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

  5. Constitutional trisomy 8 mosaicism syndrome: case report and review.

    Science.gov (United States)

    Udayakumar, Achandira M; Al-Kindy, Adila

    2013-12-01

    Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder.

  6. DEVELOPMENTAL FOLLOW-UP OF A FEMALE INFANT WITH RECOMBINANT DOWN SYNDROME UP TO THREE AND A HALF YEARS

    Directory of Open Access Journals (Sweden)

    Darija Strah

    2018-02-01

    Full Text Available Background: Recombinant Down Syndrome with partial duplication of the long arm of chromosome 21 represents a rare form of partial trisomy 21. The cause is mostly chromosome rearrangement- pericentric inversion of maternal or paternal homologous chromosome 21 and duplication of Down syndrome critical region p11.1q22.1, resulting in a child with phenotypical signs of classical Down syndrome with psychomotorical developmental delay. Methods: We describe a Down sydrome female infant with partial trisomy of chromosome 21. Ultra- sound screening for Down syndrome in the first trimester of pregnancy determined high risk for chromosomal abnormality. Amniocentesis showed normal prenatal karyotype. After birth a female infant started to show symptoms and signs, typical for classical Down syndrome. Postnatal karyotype revealed pericentric inversion and duplication of one chro- mosome 21 of maternal origin in the p11.1q22.1 region. The follow up of female infant up to three and a half years shows signs of psychomotorical delay with no structural defects. Therefore her developmental amelioration is less expressed compared to classical Down syndrome. Conclusions: Developmental follow up of a girl with partial trisomy 21 reveals a lot of similarities with the development of children with classical trisomy 21, but less expressed: facial gestalt, short statue, hypotonia and intellectual disabilities. Global developmental delay in spite of developmental treatment grows more and more evidently.

  7. A review of trisomy X (47,XXX).

    Science.gov (United States)

    Tartaglia, Nicole R; Howell, Susan; Sutherland, Ashley; Wilson, Rebecca; Wilson, Lennie

    2010-05-11

    Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and adolescents benefit from a

  8. A review of trisomy X (47,XXX

    Directory of Open Access Journals (Sweden)

    Sutherland Ashley

    2010-05-01

    Full Text Available Abstract Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX. It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression, and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and

  9. Double trisomy 48,XXX,+18 with multiple dysmorphic features.

    Science.gov (United States)

    Jiang, Zi-Yan; Wu, Xiao-Hui; Zou, Chao-Chun

    2015-02-01

    Chromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. However, the double trisomy 48,XXX,+18 is a rare chromosome abnormality. Case report and literature review. A 7-hour-old girl presented to our unit because of poor response after birth. She presented with multiple dysmorphic features, including small for gestational age infant, flat nasal bridge, widely-spaced eyes, the left thumb deformities, flat facial profile, raised sternum, ventricular septal defect, the third lateral brain ventricle enlargement, and small liver. This case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+18. The literature on 16 fetuses or infants with the 48,XXX,+18 were also reviewed. These data suggested that in patients with clinical features similar to trisomy 18, especially with anomalies of the ears and/or reproductive malformations, double trisomy (48,XXX,+18) should be considered and karyotyping should be performed although it is a rare disease.

  10. Methods for genetic linkage analysis using trisomies.

    OpenAIRE

    Feingold, E; Lamb, N E; Sherman, S L

    1995-01-01

    Certain genetic disorders are rare in the general population, but more common in individuals with specific trisomies. Examples of this include leukemia and duodenal atresia in trisomy 21. This paper presents a linkage analysis method for using trisomic individuals to map genes for such traits. It is based on a very general gene-specific dosage model that posits that the trait is caused by specific effects of different alleles at one or a few loci and that duplicate copies of "susceptibility" ...

  11. A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

    Directory of Open Access Journals (Sweden)

    Regina Ferreira Rezek

    2014-01-01

    Full Text Available We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22t(8;22(q22.1;p11.1mat. Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other “pure” trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts.

  12. Trisomy 18 Syndrome with Incomplete Cantrell Syndrome

    Directory of Open Access Journals (Sweden)

    Yi-Jen Hou

    2008-06-01

    Full Text Available The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the lower sternum, abnormalities of the diaphragmatic pericardium and the anterior diaphragm, and congenital cardiac anomalies. Trisomy 18 has an incidence of about 0.3 per 1000 newborns. We present a case of trisomy 18 with incomplete Cantrell syndrome. The patient presented with hypogenesis of the corpus callosum, vermian-cerebellar hypoplasia (Dandy-Walker variant, ventricular septal defect, dextrocardia, patent ductus arteriosus, a defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia, micrognathia, low-set and malformed ears, rocker-bottom feet, dorsiflexed hallux, hypoplastic nails, short neck, and wrist deformity. Trisomy 18 syndrome was unusually combined with the pentalogy of Cantrell. We present this case because of its rarity and high risk of mortality.

  13. Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18.

    Science.gov (United States)

    Janvier, Annie; Farlow, Barbara; Barrington, Keith J

    2016-09-01

    Trisomy 13 and 18 are life-limiting conditions for which a palliative approach is frequently recommended. The objective of this study was to examine parental goals/decisions, the length of life of their child and factors associated with survival. Parents of children who lived with trisomy 13 or 18 that were part of English-speaking social networks were invited to participate in a questionnaire study. Participants answered questions about their hopes/goals, decisions regarding neonatal interventions, and the duration of their children's lives. The participants were 332 parents who answered questions about their 272 children (87% response rate based on site visits; 67% on invitations sent). When parents were asked about their hope after the diagnosis, the main themes invoked by parents were the following: meet their child alive (80% of parents with a prenatal diagnosis), spend some time as a family (72%), bring their child home (52%), and give their child a good life (66%). Parents wanted to give them a chance, but also reported their fears were medical complexity, pain and/or life in the hospital (61%). Healthcare providers recommended comfort care at birth to all parents. Life-sustaining interventions "as for any other child" was chosen as a plan of care by 25% of parents. Of the 216 children with full trisomy, 69% were discharged home after birth and 40% lived >1 y. The presence of a prenatal diagnosis was the strongest independent factor negatively associated with longevity: 36% of children with a prenatal diagnosis lived survival (P care at birth consisted of limited interventions, whereas after a postnatal diagnosis (median age of 6 days) it consisted of various interventions, including oxygen, ventilation, tube feeding and intravenous fluids, complicating the analysis. In conclusion, the goals of parents of children with trisomy 13 or 18 were to meet their child, be discharged home and be a family. Having a postnatal diagnosis was the independent factor

  14. Partial deletion 11q

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Tommerup, N; Sørensen, F B

    1995-01-01

    We describe the cytogenetic findings and the dysmorphic features in a stillborn girl with a large de novo terminal deletion of the long arm of chromosome 11. The karyotype was 46,XX,del(11)(q21qter). By reviewing previous reports of deletion 11q, we found that cleft lip and palate are most...

  15. Non-invasive prenatal testing for trisomies 21, 18 and 13

    DEFF Research Database (Denmark)

    Zhang, H.; Gao, Y.; Jiang, F.

    2015-01-01

    OBJECTIVES: To report the clinical performance of massively parallel sequencing-based non-invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13 in over 140 000 clinical samples and to compare its performance in low-risk and high-risk pregnancies. METHODS: Between 1 January 2012...... samples, for which outcome data were available in 112 669 (76.7%). Repeat blood sampling was required in 3213 cases and 145 had test failure. Aneuploidy was confirmed in 720/781 cases positive for trisomy 21, 167/218 cases positive for trisomy 18 and 22/67 cases positive for trisomy 13 on NIPT. Nine false...... difference in test performance between the 72 382 high-risk and 40 287 low-risk subjects (sensitivity, 99.21% vs 98.97% (P = 0.82); specificity, 99.95% vs 99.95% (P = 0.98)). The major factors contributing to false-positive and false-negative NIPT results were maternal copy number variant and fetal...

  16. Mouse trisomy 16: An animal model of human trisomy 21 (Down syndrome)

    International Nuclear Information System (INIS)

    Epstein, C.J.; Cox, D.R.; Epstein, L.B.

    1985-01-01

    One of the principal difficulties in studying human disorders of development, particularly if the nervous system is involved, is our inability for both technical and ethical reasons to study more than a very restricted number of tissues and developmental processes. The developing human fetus is inaccessible to any type of systematic study, and the brain can only be approached postmortem or, during life, by a limited number of noninvasive techniques. Whereas the latter methods, particularly positron emission tomography and nuclear magnetic resonance spectroscopy, are beginning to be applied to the study of central nervous system metabolism, their view of the details of nervous system function is still limited. Therefore, to study the mechanisms underlying the development of abnormalities associated with a condition such as trisomy 21, abnormalities both of prenatal somatic and neurologic development, and probably neurologic development and function as well, it is necessary to have experimental systems that lend themselves to convenient analysis. To accomplish this the authors sought to develop an animal model for human trisomy 21 and its phenotypic representation, Down syndrome

  17. Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?

    Science.gov (United States)

    Saumell, Sílvia; Solé, Francesc; Arenillas, Leonor; Montoro, Julia; Valcárcel, David; Pedro, Carme; Sanzo, Carmen; Luño, Elisa; Giménez, Teresa; Arnan, Montserrat; Pomares, Helena; De Paz, Raquel; Arrizabalaga, Beatriz; Jerez, Andrés; Martínez, Ana B; Sánchez-Castro, Judith; Rodríguez-Gambarte, Juan D; Raya, José M; Ríos, Eduardo; Rodríguez-Rivera, María; Espinet, Blanca; Florensa, Lourdes

    2015-01-01

    Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism (cT8M). We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myeloid neoplasms carrying +8 were studied. Trisomy 8 was determined in peripheral blood by conventional cytogenetics (CC) and on granulocytes, CD3+ lymphocytes and oral mucosa cells by fluorescence in situ hybridization (FISH). In peripheral blood CC, +8 was seen in 4/32 patients. By FISH, only one patient with chronic myelomonocytic leukemia showed +8 in all cell samples and was interpreted as a cT8M. In our series +8 was acquired in all MDS. Probably, once discarded cT8M by FISH from CD3+ lymphocytes and non-hematological cells, +8 should be considered with enough evidence to MDS.

  18. Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?

    Directory of Open Access Journals (Sweden)

    Sílvia Saumell

    Full Text Available Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8 can be found as a constitutional mosaicism (cT8M. We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myeloid neoplasms carrying +8 were studied. Trisomy 8 was determined in peripheral blood by conventional cytogenetics (CC and on granulocytes, CD3+ lymphocytes and oral mucosa cells by fluorescence in situ hybridization (FISH. In peripheral blood CC, +8 was seen in 4/32 patients. By FISH, only one patient with chronic myelomonocytic leukemia showed +8 in all cell samples and was interpreted as a cT8M. In our series +8 was acquired in all MDS. Probably, once discarded cT8M by FISH from CD3+ lymphocytes and non-hematological cells, +8 should be considered with enough evidence to MDS.

  19. Variation of Ultrasound Findings in the First Trimester Examination of Recurrent Cases With Trisomy 21

    Science.gov (United States)

    Daniilidis, Aggelos; Balaouras, Dimitrios; Chitzios, Dimitrios; Balaouras, Georgios; Capilna, Mihai; Asimakopoulos, Efstratios

    2015-01-01

    Increased nuchal translucency (NT) is present in about 50% of cases with trisomy 21. Very often the nuchal edema evolves in hydrops fetalis until the second trimester. Furthermore, a small amount of cases with a normal NT and trisomy 21 exhibit anatomical anomalies. We present a case of a 21-year-old woman, nulliparous, with a history of one termination of pregnancy and a smoking quitter. The prenatal control was negative for TORCH. During the first trimester scan on the 13th week, the NT was found 2.7 mm, the ductus venosus Doppler was normal, and the nasal bone was present. Hydrops fetalis was present though, and the parents were advised for chorionic villus sampling (CVS), but they opted for termination of pregnancy. The molecular control by QF-PCR showed normal karyotype for 13 and 18, a male fetus, but non-dysjunction trisomy 21 was present. Parental karyotype was advised, but they refused to perform it. One year later, the couple had another pregnancy. On the 12th week scan, the NT was found 1.0 mm, the ductus venosus Doppler was normal, and the nasal bone was present, but encephalocele was also found, and the parents consented again for termination of pregnancy. The new molecular control showed the same results. This time parental karyotype was performed. The father had a normal one, whereas the mother showed reversed p11 and q13 zones in chromosome 2. Genetical consulting and prenatal cytological control was advised in before next pregnancy. PMID:25883716

  20. Q3/Q4 2016 Solar Industry Update

    Energy Technology Data Exchange (ETDEWEB)

    Feldman, David; Boff, Daniel; Margolis, Robert

    2016-12-21

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

  1. Q3/Q4 2017 Solar Industry Update

    Energy Technology Data Exchange (ETDEWEB)

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

    2018-02-15

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

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

    Directory of Open Access Journals (Sweden)

    Hye Ran Kim

    2011-06-01

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

  3. An unusual case of Trisomy 13 | Feben | South African Journal of ...

    African Journals Online (AJOL)

    Trisomy 13 is a common chromosome abnormality with a recognisable clinical phenotype, which should prompt its early diagnosis. This case report describes a patient with Trisomy 13 with unusual limb malformations and expands on the clinical phenotype of the disorder.

  4. Prospective validation of first-trimester combined screening for trisomy 21.

    Science.gov (United States)

    Kagan, K O; Etchegaray, A; Zhou, Y; Wright, D; Nicolaides, K H

    2009-07-01

    To examine the performance of the new algorithm in screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). This was a prospective screening study for trisomy 21 in singleton pregnancies at 11 + 0 to 13 + 6 weeks of gestation using an algorithm combining maternal age, fetal NT thickness based on the mixture model for the assessment of NT, and maternal serum free beta-hCG and PAPP-A based on a multiple regression model for the assessment of serum biochemistry. The NT measurements were performed by 60 operators who had obtained The Fetal Medicine Foundation certificate of competence in the 11-13-week scan. The study population consisted of 19 614 pregnancies with a normal karyotype or delivery of a phenotypically normal baby (euploid group) and 122 cases of trisomy 21. In the euploid fetuses the NT was above the previously defined 50(th), 95(th) and 99(th) centiles in 10 033 (51.2%), 618 (3.2%) and 123 (0.6%) cases and the respective values for trisomy 21 were 117 (95.9%), 94 (77.0%) and 57 (46.7%). The median fetal NT was within 0.1 mm of the expected in 47 (78.3%) of the 60 sonographers and within 0.2 mm in all. In the euploid fetuses the median free beta-hCG was 1.0 (range, 0.1-29.4) multiples of the median (MoM) and the median PAPP-A was 1.0 (range, 0.2-3.3) MoM. The median MoM values were 1.0 or close to 1.0 MoM for each subgroup of pregnancy characteristics, including gestations of 11, 12 and 13 weeks, maternal weight of 80 kg, different ethnic origins, cigarette smokers and non-smokers, natural conception and in vitro fertilization. For a false-positive rate of 3%, the detection rate of trisomy 21 in screening by maternal age and fetal NT was 81% (95% CI, 73-89%), by maternal age and maternal serum biochemistry it was 63% (95% CI, 56-72%) and by combined screening based on maternal age, fetal NT and maternal

  5. Cultural stereotyping of the lady in 4Q184 and 4Q185

    Directory of Open Access Journals (Sweden)

    Ananda Geyser-Fouché

    2016-10-01

    Full Text Available Wisdom and wickedness as a ‘Woman’ have always attracted much discussion, especially in the ways images of the female are employed in wisdom literature. This article focuses on two Qumran texts that fall into the category of wisdom literature, namely 4Q184 and 4Q185, and the metaphorical appropriation of the woman as a figure of wisdom or a figure of wickedness. By combining a number of traditions in certain forms, sages tried to establish an education for their learners on how to obtain wisdom with the ultimate purpose of creating harmony. The ultimate purpose of the wisdom teachings of the sages was to confirm the harmony in the universe, and these teachings were also conveyed to their learners. In their instructions, they often employed binary opposites such as ‘wise’ and ‘fool’ according to which someone was characterised, or rather stereotyped. The result of such binary stereotyping was that the ‘whore’ and the ‘holy one’ represented opposite poles, and became fixed images in Judaism. According to feminist exegetes, these images typify the concept of cultural stereotyping. This article aims to illustrate that two Qumran texts, 4Q184 and 4Q185, regarded as wisdom texts, employ the female stereotypes that were known in the wisdom literature of Judaism.

  6. Cultural stereotyping of the lady in 4Q184 and 4Q185

    Directory of Open Access Journals (Sweden)

    Ananda Geyser-Fouché

    2016-05-01

    Full Text Available Wisdom and wickedness as a ‘Woman’ have always attracted much discussion, especially in the ways images of the female are employed in wisdom literature. This article focuses on two Qumran texts that fall into the category of wisdom literature, namely 4Q184 and 4Q185, and the metaphorical appropriation of the woman as a figure of wisdom or a figure of wickedness. By combining a number of traditions in certain forms, sages tried to establish an education for their learners on how to obtain wisdom with the ultimate purpose of creating harmony. The ultimate purpose of the wisdom teachings of the sages was to confirm the harmony in the universe, and these teachings were also conveyed to their learners. In their instructions, they often employed binary opposites such as ‘wise’ and ‘fool’ according to which someone was characterised, or rather stereotyped. The result of such binary stereotyping was that the ‘whore’ and the ‘holy one’ represented opposite poles, and became fixed images in Judaism. According to feminist exegetes, these images typify the concept of cultural stereotyping. This article aims to illustrate that two Qumran texts, 4Q184 and 4Q185, regarded as wisdom texts, employ the female stereotypes that were known in the wisdom literature of Judaism.

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

    Science.gov (United States)

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

    2016-11-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

  9. Limpieza de patrones φ,q,n de descargas parciales; Denoising of partial discharge φ,q,n patterns

    Directory of Open Access Journals (Sweden)

    Santiago Alfredo Dorrbercker Drake

    2015-04-01

    Full Text Available La medición de descargas parciales (DP se sustenta en la detección y filtraje de pulsos de corriente que aparecen en una banda de frecuencia que abarca desde los kilohertzios hasta los gigahertzios, por tal motivo los detectores de descargas parciales (DDP poseen sistemas para desagregar dichos pulsos de corriente. Sin embargo, los DDP también permiten el paso de otras señales de alta frecuencia (ruidos que se mezclan con los pulsos de DP y afectan la medición, interpretación y caracterización de las DP. Para atenuar ese efecto, se han desarrollado distintas técnicas para separar los ruidos tanto asociados a las señales como los existentes en los patrones φ,q,n.  En este artículo se presentan los resultados obtenidos en la reducción de los ruidos asociados a la conmutación de tiristores y los ruidos esporádicos, de los patrones φ,q,n mediante el empleo de técnicas de procesamiento de imágenes digitales. The measurement of partial (PD discharges is sustained in the detection and filtration of current pulses which appear in a band of frequency that include from the kilohertz until the gigahertzios, for such a reason the detectors of partial (PDD discharges they possess systems for the separation of this current pulses. However, PDD also allows the step of other signals of high frequency, denominated noises, that mix with the pulses of PD and they affect measurement, interpretation and characterization of PD. To attenuate that effect, different techniques have been developed to separate the noises so much associated to the signs like the existent ones in the φ,q,n patterns. In this paper are presented the results obtained in the noise reduction of the noises associated to the thyristor’s commutation and the sporadic noises, in the φ,q,n patterns by means of the technical of digital images processing

  10. Comparison of brain imaging and neuropathology in cases of trisomy 18 and 13

    International Nuclear Information System (INIS)

    Inagaki, M.; Tottori Prefectural Central Hospital; Ando, Y.; Mito, T.; Ieshima, A.; Takashima, S.; Takeshita, K.; Ohtani, K.

    1987-01-01

    A comparative study of intracranial imaging and brain pathology in cases of trisomy 18 and 13 was performed. Computed tomography (CT) and ultrasonography (US) revealed disproportional dilatation of the lateral ventricles, a wide Sylvian fissure and a large extracerebellar space with a small cerebellum in each case. In addition, it was characteristic that the occipital poles of the cerebrum protruded in the infero-posterior direction in trisomy 18, and the pontine basis was relatively wide in trisomy 13. The brain pathology in trisomy 18 and 13 demonstrated that the large extracerebellar space is due to the cerebellar dysplasia and protruding occipital poles, the wide Sylvian fissures due to the temporal lobes or external capsular dysplasia, and the relatively wide pontine basis due to meningeal glioneuronal heterotopia. Thus, the characteristic intracranial image in trisomy 18 and 13 suggests microdysgenesis of the brain and might be useful for understanding the pathological structure of the central nervous system in these conditions. (orig.)

  11. Replacing Alpha-Fetoprotein With Alpha-Fetoprotein-L3 Increases the Sensitivity of Prenatal Screening for Trisomy 21.

    Science.gov (United States)

    Huai, Lei; Leng, Jianhang; Ma, Shenglin; Huang, Fang; Shen, Junya; Ding, Yu

    This study aimed to investigate the serum concentration of alpha-fetoprotein (AFP)-L3 in midterm pregnancies and its potential application in prenatal trisomy screening. The serum samples from 27 women with trisomy 21 fetuses and 800 women with normal fetuses were examined to measure the concentrations of AFP, AFP-L3, human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A. The screening results of various tests consisting of these markers were analyzed. In normal pregnancies within 15-20 weeks of gestation, the medians of serum AFP-L3 were 4.63, 5.70, 5.78, 6.58, 7.03, and 7.25 pg/mL. The median of AFP-L3 MoM in the trisomy 21 group was 0.46, which was significantly lower than the value of 1 in the normal group (P < 0.05). When using a cutoff value of 1/270, the sensitivity of the triple marker test (AFP, hCG, uE3) was improved from 74% to 81% by replacing AFP with AFP-L3, with the false-positive rate slightly increased from 5.4% to 6.8%. Similarly, the sensitivity of the quad marker test (AFP, hCG, uE3, inhibin-A) was improved from 81% to 89% by replacing AFP with AFP-L3, with the false-positive rate slightly increased from 4.6% to 5.6%. Serum AFP-L3 concentration increases along with more weeks of gestation in the midterm pregnancies. Trisomy 21 screening tests with AFP replaced by AFP-L3 have higher sensitivities at the expense of slightly increased false-positive rates. This improvement in screening may help to better prepare the parents and caregivers for the special needs of newborns with trisomy 21.

  12. Prospective audit of a one-centre combined nuchal translucency and triple test programme for the detection of trisomy 21.

    Science.gov (United States)

    Babbur, Vijayalakshmi; Lees, Christoph C; Goodburn, Sandra F; Morris, Nigel; Breeze, Andrew C G; Hackett, Gerald A

    2005-06-01

    To determine detection and false-positive rates for trisomy 21 using two-stage combined nuchal translucency (NT) and triple testing, whilst disclosing abnormal nuchal measurements at the scan. A prospective audit in a UK women's hospital, of 3188 women with singleton pregnancies, requesting screening for trisomy 21. Median age was 37 years (range 19-46). Women were offered NT screening at 11 to 14 weeks. Those with NT > or =3 mm were offered chorionic villus sampling. Those declining CVS, and those with NT risk of trisomy 21 > or = 1:250, based on age, NT, and triple test results were offered amniocentesis. Using a 3-mm NT 'cut-off' identified 16/25 cases of trisomy 21 (64%; 95% CI 38.8, 78.9). Of 2725 women who had a combined nuchal plus triple test assessment, 79 (2.6%) had a > or = 1:250 term risk of trisomy 21. Forty (1.3%) had amniocentesis identifying 6/9 remaining cases (67%:95% CI:27.9, 92.5). Overall, the detection rate was 88% (95% CI:68.8, 97.5) for a 4.8% FPR. For the screened population, to achieve an 88% detection rate using the triple test alone, the predicted FPR would be 20%. Conversely, for an FPR of 4.8% using the triple test alone, the detection rate would be only 60%. In a high-risk group, the combination of NT with triple test offers detection of trisomy 21 at least equivalent to either test, while allowing disclosure of an abnormal NT at the scan and reducing the FPR. Importantly, the FPR is less than 5%, considerably lower than expected for triple test alone for this population.

  13. Coenzyme Q10 partially restores pathological alterations in a macrophage model of Gaucher disease.

    Science.gov (United States)

    de la Mata, Mario; Cotán, David; Oropesa-Ávila, Manuel; Villanueva-Paz, Marina; de Lavera, Isabel; Álvarez-Córdoba, Mónica; Luzón-Hidalgo, Raquel; Suárez-Rivero, Juan M; Tiscornia, Gustavo; Sánchez-Alcázar, José A

    2017-02-06

    Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal β-glucocerebrosidase (GCase). In GD, partial or complete loss of GCase activity causes the accumulation of the glycolipids glucosylceramide (GlcCer) and glucosylsphingosine in the lysosomes of macrophages. In this manuscript, we investigated the effects of glycolipids accumulation on lysosomal and mitochondrial function, inflammasome activation and efferocytosis capacity in a THP-1 macrophage model of Gaucher disease. In addition, the beneficial effects of coenzyme Q 10 (CoQ) supplementation on cellular alterations were evaluated. Chemically-induced Gaucher macrophages were developed by differentiateing THP-1 monocytes to macrophages by treatment with phorbol 12-myristate 13-acetate (PMA) and then inhibiting intracellular GCase with conduritol B-epoxide (CBE), a specific irreversible inhibitor of GCase activity, and supplementing the medium with exogenous GlcCer. This cell model accumulated up to 16-fold more GlcCer compared with control THP-1 cells. Chemically-induced Gaucher macrophages showed impaired autophagy flux associated with mitochondrial dysfunction and increased oxidative stress, inflammasome activation and impaired efferocytosis. All abnormalities were partially restored by supplementation with CoQ. These data suggest that targeting mitochondria function and oxidative stress by CoQ can ameliorate the pathological phenotype of Gaucher cells. Chemically-induced Gaucher macrophages provide cellular models that can be used to investigate disease pathogenesis and explore new therapeutics for GD.

  14. Q4 2017/Q1 2018 Solar Industry Update

    Energy Technology Data Exchange (ETDEWEB)

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

    2018-05-16

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

  16. De novo case of a partial trisomy 4p and a partial monosomy 8p.

    Science.gov (United States)

    Skrlec, Ivana; Wagner, Jasenka; Pubeljić, Silvija; Heffer, Marija; Stipoljev, Feodora

    2014-03-01

    The extent of clinical expression in cases of segmental aneuploidy often varies depending on the size of the chromosomal region involved. Here we present clinical and cytogenetic findings in a 5-month old boy with a duplication of a chromosomal segment 4p16.1-->4pter and a deletion of a chromosomal segment 8p23.1-->8pter. His karyotype was determined by applying classical GTG banding and FISH method (WHCR region, centromere 4, centromere 8, telomere 8p) as 46,XY,der(8)t(4;8)(p16.1;p23.1).ish der(8)t(4;8)(D8S504-,WHCR+,D8Z2+)dn. Parents are not related and have normal karyotypes, indicating de novo origin. We have compared similarity of the clinical features in our proband to other patients carrying only a duplication of the distal part of 4p or a deletion of distal part of 8p or similar combination described in the literature.

  17. Trisomy of the Dscr1 gene suppresses early progression of pancreatic intraepithelial neoplasia driven by oncogenic Kras

    International Nuclear Information System (INIS)

    Lee, Jang Choon; Shin, Jimin; Baek, Kwan-Hyuck

    2013-01-01

    Highlights: •A single extra copy of Dscr1 restrains progression of PanIN-1A to PanIN-1B lesions. •Dscr1 trisomy attenuates calcineurin–NFAT pathway in neoplastic ductal epithelium. •Dscr1 trisomy leads to upregulation of p15 INK4b in neoplastic ductal epithelium. •A single extra copy of Dscr1 reduces epithelial proliferation in early PanIN lesions. •Dscr1 trisomy may protect Down syndrome individuals from pancreatic cancer. -- Abstract: Individuals with Down syndrome exhibit remarkably reduced incidence of most solid tumors including pancreatic cancer. Multiple mechanisms arising from the genetic complexity underlying Down syndrome has been suggested to contribute to such a broad cancer protection. In this study, utilizing a genetically engineered mouse model of pancreatic cancer, we demonstrate that trisomy of the Down syndrome critical region-1 (Dscr1), an endogenous calcineurin inhibitor localized on chromosome 21, suppresses the progression of pancreatic intraepithelial neoplasia-1A (PanIN-1A) to PanIN-1B lesions without affecting the initiation of PanIN lesions mediated by oncogenic Kras G12D . In addition, we show that Dscr1 trisomy attenuates nuclear localization of nuclear factor of activated T-cells (NFAT) accompanied by upregulation of the p15 Ink4b tumor suppressor and reduction of cell proliferation in early PanIN lesions. Our data suggest that attenuation of calcineurin–NFAT signaling in neoplastic pancreatic ductal epithelium by a single extra copy of Dscr1 is sufficient to inhibit the progression of early PanIN lesions driven by oncogenic Kras, and thus may be a potential mechanism underlying reduced incidence of pancreatic cancer in Down syndrome individuals

  18. Trisomy 10 in acute myeloid leukemia: three new cases.

    Science.gov (United States)

    Llewellyn, I E; Morris, C M; Stanworth, S; Heaton, D C; Spearing, R L

    2000-04-15

    Trisomy 10 is a rare nonrandom cytogenetic abnormality found in association with acute myeloid leukemia (AML). The hematological and clinical features associated with this finding have not yet been clearly defined. A literature review revealed 13 cases of trisomy 10 in AML, some reported as a minority component of a more comprehensive AML study and therefore lacking a full description of both clinical and hematological features. We present a summary of these reports and add three new cases to the literature.

  19. qPR: An adaptive partial-report procedure based on Bayesian inference.

    Science.gov (United States)

    Baek, Jongsoo; Lesmes, Luis Andres; Lu, Zhong-Lin

    2016-08-01

    Iconic memory is best assessed with the partial report procedure in which an array of letters appears briefly on the screen and a poststimulus cue directs the observer to report the identity of the cued letter(s). Typically, 6-8 cue delays or 600-800 trials are tested to measure the iconic memory decay function. Here we develop a quick partial report, or qPR, procedure based on a Bayesian adaptive framework to estimate the iconic memory decay function with much reduced testing time. The iconic memory decay function is characterized by an exponential function and a joint probability distribution of its three parameters. Starting with a prior of the parameters, the method selects the stimulus to maximize the expected information gain in the next test trial. It then updates the posterior probability distribution of the parameters based on the observer's response using Bayesian inference. The procedure is reiterated until either the total number of trials or the precision of the parameter estimates reaches a certain criterion. Simulation studies showed that only 100 trials were necessary to reach an average absolute bias of 0.026 and a precision of 0.070 (both in terms of probability correct). A psychophysical validation experiment showed that estimates of the iconic memory decay function obtained with 100 qPR trials exhibited good precision (the half width of the 68.2% credible interval = 0.055) and excellent agreement with those obtained with 1,600 trials of the conventional method of constant stimuli procedure (RMSE = 0.063). Quick partial-report relieves the data collection burden in characterizing iconic memory and makes it possible to assess iconic memory in clinical populations.

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

    Science.gov (United States)

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

    2000-03-13

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

  1. Trisomy of the Dscr1 gene suppresses early progression of pancreatic intraepithelial neoplasia driven by oncogenic Kras

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jang Choon; Shin, Jimin; Baek, Kwan-Hyuck, E-mail: khbaek@skku.edu

    2013-10-11

    Highlights: •A single extra copy of Dscr1 restrains progression of PanIN-1A to PanIN-1B lesions. •Dscr1 trisomy attenuates calcineurin–NFAT pathway in neoplastic ductal epithelium. •Dscr1 trisomy leads to upregulation of p15{sup INK4b} in neoplastic ductal epithelium. •A single extra copy of Dscr1 reduces epithelial proliferation in early PanIN lesions. •Dscr1 trisomy may protect Down syndrome individuals from pancreatic cancer. -- Abstract: Individuals with Down syndrome exhibit remarkably reduced incidence of most solid tumors including pancreatic cancer. Multiple mechanisms arising from the genetic complexity underlying Down syndrome has been suggested to contribute to such a broad cancer protection. In this study, utilizing a genetically engineered mouse model of pancreatic cancer, we demonstrate that trisomy of the Down syndrome critical region-1 (Dscr1), an endogenous calcineurin inhibitor localized on chromosome 21, suppresses the progression of pancreatic intraepithelial neoplasia-1A (PanIN-1A) to PanIN-1B lesions without affecting the initiation of PanIN lesions mediated by oncogenic Kras{sup G12D}. In addition, we show that Dscr1 trisomy attenuates nuclear localization of nuclear factor of activated T-cells (NFAT) accompanied by upregulation of the p15{sup Ink4b} tumor suppressor and reduction of cell proliferation in early PanIN lesions. Our data suggest that attenuation of calcineurin–NFAT signaling in neoplastic pancreatic ductal epithelium by a single extra copy of Dscr1 is sufficient to inhibit the progression of early PanIN lesions driven by oncogenic Kras, and thus may be a potential mechanism underlying reduced incidence of pancreatic cancer in Down syndrome individuals.

  2. Tetralogy of fallot in down syndrome (trisomy 21) - an uncommon association

    International Nuclear Information System (INIS)

    Rashid, A.K.M.M.; Basu, B.; Rahman, M.M.

    2009-01-01

    Down Syndrome (trisomy 21) is the common disorder among chromosomal anomalies. This is frequently associated with congenital a cyanotic heart disease. Tetralogy of fallot is an uncommon event in the trisomy 21. Tetralogy of fallot presents with cyanosis usually in the later part of infancy, but cyanosis is present since birth if Tetralogy of Fallot is accompanied with Down Syndrome. (author)

  3. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

    Energy Technology Data Exchange (ETDEWEB)

    Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. (Univ. of Arizona College of Medicine, Tucson, AZ (United States)); Magnuson, L.; Thomas, E.; Herrmann, J. (Great Lakes Genetics, Milwaukee, AZ (United States)); Gendron, R. (Great Lakes Genetics, Kingsport, TN (United States))

    1992-10-01

    Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

  4. A randomized and blinded comparison of qPCR and NGS-based detection of aneuploidy in a cell line mixture model of blastocyst biopsy mosaicism.

    Science.gov (United States)

    Goodrich, David; Tao, Xin; Bohrer, Chelsea; Lonczak, Agnieszka; Xing, Tongji; Zimmerman, Rebekah; Zhan, Yiping; Scott, Richard T; Treff, Nathan R

    2016-11-01

    A subset of preimplantation stage embryos may possess mosaicism of chromosomal constitution, representing a possible limitation to the clinical predictive value of comprehensive chromosome screening (CCS) from a single biopsy. However, contemporary methods of CCS may be capable of predicting mosaicism in the blastocyst by detecting intermediate levels of aneuploidy within a trophectoderm biopsy. This study evaluates the sensitivity and specificity of aneuploidy detection by two CCS platforms using a cell line mixture model of a mosaic trophectoderm biopsy. Four cell lines with known karyotypes were obtained and mixed together at specific ratios of six total cells (0:6, 1:5, 2:4, 3:3, 4:2, 5:1, and 6:0). A female euploid and a male trisomy 18 cell line were used for one set, and a male trisomy 13 and a male trisomy 15 cell line were used for another. Replicates of each mixture were prepared, randomized, and blinded for analysis by one of two CCS platforms (quantitative polymerase chain reaction (qPCR) or VeriSeq next-generation sequencing (NGS)). Sensitivity and specificity of aneuploidy detection at each level of mosaicism was determined and compared between platforms. With the default settings for each platform, the sensitivity of qPCR and NGS were not statistically different, and 100 % specificity was observed (no false positives) at all levels of mosaicism. However, the use of previously published custom criteria for NGS increased sensitivity but also significantly decreased specificity (33 % false-positive prediction of aneuploidy). By demonstrating increased false-positive diagnoses when reducing the stringency of predicting an abnormality, these data illustrate the importance of preclinical evaluation of new testing paradigms before clinical implementation.

  5. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

    Energy Technology Data Exchange (ETDEWEB)

    Milunsky, J.M. [Boston Univ. School Med, MA (United States)]|[Tufts-New England Med. Ctr, Boston, MA (United States); Wyandt, H.E.; Amos, J.A. [Boston Univ. School Med., MA (United States)] [and others

    1994-09-01

    We describe a liveborn infant with UPD in association with trisomy 15 mosaicism. Third trimester amniocentesis was performed for suspected IUGR. Results revealed 46,XX/47,XX,+15. The infant initially had respiratory distress and fed poorly. Symmetrical growth retardation, craniofacial dysmorphism, excess nuchal folds, a heart murmur, hypermobile joints, minor limb abnormalities, absent spontaneous movement and an abnormal cry were noted. Further study showed complex heart defects, including VSD and PDA, a left choroid plexus cyst, 13 ribs bilaterally, abnormal optic discs, abnormal visual evoked potentials and abnormal auditory brain stem responses. The infant died at 6 weeks of life from cardio-respiratory complications. Blood chromosomes were normal, 46,XX in 100 cells. Parental blood chromosomes were normal. Skin biopsy revealed 46,XX/47,XX,+15 in 40/50 (80%) cells as did autopsy lung tissue. Molecular analysis of the infant`s blood revealed maternal uniparental heterodisomy for chromosome 15 in the 46,XX cell line. Microsatellite analysis demonstrated that the extra chromosome originated from a maternal meiosis I nondisjunction. To our knowledge, this is the first liveborn infant with mosaic trisomy 15 and UPD in the diploid cells. Trisomy 15, heretofore, has been regarded as nonviable, even in mosaic form. While maternal UPD is associated with the Prader-Willi syndrome phenotype, mosaicism for trisomy 15 has been reported only when confined to the placenta. UPD in this case generally complicated prediction of the phenotype and raises the question whether all cases with UPD 15 should have more than one tissue studied to determine undetected trisomy 15.

  6. Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Wolldridge, J.; Zuncih, J. [Indiana University School of Medicine, Gary, IN (United States)

    1995-04-10

    We report on a 6-year-old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant presented with apparently low-set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high-arched palate, micrognathia, bilateral dislocated hips, left genu recurvatum, and cryptorchidism. Chromosome analysis showed an unusual karyotype: 47,XY,+inv(9qh+)/47,XY,+mar. The marker chromosome was thought to be a remnant of the inv (9qh+), while the father`s was 46,XY. At age 5 months, the patient developed seizures and gastroesophageal reflux. Crohn disease was diagnosed at age 2 years, although symptoms began at age 1 year. Recurrent bouts of pneumonia have occurred since the patient`s birth. Severe psychomotor retardation was also noted. Trisomy 9 syndrome was first reported in 1973. Over 30 cases have been reported since then. Of these case reports, only 5 patients were older than 1 year. Inflammatory bowel disease has been reported in association with other chromosome abnormalities, but to our knowledge, has not been reported in trisomy 9 syndrome. 39 refs., 4 figs., 2 tabs.

  7. Alobar holoprosencephaly and Trisomy 13 (Patau syndrome

    Directory of Open Access Journals (Sweden)

    Andressa Dias Costa

    2013-06-01

    Full Text Available Holoprosencephaly (HPE is a congenital defect of the brain, median structures, and face resulting from an incomplete cleavage of the primitive brain during early embryogenesis. The authors report a case of trisomy 13 syndrome diagnosed at prenatal follow up. The preterm newborn lived only 5 hours, and died because of severe respiratory failure. The autopsy findings disclosed facial, skull, limbs, cardiac, and cerebral malformations. Among the latter, the presence of alobar HPE, the central theme of this report, was evident. The most common nonrandom chromosomal abnormality in patients with HPE is trisomy 13. The most severe variant, namely alobar HPE, is shown in this case report. Discussion on this severe anomaly, along with the case report with details of Patau’s syndrome, is the goal of this report.

  8. An unusual case of Trisomy 13

    African Journals Online (AJOL)

    Trisomy 13 (Patau syndrome) is a well-recognised, multiple congenital anomaly syndrome, characterised by the cardinal triad of orofacial clefts, microphthalmia and postaxial polydactyly of the limbs. With an estimated worldwide live- born prevalence (after the advent of prenatal diagnosis) of 1/10 000, it is an important.

  9. Complete genomic sequences for hepatitis C virus subtypes 4b, 4c, 4d, 4g, 4k, 4l, 4m, 4n, 4o, 4p, 4q, 4r and 4t.

    Science.gov (United States)

    Li, Chunhua; Lu, Ling; Wu, Xianghong; Wang, Chuanxi; Bennett, Phil; Lu, Teng; Murphy, Donald

    2009-08-01

    In this study, we characterized the full-length genomic sequences of 13 distinct hepatitis C virus (HCV) genotype 4 isolates/subtypes: QC264/4b, QC381/4c, QC382/4d, QC193/4g, QC383/4k, QC274/4l, QC249/4m, QC97/4n, QC93/4o, QC139/4p, QC262/4q, QC384/4r and QC155/4t. These were amplified, using RT-PCR, from the sera of patients now residing in Canada, 11 of which were African immigrants. The resulting genomes varied between 9421 and 9475 nt in length and each contains a single ORF of 9018-9069 nt. The sequences showed nucleotide similarities of 77.3-84.3 % in comparison with subtypes 4a (GenBank accession no. Y11604) and 4f (EF589160) and 70.6-72.8 % in comparison with genotype 1 (M62321/1a, M58335/1b, D14853/1c, and 1?/AJ851228) reference sequences. These similarities were often higher than those currently defined by HCV classification criteria for subtype (75.0-80.0 %) and genotype (67.0-70.0 %) division, respectively. Further analyses of the complete and partial E1 and partial NS5B sequences confirmed these 13 'provisionally assigned subtypes'.

  10. Trisomy 19 and T(9;22 In a Patient with Acute Basophilic Leukemia

    Directory of Open Access Journals (Sweden)

    Alicia Rojas-Atencio

    2011-01-01

    Full Text Available We report a case of acute basophilic leukemia with two coexisting clonal abnormalities, t(9;22 and trisomy 19. The blast showed positive reaction with myeloperoxidase but negative reaction with chloroacetate esterase and acid phosphatase. Metachromatic features of the blast were observed with toluidine blue stain. Ultrastructure study showed the presence of azurophilic granules in basophils and blast mast cells. Conventional and molecular cytogenetic studies revealed, t(9;22 with BCR/ABL positive and trisomy 19 in all metaphase cells. To our knowledge, this paper here is the first to present acute basophilic leukemia with trisomy 19 and t(9;22.

  11. No significant effect of monosomy for distal 21q22. 3 on the Down syndrom phenotype in mirror' duplications of chromosome 21

    Energy Technology Data Exchange (ETDEWEB)

    Pangalos, C.; Prieur, M.; Rethore, M.O.; Lejeune, J. (Institut de Progenese, Paris (France)); Theophile, D.; Sinet, P.M.; Chettouh, Z.; Delabar, J.M. (Hopital Necker Enfants Malades, Paris (France)); Marks, A. (Univ. of Toronto, Ontario (Canada)); Stamboulieh-Abazis, D. (Diagnostic Genetic Center, Athens (Greece)); Verellen, C. (Centre de Genetique Humaine, Brussels (Belgium))

    1992-12-01

    Three Down syndrome patients for whom karyotypic analysis showed a mirror' (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently less than twice the size of the normal 21q22.3, suggesting a partial deletion of distal 21q. The evaluation of eight chromosome 21 single-copy sequences of the 21q22 region - namely, SOD1, D21S15, D21S42, CRYA1, PFKL, CD18, COL6A1, and S100B - by a slot blot method showed in all three cases a partial deletion of 21q22.3 and partial monosomy. The translocation breakpoints were different in each patient, and in two cases the rearranged chromosome was found to be asymmetrical. The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. DNA polymorphism analysis indicated in all cases a homozygosity of the duplicated material. The duplicated region was maternal in two patients and paternal in one patient. These data suggest that the reverse tandem chromosomes did not result from a telomeric fusion between chromosomes 21 but from a translocation between sister chromatids. The phenotypes of these patients did not differ significantly from that of individuals with full trisomy 21, except in one case with large ears with an unfolded helix. The fact that monosomy of distal 21q22.3 in these patients resulted in a phenotype very similar to Down syndrome suggests that the duplication of the genes located in this part of chromosome 21 is not necessary for the pathogenesis of the Down syndrome features observed in these patients, including most of the facial and hand features, muscular hypotonia, cardiopathy of the Fallot tetralogy type, and part of the mental retardation. 54 refs., 5 figs., 3 tabs.

  12. Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

    Directory of Open Access Journals (Sweden)

    Gekas J

    2014-07-01

    Full Text Available Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David-Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,71Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Laval University, Québec City, Quebec, Canada; 2Department of Medical Biology, Centre Hospitalier Universitaire de Québec, Québec City, Quebec, Canada; 3Department of Medical Genetics, University of British Columbia, Vancouver, Canada; 4Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, Canada; 5Department of Obstetrics and Gynecology, Sainte Justine Hospital, Montreal, Canada; 6Department of Social and Preventive Medicine, 7Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec City, Quebec, CanadaAbstract: Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21] generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype, which is associated with a risk of fetal miscarriage. Recently, genomics-based NIPT (gNIPT was proposed for the analysis of fetal genomic DNA circulating in maternal blood. The diffusion of this technology in routine prenatal care could be a major breakthrough in prenatal diagnosis, since initial research studies suggest that this novel approach could be very effective and could reduce substantially the number of invasive procedures. However, the limitations of gNIPT may be underappreciated. In this review, we examine currently published literature on gNIPT to highlight advantages and limitations. At this time, the performance of gNIPT is relatively well-documented only in high-risk pregnancies for T21 and trisomy 18. This additional screening test may be an

  13. First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.

    Science.gov (United States)

    Wagner, P; Sonek, J; Hoopmann, M; Abele, H; Kagan, K O

    2016-10-01

    To examine the performance of first-trimester ultrasound screening for trisomies 18 and 13, triploidy and Turner syndrome based on fetal nuchal translucency thickness (NT), additional fetal ultrasound markers including anatomy of the nasal bone (NB), blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) and a detailed fetal anomaly scan at 11-13 weeks' gestation. This was a retrospective case-matched study involving pregnant women at 11-13 weeks' gestation. The study population consisted of fetuses with trisomy 18, trisomy 13, triploidy or Turner syndrome. For each fetus with an abnormal karyotype, 50 randomly selected euploid fetuses were added to the study population. In all cases, the crown-rump length and NT were measured. In addition NB, TV flow and DV flow were examined. The summed risk for trisomies 21, 18 and 13 was computed based on: first, maternal age (MA); second, MA and fetal NT; third, MA, NT and one of the markers NB, TV flow or DV flow; fourth, MA, NT and all these markers combined; fifth, MA, NT and fetal anomalies; and, finally, MA, NT, all markers and fetal anomalies. The study population consisted of 4550 euploid and 91 aneuploid fetuses. Median NT was 1.8 mm in euploid fetuses and 4.8, 6.8, 1.8 and 10.0 mm in fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The NB, TV flow and DV flow were abnormal in 48 (1.1%), 34 (0.7%) and 99 (2.2%) euploid fetuses, respectively, and in 42 (46.2%), 31 (34.1%) and 62 (68.1%) aneuploid fetuses, respectively. At least one defect was found in 60 (1.3%) euploid and in 76 (83.5%) aneuploid fetuses. For a false-positive rate of 3%, the detection rate for screening based on MA and fetal NT was 75.8%. It increased to 84.6-86.8% when including one of the additional ultrasound markers and it was 90.1% when all three markers were included. When screening was based on MA, fetal NT and a detailed anomaly scan, the detection rate was 94.5% and increased to 95

  14. Is there a yet unreported unbalanced chromosomal abnormality without phenotypic consequences in proximal 4p?

    Science.gov (United States)

    Liehr, T; Bartels, I; Zoll, B; Ewers, E; Mrasek, K; Kosyakova, N; Merkas, M; Hamid, A B; von Eggeling, F; Posorski, N; Weise, A

    2011-01-01

    Unbalanced chromosomal abnormalities (UBCA) are reported for >50 euchromatic regions of almost all human autosomes. UBCA are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on a partial trisomy of chromosome 4 of the centromere-near region of the short arm of chromosome 4 present as a small supernumerary marker chromosome (sSMC). The sSMC was present in >70% of amnion cells and in 60% of placenta. Further delineation of the size of the duplicated region was done by molecular cytogenetics and array comparative genomic hybridization. Even though the sSMC lead to a partial trisomy of ~9 megabase pairs, a healthy child was born, developing normally at 1 year of age. No comparable cases are available in the literature. Thus, we discuss here the possibility of having found a yet unrecognized chromosomal region subject to UBCA. Copyright © 2010 S. Karger AG, Basel.

  15. Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

    Directory of Open Access Journals (Sweden)

    Jonathan Lévy

    2013-01-01

    Full Text Available Ectrodactyly or split hand and foot malformations (SHFMs are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.

  16. Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.

    NARCIS (Netherlands)

    Ettema, A.M.; Wenghoefer, M.; Hansmann, M.; Carels, C.E.L.; Borstlap, W.A.; Berge, S.J.

    2010-01-01

    OBJECTIVE: To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN: During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with

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

    Science.gov (United States)

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

    2000-05-01

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

  18. Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.

    Science.gov (United States)

    Kagan, K O; Sonek, J; Berg, X; Berg, C; Mallmann, M; Abele, H; Hoopmann, M; Geipel, A

    2015-07-01

    To examine the effectiveness of nasal bone (NB) evaluation (including NB length (NBL)), prenasal thickness (PT) measurement, the PT:NBL ratio and the prefrontal space ratio (PFSR) in the identification of fetuses with trisomy 18 or 13, triploidy or Turner syndrome. This was a retrospective study using stored midsagittal two-dimensional images of the facial profile of fetuses with trisomy 18 or 13, triploidy or Turner syndrome in the second and third trimesters. For images of acceptable quality, measurements were obtained of NBL (where NB was present), PT, the PT:NBL ratio and PFSR, and these measurements were compared with previously published normal ranges. The search of databases identified 189 fetuses that met the study criteria: 132 (69.8%) with trisomy 18, 40 (21.2%) with trisomy 13, 10 (5.3%) with triploidy and seven (3.7%) with Turner syndrome. The NB was either absent or its measurement was below the 5(th) centile in 67 (50.8%), 20 (50.0%), five (50.0%) and two (28.6%) of the fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The PT measurement was above the 95(th) centile in 24 (18.2%), six (15.0%), one (10.0%) and one (14.3%) of the affected fetuses, respectively. The PFSR was abnormal in 72 (54.5%), 29 (72.5%), seven (70%) and four (57.1%) of the cases and the PT:NBL ratio was above the 95(th) centile or the nasal bone was absent in 72 (54.5%), 20 (50.0%), six (60.0%) and four (57.1%) cases, respectively. Although each of the facial markers considered provides some useful information in screening for trisomy 18, trisomy 13, triploidy and Turner syndrome, the performance of none of the markers appears to be as good as that in screening for trisomy 21. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  19. Trisomy 19 as the sole chromosomal anomaly in hematologic neoplasms.

    Science.gov (United States)

    Johansson, B; Billström, R; Mauritzson, N; Mitelman, F

    1994-05-01

    Trisomy 19 was found as the sole chromosomal aberration in three hematologic malignancies: one chronic myelomonocytic leukemia and two cases of of immunophenotypically immature acute myeloid leukemia (AML). A compilation of previously published hematologic neoplasms with +19 as the only change reveals that this anomaly is strongly associated with myeloid malignancies; 25 of 31 cases have been myelodysplastic syndromes (MDS) or AML. Eight of the 11 MDS cases have been either refractory anemia (RA) or RA with excess of blasts, and four of the 14 AML cases have had preleukemic myelodysplastic cases phase, with the +19 accruing during the time of leukemic transformation. The AML cases have, in general, been either or early maturation arrest, i.e. undifferentiated or AML-M1/M2, or of myelomonocytic-monoblastic origin, i.e., AML-M4/M5. None of the MDS or AML cases with +19 had had a previous history of radio- or chemotherapy. We conclude that trisomy 19, as the sole anomaly, is a characteristic abnormality in de novo myeloid malignancies. No clinical features seem to characterize patients with +19 AML and MDS and the prognostic impact of the aberration remains to be elucidated.

  20. Congenital Anomalies Associated with Trisomy 18 or Trisomy 13 : A Registry-Based Study in 16 European Countries, 2000-2011

    NARCIS (Netherlands)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Cavero-Carbonell, Clara; Csaky-Szunyogh, Melinda; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; Dias, Carlos Matias; McDonnell, Robert; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Stoianova, Sylvia; Tuckerz, David; Zymak-Zakutnia, Natalya; Morris, Joan K.

    2015-01-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and

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

    Directory of Open Access Journals (Sweden)

    Meck Jeanne M

    2006-01-01

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

  2. Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma.

    Science.gov (United States)

    Gekas, Jean; Langlois, Sylvie; Ravitsky, Vardit; Audibert, François; van den Berg, David-Gradus; Haidar, Hazar; Rousseau, François

    2014-01-01

    Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21]) generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT) after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype), which is associated with a risk of fetal miscarriage. Recently, genomics-based NIPT (gNIPT) was proposed for the analysis of fetal genomic DNA circulating in maternal blood. The diffusion of this technology in routine prenatal care could be a major breakthrough in prenatal diagnosis, since initial research studies suggest that this novel approach could be very effective and could reduce substantially the number of invasive procedures. However, the limitations of gNIPT may be underappreciated. In this review, we examine currently published literature on gNIPT to highlight advantages and limitations. At this time, the performance of gNIPT is relatively well-documented only in high-risk pregnancies for T21 and trisomy 18. This additional screening test may be an option for women classified as high-risk of aneuploidy who wish to avoid invasive diagnostic tests, but it is crucial that providers carefully counsel patients about the test's advantages and limitations. The gNIPT is currently not recommended as a first-tier prenatal screening test for T21. Since gNIPT is not considered as a diagnostic test, a positive gNIPT result should always be confirmed by an invasive test, such as amniocentesis or chorionic villus sampling. Validation studies are needed to optimally introduce this technology into the existing routine workflow of prenatal care.

  3. Mosaic trisomy 8 detected by fibroblasts cultured of skin

    Science.gov (United States)

    Gómez, Ana M; Mora, Lina; Suarez-Obando, Fernando; Moreno, Olga

    2016-01-01

    Introduction: Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability. Case Description: Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin. Clinical Findings: Physical examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches that followed Blaschko's lines. Cerebral nuclear magnetic resonance revealed type 1 Chiari's malformation and ventriculomegaly. Although the karyotype was normal in peripheral blood (46,XY), based on the finding of cutaneous mosaicism the lesions were biopsied and cytogenetic analysis demonstrated mosaic trisomy 8: mos 47,XY,+8[7]/46,XY[93]. Clinical Relevance: Trisomy 8 is clinically presented as a mosaic, universal cases being unfailingly lethal. In this particular case, cutaneous lesions identified the mosaic in tissue, although the karyotype was normal in peripheral blood. The cutaneous mosaicism represented by brown linear blotches which follow Blaschko's lines is a clinical finding that has not previously been described in Warkany's syndrome. PMID:27546932

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

    Energy Technology Data Exchange (ETDEWEB)

    Hull, Chris [The Blackett Laboratory, Imperial College London,Prince Consort Road London SW7 @AZ (United Kingdom); Lindström, Ulf [The Blackett Laboratory, Imperial College London,Prince Consort Road London SW7 @AZ (United Kingdom); Department of Physics and Astronomy, Division of Theoretical Physics,Uppsala University, Box 516, SE-751 20 Uppsala (Sweden)

    2017-03-08

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

  5. Placental disease and abnormal umbilical artery Doppler waveforms in trisomy 21 pregnancy: A case-control study.

    Science.gov (United States)

    Corry, Edward; Mone, Fionnuala; Segurado, Ricardo; Downey, Paul; McParland, Peter; McAuliffe, Fionnuala M; Mooney, Eoghan E

    2016-11-01

    The objectives of this study were firstly to determine the proportion of placental pathology in fetuses affected by trisomy 21 (T21) using current pathological descriptive terminology and secondly to examine if a correlation existed between the finding of an abnormal umbilical artery Doppler (UAD) waveform, the presence of T21 and defined placental pathological categories. This case-control study assessed singleton fetuses with karyotypically confirmed trisomy 21 where placental histopathology had been conducted from 2003 to 2015 inclusive, within a university tertiary obstetric centre. This was compared with unselected normal singleton control pregnancies matched within a week of gestation at delivery. Data included birthweight centiles and placental histopathology. Comparisons of Doppler findings across placental pathological categories were performed using statistical analysis. 104 cases were analysed; 52 cases of trisomy 21 and 52 controls. Fetal vascular malperfusion (48.1% vs. 5.8%, p = 0.001) and maturation defects (39.2% vs. 15.7%, p = 0.023) were more common in trisomy 21 placentas. Compared with controls, trisomy 21 fetuses were more likely to have shorter umbilical cords (p = 0.001) and had more UAD abnormalities. Amongst T21 pregnancies, umbilical artery Doppler abnormalities are associated with the presence of maternal vascular malperfusion. Fetal vascular malperfusion and maturation defects are more common in trisomy 21 placentas. Abnormal umbilical artery Doppler waveforms are more common in T21 and are associated with maternal vascular malperfusion. Placental disease may explain the increased rate of intrauterine death in T21. Copyright © 2016 Elsevier Ltd. All rights reserved.

  6. Binding of complement proteins C1q and C4bp to serum amyloid P component (SAP) in solid contra liquid phase

    DEFF Research Database (Denmark)

    Sørensen, Inge Juul; Nielsen, EH; Andersen, Ove

    1996-01-01

    Serum amyloid P component (SAP), a member of the conserved pentraxin family of plasma proteins, binds calcium dependently to its ligands. The authors investigated SAPs interaction with the complement proteins C4b binding protein (C4bp) and C1q by ELISA, immunoelectrophoresis and electron microscopy....... Binding of these proteins to SAP was demonstrated when SAP was immobilized using F(ab')2 anti-SAP, but not when SAP reacted with these proteins in liquid phase; thus the binding to human SAP was markedly phase state dependent. Presaturation of solid phase SAP with heparin, which binds SAP with high...... affinity, did not interfere with the subsequent binding of C4bp or C1q to SAP. In contrast, collagen I and IV showed partial competition with the binding of C1q to SAP. Using fresh serum, immobilized native SAP bound C4bp whereas binding of C1q/C1 could not be demonstrated. Altogether the results indicate...

  7. A contemporary, single-institutional experience of surgical versus expectant management of congenital heart disease in trisomy 13 and 18 patients.

    Science.gov (United States)

    Costello, John P; Weiderhold, Allison; Louis, Clauden; Shaughnessy, Conner; Peer, Syed M; Zurakowski, David; Jonas, Richard A; Nath, Dilip S

    2015-06-01

    The objective of this study was to examine a large institutional experience of patients with trisomy 13 and trisomy 18 in the setting of comorbid congenital heart disease and present the outcomes of surgical versus expectant management. It is a retrospective single-institution cohort study. Institutional review board approved this study. Thirteen consecutive trisomy 18 patients and three consecutive trisomy 13 patients (sixteen patients in total) with comorbid congenital heart disease who were evaluated by our institution's Division of Cardiovascular Surgery between January 2008 and December 2013 were included in the study. The primary outcome measures evaluated were operative mortality (for patients who received surgical management), overall mortality (for patients who received expectant management), and total length of survival during follow-up. Of the thirteen trisomy 18 patients, seven underwent surgical management and six received expectant management. With surgical management, operative mortality was 29 %, and 80 % of patients were alive after a median follow-up of 116 days. With expectant management, 50 % of patients died before hospital discharge. Of the three patients with trisomy 13, one patient underwent surgical management and two received expectant management. The patient who received surgical management with complete repair was alive at last follow-up over 2 years after surgery; both patients managed expectantly died before hospital discharge. Trisomy 13 and trisomy 18 patients with comorbid congenital heart disease can undergo successful cardiac surgical intervention. In this population, we advocate that nearly all patients with cardiovascular indications for operative congenital heart disease intervention should be offered complete surgical repair over palliative approaches for moderately complex congenital cardiac anomalies.

  8. Altered hematopoiesis in trisomy 21 as revealed through in vitro differentiation of isogenic human pluripotent cells

    Science.gov (United States)

    MacLean, Glenn A.; Menne, Tobias F.; Guo, Guoji; Sanchez, Danielle J.; Park, In-Hyun; Daley, George Q.; Orkin, Stuart H.

    2012-01-01

    Trisomy 21 is associated with hematopoietic abnormalities in the fetal liver, a preleukemic condition termed transient myeloproliferative disorder, and increased incidence of acute megakaryoblastic leukemia. Human trisomy 21 pluripotent cells of various origins, human embryionic stem (hES), and induced pluripotent stem (iPS) cells, were differentiated in vitro as a model to recapitulate the effects of trisomy on hematopoiesis. To mitigate clonal variation, we isolated disomic and trisomic subclones from the same parental iPS line, thereby generating subclones isogenic except for chromosome 21. Under differentiation conditions favoring development of fetal liver-like, γ-globin expressing, definitive hematopoiesis, we found that trisomic cells of hES, iPS, or isogenic origins exhibited a two- to fivefold increase in a population of CD43+(Leukosialin)/CD235+(Glycophorin A) hematopoietic cells, accompanied by increased multilineage colony-forming potential in colony-forming assays. These findings establish an intrinsic disturbance of multilineage myeloid hematopoiesis in trisomy 21 at the fetal liver stage. PMID:23045682

  9. Pathogenetic, Clinical, and Prognostic Features of Adult t(4;11(q21;q23/MLL-AF4 Positive B-Cell Acute Lymphoblastic Leukemia

    Directory of Open Access Journals (Sweden)

    F. Marchesi

    2011-01-01

    Full Text Available Translocation t(4;11(q21;q23 leading to formation of MLL-AF4 fusion gene is found in about 10% of newly diagnosed B-cell acute lymphoblastic leukemia (ALL in adult patients. Patients expressing this chromosomal aberration present typical biological, immunophenotypic, and clinical features. This form of leukemia is universally recognized as high-risk leukemia and treatment intensification with allogeneic hematopoietic stem cell transplantation (HSCT in first complete remission (CR could be a valid option to improve prognosis, but data obtained from the literature are controversial. In this review, we briefly describe pathogenetic, clinical, and prognostic characteristics of adult t(4;11(q21;q23/MLL-AF4 positive ALL and provide a review of the clinical outcome reported by the most important cooperative groups worldwide.

  10. The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform.

    Directory of Open Access Journals (Sweden)

    Young Joo Jeon

    Full Text Available OBJECTIVE: Recent non-invasive prenatal testing (NIPT technologies are based on next-generation sequencing (NGS. NGS allows rapid and effective clinical diagnoses to be determined with two common sequencing systems: Illumina and Ion Torrent platforms. The majority of NIPT technology is associated with Illumina platform. We investigated whether fetal trisomy 18 and 21 were sensitively and specifically detectable by semiconductor sequencer: Ion Proton. METHODS: From March 2012 to October 2013, we enrolled 155 pregnant women with fetuses who were diagnosed as high risk of fetal defects at Xiamen Maternal & Child Health Care Hospital (Xiamen, Fujian, China. Adapter-ligated DNA libraries were analyzed by the Ion Proton™ System (Life Technologies, Grand Island, NY, USA with an average 0.3× sequencing coverage per nucleotide. Average total raw reads per sample was 6.5 million and mean rate of uniquely mapped reads was 59.0%. The results of this study were derived from BWA mapping. Z-score was used for fetal trisomy 18 and 21 detection. RESULTS: Interactive dot diagrams showed the minimal z-score values to discriminate negative versus positive cases of fetal trisomy 18 and 21. For fetal trisomy 18, the minimal z-score value of 2.459 showed 100% positive predictive and negative predictive values. The minimal z-score of 2.566 was used to classify negative versus positive cases of fetal trisomy 21. CONCLUSION: These results provide the evidence that fetal trisomy 18 and 21 detection can be performed with semiconductor sequencer. Our data also suggest that a prospective study should be performed with a larger cohort of clinically diverse obstetrics patients.

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

    Science.gov (United States)

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

    2009-01-01

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

  12. 4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.

    Science.gov (United States)

    Piccione, Maria; Salzano, Emanuela; Vecchio, Davide; Ferrara, Dante; Malacarne, Michela; Pierluigi, Mauro; Ferrara, Ines; Corsello, Giovanni

    2015-07-01

    Microscopically chromosome rearrangements of the short arm of chromosome 4 include the two known clinical entities: partial trisomy 4p and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR-1 and WHSCR-2, respectively), which cause cranio-facial anomalies, congenital malformations and developmental delay/intellectual disability. We report on clinical findings detected in a Chinese patient with a de novo 4p16.1-p15.32 duplication in association with a subtle 4p terminal deletion of 6 Mb in size. This unusual chromosome imbalance resulted in WHS classical phenotype, while clinical manifestations of 4p trisomy were practically absent. This observation suggests the hypothesis that haploinsufficiency of sensitive dosage genes with regulatory function placed in WHS critical region, is more pathogenic than concomitant 4p duplicated segment. Additionally clinical findings in our patient confirm a variable penetrance of major malformations and neurological features in Chinese children despite of WHS critical region's deletion. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  13. Whole Genome Amplification of Day 3 or Day 5 Human Embryos Biopsies Provides a Suitable DNA Template for PCR-Based Techniques for Genotyping, a Complement of Preimplantation Genetic Testing

    Directory of Open Access Journals (Sweden)

    Elizabeth Schaeffer

    2017-01-01

    Full Text Available Our objective was to determine if whole genome amplification (WGA provides suitable DNA for qPCR-based genotyping for human embryos. Single blastomeres (Day 3 or trophoblastic cells (Day 5 were isolated from 342 embryos for WGA. Comparative Genomic Hybridization determined embryo sex as well as Trisomy 18 or Trisomy 21. To determine the embryo’s sex, qPCR melting curve analysis for SRY and DYS14 was used. Logistic regression indicated a 4.4%, 57.1%, or 98.8% probability of a male embryo when neither gene, SRY only, or both genes were detected, respectively (accuracy = 94.1%, kappa = 0.882, and p<0.001. Fluorescent Capillary Electrophoresis for the amelogenin genes (AMEL was also used to determine sex. AMELY peak’s height was higher and this peak’s presence was highly predictive of male embryos (AUC = 0.93, accuracy = 81.7%, kappa = 0.974, and p<0.001. Trisomy 18 and Trisomy 21 were determined using the threshold cycle difference for RPL17 and TTC3, respectively, which were significantly lower in the corresponding embryos. The Ct difference for TTC3 specifically determined Trisomy 21 (AUC = 0.89 and RPL17 for Trisomy 18 (AUC = 0.94. Here, WGA provides adequate DNA for PCR-based techniques for preimplantation genotyping.

  14. Maternal serum protein profile and immune response protein subunits as markers for non-invasive prenatal diagnosis of trisomy 21, 18, and 13

    KAUST Repository

    Narasimhan, Kothandaraman

    2013-02-01

    Objectives: To use proteomics to identify and characterize proteins in maternal serum from patients at high-risk for fetal trisomy 21, trisomy 18, and trisomy 13 on the basis of ultrasound and maternal serum triple tests. Methods: We performed a comprehensive proteomic analysis on 23 trisomy cases and 85 normal cases during the early second trimester of pregnancy. Protein profiling along with conventional sodium dodecyl sulfate polyacrylamide gel electrophoresis/Tandem mass spectrometry analysis was carried out to characterize proteins associated with each trisomy condition and later validated using Western blot. Results: Protein profiling approach using surface enhanced laser desorption/ionization time-of-flight mass (SELDI-TOF/MS) spectrometry resulted in the identification of 37 unique hydrophobic proteomic features for three trisomy conditions. Using sodium dodecyl sulfate polyacrylamide gel electrophoresis followed by Matrix Assisted Laser Desorption Ionization - Time of Flight/Time of Flight (MALDI-TOF/TOF) and western blot, glyco proteins such as alpha-1-antitrypsin, apolipoprotein E, apolipoprotein H, and serum carrier protein transthyretin were identified as potential maternal serum markers for fetal trisomy condition. The identified proteins showed differential expression at the subunit level. Conclusions: Maternal serum protein profiling using proteomics may allow non-invasive diagnostic testing for the most common trisomies and may complement ultrasound-based methods to more accurately determine pregnancies with fetal aneuploidies. © 2013 John Wiley & Sons, Ltd.

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

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    Fabien Pierrel

    2017-06-01

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

  16. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

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

  17. Placental Histomorphology in a Case of Double Trisomy 48,XXX,+18

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    Sujal I. Shah

    2018-01-01

    Full Text Available Background. Approximately 50% of early spontaneous abortions are found to have chromosomal abnormalities. In these cases, certain histopathologic abnormalities are suggestive of, although not diagnostic for, the presence of chromosomal abnormalities. However, placental histomorphology in cases of complex chromosomal abnormalities, including double trisomies, is virtually unknown. Case Report. We present the case of a 27-year-old G3P22002 female presenting at 19 weeks and 1 day of gestation by last menstrual period for scheduled prenatal visit. Ultrasound revealed a single fetus without heart tones and adequate amniotic fluid. Limited fetal measurements were consistent with estimated gestational age of 17 weeks. Labor was induced with misoprostol due to fetal demise. Autopsy revealed an immature female fetus with grade 1-2 maceration. The ears were low-set and posteriorly rotated. The fingers were short bilaterally, and the right foot showed absence of the second and third digits. Evaluation of the organs showed predominantly marked autolysis consistent with retained stillbirth. Placental examination revealed multiple findings, including focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve, which have not been previously reported in cases of chromosomal abnormalities. Karyotype of placental tissue revealed a 48,XXX,+18 karyotype and the same double trisomy of fetal thymic tissue by FISH. Conclusion. In addition to convoluted outlines of chorionic villi, villous trophoblastic pseudoinclusions, and clusters of villous cytotrophoblasts, the previously unreported focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve were observed in this double trisomy case. More cases have to

  18. Placental Histomorphology in a Case of Double Trisomy 48,XXX,+18.

    Science.gov (United States)

    Shah, Sujal I; Dyer, Lisa; Stanek, Jerzy

    2018-01-01

    Approximately 50% of early spontaneous abortions are found to have chromosomal abnormalities. In these cases, certain histopathologic abnormalities are suggestive of, although not diagnostic for, the presence of chromosomal abnormalities. However, placental histomorphology in cases of complex chromosomal abnormalities, including double trisomies, is virtually unknown. We present the case of a 27-year-old G3P22002 female presenting at 19 weeks and 1 day of gestation by last menstrual period for scheduled prenatal visit. Ultrasound revealed a single fetus without heart tones and adequate amniotic fluid. Limited fetal measurements were consistent with estimated gestational age of 17 weeks. Labor was induced with misoprostol due to fetal demise. Autopsy revealed an immature female fetus with grade 1-2 maceration. The ears were low-set and posteriorly rotated. The fingers were short bilaterally, and the right foot showed absence of the second and third digits. Evaluation of the organs showed predominantly marked autolysis consistent with retained stillbirth. Placental examination revealed multiple findings, including focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve, which have not been previously reported in cases of chromosomal abnormalities. Karyotype of placental tissue revealed a 48,XXX,+18 karyotype and the same double trisomy of fetal thymic tissue by FISH. In addition to convoluted outlines of chorionic villi, villous trophoblastic pseudoinclusions, and clusters of villous cytotrophoblasts, the previously unreported focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve were observed in this double trisomy case. More cases have to be examined to show if the histology is specific for

  19. Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population

    Science.gov (United States)

    Padula, Francesco; Cignini, Pietro; Giannarelli, Diana; Brizzi, Cristiana; Coco, Claudio; D’Emidio, Laura; Giorgio, Elsa; Giorlandino, Maurizio; Mangiafico, Lucia; Mastrandrea, Marialuisa; Milite, Vincenzo; Mobili, Luisa; Nanni, Cinzia; Raffio, Raffaella; Taramanni, Cinzia; Vigna, Roberto; Mesoraca, Alvaro; Bizzoco, Domenico; Gabrielli, Ivan; Di Giacomo, Gianluca; Barone, Maria Antonietta; Cima, Antonella; Giorlandino, Francesca Romana; Emili, Sabrina; Cupellaro, Marina; Giorlandino, Claudio

    2014-01-01

    Objectives to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine. Methods a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free β-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11+0 and 13+6 weeks of gestation, between April 2007 and December 2008. Results of 3,610 single fetuses included in the study, we had a complete follow-up on 2,984. Fourteen of 17 cases of trisomy 21 were detected when a cut-off of 1:300 was applied [detection rate (DR) 82.4%, 95% confidence interval (CI) 64.2–100; false-positive rate (FPR) 4.7%, 95% CI 3.9–5.4; false-negative rate (FNR) 17.6%, 95% CI 0–35.8%]. Conclusion in our study population the detection rate for trisomy 21, using the combined risk calculation based on maternal age, fetal NT, maternal PAPP-A and free β-hCG levels, was superior to the application of either parameter alone. The algorithm has been validated for first trimester screening in the Italian population. PMID:26266002

  20. Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring.

    Science.gov (United States)

    Melis, Daniela; Genesio, Rita; Del Giudice, Ennio; Taurisano, Roberta; Mormile, Angela; D'Elia, Federica; Conti, Anna; Imperati, Floriana; Andria, Generoso; Nitsch, Lucio

    2012-01-01

    Small supernumerary marker chromosomes (sSMC) occur with a frequency of approximately 0.4 per 1000 newborns and are more frequent in the population with mental retardation and/or with dysmorphic signs. Small supernumerary chromosome rings (sSCR) usually occur as apart of a mosaic karyotype (Liehr et al., 2004). Chromosome 19 supernumerary rings are very rare. Almost all cases of sSMC19 have been reported on Thomas Liehr's website (http://www.med.uni-jena.de/fish/sSMC/19.htm#Start19). Of these cases, 14 were with phenotypic abnormalities and a clear characterization of the sSMC; two cases were suitable for comparison with our case with regard to their genetic content, but not with regard to the structure ofthe sSMC (Manvelyan et al., 2008). The phenotype, associated with partial trisomy 19q, includes facial dysmorphism, growth and mental retardation, macrocephaly, heart malformation and anomalies of the genitourinary and gastrointestinal tracts. The phenotype associated with partial trisomy 19p is characterized by dysmorphic features, severe mental retardation, abnormalities of brain morphology and anomalies of the fingers (Tercanli et al., 2000; Qorri et al., 2002; Novelli et al., 2005; Vraneković et al., 2008). Herein, we report the phenotype and molecular cytogenetic analysis in a patient with the smallest de-novo constitutional ring extended from the p12 to q12 region of chromosome 19.

  1. Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18.

    Science.gov (United States)

    Hayashi, Anri; Kumada, Tomohiro; Furukawa, Oki; Nozaki, Fumihito; Hiejima, Ikuko; Shibata, Minoru; Kusunoki, Takashi; Fujii, Tatsuya

    2015-10-01

    Meckel's diverticulum (MD) is the most prevalent congenital anomaly of the gastrointestinal tract and often presents a diagnostic challenge. Patients with trisomy 18 frequently have MD, but the poor prognosis and lack of consensus regarding management for neonates has meant that precise information on the clinical manifestations in infants and children with MD is lacking. We describe the cases of three children with trisomy 18 who developed symptomatic MD. Intussusception was diagnosed in Patient 1, intestinal volvulus in Patient 2, and gastrointestinal bleeding in Patient 3. All three patients underwent surgical treatment and only the Patient 1 died due to pulmonary hypertensive crisis. The other two patients experienced no further episodes of abdominal symptoms. In patients with trisomy 18, although consideration of postoperative complications and prognosis after surgical treatment is necessary, symptomatic MD should carry a high index of suspicion in patients presenting with acute abdomen. © 2015 Wiley Periodicals, Inc.

  2. q-deformed conformal and Poincare algebras on quantum 4-spinors

    International Nuclear Information System (INIS)

    Kobayashi, Tatsuo; Uematsu, Tsuneo

    1993-01-01

    We investigate quantum deformation of conformal algebras by constructing the quantum space for sl q (4). The differential calculus on the quantum space and the action of the quantum generators are studied. We derive deformed su(2, 2) algebra from the deformed sl(4) algebra using the quantum 4-spinor and its conjugate spinor. The quantum 6-vector in so q (4, 2) is constructed as a tensor product of two sets of 4-spinors. We obtain the q-deformed conformal algebra with the suitable assignment of the generators which satisfy the reality condition. The deformed Poincare algebra is derived through a contraction procedure. (orig.)

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

    International Nuclear Information System (INIS)

    Umarov, S; Queiros, S M Duarte

    2010-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-02-05

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

  5. Proliferative kinetics and chromosome damage in trisomy 21 lymphocyte cultures exposed to gamma-rays and bleomycin

    International Nuclear Information System (INIS)

    Morimoto, K.; Kaneko, T.; Iijima, K.; Koizumi, A.

    1984-01-01

    Lymphocytes from patients with Down's syndrome (trisomy 21) have been investigated for cell cycle kinetics, cell proliferation delays, and chromosomal aberrations after exposure to gamma-rays or bleomycin. Analysis by sister chromatid differential staining revealed that trisomy 21 lymphocytes started cell cycling about 5 hr earlier than did normal diploid lymphocytes after phytohemagglutinin stimulation as a whole, but that cycling trisomic and normal cells had the same mean cell cycle times. When exposed to gamma-rays or bleomycin in G0, trisomy 21 lymphocytes showed a 30% or, on average, 50% longer duration of cell turnover times, respectively, than normal cells; only bleomycin-treated trisomic cells had a biphasic dose-response. Frequencies of dicentrics and rings in first-division cells after gamma-ray or bleomycin exposure were twice as high in trisomic cells as in normal cells. The frequency of aberrations decreased by 50% (gamma-ray-exposed) or 65 to 85% (bleomycin-treated) through successive divisions; trisomic cells showed a more marked decline in aberration yields compared to normal cells after bleomycin treatment. These data support the idea that circulating lymphocytes in trisomy 21 patients have a shorter average life span or a younger average age

  6. A Neumann problem with the $q$-Laplacian on a solid torus in the critical of supercritical case

    Directory of Open Access Journals (Sweden)

    Nikos Labropoulos

    2007-11-01

    Full Text Available Following the work of Ding [21] we study the existence of a nontrivial positive solution to the nonlinear Neumann problem $$displaylines{ Delta_qu+a(xu^{q-1}=lambda f(xu^{p-1}, quad u>0quad hbox{on } T,cr abla u|^{q-2}frac{partial u}{partial u}+b(x u^{q-1} =lambda g(xu^{ilde{p}-1} quadhbox{on }{partial T},cr p =frac{2q}{2-q}>6,quad ilde{p}=frac{q}{2-q}>4,quad frac{3}{2}<q<2, }$$ on a solid torus of $mathbb{R}^3$. When data are invariant under the group $G=O(2imes I subset O(3$, we find solutions that exhibit no radial symmetries. First we find the best constants in the Sobolev inequalities for the supercritical case (the critical of supercritical.

  7. Molecular cytogenetic characterization of the first reported case of an inv dup (4p)(p15.1-pter) with a concomitant 4q35.1-qter deletion and normal parents.

    Science.gov (United States)

    Tassano, E; Alpigiani, M G; Salvati, P; Gimelli, S; Lorini, R; Gimelli, G

    2012-12-15

    Inverted duplications associated with terminal deletions are complex anomalies described in an increasing of chromosome ends. We report on the cytogenetic characterization of the first de novo inv dup del(4) with partial 4p duplication and 4q deletion in a girl with clinical signs consistent with "recombinant 4 syndrome". This abnormality was suspected by banding, but high-resolution molecular cytogenetic investigations allowed us to define the breakpoints of the rearrangement. The terminal duplicated region extending from 4p15.1 to the telomere was estimated to be 29.27 Mb, while the size of the terminal deletion was 3.114 Mb in the 4q35.1 region. Until now, 10 patients with duplicated 4p14-p15 and deleted 4q35 chromosome 4 have been described. In all cases the abnormal chromosome 4 was derived from a pericentric inversion inherited from one of the parents. In conclusion, we have identified the first case of inv dup del(4) with normal parents suggesting that, often, terminal duplications or terminal deletions mask complex rearrangements. Copyright © 2012 Elsevier B.V. All rights reserved.

  8. Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group.

    Science.gov (United States)

    Kosho, Tomoki; Kuniba, Hideo; Tanikawa, Yuko; Hashimoto, Yoko; Sakurai, Hiroko

    2013-07-01

    We conducted a questionnaire-based study in collaboration with a Japanese trisomy 18 parental support group. Sixty-five children (female, 68%) with full trisomy 18 were evaluated. Diagnosis was made prenatally in 17% (11/65) and 57% (37/65) were born following a cesarean. The mean gestational age at delivery was 38 weeks and 6 days, and the mean birth weight was 1,920 g (-2.6SD). A total of 51% (24/47) of children had apneic episodes. Thirteen children experienced generalized seizures, and a minority was seizure-free with medication. Parents of 36% (18/50) of children were offered intensive treatment. A total of 45% (27/60) of children received intermittent mandatory ventilation, which was weaned off in half of them. Nine had surgeries, including esophageal atresia/omphalocele correction, cardiac surgery, and tracheostomy. A total of 15% (8/55) were fed fully orally, and 45% (29/64) were discharged home. Slow but constant psychomotor development was observed, and in four long-term survivors over 10 years, two walked unassisted. Factors significantly associated with survival over 1 year included diagnosis after birth, absence of prematurity, heavier birth weight, absence of esophageal atresia, extubation, ability to feed orally without medical assistance, and home discharge. Parents appeared to be positive about caring for their children, and the children seemed to interact with parents and siblings as long as they lived, resulting in quality family time. The family point of view, as well as knowledge of natural history, should be considered when policy statements about the care of children with trisomy 18 are made. Copyright © 2013 Wiley Periodicals, Inc.

  9. Effect of deviation of nuchal translucency measurements on the performance of screening for trisomy 21.

    Science.gov (United States)

    Kagan, K O; Wright, D; Etchegaray, A; Zhou, Y; Nicolaides, K H

    2009-06-01

    To examine the effect of deviations in median nuchal translucency thickness (NT) and the spread in measurements on the performance of screening for trisomy 21 by maternal age and fetal NT, and by maternal age, fetal NT and maternal serum biochemistry. We simulated the NT and multiples of the median values for pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (beta-hCG) for 500 000 euploid and 500 000 trisomy 21 pregnancies at 12 weeks of gestation. Detection rates for trisomy 21 and false-positive rates were calculated without adjustments in NT and by adding or subtracting values ranging from 0.1 to 1.0 mm to each observed measurement. In addition, the effects of variation in the scatter of NT measurements were examined by applying a multiplicative factor ranging from 0.5 to 2 to the SD. The detection rate of trisomy 21 for a fixed false-positive rate of 3% in screening by maternal age and fetal NT was 72%, and in screening by maternal age, fetal NT and serum free beta-hCG and PAPP-A it was 86%. A consistent underestimate or overestimate in the measured NT reduced the detection rate of trisomy 21 for a fixed-false positive rate. At a fixed screen-positive cut-off an underestimate in fetal NT reduced the detection rate whereas an overestimate in NT increased the false-positive rate. A widening in the scatter of measurements had only a small impact on the detection rate but it caused a major increase in the false-positive rate. High performance of screening necessitates appropriate measurement of fetal NT. This paper demonstrates the effect of deviations in the median and SD of NT from the expected on the performance of screening and can form the basis of audit of results of individual sonographers. (c) 2009 ISUOG.

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

    Directory of Open Access Journals (Sweden)

    Catarina M Quinzii

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

  11. Double trisomy mosaic (47,XXX/48,XXX,+13) confirmed by FISH and skin fibroblast culture

    Energy Technology Data Exchange (ETDEWEB)

    Lieber, E.; Grady, V.; Dosik, H. [Interfaith Medical Center, Brooklyn, NY (United States)] [and others

    1994-09-01

    A 4 lb 8 oz female was born to a 49-year-old woman (P1200G12) at 40 weeks. The baby had tetralogy of Fallot, polydactyly, microcephaly, low set simple ears, posterior cleft of the soft palate and overlapping flexion deformities of both hands. The eyes were deep set. The clinical impression was trisomy 13. The baby is not doing well and needs a gastrotomy tube for feeding. Sucking is allright but swallowing is impeded. An MRI showed an anomaly of the corpus callosum. The ophthalmological examination showed no abnormalities. A chromosome study on a 2-day peripheral blood sample resulted in poor growth and poor morphology; however, 20 Giemsa-banded cells revealed a 47,XXX karyotype. A second specimen was obtained to search for mosaicism and a blood smear revealed nuclear projections on the neutrophils. FISH analysis using whole chromosome painting probe (Life Technologies) first identified the extra chromosome number 13, the final results showing five of sixty metaphase cells (8.3%) with trisomy 13. Cytogenetic analysis using Giemsa-banding technique revealed four cells in fifty examined (8.0%) with a 48,XXX,+13 karyotype. In order to further evaluate the mosaicism, cytogenetic analysis of a skin fibroblast culture was performed. Twenty one of twenty three cells examined (91.3%) showed the 48,XXX,+13 karyotype. FISH analysis of the skin biopsy revealed eighteen of twenty cells (90.9%) with the trisomy 13. The FISH technique is an important enhancement to routine cytogenetic studies when they do not immediately correlate with clinical impressions.

  12. Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22.

    Directory of Open Access Journals (Sweden)

    Mine S Cicek

    Full Text Available A substantial proportion of familial colorectal cancer (CRC is not a consequence of known susceptibility loci, such as mismatch repair (MMR genes, supporting the existence of additional loci. To identify novel CRC loci, we conducted a genome-wide linkage scan in 356 white families with no evidence of defective MMR (i.e., no loss of tumor expression of MMR proteins, no microsatellite instability (MSI-high tumors, or no evidence of linkage to MMR genes. Families were ascertained via the Colon Cancer Family Registry multi-site NCI-supported consortium (Colon CFR, the City of Hope Comprehensive Cancer Center, and Memorial University of Newfoundland. A total of 1,612 individuals (average 5.0 per family including 2.2 affected were genotyped using genome-wide single nucleotide polymorphism linkage arrays; parametric and non-parametric linkage analysis used MERLIN in a priori-defined family groups. Five lod scores greater than 3.0 were observed assuming heterogeneity. The greatest were among families with mean age of diagnosis less than 50 years at 4q21.1 (dominant HLOD = 4.51, α = 0.84, 145.40 cM, rs10518142 and among all families at 12q24.32 (dominant HLOD = 3.60, α = 0.48, 285.15 cM, rs952093. Among families with four or more affected individuals and among clinic-based families, a common peak was observed at 15q22.31 (101.40 cM, rs1477798; dominant HLOD = 3.07, α = 0.29; dominant HLOD = 3.03, α = 0.32, respectively. Analysis of families with only two affected individuals yielded a peak at 8q13.2 (recessive HLOD = 3.02, α = 0.51, 132.52 cM, rs1319036. These previously unreported linkage peaks demonstrate the continued utility of family-based data in complex traits and suggest that new CRC risk alleles remain to be elucidated.

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

    Directory of Open Access Journals (Sweden)

    Halit Akbas

    2013-01-01

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

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

    Science.gov (United States)

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

    2013-01-01

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

  15. Two new ternary chalcogenides Ba{sub 2}ZnQ{sub 3} (Q = Se, Te) with chains of ZnQ{sub 4} tetrahedra. Syntheses, crystal structure, and optical and electronic properties

    Energy Technology Data Exchange (ETDEWEB)

    Prakash, Jai; Beard, Jessica; Malliakas, Christos D.; Ibers, James A. [Northwestern Univ., Evanston, IL (United States). Dept. of Chemistry; Mesbah, Adel [Northwestern Univ., Evanston, IL (United States). Dept. of Chemistry; ICSM, UMR 5257 CEA/CNRS/UM2/ENSCM, Bagnols-sur-Ceze (France); Rocca, Dario; Lebegue, Sebastien [Univ. de Lorraine, Vandoeuvre-les-Nancy (France). Lab. de Cristallographie, Resonance Magnetique et Modelisations (CRM2, UMR CNRS 7036)

    2016-08-01

    Single crystals of Ba{sub 2}ZnQ{sub 3} (Q = Se, Te) were obtained by solid-state reactions at 1173 K. These isostructural compounds crystallize in the K{sub 2}AgI{sub 3} structure type. The Zn atoms in this structure are coordinated to four Q atoms (2 Q1, 1 Q2, 1 Q3) and these form a distorted tetrahedron around each Zn atom. Each ZnQ{sub 4} tetrahedron shares two corners with neighboring ZnQ{sub 4} tetrahedra resulting in the formation of infinite chains of [ZnQ{sub 4}{sup 4-}] units. The absorption spectrum of a single crystal of Ba{sub 2}ZnTe{sub 3} shows an absorption edge at 2.10(2) eV, consistent with the dark-red color of the crystals. From DFT calculations Ba{sub 2}ZnSe{sub 3} and Ba{sub 2}ZnTe{sub 3} are found to be semiconductors with electronic band gaps of 2.6 and 1.9 eV, respectively.

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

    Directory of Open Access Journals (Sweden)

    Byung Ho Choi

    2013-09-01

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

  17. The Influence of trisomy 21 on facial form and variability.

    Science.gov (United States)

    Starbuck, John M; Cole, Theodore M; Reeves, Roger H; Richtsmeier, Joan T

    2017-11-01

    Triplication of chromosome 21 (trisomy 21) results in Down syndrome (DS), the most common live-born human aneuploidy. Individuals with DS have a unique facial appearance that can include form changes and altered variability. Using 3D photogrammatic images, 3D coordinate locations of 20 anatomical landmarks, and Euclidean Distance Matrix Analysis methods, we quantitatively test the hypothesis that children with DS (n = 55) exhibit facial form and variance differences relative to two different age-matched (4-12 years) control samples of euploid individuals: biological siblings of individuals with DS (n = 55) and euploid individuals without a sibling with DS (n = 55). Approximately 36% of measurements differ significantly between DS and DS-sibling samples, whereas 46% differ significantly between DS and unrelated control samples. Nearly 14% of measurements differ significantly in variance between DS and DS sibling samples, while 18% of measurements differ significantly in variance between DS and unrelated euploid control samples. Of those measures that showed a significant difference in variance, all were relatively increased in the sample of DS individuals. These results indicate that faces of children with DS are quantitatively more similar to their siblings than to unrelated euploid individuals and exhibit consistent, but slightly increased variation with most individuals falling within the range of normal variation established by euploid samples. These observations provide indirect evidence of the strength of the genetic underpinnings of the resemblance between relatives and the resistance of craniofacial development to genetic perturbations caused by trisomy 21, while underscoring the complexity of the genotype-phenotype map. © 2017 Wiley Periodicals, Inc.

  18. Fisiognomica a Qumran: a proposito di 4Q186

    Directory of Open Access Journals (Sweden)

    Catastini, Alessandro

    2010-06-01

    Full Text Available In a previous study, the Author singled out physiognomonic practice by Essenes according to Flavius Josephus’ source in Ant II, 119-161. In this article, the research is extended to the Qumranic manuscript 4Q186, a parchment carrying a text whose content is manifestly physiognomonic. In consequence of a comparison between this text and the so-called Two Spirits Treatise of 1QS, the Author argues that the expression רוח לו, utilised in 4Q186, points out the “typology” of the spirit of the individuals that are considered in this text.

    En un estudio previo, el autor había estudiado la práctica fisiognómica de los esenios a partir de la evidencia recogida por Flavio Josefo (Ant II, 119-161. En esta ocasión, la investigación se extiende al manuscrito 4Q186, cuyo texto tiene un contenido claramente fisiognómico. La comparación entre este texto y el denominado Tratado de los Dos Espíritus (1QS, lleva al autor a señalar que la expresión רוח לו utilizada en 4Q186 muestra la «tipología» del espíritu de los individuos de los que trata este texto.

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

    DEFF Research Database (Denmark)

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

    2005-01-01

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

  20. Trisomy 11 as an Additional Chromosome Alteration in a Child with Acute Promyelocytic Leukemia with Poor Prognosis

    Directory of Open Access Journals (Sweden)

    Elenice Ferreira Bastos

    2012-01-01

    Full Text Available The prognostic significance of the additional abnormalities to the t(15; 17 remains controversial. We report a case of promyelocytic leukemia (APL in a ten-year-old boy. Classical and molecular cytogenetic (FISH studies of a bone marrow sample obtained at diagnosis revealed the presence of trisomy of chromosome 11 as an additional chromosomal abnormality to the t(15; 17. The presence of the translocation t(15; 17, the cytogenetic marker of APL, is usually associated with good response to treatment with ATRA. In this case, although the patient had risk factors associated with good prognosis, he evolved and died quickly. So it seems that the presence of the trisomy 11 may be associated with disease progression and the poor outcome. To our knowledge, this is the first reported case of t(15; 17 associated with trisomy of chromosome 11 in a child with APL.

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Hidetoshi Tahara

    2015-01-01

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

  3. Trisomy 8 in Pediatric Acute Myeloid Leukemia. A NOPHO-AML Study

    DEFF Research Database (Denmark)

    Laursen, Anne Cathrine Lund; Sandahl, Julie Damgaard; Kjeldsen, Eigil

    2016-01-01

    Trisomy 8 (+8) is a common cytogenetic aberration in acute myeloid leukemia (AML); however, the impact of +8 in pediatric AML is largely unknown. We retrospectively investigated 609 patients from the NOPHO-AML database to determine the clinical and cytogenetic characteristics of +8 in pediatric AML...

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

    Science.gov (United States)

    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

  5. Cryptogenic embolic stroke in a girl with a trisomy 21 mosaic.

    Science.gov (United States)

    Stöllberger, Claudia; Weiss, Simone; Zlabinger, Gerhard; Finsterer, Josef

    2012-06-01

    Stroke in trisomy 21 may be due to cardioembolism, atherosclerosis, vasculitis, moyamoya disease, sinus venous thrombosis, internal carotid hypoplasia or infections like endocarditis with septic emboli, meningitis or brain abscess. In rare cases, however, stroke etiology remains unexplained. We present a 19 year old Caucasian girl with trisomy 21 with a 47XX+21 karyotype who suffered at age 11 years from a transient ischemic attack with left hemiparesis, and at age 17 years from an ischemic stroke in the territory of the right cerebral medial artery. She suffered from arterial hypertension, obesity and hypercholesterolemia. Since blood coagulation studies, immunologic parameters, blood cultures, 24-h Holter monitoring, transthoracic and transesophageal echocardiography, magnetic resonance angiography of the extra- and intracranial vessels, thoracic and abdominal aorta and renal arteries did not provide any explanation for the stroke, implantation of a loop recorder is considered in order to detect episodes of clinically silent atrial fibrillation.

  6. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism.

    Science.gov (United States)

    Hall, April L; Drendel, Holli M; Verbrugge, Jennifer L; Reese, Angela M; Schumacher, Katherine L; Griffith, Christopher B; Weaver, David D; Abernathy, Mary P; Litton, Christian G; Vance, Gail H

    2013-09-01

    We report on a case in which cell-free fetal DNA was positive for trisomy 13 most likely due to confined placental mosaicism. Cell-free fetal DNA testing analyzes DNA derived from placental trophoblast cells and can lead to incorrect results that are not representative of the fetus. We sought to confirm commercial cell-free fetal DNA testing results by chorionic villus sampling and amniocentesis. These results were followed up by postnatal chromosome analysis of cord blood and placental tissue. First-trimester cell-free fetal DNA test results were positive for trisomy 13. Cytogenetic analysis of chorionic villus sampling yielded a mosaic karyotype of 47,XY,+13[10]/46,XY[12]. G-banded analysis of amniotic fluid was normal, 46,XY. Postnatal cytogenetic analysis of cord blood was normal. Karyotyping of tissues from four quadrants of the placenta demonstrated mosaicism for trisomy 13 in two of the quadrants and a normal karyotype in the other two. Our case illustrates several important aspects of this new testing methodology: that cell-free fetal DNA may not be representative of the fetal karyotype; that follow-up with diagnostic testing of chorionic villus sampling and/or amniotic fluid for abnormal test results should be performed; and that pretest counseling regarding the full benefits, limitations, and possible testing outcomes of cell-free fetal DNA screening is important.

  7. Low-Q structure related to partially saturated pores within the reservoir beneath The Geysers area in the northern California

    Science.gov (United States)

    Matsubara, M.

    2011-12-01

    with a high-Q zone. A vertical cross section shows the low-Q zone is consistent with the reservoir as it extends through the main greywacke and into the uppermost part of the felsite. Most of the felsite has high-Q, however, the portion of the reservoir that extends into the felsite has low-Q. The Geysers geothermal area is bounded by Collayomi fault zone to the northeast and the Mercuryville fault zone to the southwest. The Geysers Peak fault runs from northwest to southeast about 3 km southwest of the Mercuryville fault. The Mercuryville fault dips to northeast and the Geysers Peak fault dips to southwest. High-Q zone is located between these faults and the width of this zone broadens as the depth increases corresponding to the fault geometry. The presence of liquid water introduces high-Vp/Vs, however, steam rich zones become low-Vp/Vs. Near the transition zone between the water and steam, laboratory experiments indicate that the amplitude becomes extremely small (Ito et al., 1979). A partially saturated zone has lower Q than a fully saturated zone, and a dry zone has high-Q. A low-Q zone with low-Vp/Vs corresponding to the reservoir indicates that the reservoir is partially saturated with steam and water near transition zone.

  8. Diaphragm myoclonus followed by generalised atonia in a patient with trisomy 4p: unusual semiology in an unusual condition.

    Science.gov (United States)

    Varley, James; Wehner, Tim; Sisodiya, Sanjay

    2015-12-01

    In this report, we describe a female patient with trisomy 4p, a rare genetic condition, with unusual seizure semiology. The patient is one of the oldest reported survivors with this condition. This semiology was noted while she was being monitored by inpatient video telemetry. We observed a series of myoclonic shoulder jerks, followed by hiccup-like episodes, and finally an atonic head drop. Corresponding ictal EEG showed semi-rhythmic high-amplitude slow waves with spikes superimposed over the frontotemporal areas. This semiology was confirmed as habitual by her parents. Subsequent hiccup-like episodes had no EEG correlate, and the head drop was again associated with semi-rhythmic high-amplitude slow waves and superimposed spikes, more prominent over the right hemisphere. In addition, we review the several cases in which hiccups have been associated with seizures and how this may relate to the neural pathways involved in the pathophysiology of hiccups. We believe the ictal hiccup-like episodes followed by atonia to be a seizure semiology that has not previously been documented. [Published with video sequence].

  9. Immunoreactive Cu-SOD and Mn-SOD in lymphocytes sub-populations from normal and trisomy 21 subjects according to age

    International Nuclear Information System (INIS)

    Baeteman, M.A.; Baret, A.; Courtiere, A.; Rebuffel, P.; Mattei, J.F.

    1983-01-01

    Copper and manganese superoxide dismutases (Cu-SOD and Mn-SOD) were measured by radioimmunoassay in B and T lymphocytes and macrophages, in patients with trisomy 21 and in matched controls. In the controls, Cu-SOD was present in greater amounts than Mn-SOD and there were quantitative differences in the distribution in the three cellular sub-populations. In trisomy 21, levels of Cu-SOD were raised, with no change in levels of Mn-SOD, supporting the theory of a gene dosage effect. There were significant positive and negative correlations between age and Cu-SOD levels in controls, and a correlation approaching significance for Mn-SOD. In trisomy 21, there was no correlation between age and Cu-SOD levels, and the only significant correlation for Mn-SOD was for B lymphocytes

  10. Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

    Science.gov (United States)

    Ürel Demir, Gizem; Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Boduroğlu, Koray; Gucer, Safak; Alikaşifoğlu, Mehmet

    2017-12-01

    Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD. Trisomy 13 is a relatively common and well-known chromosomal disorder in which disorders of sexual differentiation are not frequent. In the absence of SRY, overexpression of pro-testis genes, or decreased expression of pro-ovarian/anti-testis genes have been suggested as underlying mechanisms of testicular formation. The findings in this patient were suggestive of an underlying genomic disorder associated with FGF9 and/or SPRY2.

  11. A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

    Directory of Open Access Journals (Sweden)

    Shalinder Singh

    2012-01-01

    Full Text Available Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19ins(19;9(q13.4;q34.3q34.3pat. Cytogenetic microarray analysis (CMA identified a ~2.3Mb duplication of 9q, which was confirmed by Fluorescence in situ hybridisation (FISH. The duplication at 9q34.3 is the smallest among the cases reported so far. The proband exhibits similar clinical features to those previously reported cases with larger duplication events.

  12. Active filter for INDUS-2 Q4 and Q5 power supplies

    International Nuclear Information System (INIS)

    Singh, Y.P.; Thakurta, A.C.; Kotaiah, S.

    2003-01-01

    Q4 and Q5 power supplies are SCR based power supplies wherein the rectified voltage is fed to a passive filter to reduce the ripple voltage. The output of the passive filter still contains some ripple particularly on the low frequency side. Attenuation of this ripple with passive filter necessitates increase in size of L and C and leads to sluggishness of the system. The design and the test results of an active filter module have been discussed wherein the low frequency attenuation can be very effectively taken care of by, allowing this to be absorbed in a coupling transformer put after the passive filter. Considerable size reduction has been achieved by using switching techniques. Low frequency attenuation has been made quite a simple task. This filter also helps in handling transients from input. (author)

  13. Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

    DEFF Research Database (Denmark)

    Boyd, Patricia Anne; Loane, Maria; Garne, Ester

    2011-01-01

    This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries ...

  14. Comparison of two immunoassay systems for hCGβ and PAPP-A in prenatal screening for trisomy 21, 18, and 13 in the first trimester

    DEFF Research Database (Denmark)

    Engell, Anna Elise; Carlsson, Elin Rebecka; Jørgensen, Finn Stener

    2017-01-01

    OBJECTIVES: The biochemical serum markers free β-human chorionic gonadotropin (hCGβ) and pregnancy associated plasma protein A (PAPP-A), used in screening for trisomy 21 (T21), trisomy 18 (T18), and trisomy 13 (T13) during the first trimester, can be measured on different laboratory instruments e.......g. Kryptor (Brahms) and Cobas (Roche). We compared the performance of these two analytical instruments when used for first trimester combined testing. DESIGN AND METHODS: Serum samples from 944 singleton pregnant women attending for first trimester combined testing were routinely assayed for hCGβ and PAPP...

  15. Facial profile markers in second- and third-trimester fetuses with trisomy 18

    NARCIS (Netherlands)

    Vos, F. I.; De Jong-Pleij, E. A P; Bakker, M.; Tromp, E.; Manten, G. T R; Bilardo, C. M.

    2015-01-01

    Objectives To evaluate nasal bone length (NBL), maxilla-nasion-mandible (MNM) angle, fetal profile (FP) line, prenasal thickness (PT), prenasal thickness to nasal bone length (PT:NBL) ratio and prefrontal space ratio (PFSR) as markers of trisomy 18 in the second and third trimesters of pregnancy.

  16. Exceptional Complex Chromosomal Rearrangements in Three Generations

    Directory of Open Access Journals (Sweden)

    Hannie Kartapradja

    2015-01-01

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

  17. Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding

    DEFF Research Database (Denmark)

    Rossi, Marie L; Ghosh, Avik K; Kulikowicz, Tomasz

    2010-01-01

    Humans have five members of the well conserved RecQ helicase family: RecQ1, Bloom syndrome protein (BLM), Werner syndrome protein (WRN), RecQ4, and RecQ5, which are all known for their roles in maintaining genome stability. BLM, WRN, and RecQ4 are associated with premature aging and cancer...... provide the first evidence that human RecQ4's unwinding is independent of strand annealing, and that it does not require the presence of excess ssDNA. Moreover, we demonstrate that a point mutation of the conserved lysine in the Walker A motif abolished helicase activity, implying that not the N...... activities and protein partners of RecQ4 are conserved with those of the other RecQ helicases....

  18. Non-disjunction of chromosome 18

    DEFF Research Database (Denmark)

    Bugge, M; Collins, A; Petersen, M B

    1998-01-01

    A sample of 100 trisomy 18 conceptuses analysed separately and together with a published sample of 61 conceptuses confirms that an error in maternal meiosis II (MII) is the most frequent cause of non-disjunction for chromosome 18. This is unlike all other human trisomies that have been studied......, which show a higher frequency in maternal meiosis I (MI). Maternal MI trisomy 18 shows a low frequency of recombination in proximal p and medial q, but not the reduction in proximal q observed in chromosome 21 MI non-disjunction. Maternal MII non-disjunction does not fit the entanglement model...... that predicts increased recombination, especially near the centromere. Whereas recent data on MII trisomy 21 show the predicted increase in recombination proximally, maternal MII trisomy 18 has non-significantly reduced recombination. Therefore, chromosome-specific factors must complicate the simple model...

  19. 28 CFR 73.4 - Partial compliance not deemed compliance.

    Science.gov (United States)

    2010-07-01

    ... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Partial compliance not deemed compliance. 73.4 Section 73.4 Judicial Administration DEPARTMENT OF JUSTICE (CONTINUED) NOTIFICATIONS TO THE ATTORNEY GENERAL BY AGENTS OF FOREIGN GOVERNMENTS § 73.4 Partial compliance not deemed compliance. The fact...

  20. Differences in the Clinical Presentation of Trisomy 21 with and without Autism

    Science.gov (United States)

    Molloy, C. A.; Murray, D. S.; Kinsman, A.; Castillo, H.; Mitchell, T.; Hickey, F. J.; Patterson, B.

    2009-01-01

    Background: Autism occurs 10 times more often in children with Down syndrome than in the general population, but diagnosing co-occurring autism in Down syndrome with severe intellectual disability is challenging. The objective of this case-control study was to identify characteristics differentiating children with trisomy 21 with and without…

  1. Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis

    International Nuclear Information System (INIS)

    Casarin, Alberto; Jimenez-Ortega, Jose Carlos; Trevisson, Eva; Pertegato, Vanessa; Doimo, Mara; Ferrero-Gomez, Maria Lara; Abbadi, Sara; Artuch, Rafael; Quinzii, Catarina; Hirano, Michio; Basso, Giuseppe; Ocana, Carlos Santos; Navas, Placido; Salviati, Leonardo

    2008-01-01

    Defects in genes involved in coenzyme Q (CoQ) biosynthesis cause primary CoQ deficiency, a severe multisystem disorders presenting as progressive encephalomyopathy and nephropathy. The COQ4 gene encodes an essential factor for biosynthesis in Saccharomyces cerevisiae. We have identified and cloned its human ortholog, COQ4, which is located on chromosome 9q34.13, and is transcribed into a 795 base-pair open reading frame, encoding a 265 amino acid (aa) protein (Isoform 1) with a predicted N-terminal mitochondrial targeting sequence. It shares 39% identity and 55% similarity with the yeast protein. Coq4 protein has no known enzymatic function, but may be a core component of multisubunit complex required for CoQ biosynthesis. The human transcript is detected in Northern blots as a ∼1.4 kb single band and is expressed ubiquitously, but at high levels in liver, lung, and pancreas. Transcription initiates at multiple sites, located 333-23 nucleotides upstream of the ATG. A second group of transcripts originating inside intron 1 of the gene encodes a 241 aa protein, which lacks the mitochondrial targeting sequence (isoform 2). Expression of GFP-fusion proteins in HeLa cells confirmed that only isoform 1 is targeted to mitochondria. The functional significance of the second isoform is unknown. Human COQ4 isoform 1, expressed from a multicopy plasmid, efficiently restores both growth in glycerol, and CoQ content in COQ4 null yeast strains. Human COQ4 is an interesting candidate gene for patients with isolated CoQ 10 deficiency

  2. Q4 生理学

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    Q42 2005062285共聚焦激光扫描显微镜技术在研究大鼠海马神经元胞内钙超载中的应用=Application of confocal laser scanning microscopy on study calcium overload in rat hippocampal neurons;Q42 2005062286N型钙通道与疼痛=Involvement of N-type calcium channels in pain and antinociception;……

  3. Q{sub {gamma}-H2AX}, an analysis method for partial-body radiation exposure using {gamma}-H2AX in non-human primate lymphocytes

    Energy Technology Data Exchange (ETDEWEB)

    Redon, Christophe E., E-mail: redonc@mail.nih.gov [NIH, NCI, CCR, Laboratory of Molecular Pharmacology, Bethesda, MD 20892 (United States); Nakamura, Asako J.; Gouliaeva, Ksenia [NIH, NCI, CCR, Laboratory of Molecular Pharmacology, Bethesda, MD 20892 (United States); Rahman, Arifur; Blakely, William F. [Armed Forces Radiobiology Research Institute, Uniformed Services University, Bethesda, MD 20889-5603 (United States); Bonner, William M. [NIH, NCI, CCR, Laboratory of Molecular Pharmacology, Bethesda, MD 20892 (United States)

    2011-09-15

    We previously used the {gamma}-H2AX assay as a biodosimeter for total-body irradiation (TBI) exposure ({gamma}-rays) in a rhesus macaque (Macaca mulatta) model. Utilizing peripheral blood lymphocytes and plucked hairs, we obtained statistically significant {gamma}-H2AX responses days after total-body exposure to 1-8.5 Gy ({sup 60}Co {gamma}-rays at 55 cGy min{sup -1}). Here, we introduce a partial-body exposure analysis method, Q{sub {gamma}-H2AX}, which is based on the number of {gamma}-H2AX foci per damaged cells as evident by having one or more {gamma}-H2AX foci per cell. Results from the rhesus monkey - TBI study were used to establish Q{sub {gamma}-H2AX} dose-response calibration curves to assess acute partial-body exposures. {gamma}-H2AX foci were detected in plucked hairs for several days after in vivo irradiation demonstrating this assay's utility for dose assessment in various body regions. The quantitation of {gamma}-H2AX may provide a robust biodosimeter for analyzing partial-body exposures to ionizing radiation in humans.

  4. Pattern of malformations in the axial skeleton in human trisomy 18 fetuses

    Energy Technology Data Exchange (ETDEWEB)

    Kjaer, I. [Univ. of Copenhagen (Denmark); Hansen, B.F. [Hvidovre Univ. Hospital (Denmark); Keeling, J.W. [Royal Hospital for Sick Children, Edinburgh (United Kingdom)

    1996-11-11

    We examined and described the development and abnormalities of the axial skeleton in 10 human trisomy 18 fetuses. Whole-body radiographs and radiographs of midsagittal tissue blocks of the cranial base and the spine were studied. In 3 fetuses no spinal radiographs were available. Seven osseous regions or fields along the body axis were analyzed, four in the spine, and three in the cranial base and nasal bones. Malformations occurred in the occipital field in all fetuses. This was a characteristic notching, either unilateral or bilateral, of the basilar part of the occipital bone. Nasal bones were abnormal in 8 cases, either absent or hypoplastic. Malformations were found in the thoracic and/or lumbosacral field in 7 fetuses. A single abnormality was found in the cervical spine in one fetus. The pattern of axial skeletal malformation in trisomy 18 fetuses recorded in the present study has not been described previously. Axial skeletal radiography should be included in autopsies of fetuses when chromosome disorders are present or suspected. The methods applied here are unaffected by autolysis. 26 refs., 5 figs.

  5. The simultaneous generation of soliton bunches and Q-switched-like pulses in a partially mode-locked fiber laser with a graphene saturable absorber

    Science.gov (United States)

    Wang, Zhenhong; Wang, Zhi; Liu, Yan-ge; He, Ruijing; Wang, Guangdou; Yang, Guang; Han, Simeng

    2018-05-01

    We experimentally report the coexistence of soliton bunches and Q-switched-like pulses in a partially mode-locked fiber laser with a microfiber-based graphene saturable absorber. The soliton bunches, like isolated spikes with extreme amplitude and ultrashort duration, randomly generate in the background of the Q-switched-like pulses. The soliton bunches have some pulse envelopes in which pulses operate at a fundamental repetition rate in the temporal domain. Further investigation shows that the composite pulses are highly correlated with the noise-like pulses. Our work can make a further contribution to enrich the understanding of the nonlinear dynamics in fiber lasers.

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

    Science.gov (United States)

    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.

  7. 31 CFR 30.4 - Q-4: What actions are necessary for a TARP recipient to comply with the standards established...

    Science.gov (United States)

    2010-07-01

    ... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Q-4: What actions are necessary for a... or manipulation of earnings)? 30.4 Section 30.4 Money and Finance: Treasury Office of the Secretary of the Treasury TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.4 Q-4: What actions are...

  8. Determining the role of mother race in neonatal outcome of trisomies 21, 18 and 13 using cell free DNA analysis

    Directory of Open Access Journals (Sweden)

    Najmie Saadati

    2016-12-01

    Full Text Available To determine the role of mother race in neonatal outcome of trisomies 21, 18 and 13 using cell free DNA (cf-DNA analysis. All women administered for a sonographic imaging at their 10-22 weeks’ gestation which were qualified for cf-DNA testing were suggested for increasing aneuploidy risk, between March 1, 2015 to March 30 , 2016. The cf-DNA analysis was conducted after women received genetic counseling in a specialty laboratory. The results were validated by amniocentesis. A total of 1992 women were screened using cf-DNA analysis. The participants were 1631 Non Arabs (Fars, Kurd, and Lor and 361 Arabs. The fetus risk for trisomy 21 in the Arab women of Arab race was two as much as Non Arab race, but trisomies 18 and 13 in women of Non Arab race were more than Arab race. The role of mother race (such as Arab and Non Arab in neonatal outcome is very important.

  9. Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

    Directory of Open Access Journals (Sweden)

    Kesterson Robert A

    2003-04-01

    Full Text Available Abstract Background Chromosomal abnormalities affecting human chromosome 15q11-q13 underlie multiple genomic disorders caused by deletion, duplication and triplication of intervals in this region. These events are mediated by highly homologous segments of DNA, or duplicons, that facilitate mispairing and unequal cross-over in meiosis. The gene encoding an amyloid precursor protein-binding protein (APBA2 was previously mapped to the distal portion of the interval commonly deleted in Prader-Willi and Angelman syndromes and duplicated in cases of autism. Results We show that this gene actually maps to a more telomeric location and is partially duplicated within the broader region. Two highly homologous copies of an interval containing a large 5' exon and downstream sequence are located ~5 Mb distal to the intact locus. The duplicated copies, containing the first coding exon of APBA2, can be distinguished by single nucleotide sequence differences and are transcriptionally inactive. Adjacent to APBA2 maps a gene termed KIAA0574. The protein encoded by this gene is weakly homologous to a protein termed X123 that in turn maps adjacent to APBA1 on 9q21.12; APBA1 is highly homologous to APBA2 in the C-terminal region and is distinguished from APBA2 by the N-terminal region encoded by this duplicated exon. Conclusion The duplication of APBA2 sequences in this region adds to a complex picture of different low copy repeats present across this region and elsewhere on the chromosome.

  10. Vocal and Gestural Productions of 24-Month-Old Children with Sex Chromosome Trisomies

    Science.gov (United States)

    Zampini, Laura; Draghi, Lara; Silibello, Gaia; Dall'Ara, Francesca; Rigamonti, Claudia; Suttora, Chiara; Zanchi, Paola; Salerni, Nicoletta; Lalatta, Faustina; Vizziello, Paola

    2018-01-01

    Background: Children with sex chromosome trisomies (SCT) frequently show problems in language development. However, a clear description of the communicative patterns of these children is still lacking. Aims: To describe the first stages of language development in children with SCT in comparison with those in typically developing (TD) children. The…

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

    Science.gov (United States)

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

    2014-05-01

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

  12. Electron removal from H and He atoms in collisions with C q+ , O q+ ions

    Science.gov (United States)

    Janev, R. K.; McDowell, M. R. C.

    1984-06-01

    Cross sections for electron capture and ionisation in collision of partially and completely stripped C q+ , N q+ and O q+ ions with hydrogen and helium atoms have been calculated at selected energies. The classical trajectory Monte Carlo method was used with a variable-charge pseudopotential to describe the interaction of the active electron with the projectile ion. A scalling relationship has been derived for the electron removal (capture and ionisation) cross section which allows a unifield representation of the data.

  13. [A case of mosaic ring chromosome 4 with subtelomeric 4p deletion].

    Science.gov (United States)

    Kim, Jeong Hyun; Oh, Phil Soo; Na, Hye Yeon; Kim, Sun-Hee; Cho, Hyoun Chan

    2009-02-01

    Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a well-known congenital anomaly in the ring chromosome 4 with a partial deletion of the distal short arm. Here we report a 10-month-old male of mosaic ring chromosome 4 with the chief complaint of severe short stature. He showed the height of -4 standard deviation, subtle hypothyroidism and mild atrial septal defect/ventricular septal defect, and also a mild language developmental delay was suspected. Brain magnetic resonance imaging showed multifocal leukomalacia. Chromosomal analysis of the peripheral blood showed the mosaic karyotype with [46,XY,r(4)(p16q35)[84]/45,XY,-4[9]/91,XXYY, dic r(4;4)(p16q35;p16q35)[5]/46,XY,dic r(4;4)(p16q35;p16q35)[2

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

    Directory of Open Access Journals (Sweden)

    Cuiwen H. He

    2017-07-01

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

  15. 48 CFR 352.234-4 - Partial earned value management system.

    Science.gov (United States)

    2010-10-01

    ... management system. 352.234-4 Section 352.234-4 Federal Acquisition Regulations System HEALTH AND HUMAN....234-4 Partial earned value management system. As prescribed in 334.203-70(d), the Contracting Officer shall insert the following clause: Partial Earned Value Management System (October 2008) (a) The...

  16. Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report.

    Science.gov (United States)

    Kunwar, Fulesh; Pandya, Vidhi; Bakshi, Sonal R

    2016-03-01

    The heterogeneous phenotype of known syndromes is a clinical challenge, and harmonized description using globally accepted ontology is desirable. This report attempts phenotypic analysis in a patient of constitutional mosaic trisomy 13 in mesoderm and ectoderm to make globally comparable clinical description. Phenotypic features (minor/major abnormalities) were recorded and matched with the Human Phenotype Ontology terms that were used to query web-based tool Phenomizer. We report here a case of 24-year-old girl born to non consanguineous parents with history of one abortion. Her phenotypic evaluation included short columella, low-set ears, seizures, enlarged naris, bifid tongue, infra-orbital fold, smooth philtrum, microtia, microcephaly, carious teeth, downslanted palpebral fissures, proportionate short stature, high palate, thin upper lip vermilion, small for gestational age, broad fingertip, broad hallux, mandibular prognathia and dental malocclusion. Karyotype and interphase FISH (Fluorescence in situ hybridization) was done in blood cells. Interphase FISH was also performed on buccal epithelial cells. Cytogenetic analysis demonstrated trisomy 13 mosaicism in 25% cells i.e. 47, XX,+13(9)/46,XX(27). The interphase FISH in blood cells showed trisomy 13 in 15%, whereas in buccal mucosa cells showed nearly 6%. Mosaic aneuploidy in constitutional karyotype can be responsible for variation in clinical and morphological presentation of patient with genetic disorder.

  17. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe

    DEFF Research Database (Denmark)

    Loane, Maria; Morris, Joan K; Addor, Marie-Claude

    2013-01-01

    This study examines trends and geographical differences in total and live birth prevalence of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in Europe. Twenty-one population-based EUROCAT registries covering 6.1 million births between 1990 and 2009 participa...

  18. Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

    Directory of Open Access Journals (Sweden)

    Mohammed Al-Owain

    2010-01-01

    Full Text Available Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE. Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retardation, growth retardation, and heart and limb defects. We report a 12-year-old Saudi boy with mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical failure consistent with APECED. In addition, he has dysmorphic facial features, growth retardation, and severe global developmental delay. Patient had late development of chronic renal failure. The blastogenesis revealed depressed lymphocytes' response to Candida albicans at 38% when compared to control. Chromosome analysis of the patient revealed 46,XY,del(4(q33. FISH using a 4p/4q subtelomere DNA probe assay confirmed the deletion of qter subtelomere on chromosome 4. Parental chromosomes were normal. The deleted array was further defined using array CGH. AIRE full gene sequencing revealed a homozygous mutation namely 845_846insC. Renal biopsy revealed chronic interstitial nephritis with advanced fibrosis. In addition, there was mesangial deposition of C3, C1q, and IgM. This is, to the best of our knowledge, the first paper showing evidence of autoimmune nephropathy by renal immunofluorescence in a patient with APECED and terminal 4q deletion.

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

    Science.gov (United States)

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

    2011-11-01

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

  20. The 4q27 locus and prostate cancer risk

    International Nuclear Information System (INIS)

    Tindall, Elizabeth A; Hoang, Hoa N; Southey, Melissa C; English, Dallas R; Hopper, John L; Giles, Graham G; Severi, Gianluca; Hayes, Vanessa M

    2010-01-01

    Chronic inflammation is considered to be implicated in the development of prostate cancer. In this study we are the first to investigate a potential association between variants in an autoimmune related region on chromosome 4q27 and prostate cancer risk. This region harbors two cytokine genes IL-2 and the recently described IL-21. We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs13119723, rs17388568, rs3136534, rs6822844 and rs6840978) and one functional IL-2 promoter variant (rs2069762) for possible association with prostate cancer risk using the Australian Risk Factors for Prostate Cancer case-control Study. Overall, our results do not support an association between the seven variants at position 4q27 and prostate cancer risk. Per allele odds ratios (ORs) were not significantly different from 1 (all P-values = 0.06). However, we found suggestive evidence for a significant association between the presence of the rs13119723 variant (located in a protein of unknown function) and men with a family history of prostate cancer in first-degree relatives (P-value for interaction 0.02). The per allele OR associated with this variant was significantly higher than 1 (2.37; 95% C.I. = 1.01-5.57). We suggest that genetic variation within the chromosome 4q27 locus might be associated with prostate cancer susceptibility in men with a family history of the disease. Furthermore, our study alludes to a potential role of unknown protein KIAA1109 in conferring this risk

  1. Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromes

    Czech Academy of Sciences Publication Activity Database

    Vacík, Tomáš; Ort, Michael; Gregorová, Soňa; Strnad, P.; Conte, N.; Bradley, A.; Blatný, Radek; Bureš, Jan; Forejt, Jiří

    2005-01-01

    Roč. 102, č. 12 (2005), s. 4500-4505 ISSN 0027-8424 R&D Projects: GA ČR(CZ) GA309/03/0715 Grant - others:Howard Hughes Medical Institute(US) 55000306 Institutional research plan: CEZ:AV0Z5011922; CEZ:AV0Z50110509 Keywords : dosage-sensitive genes * Down's syndrome * mouse segmental trisomy Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 10.231, year: 2005

  2. Quadrupole terms in the Maxwell equations: Born energy, partial molar volume, and entropy of ions.

    Science.gov (United States)

    Slavchov, Radomir I; Ivanov, Tzanko I

    2014-02-21

    A new equation of state relating the macroscopic quadrupole moment density Q to the gradient of the field ∇E in an isotropic fluid is derived: Q = αQ(∇E - U∇·E/3), where the quadrupolarizability αQ is proportional to the squared molecular quadrupole moment. Using this equation of state, a generalized expression for the Born energy of an ion dissolved in quadrupolar solvent is obtained. It turns out that the potential and the energy of a point charge in a quadrupolar medium are finite. From the obtained Born energy, the partial molar volume and the partial molar entropy of a dissolved ion follow. Both are compared to experimental data for a large number of simple ions in aqueous solutions. From the comparison the value of the quadrupolar length LQ is determined, LQ = (αQ/3ɛ)(1/2) = 1-4 Å. Data for ion transfer from aqueous to polar oil solution are analyzed, which allowed for the determination of the quadrupolarizability of nitrobenzene.

  3. Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS).

    Science.gov (United States)

    Kohlschmidt, N; Zielinski, J; Brude, E; Schäfer, D; Olert, J; Hallermann, C; Coerdt, W; Arnemann, J

    2000-02-01

    Wolf-Hirschhorn Syndrome (WHS) is caused by distal deletion of the short arm of chromosome 4 and is characterized by growth deficiency, mental retardation, a distinctive, 'greek-helmet' facial appearance, microcephaly, ear lobe anomalies, and sacral dimples. We report a family with a balanced chromosomal translocation 4;18(p15.32;p11.21) in the father and an unbalanced translocation resulting in partial monosomy 4 and partial trisomy 18 in one living boy and a prenatally diagnosed male fetus. Both showed abnormalities consistent with WHS and had in addition aplasia of one umbilical artery. Karyotyping of another stillborn fetus revealed a supernumerary derivative chromosome der(18)t(4;18)(p15.32;p11.21) of paternal origin and two normal chromosomes 4. The umbilical cord had three normal vessels. A third stillborn fetus with the same balanced translocation as the father had a single umbilical artery and hygroma colli. Copyright 2000 John Wiley & Sons, Ltd.

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

    Science.gov (United States)

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

    2013-01-01

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

  5. Y-systems, Q-systems, and 4D N=2 supersymmetric QFT

    International Nuclear Information System (INIS)

    Cecotti, Sergio; Zotto, Michele Del

    2014-01-01

    We review the connection between Y- and Q-systems and the BPS spectra of 4D N=2 supersymmetric QFTs. For each finite BPS chamber of an N=2 model which is UV superconformal, one gets a periodic Y-system, while for each finite BPS chamber of an asymptotically-free N=2 QFT one gets a Q-system i.e. a rational recursion all whose solutions satisfy a linear recursion with constant coefficients (depending on the initial conditions). For instance, the classical ADE Y-systems of Zamolodchikov correspond to the ADE Argyres–Douglas N=2 SCFTs, while the usual ADE Q-systems correspond to pure N=2 SYM. After having motivated the correspondence both from the QFT and the thermodynamical Bethe ansatz sides, and having introduced the basic tricks of the trade, we exploit the connection to construct and solve new Y- and Q-systems. In particular, we present the new Y-systems associated to the E 6 , E 7 , E 8 Minahan–Nemeshanski SCFTs and to the D 2 (G) SCFTs. We also present new Q-systems corresponding to SYM coupled to specific matter systems such that the YM β-function remains negative. (review)

  6. Comparison of two immunoassay systems for hCGβ and PAPP-A in prenatal screening for trisomy 21, 18, and 13 in the first trimester

    Directory of Open Access Journals (Sweden)

    Anna Elise Engell

    2017-12-01

    Full Text Available Objectives: The biochemical serum markers free β-human chorionic gonadotropin (hCGβ and pregnancy associated plasma protein A (PAPP-A, used in screening for trisomy 21 (T21, trisomy 18 (T18, and trisomy 13 (T13 during the first trimester, can be measured on different laboratory instruments e.g. Kryptor (Brahms and Cobas (Roche. We compared the performance of these two analytical instruments when used for first trimester combined testing. Design and methods: Serum samples from 944 singleton pregnant women attending for first trimester combined testing were routinely assayed for hCGβ and PAPP-A on Kryptor, and re-analyzed on Cobas. In addition, serum samples from 70 pregnant women carrying a fetus affected by T21, T18 or T13, were re-assayed on Cobas. Results: For the screening population, the hCGβ and PAPP-A results in multiples of the median (MoM from Kryptor and Cobas were significantly lower on Cobas when compared to Kryptor. The number of pregnant women with a risk above 1:300 for T21 was 48 for both Cobas and Kryptor, although a few patients only had a high risk with one of the methods. Overall, the screen positive rate was 5.1% for both instruments. In the trisomy groups the calculated risks for T21, T18, and T13 agreed well between Cobas and Kryptor. Conclusions: The screen positive rate for T21 (5.1% did not differ between the two analytical platforms in our screening population, although PAPP-A measurements form Cobas were significantly lower than those from Kryptor. The calculated risks for the pregnancies affected by trisomies using hCGβ MoM and PAPP-A MoM from Kryptor agreed well with those from Cobas. Keywords: Aneuploidy, Combined first trimester screening, First trimester risk assessment, Free β-human chorionic gonadotropin (hCGβ, Pregnancy associated plasma protein-A (PAPP-A, Trisomy screening

  7. Theoretical investigations of the IO,{sup q+} (q = 2, 3, 4) multi-charged ions: Metastability, characterization and spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Hammami, H. [Université Paris-Est, Laboratoire Modélisation et Simulation Multi Echelle, MSME UMR 8208 CNRS, 5 bd Descartes, 77454 Marne-la-Vallée (France); EMIR, Institut Préparatoire aux Etudes d’Ingénieurs, Monastir (Tunisia); Yazidi, O. [Laboratoire de Spectroscopie Atomique Moléculaire et Applications, Département de Physique, Faculté des Sciences de Tunis, Université de Tunis-El Manar, Le Belvédère, 1060 Tunis (Tunisia); Ben El Hadj Rhouma, M. [EMIR, Institut Préparatoire aux Etudes d’Ingénieurs, Monastir (Tunisia); Al Mogren, M. M. [Chemistry Department, Faculty of Science, King Saud University, PO Box 2455, Riyadh 11451 (Saudi Arabia); Hochlaf, M., E-mail: hochlaf@univ-mlv.fr [Université Paris-Est, Laboratoire Modélisation et Simulation Multi Echelle, MSME UMR 8208 CNRS, 5 bd Descartes, 77454 Marne-la-Vallée (France)

    2014-07-07

    Using ab initio methodology, we studied the IO{sup q+} (q = 2, 3, 4) multi-charged ions. Benchmark computations on the IO(X{sup 2}Π) neutral species allow validate the current procedure. For IO{sup 2+}, several potential wells were found on the ground and the electronic excited states potentials with potential barriers with respect to dissociation, where this dication can exist in the gas phase as long-lived metastable molecules. We confirm hence the recent observation of the dication by mass spectrometry. Moreover, we predict the existence of the metastable IO{sup 3+} trication, where a shallow potential well along the IO internuclear distance is computed. This potential well supports more than 10 vibrational levels. The IO{sup 3+} excited states are repulsive in nature, as well as the computed potentials for the IO{sup 4+} tetracation. For the bound states, we give a set of spectroscopic parameters including excitation transition energies, equilibrium distances, harmonic and anharmonic vibrational terms, and rotational constants. At the MRCI + Q/aug-cc-pV5Z(-PP) level, the adiabatic double and triple ionization energies of IO are computed to be ∼28.1 eV and ∼55.0 eV, respectively.

  8. Optical polarimetry of Comet NEAT C/2001 Q4

    Science.gov (United States)

    Ganesh, S.; Joshi, U. C.; Baliyan, K. S.

    2009-06-01

    Comet NEAT C/2001 Q4 was observed for linear polarization using the optical polarimeter mounted at the 1.2 m telescope at Mt. Abu Observatory, during the months of May and June 2004. Observations were conducted through the International Halley Watch narrow band (continuum) and BVR broad band filters. During the observing run the phase angle ranged from 85.6° in May to 55° in June. As expected, polarization increases with wavelength in this phase angle range. Polarization colour in the narrow bands changes at different epochs, perhaps related to cometary activity or molecular emission contamination. The polarization was also measured in the cometary coma at different locations along a line, in the direction of the tail. As expected, we notice minor decrease in the polarization as photocenter (nucleus) is traversed while brightness decreases sharply away from it. Based on these polarization observations we infer that the Comet NEAT C/2001 Q4 has high polarization and a typical grain composition—mixture of silicates and organics.

  9. Q Vara likviidsusprobleem viis 4miljonilisse maksuvõlga

    Index Scriptorium Estoniae

    2007-01-01

    Kinnisvaraarendusega tegelev Q Vara võlgneb maksuametile üle nelja miljoni krooni. Ettevõtte juhi sõnul on tegemist ajutise likviidsusprobleemiga ning augusti lõpuks peaks võlg tasutud saama. Tabel: Q Vara grupi käive vähenes. Lisa: Taust. Vt. samas: Intervjuu Q Vara nõukogu esimehe Alo Lillepeaga

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

    Directory of Open Access Journals (Sweden)

    Rhea U. Vallente-Samonte

    2000-09-01

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

  11. The multiple ionization of helium induced by partially stripped carbon ions

    International Nuclear Information System (INIS)

    Cai Xiaohong; Chen Ximeng; Shen Ziyong

    1996-01-01

    The ratios of the double to single ionization cross sections of helium impacted by partially stripped C q+ ions (q = 1,2,3,4) in energy range of 1.5-7.5 MeV were measured by using the time of flight procedure. The n-body classical trajectory Monte Carlo calculation was carried out to get the Olson-Schlachter scaling. The single and double ionization cross sections of helium were obtained by comparing the cross section ratios of the present work with the Olson-Schlachter scaling

  12. Big Five Measurement via Q-Sort

    Directory of Open Access Journals (Sweden)

    Chris D. Fluckinger

    2014-08-01

    Full Text Available Socially desirable responding presents a difficult challenge in measuring personality. I tested whether a partially ipsative measure—a normatively scored Q-sort containing traditional Big Five items—would produce personality scores indicative of less socially desirable responding compared with Likert-based measures. Across both instructions to respond honestly and in the context of applying for a job, the Q-sort produced lower mean scores, lower intercorrelations between dimensions, and similar validity in predicting supervisor performance ratings to Likert. In addition, the Q-sort produced a more orthogonal structure (but not fully orthogonal when modeled at the latent level. These results indicate that the Q-sort method did constrain socially desirable responding. Researchers and practitioners should consider Big Five measurement via Q-sort for contexts in which high socially desirable responding is expected.

  13. Minimal Blocking Sets in PG(2, 8) and Maximal Partial Spreads in PG(3, 8)

    DEFF Research Database (Denmark)

    Barat, Janos

    2004-01-01

    We prove that PG(2, 8) does not contain minimal blocking sets of size 14. Using this result we prove that 58 is the largest size for a maximal partial spread of PG(3, 8). This supports the conjecture that q2-q+ 2 is the largest size for a maximal partial spread of PG(3, q), q>7....

  14. Anesthetic management of a newborn with trisomy 18 undergoing closure of patent ductus arteriosus and pulmonary artery banding.

    Science.gov (United States)

    Arun, Oguzha; Oc, Bahar; Oc, Mehmet; Duman, Ates

    2014-08-23

    Peri-operative management of infants with trisomy 18 syndrome is challenging due to various congenital cardiac and facial anomalies. We report the anaesthetic management of a 13-day-old neonate with 1 540 g body weight, undergoing closure of patent ductus arteriosus and pulmonary artery banding. Anaesthesia was induced with sevoflurane, fentanyl and rocuronium. Despite dysmorphic facial features, ventilation and endotracheal intubation were achieved uneventfully. Anaesthesia was maintained with sevoflurane and fentanyl and was uneventful. The patient was transferred to the neonatal ICU intubated and with ventilatory support. The baby was extubated on the second day postoperatively. Our knowledge of the proper anaesthetic technique for children undergoing palliative or corrective surgery is limited. Further case reports will increase our experience in peri-operative management of children with trisomy 18.

  15. First-trimester risk calculation for trisomy 13, 18, and 21: comparison of the screening efficiency between 2 locally developed programs and commercial software

    DEFF Research Database (Denmark)

    Sørensen, Steen; Momsen, Günther; Sundberg, Karin

    2011-01-01

    Reliable individual risk calculation for trisomy (T) 13, 18, and 21 in first-trimester screening depends on good estimates of the medians for fetal nuchal translucency thickness (NT), free β-subunit of human chorionic gonadotropin (hCGβ), and pregnancy-associated plasma protein-A (PAPP-A) in mate......Reliable individual risk calculation for trisomy (T) 13, 18, and 21 in first-trimester screening depends on good estimates of the medians for fetal nuchal translucency thickness (NT), free β-subunit of human chorionic gonadotropin (hCGβ), and pregnancy-associated plasma protein-A (PAPP...

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

    Directory of Open Access Journals (Sweden)

    Neal Sondheimer

    2017-09-01

    Full Text Available Coenzyme Q10 (CoQ10 or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired function of CoQ10–dependent complexes I, II and III. The recessively transmitted CoQ10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infantile, multisystemic presentation is usually caused by mutations in genes directly involved in CoQ10 biosynthesis. To date, mutations in COQ1 (PDSS1 and PDSS2, COQ2, COQ4, COQ6, COQ7, COQ8A/ADCK3, COQ8B/ADCK4, and COQ9 genes have been identified in patients with primary form of CoQ10 deficiency. Here we report novel mutations in the COQ4 gene, which were identified in an infant with profound mitochondrial disease presenting with perinatal seizures, hypertrophic cardiomyopathy and severe muscle CoQ10 deficiency.

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

    Science.gov (United States)

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

    2017-09-01

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

  18. Changing Paradigms in Down Syndrome : The First International Conference of the Trisomy 21 Research Society

    NARCIS (Netherlands)

    Delabar, Jean Maurice; Allinquant, Bernadette; Bianchi, Diana; Blumenthal, Tom; Dekker, Alain; Edgin, Jamie; O'Bryan, John; Dierssen, Mara; Potier, Marie Claude; Wiseman, Frances; Guedj, Faycal; Créau, Nicole; Reeves, Roger; Gardiner, Katheleen; Busciglio, Jorge

    2016-01-01

    Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) in humans with an incidence of ∼1:1,000 live births worldwide. It is caused by the presence of an extra copy of all or a segment of the long arm of human chromosome 21 (trisomy 21). People with DS present with a

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1997-05-01

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

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

    Science.gov (United States)

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

    2017-06-01

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

  1. On the q-exponential of matrix q-Lie algebras

    Directory of Open Access Journals (Sweden)

    Ernst Thomas

    2017-01-01

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

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

    Science.gov (United States)

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

    2017-05-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2015-04-25

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

  5. Neurocognitive Outcomes of Individuals with a Sex Chromosome Trisomy: XXX, XYY, or XXY--A Systematic Review

    Science.gov (United States)

    Leggett, Victoria; Jacobs, Patricia; Nation, Kate; Scerif, Gaia; Bishop, Dorothy V. M.

    2010-01-01

    Aim: To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs). Method: A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0. Results: We identified 35…

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

    Science.gov (United States)

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

    2011-12-01

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

  7. High power diode-pumped continuous wave and Q-switch operation of Tm,Ho:YVO4 laser

    International Nuclear Information System (INIS)

    Yao, B Q; Li, G; Meng, P B; Zhu, G L; Ju, Y L; Wang, Y Z

    2010-01-01

    High power diode-pumped continuous wave (CW) and Q-switch operation of Tm,Ho:YVO 4 laser is reported. Using two Tm,Ho:YVO 4 rods in a single cavity, up to 20.2 W of CW output lasing at 2054.7 nm was obtained under cryogenic temperature of 77 K with an optical to optical conversion efficiency of 32.9%. For Q-switch operation, up to 19.4 W of output was obtained under 15 kHz pulse repetition frequency (PRF) with a minimum pulse width of 24.2 ns. In addition, different pulse repetition frequencies of Q-switch operation with 10.0 kHz, 12.5 kHz and 15.0 kHz were investigated comparatively

  8. Small-molecule aggregation inhibitors reduce excess amyloid in a trisomy 16 mouse cortical cell line

    Directory of Open Access Journals (Sweden)

    ANDRÉA C PAULA LIMA

    2008-01-01

    Full Text Available We have previously characterized a number of small molecule organic compounds that prevent the aggregation of the β-amyloid peptide and its neurotoxicity in hippocampal neuronal cultures. We have now evaluated the effects of such compounds on amyloid precursor protein (APP accumulation in the CTb immortalized cell line derived from the cerebral cortex of a trisomy 16 mouse, an animal model of Down's syndrome. Compared to a non-trisomic cortical cell line (CNh, CTb cells overexpress APP and exhibit slightly elevated resting intracellular Ca2+ levéis ([Ca2+]¡. Here, we show that the compounds 2,4-dinitrophenol, 3-nitrophenol and 4-anisidine decreased intracellular accumulation of APP in CTb cells. Those compounds were non-toxic to the cells, and slightly increased the basal [Ca2+]¡. Results indícate that the compounds tested can be leads for the development of drugs to decrease intracellular vesicular accumulation of APP in trisomic cells.

  9. Construction and accuracy of partial differential equation approximations to the chemical master equation.

    Science.gov (United States)

    Grima, Ramon

    2011-11-01

    The mesoscopic description of chemical kinetics, the chemical master equation, can be exactly solved in only a few simple cases. The analytical intractability stems from the discrete character of the equation, and hence considerable effort has been invested in the development of Fokker-Planck equations, second-order partial differential equation approximations to the master equation. We here consider two different types of higher-order partial differential approximations, one derived from the system-size expansion and the other from the Kramers-Moyal expansion, and derive the accuracy of their predictions for chemical reactive networks composed of arbitrary numbers of unimolecular and bimolecular reactions. In particular, we show that the partial differential equation approximation of order Q from the Kramers-Moyal expansion leads to estimates of the mean number of molecules accurate to order Ω(-(2Q-3)/2), of the variance of the fluctuations in the number of molecules accurate to order Ω(-(2Q-5)/2), and of skewness accurate to order Ω(-(Q-2)). We also show that for large Q, the accuracy in the estimates can be matched only by a partial differential equation approximation from the system-size expansion of approximate order 2Q. Hence, we conclude that partial differential approximations based on the Kramers-Moyal expansion generally lead to considerably more accurate estimates in the mean, variance, and skewness than approximations of the same order derived from the system-size expansion.

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

    Science.gov (United States)

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

    2017-07-04

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

  11. The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

    Science.gov (United States)

    2018-01-10

    Klinefelter Syndrome; Trisomy X; XYY Syndrome; XXXY and XXXXY Syndrome; Xxyy Syndrome; Xyyy Syndrome; Xxxx Syndrome; Xxxxx Syndrome; Xxxyy Syndrome; Xxyyy Syndrome; Xyyyy Syndrome; Male With Sex Chromosome Mosaicism

  12. Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society.

    Science.gov (United States)

    Delabar, Jean-Maurice; Allinquant, Bernadette; Bianchi, Diana; Blumenthal, Tom; Dekker, Alain; Edgin, Jamie; O'Bryan, John; Dierssen, Mara; Potier, Marie-Claude; Wiseman, Frances; Guedj, Faycal; Créau, Nicole; Reeves, Roger; Gardiner, Katheleen; Busciglio, Jorge

    2016-10-01

    Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) in humans with an incidence of ∼1:1,000 live births worldwide. It is caused by the presence of an extra copy of all or a segment of the long arm of human chromosome 21 (trisomy 21). People with DS present with a constellation of phenotypic alterations involving most organs and organ systems. ID is present in all people with DS, albeit with variable severity. DS is also the most frequent genetic cause of Alzheimer's disease (AD), and ∼50% of those with DS will develop AD-related dementia. In the last few years, significant progress has been made in understanding the crucial genotype-phenotype relationships in DS, in identifying the alterations in molecular pathways leading to the various clinical conditions present in DS, and in preclinical evaluations of potential therapies to improve the overall health and well-being of individuals with DS. In June 2015, 230 scientists, advocates, patients, and family members met in Paris for the 1st International Conference of the Trisomy 21 Research Society. Here, we report some of the most relevant presentations that took place during the meeting.

  13. 75 FR 41871 - International Conference on Harmonisation; Draft Guidance on Q4B Evaluation and Recommendation of...

    Science.gov (United States)

    2010-07-19

    ... Pharmaceutical Industries Associations; the Japanese Ministry of Health, Labour, and Welfare; the Japanese... and Research, FDA; and the Pharmaceutical Research and Manufacturers of America. The ICH Secretariat... the Q4B process entitled ``Q4B Evaluation and Recommendation of Pharmaceutical Texts for Use in the...

  14. Neuropsychological and Behavioural Phenotype of Dandy-Walker Variant Presenting in Chromosome 22 Trisomy: A Case Study

    Science.gov (United States)

    Searson, Ruth; Hare, Dougal Julian; Sridharan, Sridhar

    2013-01-01

    In this study, a case of Dandy-Walker variant syndrome associated with trisomy 22 in a 17-year-old man is described. This is the first account of this combination in a person surviving into adulthood, and the neuropsychological and behavioural presentation is described in detail and a clinical formulation is presented for the benefit of…

  15. A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].

    Science.gov (United States)

    Krajewska-Walasek, M; Gutkowska, A; Mospinek-Krasnopolska, M; Chrzanowska, K

    1996-01-01

    We present a new case of 11p15 duplication (trisomy 11p15) in a boy (46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)] suffering from Beckwith-Wiedemann syndrome (BWS), whose phenotypically normal father carries a balanced translocation between chromosomes 11 and 21[46,XY, t(11;21)(p15.2;q22.3)]. The paternal grandmother has the same balanced translocation and is also clinically normal. BWS was suspected when the boy was 6 months old because of gigantism, macroglossia, visceromegaly, ear lobe creases and abdominal distention. Apart from the characteristic BWS phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high forehead with frontal upsweep of hair, wide central nose bridge, slightly beaked nose, chubby cheeks and severe mental retardation). So far, at least eight cases of 11p15 duplication have been described as patients with BWS. In six of these, the duplication was due to inheritance of a translocated or rearranged paternal chromosome. This was also the case in our patient. In the two other previously published cases, the 11p15 duplications were de novo, but in one of these, DNA analysis has subsequently shown that the duplication was of paternal origin. We discuss our observations in relation to the above-mentioned previous cases of 11p15 duplication and the possible role of genomic imprinting in the etiology of BWS.

  16. A Case of AML Characterized by a Novel t(4;15(q31;q22 Translocation That Confers a Growth-Stimulatory Response to Retinoid-Based Therapy

    Directory of Open Access Journals (Sweden)

    Justin M. Watts

    2017-07-01

    Full Text Available Here we report the case of a 30-year-old woman with relapsed acute myeloid leukemia (AML who was treated with all-trans retinoic acid (ATRA as part of investigational therapy (NCT02273102. The patient died from rapid disease progression following eight days of continuous treatment with ATRA. Karyotype analysis and RNA-Seq revealed the presence of a novel t(4;15(q31;q22 reciprocal translocation involving the TMEM154 and RASGRF1 genes. Analysis of primary cells from the patient revealed the expression of TMEM154-RASGRF1 mRNA and the resulting fusion protein, but no expression of the reciprocal RASGRF1-TMEM154 fusion. Consistent with the response of the patient to ATRA therapy, we observed a rapid proliferation of t(4;15 primary cells following ATRA treatment ex vivo. Preliminary characterization of the retinoid response of t(4;15 AML revealed that in stark contrast to non-t(4;15 AML, these cells proliferate in response to specific agonists of RARα and RARγ. Furthermore, we observed an increase in the levels of nuclear RARγ upon ATRA treatment. In summary, the identification of the novel t(4;15(q31;q22 reciprocal translocation opens new avenues in the study of retinoid resistance and provides potential for a new biomarker for therapy of AML.

  17. Defective prevention of immune precipitation in autoimmune diseases is independent of C4A*Q0

    Science.gov (United States)

    Arason, G J; Kolka, R; Hreidarsson, A B; Gudjonsson, H; Schneider, P M; Fry, L; Arnason, A

    2005-01-01

    Increased prevalence of C4 null alleles is a common feature of autoimmune diseases. We have shown previously that complement-dependent prevention of immune precipitation (PIP) is defective in patients with systemic lupus erythematosus (SLE), and correlated this defect with C4A*Q0 and low levels of the C4A isotype. To further clarify the role of C4A in the aetiology of SLE, we now extend our studies to other diseases which have been associated with C4A*Q0. The frequency of C4A*Q0 was increased in Icelandic patients with coeliac disease (0·50; P Grave's disease (0·30; P = 0·002) and insulin-dependent diabetes mellitus (0·23; P = 0·04) and in British patients with dermatitis herpetiformis (0·42; P = 0·002) and this was reflected in low levels of C4A. In spite of this, PIP was normal in these patients, and in marked contrast to our previous observations on connective tissue diseases, PIP measurements in these patient groups correlated more strongly with levels of C4B (r = 0·51, P = 0·0000004) than C4A. Patients with increased levels of anti-C1q antibodies had significantly lower PIP than patients without such antibodies (P cause of the PIP defect in autoimmune connective tissue disease. PMID:15932521

  18. Tracking Subtle Stereotypes of Children with Trisomy 21: From Facial-Feature-Based to Implicit Stereotyping

    OpenAIRE

    Enea-Drapeau , Claire; Carlier , Michèle; Huguet , Pascal

    2012-01-01

    International audience; BackgroundStigmatization is one of the greatest obstacles to the successful integration of people with Trisomy 21 (T21 or Down syndrome), the most frequent genetic disorder associated with intellectual disability. Research on attitudes and stereotypes toward these people still focuses on explicit measures subjected to social-desirability biases, and neglects how variability in facial stigmata influences attitudes and stereotyping.Methodology/Principal FindingsThe parti...

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

    Science.gov (United States)

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

    2016-06-01

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

  20. Cytogenetic and clinicobiological features of acute leukemia with stem cell phenotype: study of nine cases.

    Science.gov (United States)

    Cuneo, A; Ferrant, A; Michaux, J L; Bosly, A; Chatelain, B; Stul, M; Dal Cin, P; Dierlamm, J; Cassiman, J J; Hossfeld, D K; Castoldi, G; Van den Berghe, H

    1996-11-01

    Morphologic, immunologic, cytogenetic, and clinical features were studied in 9 cases of acute undifferentiated leukemia (AUL). These patients were unclassifiable by FAB criteria, they were CD34+ and did not express myeloid- or lymphoid-associated antigens (CD13, CD33, CD14, CD15, CD61, CD19, CD10, CD22, CD7, CD2, CD5, CD3). Clonal abnormalities were seen in 8 of 9 cases. Del(5q) as the sole anomaly was observed in 3 cases; +13 was the primary change in 3 cases, and isolated trisomy 12 was found in 1 patient. A complex karyotype with trisomy 12q, in association with del 17p and trisomy 21q was detected in 1 case. One patient with 5q- relapsed with refractory anemia with excess of blasts; the presence of dysgranulopoiesis and a few blasts with possible monocytoid morphology in the remaining 2 patients point to a "myeloid nature" of these leukemias. Analysis of cytologic features in our 3 patients with +13, in combination with previously reported cases, suggests the occurrence of immature stem cell involvement with limited differentiation potential, possibly more along the myeloid than the lymphoid lineage. The significance of trisomy 12q in this subset of leukemia remains elusive; some clues of minimal differentiation towards the myeloid lineage in our cases are provided by positivity for the CD117 (c-kit) antigen and by relapse with acute myeloid leukemia without maturation (M1) in one patient. We conclude that, with presently available diagnostic techniques, AUL is a rare subset of leukemia, in which cytogenetic changes are confined to a few chromosomes, with prevalent involvement of 5q and of chromosomes 13 and 12. Chromosome findings may be of value in clinical practice, especially in those cases with "myeloid-oriented" karyotype.

  1. Fine-mapping of qGW4.05, a major QTL for kernel weight and size in maize.

    Science.gov (United States)

    Chen, Lin; Li, Yong-xiang; Li, Chunhui; Wu, Xun; Qin, Weiwei; Li, Xin; Jiao, Fuchao; Zhang, Xiaojing; Zhang, Dengfeng; Shi, Yunsu; Song, Yanchun; Li, Yu; Wang, Tianyu

    2016-04-12

    Kernel weight and size are important components of grain yield in cereals. Although some information is available concerning the map positions of quantitative trait loci (QTL) for kernel weight and size in maize, little is known about the molecular mechanisms of these QTLs. qGW4.05 is a major QTL that is associated with kernel weight and size in maize. We combined linkage analysis and association mapping to fine-map and identify candidate gene(s) at qGW4.05. QTL qGW4.05 was fine-mapped to a 279.6-kb interval in a segregating population derived from a cross of Huangzaosi with LV28. By combining the results of regional association mapping and linkage analysis, we identified GRMZM2G039934 as a candidate gene responsible for qGW4.05. Candidate gene-based association mapping was conducted using a panel of 184 inbred lines with variable kernel weights and kernel sizes. Six polymorphic sites in the gene GRMZM2G039934 were significantly associated with kernel weight and kernel size. The results of linkage analysis and association mapping revealed that GRMZM2G039934 is the most likely candidate gene for qGW4.05. These results will improve our understanding of the genetic architecture and molecular mechanisms underlying kernel development in maize.

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

    Science.gov (United States)

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

    2017-07-01

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

  3. Identification and Partial Characterization of Potential FtsL and FtsQ Homologs of Chlamydia

    Directory of Open Access Journals (Sweden)

    Scot P Ouellette

    2015-11-01

    Full Text Available Chlamydia is amongst the rare bacteria that lack the critical cell division protein FtsZ. By annotation, Chlamydia also lacks several other essential cell division proteins including the FtsLBQ complex that links the early (e.g. FtsZ and late (e.g. FtsI/Pbp3 components of the division machinery. Here, we report chlamydial FtsL and FtsQ homologs. Ct271 aligned well with E. coli FtsL and shared sequence homology with it, including a predicted leucine-zipper like motif. Based on in silico modeling, we show that Ct764 has structural homology to FtsQ in spite of little sequence similarity. Importantly, ct271/ftsL and ct764/ftsQ are present within all sequenced chlamydial genomes and are expressed during the replicative phase of the chlamydial developmental cycle, two key characteristics for a chlamydial cell division gene. GFP-Ct764 localized to the division septum of dividing transformed chlamydiae, and, importantly, over-expression inhibited chlamydial development. Using a bacterial two-hybrid approach, we show that Ct764 interacted with other components of the chlamydial division apparatus. However, Ct764 was not capable of complementing an E. coli FtsQ depletion strain in spite of its ability to interact with many of the same division proteins as E. coli FtsQ, suggesting that chlamydial FtsQ may function differently. We previously proposed that Chlamydia uses MreB and other rod-shape determining proteins as an alternative system for organizing the division site and its apparatus. Chlamydial FtsL and FtsQ homologs expand the number of identified chlamydial cell division proteins and suggest that Chlamydia has likely kept the late components of the division machinery while substituting the Mre system for the early components.

  4. Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion.

    Science.gov (United States)

    Zahed, Laila; Sismani, Carolina; Ioannides, M; Saleh, Monzer; Koumbaris, G; Kenj, Mazen; Abdallah, Amal; Ayyache, Maya; Patsalis, Philippos

    2008-04-01

    We report on a 13-year-old female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y chromosome in 20% of the cells was also confirmed in skin fibroblast cultures. FISH analyses using Y centromere, SRY, subtelomere XpYp/XqYq, Y and 4 painting probes, confirmed the cytogenetic findings. High-resolution STS analyses using 40 markers covering the Y chromosome did not identify any deletion on the Y. However, de novo absence of the 4p subtelomeric region was noted by FISH, although this deletion was not revealed by Array-CGH at 1 Mb resolution, the last array clone being 0.35 or 1 Mb distal to the 4p FISH probe. The female phenotype of this patient must be due to the loss of the derivative Y chromosomes in some of her cells, especially the gonads, while the 4p subtelomeric deletion does not seem to contribute to her phenotype. Copyright 2008 Wiley-Liss, Inc.

  5. Magnetic fluctuations in UNi4B

    DEFF Research Database (Denmark)

    Mentink, S.A.M.; Mason, T.E.; Buyers, W.J.L.

    1997-01-01

    We investigate the magnetic fluctuation spectrum of the geometrically frustrated antiferromagnetic compound UNi4B, which partially orders below T-N = 20 K. An overdamped spin excitation is observed at the AF wave vector around 2.4 meV. Low-frequency, weakly Q-dependent inelastic scattering...

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

    Science.gov (United States)

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

    2012-07-01

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

  7. Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome

    Directory of Open Access Journals (Sweden)

    Ruixue Cao

    2015-01-01

    Full Text Available Background: Cornelia de Lange Syndrome (CdLS is a rare but severe clinically heterogeneous developmental disorder characterized by facial dysmorphia, growth and cognitive retardation, and abnormalities of limb development. Objectives: To determine the pathogenesis of a patient with CdLS. Methods: We studied a patient with CdLS by whole exome sequencing, karyotyping and Agilent CGH Array. The results were confirmed by quantitative real-time PCR analysis of the patient and her parents. Further comparison of our patient and cases with partially overlapping deletions retrieved from the literature and databases was undertaken. Results: Whole exome sequencing had excluded the mutation of cohesion genes such as NIPBL,SMC1A and SMC3. The result of karyotyping showed a deletion of chromosome 9q31.1-q32 and the result of Agilent CGH Array further displayed a 12.01-Mb region of deletion at chromosome bands 9q31.1-q32. Reported cases with the deletion of 9q31.1-q32 share similar features with our CdLS patient. One of the genes in the deleted region, SMC2, belongs to the Structural Maintenance of Chromosomes (SMC family and regulates gene expression and DNA repair. Conclusions: Patients carrying the deletion of 9q31.1-q32 showed similar phenotypes with CdLS.

  8. Quasi quantum group covariant q-oscillators

    International Nuclear Information System (INIS)

    Schomerus, V.

    1992-05-01

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

  9. Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report.

    Science.gov (United States)

    Engel, Barbara C; Podsakoff, Greg M; Ireland, Joanna L; Smogorzewska, E Monika; Carbonaro, Denise A; Wilson, Kathy; Shah, Ami; Kapoor, Neena; Sweeney, Mirna; Borchert, Mark; Crooks, Gay M; Weinberg, Kenneth I; Parkman, Robertson; Rosenblatt, Howard M; Wu, Shi-Qi; Hershfield, Michael S; Candotti, Fabio; Kohn, Donald B

    2007-01-15

    A patient with adenosine deaminase-deficient severe combined immune deficiency (ADA-SCID) was enrolled in a study of retroviral-mediated ADA gene transfer to bone marrow hematopoietic stem cells. After the discontinuation of ADA enzyme replacement, busulfan (75 mg/m2) was administered for bone marrow cytoreduction, followed by infusion of autologous, gene-modified CD34+ cells. The expected myelosuppression developed after busulfan but then persisted, necessitating the administration of untransduced autologous bone marrow back-up at day 40. Because of sustained pancytopenia and negligible gene marking, diagnostic bone marrow biopsy and aspirate were performed at day 88. Analyses revealed hypocellular marrow and, unexpectedly, evidence of trisomy 8 in 21.6% of cells. Trisomy 8 mosaicism (T8M) was subsequently diagnosed by retrospective analysis of a pretreatment marrow sample that might have caused the lack of hematopoietic reconstitution. The confounding effects of this preexisting marrow cytogenetic abnormality on the response to gene transfer highlights another challenge of gene therapy with the use of autologous hematopoietic stem cells.

  10. Maternal serum protein profile and immune response protein subunits as markers for non-invasive prenatal diagnosis of trisomy 21, 18, and 13

    KAUST Repository

    Narasimhan, Kothandaraman; Lin, SuLin; Tong, Terry; Baig, Sonia; Ho, Sherry; Sukumar, Ponnusamy; Biswas, Arijit; Hahn, Sinuhe; Bajic, Vladimir B.; Choolani, Mahesh A.

    2013-01-01

    (MALDI-TOF/TOF) and western blot, glyco proteins such as alpha-1-antitrypsin, apolipoprotein E, apolipoprotein H, and serum carrier protein transthyretin were identified as potential maternal serum markers for fetal trisomy condition. The identified

  11. Passively Q-switched self-frequency-doubled Nd3+:GdCa4O(BO3)3 laser

    International Nuclear Information System (INIS)

    Zhang, Xingyu; Zhao, Shengzhi; Wang, Qingpu; Zhang, Shujun; Sun, Lianke; Liu, Xunmin; Zhang, Shaojun; Chen, Huanchu

    2001-01-01

    The performance of a flash-lamp-pumped self-frequency-doubled Nd 3+ :GdCa 4 O(BO 3 ) 3 (Nd:GdCOB) laser that is passively Q switched with Cr 4+ :YAG saturable absorbers is demonstrated. The maximum 0.53-μm pulse energy obtained is 2.6 mJ, and the maximum peak intensity is 15 MW/cm2. The dependence of the pulse characteristics on the orientation of the saturable absorber and on the cavity length is measured. Meanwhile, the transversal distribution of the intracavity photon density is taken into account in the rate equations for an intracavity frequency-doubled passively Q-switched laser, and the solutions are used to account for the behavior of the passively Q-switched Nd:GdCOB laser. [copyright] 2001 Optical Society of America

  12. Formation of q bar q resonances in the bar NN system

    International Nuclear Information System (INIS)

    Ivanov, N.Ya.

    1995-01-01

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

  13. t(4;11 (q21;q23 in acute myeloid leukemia-M0 following treatment [EW92 Protocol] for Ewing's sarcoma Leucemia mielóide aguda-M0 com t(4;11 (q21;q23 após tratamento para sarcoma de Ewing com o protocolo EW92

    Directory of Open Access Journals (Sweden)

    Terezinha J. Marques Salles

    2004-01-01

    Full Text Available We report on a 7-year-old girl with Ewing's Sarcoma (ES who developed a poorly differentiated acute myeloid leukemia (AML-M0 20 months after beginning the EW92 protocol for the treatment of the primary tumor. She received a total dose of 1500 mg of etoposide, a tumor cumulative radiation dose of 35Gy and granulocyte colony-stimulating factor (G-CSF was as predicted in the protocol regimen. At onset of secondary malignancy her laboratorial analysis revealed immature blast cells characterized by CD34+/CD33-/a-MPO+ and a t(4;11(q21;q23 abnormality. This serious complication of ES treatment, which associates etoposide, irradiation and G-CSF schedule, should be weighed against its therapeutic benefits.Nós descrevemos o caso clínico de uma criança do sexo feminino, com 7 anos de idade, portadora de sarcoma de Ewing, que evoluiu com leucemia aguda mielóide pouco diferenciada (LMA-M0 após vinte meses de tratamento utilizando o protocolo EW92. Ela recebeu uma dose total de 1.500 mg de etoposídio, irradiação tumoral na dose total de 35G, e fator de estimulação de colônia granulocítica (G-CSF conforme programação do protocolo terapêutico. Os exames laboratoriais, por ocasião do diagnóstico da segunda malignidade, mostraram células blásticas imaturas caracterizadas pela expressão de CD34+/CD33-/aMPO+ e a translocação t(4;11 (q 21;q23. A exclusão do G-CSF nos esquemas terapêuticos que associam etoposídio e irradiação tumoral se justifica devido a esta séria complicação no tratamento do sarcoma de Ewing.

  14. Gastric low-grade MALT lymphoma, high-grade MALT lymphoma and diffuse large B cell lymphoma show different frequencies of trisomy

    NARCIS (Netherlands)

    Hoeve, M A; Gisbertz, I A; Schouten, H C; Schuuring, E; Bot, F J; Hermans, J; Hopman, A; Kluin, P M; Arends, J E; van Krieken, J H

    1999-01-01

    Gastric MALT lymphoma is a distinct entity related to Helicobacter pylori gastritis. Some studies suggest a role for trisomy 3 in the genesis of these lymphomas, but they mainly focused on low-grade MALT lymphoma. Gastric MALT lymphoma, however, comprises a spectrum from low- to high-grade cases.

  15. Soybean promising mutant lines super early maturity Q-298 and 4-Psj

    International Nuclear Information System (INIS)

    Arwin; Mulyana, H.I.; Tarmizi; Masrizal; Faozi, K.; Adie, M.

    2012-01-01

    One of the efforts to increase the national soybean (Glycine max L. Merr.) production is by growing super early maturity with high yielding varieties, so that the planting time can be shortened to fill out the cropping pattern of ''rice-rice-soybean''. Such varieties can be developed through mutation breeding method using γ ray irradiation. In this research the seeds of Tidar variety were irradiated by 200 Gy γ ray from 60 Co. Irradiated seeds were planted in the field and selections with emphasis on early maturing character were conducted in M 2 generation. Selected plants were purified to M 7 generation and selected pure mutant lines were subjected to preliminary and advanced yield trials. Based on these results 5 promising mutant lines were selected to continue in multi location yield trials. A set of lines for multi location yield trials consist of 14 lines included 5 mutant lines from this experiment, 5 lines from UNSUD, 3 national leading varieties, Argomulyo, Gorobogan, Burangrang, as national control varieties and Tidar as an original of mutant lines. Based on the result of multi location yield trials, 2 mutant lines, Q-298 dan 4-Psj, have significant high productivities compared to productivities of other lines and varieties. The growth duration of these lines were only 66 days and 68 days, respectively with average productivities were 2.41 tons / ha and 2.42 tons / ha, respectively. Index stability of Q-298 and 4-Psj mutant lines were 0.84 and 0.79, respectively, it means that the productivities of these two lines were stable in all tested locations. Based on the results, the Q-298 and 4-Psj mutant lines were proposed to be released as new varieties with the names of Gamasugen 1 and Gamasugen 2, respectively. (author)

  16. q-Deformed Kink solutions

    International Nuclear Information System (INIS)

    Lima, A.F. de

    2003-01-01

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

  17. The partial molar volume of BeSO4 in aqueous solutions

    International Nuclear Information System (INIS)

    Kuschel, F.; Seidel, J.

    1981-01-01

    The density of aqueous solutions of BeSO 4 has been measured as a function of the mole fraction in the range of 0.02487 x 10 -2 to 6.3082 x 10 -2 . From the results obtained the molar volume and partial molar volume have been calculated and the limiting value of the partial molar volume for Be 2+ was extrapolated in accordance with the Debye-Hueckel law

  18. High-Q plasmonic bottle microresonator

    Science.gov (United States)

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

    2014-03-01

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

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

    OpenAIRE

    Tamaki, Takashi; Sakai, Nobuyuki

    2011-01-01

    We explore stability of gravitating Q-balls with potential $V_4(\\phi)={m^2\\over2}\\phi^2-\\lambda\\phi^4+\\frac{\\phi^6}{M^2}$ via catastrophe theory, as an extension of our previous work on Q-balls with potential $V_3(\\phi)={m^2\\over2}\\phi^2-\\mu\\phi^3+\\lambda\\phi^4$. In flat spacetime Q-balls with $V_4$ in the thick-wall limit are unstable and there is a minimum charge $Q_{{\\rm min}}$, where Q-balls with $Q

  20. Q-switched Ho:YLF laser pumped by a Tm:GdVO4 laser.

    CSIR Research Space (South Africa)

    Esser, MJD

    2009-06-01

    Full Text Available The authors have, through careful analysis of spectroscopic data, designed and demonstrated a diode-end-pumped, quasicontinuous wave Tm:GdVO4 laser operating at 1892 nm in order to pump a Q-switched Ho:YLF laser. The Ho:YLF maximum output energy...

  1. Salt bridge as a gatekeeper against partial unfolding.

    Science.gov (United States)

    Hinzman, Mark W; Essex, Morgan E; Park, Chiwook

    2016-05-01

    Salt bridges are frequently observed in protein structures. Because the energetic contribution of salt bridges is strongly dependent on the environmental context, salt bridges are believed to contribute to the structural specificity rather than the stability. To test the role of salt bridges in enhancing structural specificity, we investigated the contribution of a salt bridge to the energetics of native-state partial unfolding in a cysteine-free version of Escherichia coli ribonuclease H (RNase H*). Thermolysin cleaves a protruding loop of RNase H(*) through transient partial unfolding under native conditions. Lys86 and Asp108 in RNase H(*) form a partially buried salt bridge that tethers the protruding loop. Investigation of the global stability of K86Q/D108N RNase H(*) showed that the salt bridge does not significantly contribute to the global stability. However, K86Q/D108N RNase H(*) is greatly more susceptible to proteolysis by thermolysin than wild-type RNase H(*) is. The free energy for partial unfolding determined by native-state proteolysis indicates that the salt bridge significantly increases the energy for partial unfolding by destabilizing the partially unfolded form. Double mutant cycles with single and double mutations of the salt bridge suggest that the partially unfolded form is destabilized due to a significant decrease in the interaction energy between Lys86 and Asp108 upon partial unfolding. This study demonstrates that, even in the case that a salt bridge does not contribute to the global stability, the salt bridge may function as a gatekeeper against partial unfolding that disturbs the optimal geometry of the salt bridge. © 2016 The Protein Society.

  2. Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation

    International Nuclear Information System (INIS)

    Ostlund, Cecilia; Guan, Tinglu; Figlewicz, Denise A.; Hays, Arthur P.; Worman, Howard J.; Gerace, Larry; Schirmer, Eric C.

    2009-01-01

    Muscular dystrophy and peripheral neuropathy have been linked to mutations in genes encoding nuclear envelope proteins; however, the molecular mechanisms underlying these disorders remain unresolved. Nuclear envelope protein p19A is a protein of unknown function encoded by a gene at chromosome 4q35. p19A levels are significantly reduced in human muscle as cells differentiate from myoblasts to myotubes; however, its levels are not similarly reduced in all differentiation systems tested. Because 4q35 has been linked to facioscapulohumeral muscular dystrophy (FSHD) and some adjacent genes are reportedly misregulated in the disorder, levels of p19A were analyzed in muscle samples from patients with FSHD. Although p19A was increased in most cases, an absolute correlation was not observed. Nonetheless, p19A downregulation in normal muscle differentiation suggests that in the cases where its gene is inappropriately re-activated it could affect muscle differentiation and contribute to disease pathology.

  3. Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation

    Energy Technology Data Exchange (ETDEWEB)

    Ostlund, Cecilia [Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032 (United States); Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032 (United States); Guan, Tinglu [Department of Cell Biology, Scripps Research Institute, La Jolla, CA 92037 (United States); Figlewicz, Denise A. [Department of Neurology, University of Michigan, Ann Arbor, MI 48109 (United States); Hays, Arthur P. [Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032 (United States); Worman, Howard J. [Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032 (United States); Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032 (United States); Gerace, Larry [Department of Cell Biology, Scripps Research Institute, La Jolla, CA 92037 (United States); Schirmer, Eric C., E-mail: e.schirmer@ed.ac.uk [Department of Cell Biology, Scripps Research Institute, La Jolla, CA 92037 (United States); Wellcome Trust Centre for Cell Biology, University of Edinburgh, Edinburgh EH9 3JR (United Kingdom)

    2009-11-13

    Muscular dystrophy and peripheral neuropathy have been linked to mutations in genes encoding nuclear envelope proteins; however, the molecular mechanisms underlying these disorders remain unresolved. Nuclear envelope protein p19A is a protein of unknown function encoded by a gene at chromosome 4q35. p19A levels are significantly reduced in human muscle as cells differentiate from myoblasts to myotubes; however, its levels are not similarly reduced in all differentiation systems tested. Because 4q35 has been linked to facioscapulohumeral muscular dystrophy (FSHD) and some adjacent genes are reportedly misregulated in the disorder, levels of p19A were analyzed in muscle samples from patients with FSHD. Although p19A was increased in most cases, an absolute correlation was not observed. Nonetheless, p19A downregulation in normal muscle differentiation suggests that in the cases where its gene is inappropriately re-activated it could affect muscle differentiation and contribute to disease pathology.

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

    International Nuclear Information System (INIS)

    Tamaki, Takashi; Sakai, Nobuyuki

    2011-01-01

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

  5. Array-based genomic screening at diagnosis and during follow-up in chronic lymphocytic leukemia

    DEFF Research Database (Denmark)

    Gunnarsson, Rebeqa; Mansouri, Larry; Isaksson, Anders

    2011-01-01

    High-resolution genomic microarrays enable simultaneous detection of copy-number aberrations such as the known recurrent aberrations in chronic lymphocytic leukemia [del(11q), del(13q), del(17p) and trisomy 12], and copy-number neutral loss of heterozygosity. Moreover, comparison of genomic...

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

    Directory of Open Access Journals (Sweden)

    Danielle eKamato

    2015-03-01

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

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

    Science.gov (United States)

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

    1995-01-01

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

  8. A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis.

    Directory of Open Access Journals (Sweden)

    Luis M Real

    Full Text Available BACKGROUND: Non-hereditary colorectal cancer (CRC is a complex disorder resulting from the combination of genetic and non-genetic factors. Genome-wide association studies (GWAS are useful for identifying such genetic susceptibility factors. However, the single loci so far associated with CRC only represent a fraction of the genetic risk for CRC development in the general population. Therefore, many other genetic risk variants alone and in combination must still remain to be discovered. The aim of this work was to search for genetic risk factors for CRC, by performing single-locus and two-locus GWAS in the Spanish population. RESULTS: A total of 801 controls and 500 CRC cases were included in the discovery GWAS dataset. 77 single nucleotide polymorphisms (SNPs from single-locus and 243 SNPs from two-locus association analyses were selected for replication in 423 additional CRC cases and 1382 controls. In the meta-analysis, one SNP, rs3987 at 4q26, reached GWAS significant p-value (p = 4.02×10(-8, and one SNP pair, rs1100508 CG and rs8111948 AA, showed a trend for two-locus association (p = 4.35×10(-11. Additionally, our GWAS confirmed the previously reported association with CRC of five SNPs located at 3q36.2 (rs10936599, 8q24 (rs10505477, 8q24.21(rs6983267, 11q13.4 (rs3824999 and 14q22.2 (rs4444235. CONCLUSIONS: Our GWAS for CRC patients from Spain confirmed some previously reported associations for CRC and yielded a novel candidate risk SNP, located at 4q26. Epistasis analyses also yielded several novel candidate susceptibility pairs that need to be validated in independent analyses.

  9. Passively Q-switched mode-locked Nd3+:LuVO4 laser by LT-GaAs saturable absorber

    International Nuclear Information System (INIS)

    Li, M; Zhao, S; Li, Y; Yang, K; Li, G; Li, D; An, J; Li, T; Yu, Z

    2009-01-01

    By using LT-GaAs as saturable absorber, we have demonstrated the stable Q-switched and mode-locked (QML) Nd:LuVO 4 laser run in a Z-type folded cavity. Nearly 100% modulation depth of mode locking can be obtained as long as the pump power reaches the oscillation threshold. The repetition rate of the passively Q-switched pulse envelops ranges from 37.5 to 139 kHz as the pump power increased from 1.7 to 8.2 W. The mode-locked pulse inside the Q-switched envelop has an estimated pulse width of about 220 ps and a repetition rate of 111 MHz. Under an incident pump power of 8.2 W, the highest pulse energy of 6 μJ of each Q-switched envelope, and the highest peak power about 2.73 kW of Q-switched mode-locked pulses can be obtained

  10. Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

    Directory of Open Access Journals (Sweden)

    Jie Hu

    2011-01-01

    Full Text Available We characterized three supernumerary marker chromosomes (SMCs simultaneously present in a 2-year- and 10-month-old male patient with mental retardation and dysmorphic features. Peripheral blood chromosome analysis revealed two to three SMCs in 25/26 cells analyzed. The remaining one cell had one SMC. Microarray comparative genomic hybridization (aCGH showed mosaicism for gains of 5q35.3, 15q11.2q13.3, and 18p11.21q11.1 regions. All three gains contain multiple OMIM genes. FISH studies indicated that one of the SMCs is a dicentric ring 15 with two copies of the 15q11.2q13.3 region including SNRPN/UBE3A and two copies of the 5q35.3 region. One of the der(18s contains the 18 centromere and 18p11.2 regions, while the other der(18 has a signal for the 18 centromere only. The phenotype of the patient is compared with that of patients with tetrasomy 15q11.2q13.3, trisomy 5q35.3, and trisomy 18p11.2. Our study demonstrates that aCGH and FISH analyses are powerful tools, which complement the conventional cytogenetic analysis for the identification of SMCs.

  11. Chromosomal localization of the gonadotropin-releasing hormone receptor gene to human chromosome 4q13. 1-q21. 1 and mouse chromosome 5

    Energy Technology Data Exchange (ETDEWEB)

    Kaiser, U.B.; Dushkin, H.; Beier, D.R.; Chin, W.W. (Harvard Medical School, Boston, MA (United States)); Altherr, M.R. (Los Alamos National Lab., NM (United States))

    1994-04-01

    The gonadotropin-releasing hormone receptor (GRHR) is a G-protein-coupled receptor on the cell surface of pituitary gonadotropes, where it serves to transduce signals from the extracellular ligand, the hypothalamic factor gonadotropin-releasing hormone, and to modulate the synthesis and secretion of luteinizing hormone and follicle-stimulating hormone. The authors have localized the GRHR gene to the q13.1-q21.1 region of the human chromosome 4 using mapping panels of human/rodent somatic cell hybrids containing different human chromosomes or different regions of human chromosome 4. Furthermore, using linkage analysis of single-strand conformational polymorphisms, the murine GRHR gene was localized to mouse chromosome 5, linked to the endogenous retroviral marker Pmv-11. This is consistent with the evolutionary conservation of homology between these two regions, as has been previously suggested from comparative mapping of several other loci. The localization of the GRHR gene may be useful in the study of disorders of reproduction. 22 refs., 2 figs.

  12. Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice.

    Science.gov (United States)

    Starbuck, John M; Dutka, Tara; Ratliff, Tabetha S; Reeves, Roger H; Richtsmeier, Joan T

    2014-08-01

    Trisomy 21 results in gene-dosage imbalance during embryogenesis and throughout life, ultimately causing multiple anomalies that contribute to the clinical manifestations of Down syndrome. Down syndrome is associated with manifestations of variable severity (e.g., heart anomalies, reduced growth, dental anomalies, shortened life-span). Craniofacial dysmorphology and cognitive dysfunction are consistently observed in all people with Down syndrome. Mouse models are useful for studying the effects of gene-dosage imbalance on development. We investigated quantitative changes in the skull and brain of the Dp(16)1Yey Down syndrome mouse model and compared these mice to Ts65Dn and Ts1Cje mouse models. Three-dimensional micro-computed tomography images of Dp(16)1Yey and euploid mouse crania were morphometrically evaluated. Cerebellar cross-sectional area, Purkinje cell linear density, and granule cell density were evaluated relative to euploid littermates. Skulls of Dp(16)1Yey and Ts65Dn mice displayed similar changes in craniofacial morphology relative to their respective euploid littermates. Trisomy-based differences in brain morphology were also similar in Dp(16)1Yey and Ts65Dn mice. These results validate examination of the genetic basis for craniofacial and brain phenotypes in Dp(16)1Yey mice and suggest that they, like Ts65Dn mice, are valuable tools for modeling the effects of trisomy 21 on development. © 2014 Wiley Periodicals, Inc.

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

    Institute of Scientific and Technical Information of China (English)

    崔莹; 陈晓林; 邓卫真; 朱世琳

    2007-01-01

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

  14. Effects of q and high beta on tokamak stability

    International Nuclear Information System (INIS)

    Brickhouse, N.S.; Callen, J.D.; Dexter, R.N.

    1984-08-01

    In the Columbia University Torus II tokamak plasmas have been studied with volume averaged toroidal beta values as high as 15%. Experimental equilibria have been compared with a 2D free boundary MHD equilibrium code PSEC. The stability of these equilibria has been computed using PEST, the predictions of which are compatible with an observed instability in Torus II which may be characterized as a high toroidal mode number ballooning fluctuation. In the University of Wisconsin Tokapole II tokamak disruptive instability behavior is investigated, with plasma able to be confined on closed magnetic surfaces in the scrape-off region, as the cylindrical edge safety factor is varied from q approx. 3 to q approx. 0.5. It is observed that at q/sub a/ approx. 3 major disruption activity occurs without current terminations, at q/sub a/ less than or equal to 2 well-confined plasmas are obtained without major disruption, and at q/sub a/ approx. 0.5 only partial reconnection accompanies minor disruptions

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

    Directory of Open Access Journals (Sweden)

    Slater Howard R

    2005-05-01

    Full Text Available Abstract Background Prader-Willi syndrome (MIM #176270; PWS is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deletions, maternal uniparental disomy or mutations involving the imprinting center. De novo balanced reciprocal translocations in 5 reported individuals had breakpoints clustering in SNRPN intron 2 or exon 20/intron 20. To further dissect the PWS phenotype and define the minimal critical region for PWS features, we have studied a 22 year old male with a milder PWS phenotype and a de novo translocation t(4;15(q27;q11.2. Methods We used metaphase FISH to narrow the breakpoint region and molecular analyses to map the breakpoints on both chromosomes at the nucleotide level. The expression of genes on chromosome 15 on both sides of the breakpoint was determined by RT-PCR analyses. Results Pertinent clinical features include neonatal hypotonia with feeding difficulties, hypogonadism, short stature, late-onset obesity, learning difficulties, abnormal social behavior and marked tolerance to pain, as well as sticky saliva and narcolepsy. Relative macrocephaly and facial features are not typical for PWS. The translocation breakpoints were identified within SNRPN intron 17 and intron 10 of a spliced non-coding transcript in band 4q27. LINE and SINE sequences at the exchange points may have contributed to the translocation event. By RT-PCR of lymphoblasts and fibroblasts, we find that upstream SNURF/SNRPN exons and snoRNAs HBII-437 and HBII-13 are expressed, but the downstream snoRNAs PWCR1/HBII-85 and HBII-438A/B snoRNAs are not. Conclusion As part of the PWCR1/HBII-85 snoRNA cluster is highly conserved between human and mice, while no copy of HBII-438 has been found in mouse, we conclude that PWCR1/HBII-85 snoRNAs is likely to play a major role in the PWS- phenotype.

  16. WATER PRODUCTION IN COMETS 2001 Q4 (NEAT) AND 2002 T7 (LINEAR) DETERMINED FROM SOHO/SWAN OBSERVATIONS

    International Nuclear Information System (INIS)

    Combi, M. R.; Lee, Y.; Maekinen, J. T. T.; Bertaux, J.-L.; Quemerais, E.

    2009-01-01

    The SWAN all-sky camera on the Solar and Heliospheric Observatory (SOHO) spacecraft detected the hydrogen Lyman-alpha (Lyα) comae of comets 2001 Q4 NEAT and 2002 T7 LINEAR for large portions of their perihelion apparitions in 2003 and 2004. C/2001 Q4 NEAT was observed from 2003 September 14 through 2004 November 2, covering heliocentric distances from 3.23 AU before perihelion to 2.75 AU after, and C/2002 T7 LINEAR was observed from 2003 December 4 through 2004 August 6, covering heliocentric distances from 2.52 AU before perihelion to 2.09 AU after. We combined the full set of comet specific and full-sky observations and used our time-resolved model (TRM), which enables us to extract continuous values of the daily-average value of the water production rate throughout most of this entire period. The average power-law fit to the production rate variation of C/2001 Q4 NEAT with heliocentric distance, r, gives 3.5 x 10 29 r -1.7 and that for C/2002 T7 LINEAR gives 4.6 x 10 29 r -2.0 . Both comets show roughly a factor of 2 asymmetry in activity about perihelion, being more active before perihelion. C/2001 Q4 NEAT showed a production rate outburst about 30 days before perihelion (2004 April 15) and then a large extended increase above the nominal trend from 50 to 70 days after perihelion (2004 July 5-July 25).

  17. Simultaneous Q-switching and mode-locking in an intracavity frequency doubled diode-pumped Nd:YVO4 / KTP green laser with Cr4+:YAG

    International Nuclear Information System (INIS)

    Mukhopadhyay, P. K.; Ranganathan, K.; George, J.; Nathan, T. P. S.; Alsous, M. B.

    2007-01-01

    We report intracavity second harmonic (at 532 nm) generation in passively Q-switched mode-locked Nd: YVO4 laser. The width of a typical Q-switched envelope of the mode locked pulses for the green laser was around 65 ± 5 ns and the repetition rate for the mode locked pulses was 400 MHz. The intracavity frequency doubling significantly improves the depth of modulation of the mode locked pulses. The peak power of a single mode locked green pulse near the center of the Q-switched envelope was estimated to be more than 2kw and the average green power was 6 times higher than the CW green power at an incident diode pump power of 6W. (author)

  18. RecQ Helicases

    DEFF Research Database (Denmark)

    Larsen, Nicolai Balle; Hickson, Ian D

    2013-01-01

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

  19. Diode pumped actively Q-switched Nd:YVO4 self-Raman laser

    International Nuclear Information System (INIS)

    Su Fufang; Zhang Xingyu; Wang Qingpu; Ding Shuanghong; Jia Peng; Li Shutao; Fan Shuzhen; Zhang Chen; Liu Bo

    2006-01-01

    By using Nd:YVO 4 as the gain medium and the Raman medium simultaneously, the actively Q-switched operation of the self-Raman Nd:YVO 4 laser at 1176 nm was realized. The output characteristics including the average power, pulse energy and pulse width versus the incident pump power and pulse repetition rate were investigated. At a pulse repetition rate of 20 kHz an average power up to 0.57 W was obtained with the incident pump power of 10.2 W, corresponding to a conversion efficiency of 5.6% with respect to the diode laser input power. Meanwhile, an analysis of the self-Raman Nd:YVO 4 laser was carried out by using the rate equations. The obtained theoretical results were in agreement with the experimental results on the whole

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

    Directory of Open Access Journals (Sweden)

    Ivyna Bong Pau Ni

    2012-09-01

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

  1. Electroexcitation of the Roper resonance for 1.7 < Q**2 < 4.5 -GeV2 in vec-ep ---> en pi+

    Energy Technology Data Exchange (ETDEWEB)

    Aznauryan, Inna; Burkert, Volker; Kim, Wooyoung; Park, Kil; Adams, Gary; Amaryan, Moscov; Amaryan, Moskov; Ambrozewicz, Pawel; Anghinolfi, Marco; Asryan, Gegham; Avagyan, Harutyun; Bagdasaryan, H.; Baillie, Nathan; Ball, J.P.; Ball, Jacques; Baltzell, Nathan; Barrow, Steve; Batourine, V.; Battaglieri, Marco; Bedlinskiy, Ivan; Bektasoglu, Mehmet; Bellis, Matthew; Benmouna, Nawal; Berman, Barry; Biselli, Angela; Blaszczyk, Lukasz; Bonner, Billy; Bookwalter, Craig; Bouchigny, Sylvain; Boyarinov, Sergey; Bradford, Robert; Branford, Derek; Briscoe, Wilbert; Brooks, William; Bultmann, S.; Bueltmann, Stephen; Butuceanu, Cornel; Calarco, John; Careccia, Sharon; Carman, Daniel; Casey, Liam; Cazes, Antoine; Chen, Shifeng; Cheng, Lu; Cole, Philip; Collins, Patrick; Coltharp, Philip; Cords, Dieter; Corvisiero, Pietro; Crabb, Donald; Crede, Volker; Cummings, John; Dale, Daniel; Dashyan, Natalya; De Masi, Rita; De Vita, Raffaella; De Sanctis, Enzo; Degtiarenko, Pavel; Denizli, Haluk; Dennis, Lawrence; Deur, Alexandre; Dhamija, Seema; Dharmawardane, Kahanawita; Dhuga, Kalvir; Dickson, Richard; Djalali, Chaden; Dodge, Gail; Donnelly, J.; Doughty, David; Dugger, Michael; Dytman, Steven; Dzyubak, Oleksandr; Egiyan, Hovanes; Egiyan, Kim; Elfassi, Lamiaa; Elouadrhiri, Latifa; Eugenio, Paul; Fatemi, Renee; Fedotov, Gleb; Feldman, Gerald; Feuerbach, Robert; Forest, Tony; Fradi, Ahmed; Funsten, Herbert; Gabrielyan, Marianna; Garcon, Michel; Gavalian, Gagik; Gevorgyan, Nerses; Gilfoyle, Gerard; Giovanetti, Kevin; Girod, Francois-Xavier; Goetz, John; Gohn, Wesley; Golovach, Evgeny; Gonenc, Atilla; Gordon, Christopher; Gothe, Ralf; Graham, L.; Griffioen, Keith; Guidal, Michel; Guillo, Matthieu; Guler, Nevzat; Guo, Lei; Gyurjyan, Vardan; Hadjidakis, Cynthia; Hafidi, Kawtar; Hafnaoui, Khadija; Hakobyan, Hayk; Hakobyan, Rafael; Hanretty, Charles; Hardie, John; Hassall, Neil; Heddle, David; Hersman, F.; Hicks, Kenneth; Hleiqawi, Ishaq; Holtrop, Maurik; Hyde, Charles; Ilieva, Yordanka; Ireland, David; Ishkhanov, Boris; Isupov, Evgeny; Ito, Mark; Jenkins, David; Jo, Hyon-Suk; Johnstone, John; Joo, Kyungseon; Juengst, Henry; Kalantarians, Narbe; Keller, Dustin; Kellie, James; Khandaker, Mahbubul; Kim, Kui; Klein, Andreas; Klein, Andreas; Klimenko, Alexei; Kossov, Mikhail; Krahn, Zebulun; Kramer, Laird; Kubarovsky, Valery; Kuhn, Joachim; Kuhn, Sebastian; Kuleshov, Sergey; Kuznetsov, Viacheslav; Lachniet, Jeff; Laget, Jean; Langheinrich, Jorn; Lawrence, Dave; Lee, T.; Lima, Ana; Livingston, Kenneth; Lu, Haiyun; Lukashin, Konstantin; MacCormick, Marion; Markov, Nikolai; Mattione, Paul; McAleer, Simeon; McKinnon, Bryan; McNabb, John; Mecking, Bernhard; Mehrabyan, Surik; Melone, Joseph; Mestayer, Mac; Meyer, Curtis; Mibe, Tsutomu; Mikhaylov, Konstantin; Minehart, Ralph; Mirazita, Marco; Miskimen, Rory; Mokeev, Viktor; Morand, Ludyvine; Moreno, Brahim; Moriya, Kei; Morrow, Steven; Moteabbed, Maryam; Mueller, James; Munevar Espitia, Edwin; Mutchler, Gordon; Nadel-Turonski, Pawel; Nasseripour, Rakhsha; Niccolai, Silvia; Niculescu, Gabriel; Niculescu, Maria-Ioana; Niczyporuk, Bogdan; Niroula, Megh; Niyazov, Rustam; Nozar, Mina; O' Rielly, Grant; Osipenko, Mikhail; Ostrovidov, Alexander; Park, S.; Pasyuk, Evgueni; Paterson, Craig; Anefalos Pereira, S.; Philips, Sasha; Pierce, Jerome; Pivnyuk, Nikolay; Pocanic, Dinko; Pogorelko, Oleg; Polli, Ermanno; Popa, Iulian; Pozdnyakov, Sergey; Preedom, Barry; Price, John; Prok, Yelena; Protopopescu, Dan; Qin, Liming; Raue, Brian; Riccardi, Gregory; Ricco, Giovanni; Ripani, Marco; Ritchie, Barry; Rosner, Guenther; Rossi, Patrizia; Rowntree, David; Rubin, Philip; Sabatie, Franck; Saini, Mukesh; Salamanca, Julian; Salgado, Carlos; Santoro, Joseph; Sapunenko, Vladimir; Schott, Diane; Schumacher, Reinhard; Serov, Vladimir; Sharabian, Youri; Sharov, Dmitri; Shaw, J.; Shvedunov, Nikolay; Skabelin, Alexander; Smith, Elton; Smith, Lee; Sober, Daniel; Sokhan, Daria; Stavinskiy, Aleksey; Stepanyan, Samuel; Stepanyan, Stepan; Stokes, Burnham

    2008-10-01

    DOI: http://dx.doi.org/10.1103/PhysRevC.78.045209
    The helicity amplitudes of the electroexcitation of the Roper resonance are extracted for 1.7 < Q2 < 4.5 GeV2 from recent high precision JLab-CLAS cross section and longitudinally polarized beam asymmetry data for pi+ 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 results. It is found that the transverse helicity amplitude A_{1/2} for the gamma* p -> N(1440)P11 transition, which is large and negative at Q2=0, becomes large and positive at Q2 ~ 2 GeV2, and then drops slowly with Q2. The longitudinal helicity amplitude S_{1/2}, which was previously found from CLAS ep -> eppi0,enpi+ data to be large and positive at Q2=0.4,0.65 GeV2, drops with Q2. Available model predictions for gamma* 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

  2. Multivariate analysis of anxiety disorders yields further evidence of linkage to chromosomes 4q21 and 7p in panic disorder families.

    Science.gov (United States)

    Logue, Mark W; Bauver, Sarah R; Knowles, James A; Gameroff, Marc J; Weissman, Myrna M; Crowe, Raymond R; Fyer, Abby J; Hamilton, Steven P

    2012-04-01

    Replication has been difficult to achieve in linkage studies of psychiatric disease. Linkage studies of panic disorder have indicated regions of interest on chromosomes 1q, 2p, 2q, 3, 7, 9, 11, 12q13, 12q23, and 15. Few regions have been implicated in more than one study. We examine two samples, the Iowa (IA) and the Columba panic disorder families. We use the fuzzy-clustering method presented by Kaabi et al. [Kaabi et al. (2006); Am J Hum Genet 78: 543-553] to summarize liability to panic disorder, agoraphobia, simple phobia, and social phobia. Kaabi et al. applied this method to the Yale panic disorder linkage families and found evidence of linkage to chromosomes 4q21, 4q32, 7p, and 8. When we apply the same method to the IA families, we obtain overlapping evidence of linkage to chromosomes 4q21 and 7p. Additionally, we find evidence of linkage on chromosomes 1, 5, 6, 16, and 22. The Columbia (CO) data does not indicate linkage to any of the Kaabi et al. peaks, instead implicating chromosomes 2 and 22q11 (2 Mb from COMT). There is some evidence of overlapping linkage between the IA and CO datasets on chromosomes 1 and 14. While use of fuzzy clustering has not produced complete concordance across datasets, it has produced more than previously seen in analyses of panic disorder proper. We conclude that chromosomes 4q21 and 7p should be considered strong candidate regions for panic and fear-associated anxiety disorder loci. More generally, this suggests that analyses including multiple aspects of psychopathology may lead to greater consistency across datasets. Copyright © 2012 Wiley Periodicals, Inc.

  3. miR expression in MYC-negative DLBCL/BL with partial trisomy 11 is similar to classical Burkitt lymphoma and different from diffuse large B-cell lymphoma.

    Science.gov (United States)

    Zajdel, Michalina; Rymkiewicz, Grzegorz; Chechlinska, Magdalena; Blachnio, Katarzyna; Pienkowska-Grela, Barbara; Grygalewicz, Beata; Goryca, Krzysztof; Cieslikowska, Maria; Bystydzienski, Zbigniew; Swoboda, Pawel; Walewski, Jan; Siwicki, Jan Konrad

    2015-07-01

    Fast and reliable differential diagnosis of Burkitt lymphoma (BL) vs. diffuse large B cell lymphoma (DLBCL) is of major importance for therapeutic decisions and patient outcome. Aggressive B cell non-Hodgkin lymphomas (B-NHLs) that do not belong to the abovementioned entities were categorized by the current WHO lymphoma classification as "B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and BL" (DLBCL/BL). We have recently described a DLBCL/BL subgroup with recurrent chromosome 11q aberrations, resembling BL (B-NHLs[11q]). Here, we analyzed 102 prospectively collected fine needle aspirates from patients with aggressive B-NHLs in order to investigate the potential of microRNA (miR)-155, its precursor BIC, as well as miR-21 and miR-26a to differentiate BL from DLBCL, and from DLBCL/BL that include B-NHLs[11q]. Both BL and DLBCL/BL cases, including B-NHLs[11q], demonstrated significantly lower expression levels of miR-155/BIC, miR-21, and miR-26a compared to primary DLBCL. In conclusion, the miRs expression in B-NHLs[11q] provides a new suggestion, in addition to pathomorphological and clinical similarities between classical, i.e., MYC translocation-positive BL, and B-NHLs[11q], to recognize the B-NHLs[11q] subgroup of DLBCL/BL category as a MYC translocation-negative variant of BL in most cases, and points to the potential utility of miR-155/BIC/miR-21/miR-26a for the differential diagnosis of a heterogeneous category of DLBCL/BL.

  4. Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases.

    Science.gov (United States)

    Reilly, J T; Snowden, J A; Spearing, R L; Fitzgerald, P M; Jones, N; Watmore, A; Potter, A

    1997-07-01

    The prognostic significance of cytogenetic abnormalities was determined in 106 patients with well-characterized idiopathic myelofibrosis who were successfully karyotyped at diagnosis. 35% of the cases exhibited a clonal abnormality (37/106), whereas 65% (69/106) had a normal karyotype. Three characteristic defects, namely del(13q) (nine cases), del(20q) (eight cases) and partial trisomy 1q (seven cases), were present in 64.8% (24/37) of patients with clonal abnormalities. Kaplan-Meier plots and log rank analysis demonstrated an abnormal karyotype to be an adverse prognostic variable (P 10.3 x 10(9)/l; P=0.06) were also associated with a shorter survival. In contrast, sex, spleen and liver size, and percentage blast cells were not found to be significant. Multivariate analysis, using Cox's regression, revealed karyotype, haemoglobin concentration, platelet and leucocyte counts to retain their unfavourable prognostic significance. A simple and useful schema for predicting survival in idiopathic myelofibrosis has been produced by combining age, haemoglobin concentration and karyotype with median survival times varying from 180 months (good-risk group) to 16 months (poor-risk group).

  5. 31 CFR 30.6 - Q-6: How does a TARP recipient comply with the requirement under § 30.4 (Q-4) of this part that...

    Science.gov (United States)

    2010-07-01

    ... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Q-6: How does a TARP recipient comply... recipient's employees? 30.6 Section 30.6 Money and Finance: Treasury Office of the Secretary of the Treasury TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.6 Q-6: How does a TARP recipient comply...

  6. 31 CFR 30.5 - Q-5: How does a TARP recipient comply with the requirements under § 30.4 (Q-4) of this part that...

    Science.gov (United States)

    2010-07-01

    ... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Q-5: How does a TARP recipient comply... recipient? 30.5 Section 30.5 Money and Finance: Treasury Office of the Secretary of the Treasury TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.5 Q-5: How does a TARP recipient comply with the...

  7. Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

    Science.gov (United States)

    Matoso, Eunice; Melo, Joana B; Ferreira, Susana I; Jardim, Ana; Castelo, Teresa M; Weise, Anja; Carreira, Isabel M

    2013-08-01

    An insertional translocation (IT) can result in pure segmental aneusomy for the inserted genomic segment allowing to define a more accurate clinical phenotype. Here, we report on two siblings sharing an unbalanced IT inherited from the mother with a history of learning difficulty. An 8-year-old girl with developmental delay, speech disability, and attention-deficit hyperactivity disorder (ADHD), showed by GTG banding analysis a subtle interstitial alteration in 21q21. Oligonucleotide array comparative genomic hybridization (array-CGH) analysis showed a 4q13.1-q13.3 duplication spanning 8.6 Mb. Fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) clones confirmed the rearrangement, a der(21)ins(21;4)(q21;q13.1q13.3). The duplication described involves 50 RefSeq genes including the EPHA5 gene that encodes for the EphA5 receptor involved in embryonic development of the brain and also in synaptic remodeling and plasticity thought to underlie learning and memory. The same rearrangement was observed in a younger brother with behavioral problems and also exhibiting ADHD. ADHD is among the most heritable of neuropsychiatric disorders. There are few reports of patients with duplications involving the proximal region of 4q and a mild phenotype. To the best of our knowledge this is the first report of a duplication restricted to band 4q13. This abnormality could be easily missed in children who have nonspecific cognitive impairment. The presence of this behavioral disorder in the two siblings reinforces the hypothesis that the region involved could include genes involved in ADHD. Copyright © 2013 Wiley Periodicals, Inc.

  8. Diode-pumped continuous-wave and passively Q-switched 1066 nm Nd:GYNbO4 laser

    Science.gov (United States)

    Ma, Yufei; Peng, Zhenfang; He, Ying; Li, Xudong; Yan, Renpeng; Yu, Xin; Zhang, Qingli; Ding, Shoujun; Sun, Dunlu

    2017-08-01

    A diode-pumped passively Q-switched 1066 nm laser with a novel Nd:Gd0.69Y0.3NbO4 mixed crystal was demonstrated for the first time to the best of our knowledge. In the continuous-wave (CW) operation, optimization selection of output couplers was carried out, and a maximum output power of 2.13 W was obtained when the plane mirror with transmission of 25% was chosen and the absorbed pump power was 10.5 W. The Cr4+:YAG passively Q-switched Nd:Gd0.69Y0.3NbO4 laser performance was investigated. At an absorbed pump power of 10.5 W, using Cr4+:YAG with initial transmission of 80%, the obtained minimum pulse width was 7.2 ns with the pulse repetition rate of 19 kHz. The single pulse energy and peak power were estimated to be 26.7 µJ and 3.7 kW, respectively.

  9. Aqueous partial molar heat capacities and volumes for NaReO4 and NaTcO4

    International Nuclear Information System (INIS)

    Lemire, R.J.; Saluja, P.P.S.; Campbell, A.B.

    1989-01-01

    As part of the Canadian Nuclear Fuel Waste Management Program, data are required to model the equilibrium thermodynamic behavior of key radionuclides at temperatures above 25 degree C. A flow microcalorimeter/densimeter system has been commissioned to measure heat capacities and densities of solutions containing radioactive species. Measurements for solutions of aqueous NaReO 4 (a common analogue for NaTcO 4 ) were made at seven temperatures (15 to 100 degree C) over the concentration range 0.05 to 0.2 mol·kg -1 . Subsequently, measurements were made for NaTcO 4 solutions under similar conditions. The heat capacity and density data are analyzed using Pitzer's ion-interaction model, and values of the NaReO 4 partial molar heat capacities are compared to literature values based on integral heats of solution. The agreement between the two sets of NaReO 4 data is good below 75 degree C, but only fair at the higher temperatures. Values of the partial molar volumes have also been derived. The uncertainties introduced by using thermodynamic data for ReO 4 - , in the absence of data for TcO 4 - , are discussed

  10. Serum retinol binding protein 4 in patients with familial partial lipodystrophy.

    Science.gov (United States)

    Godoy-Matos, Amélio F; Moreira, Rodrigo O; MacDowell, Renata; Bendet, Izidro; Mory, Patrícia B; Moises, Regina S

    2009-07-01

    To determine Retinol Binding Protein 4 (RBP4) levels in patients with Familial Partial Lipodystrophy (FPLD). Ten patients with FPLD and a control group (9 patients) were selected to participate in the study. RBP4-log levels were lower in patients with FPLD in comparison to control group (1.52 +/- 0.32 vs 1.84+/-0.25, p=0.029). A statistical trend was observed between Waist-to-Hip Ratio and RBP4-log (r=-0.44, p=0.054). RBP4 levels are decreased in FPLD.

  11. Leveraging EAP-Sparsity for Compressed Sensing of MS-HARDI in (k, q)-Space.

    Science.gov (United States)

    Sun, Jiaqi; Sakhaee, Elham; Entezari, Alireza; Vemuri, Baba C

    2015-01-01

    Compressed Sensing (CS) for the acceleration of MR scans has been widely investigated in the past decade. Lately, considerable progress has been made in achieving similar speed ups in acquiring multi-shell high angular resolution diffusion imaging (MS-HARDI) scans. Existing approaches in this context were primarily concerned with sparse reconstruction of the diffusion MR signal S(q) in the q-space. More recently, methods have been developed to apply the compressed sensing framework to the 6-dimensional joint (k, q)-space, thereby exploiting the redundancy in this 6D space. To guarantee accurate reconstruction from partial MS-HARDI data, the key ingredients of compressed sensing that need to be brought together are: (1) the function to be reconstructed needs to have a sparse representation, and (2) the data for reconstruction ought to be acquired in the dual domain (i.e., incoherent sensing) and (3) the reconstruction process involves a (convex) optimization. In this paper, we present a novel approach that uses partial Fourier sensing in the 6D space of (k, q) for the reconstruction of P(x, r). The distinct feature of our approach is a sparsity model that leverages surfacelets in conjunction with total variation for the joint sparse representation of P(x, r). Thus, our method stands to benefit from the practical guarantees for accurate reconstruction from partial (k, q)-space data. Further, we demonstrate significant savings in acquisition time over diffusion spectral imaging (DSI) which is commonly used as the benchmark for comparisons in reported literature. To demonstrate the benefits of this approach,.we present several synthetic and real data examples.

  12. Braided affine geometry and q-analogs of wave operators

    International Nuclear Information System (INIS)

    Gurevich, Dimitri; Saponov, Pavel

    2009-01-01

    The main goal of this review is to compare different approaches to constructing the geometry associated with a Hecke type braiding (in particular, with that related to the quantum group U q (sl(n))). We place emphasis on the affine braided geometry related to the so-called reflection equation algebra (REA). All objects of such a type of geometry are defined in the spirit of affine algebraic geometry via polynomial relations on generators. We begin by comparing the Poisson counterparts of 'quantum varieties' and describe different approaches to their quantization. Also, we exhibit two approaches to introducing q-analogs of vector bundles and defining the Chern-Connes index for them on quantum spheres. In accordance with the Serre-Swan approach, the q-vector bundles are treated as finitely generated projective modules over the corresponding quantum algebras. Besides, we describe the basic properties of the REA used in this construction and compare different ways of defining q-analogs of partial derivatives and differentials on the REA and algebras close to them. In particular, we present a way of introducing a q-differential calculus via Koszul type complexes. The elements of the q-calculus are applied to defining q-analogs of some relativistic wave operators. (topical review)

  13. Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.

    Science.gov (United States)

    Chen, H; Tuck-Muller, C M; Batista, D A; Wertelecki, W

    1995-03-27

    We report on a 15-year-old black boy with severe mental retardation, multiple congenital anomalies, and a supernumerary ring chromosome mosaicism. Fluorescence in situ hybridization with a chromosome 1 painting probe (pBS1) identified the ring as derived from chromosome 1. The karyotype was 46,XY/47,XY,+r(1)(p13q23). A review showed 8 reports of ring chromosome 1. In 5 cases, the patients had a non-supernumerary ring chromosome 1 resulting in partial monosomies of the short and/or long arm of chromosome 1. In 3 cases, the presence of a supernumerary ring resulted in partial trisomy of different segments of chromosome 1. In one of these cases the supernumerary ring was composed primarily of the centromere and the heterochromatic region of chromosome 1, resulting in normal phenotype. Our patient represents the third report of a supernumerary ring chromosome 1 resulting in abnormal phenotype.

  14. Partially fluorinated arylene polyethers and their ternary blend membranes with PBI and H3PO4

    DEFF Research Database (Denmark)

    Kerres, J.; Schonberger, F.; Chromik, A

    2008-01-01

    A partially fluorinated polyether ionomer from polycondensation of decafluorobiphenyl with 2,2-bis(4-hydroxyphenyl)-hexafluoropropane, followed by sulphonation with H2SO4 (60% SO3), has been prepared and optimised in terms of molecular weight and sulphonation degree. The partially fluorinated ion...

  15. Skew cyclic codes over F_q+uF_q+vF_q+uvF_q

    Directory of Open Access Journals (Sweden)

    Ting Yao

    2015-09-01

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

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

    Directory of Open Access Journals (Sweden)

    Carolina Serena

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

  17. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

    DEFF Research Database (Denmark)

    Kirchhoff, Maria; Bisgaard, Anne-Marie; Stoeva, Radka

    2009-01-01

    Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant on the size and position of the deleted region. In order to update the phenotypic map of chromosome 13q21.1-qter deletions, we applied 244k Agilent oligonucleotide-based array-CGH to determine the exact break......-genotype correlation on chromosome 13. In contrast to previous reports of carriers of 13q32 band deletions as the most seriously affected patients, we present two such individuals with long-term survival, 28 and 2.5 years....

  18. Common Atrial Fibrillation Risk Alleles at 4q25 Predict Recurrence after Catheter-based Atrial Fibrillation Ablation

    Science.gov (United States)

    Shoemaker, M. Benjamin; Muhammad, Raafia; Parvez, Babar; White, Brenda W.; Streur, Megan; Song, Yanna; Stubblefield, Tanya; Kucera, Gayle; Blair, Marcia; Rytlewski, Jason; Parvathaneni, Sunthosh; Nagarakanti, Rangadham; Saavedra, Pablo; Ellis, Christopher; Whalen, S. Patrick; Roden, Dan M; Darbar, Dawood

    2012-01-01

    Background Common single nucleotide polymorphisms (SNPs) at chromosome 4q25 (rs2200733, rs10033464) are associated with both lone and typical AF. Risk alleles at 4q25 have recently been shown to predict recurrence of AF after ablation in a population of predominately lone AF, but lone AF represents only 5–30% of AF cases. Objective To test the hypothesis that 4q25 AF risk alleles can predict response to AF ablation in the majority of AF cases. Methods Patients enrolled in the Vanderbilt AF Registry underwent 378 catheter-based AF ablations (median age 60 years, 71% male, 89% typical AF) between 2004 and 2011. The primary endpoint was time to recurrence of any non-sinus atrial tachyarrhythmia (atrial tachycardia, atrial flutter, or AF; [AT/AF]). Results Two-hundred AT/AF recurrences (53%) were observed. In multivariable analysis, the rs2200733 risk allele predicted a 24% shorter recurrence-free time (survival time ratio 0.76 95% confidence interval [CI] 0.6–0.95, P=0.016) compared with wild-type. The heterozygous haplotype demonstrated a 21% shorter recurrence-free time (survival time ratio = 0.79, 95% CI 0.62–0.99) and the homozygous risk allele carriers a 39% shorter recurrence-free time (survival time ratio = 0.61, 95% CI 0.37–1.0) (P=0.037). Conclusion Risk alleles at the 4q25 loci predict impaired clinical response to AF ablation in a population of predominately typical AF patients. Our findings suggest the rs2200733 polymorphism may hold promise as an as an objectively measured patient characteristic that can used as a clinical tool for selection of patients for AF ablation. PMID:23178686

  19. Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype.

    Science.gov (United States)

    Vergara-Mendez, Laura Daniela; Talero-Gutiérrez, Claudia; Velez-Van-Meerbeke, Alberto

    2018-03-01

    We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down's syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children (Balwan et al. 2008; Li et al. 2004; Park et al. 1995; Day et al. 1963).

  20. Array-based genomic screening at diagnosis and during follow-up in chronic lymphocytic leukemia

    DEFF Research Database (Denmark)

    Gunnarsson, Rebeqa; Mansouri, Larry; Isaksson, Anders

    2011-01-01

    High-resolution genomic microarrays enable simultaneous detection of copy-number aberrations such as the known recurrent aberrations in chronic lymphocytic leukemia [del(11q), del(13q), del(17p) and trisomy 12], and copy-number neutral loss of heterozygosity. Moreover, comparison of genomic...... profiles from sequential patients' samples allows detection of clonal evolution....

  1. Síndrome 18 q -heredado

    Directory of Open Access Journals (Sweden)

    Manuela Herrera Martínez

    1997-08-01

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

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

    Science.gov (United States)

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

    2018-01-01

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

  3. Obesity-induced oocyte mitochondrial defects are partially prevented and rescued by supplementation with co-enzyme Q10 in a mouse model

    Science.gov (United States)

    Boots, C.E.; Boudoures, A.; Zhang, W.; Drury, A.; Moley, K.H.

    2016-01-01

    STUDY QUESTION Does supplementation with co-enzyme Q10 (CoQ10) improve the oocyte mitochondrial abnormalities associated with obesity in mice? SUMMARY ANSWER In an obese mouse model, CoQ10 improves the mitochondrial function of oocytes. WHAT IS KNOWN ALREADY Obesity impairs oocyte quality. Oocytes from mice fed a high-fat/high-sugar (HF/HS) diet have abnormalities in mitochondrial distribution and function and in meiotic progression. STUDY DESIGN, SIZE, DURATION Mice were randomly assigned to a normal, chow diet or an isocaloric HF/HS diet for 12 weeks. After 6 weeks on the diet, half of the mice receiving a normal diet and half of the mice receiving a HF/HS diet were randomly assigned to receive CoQ10 supplementation injections for the remaining 6 weeks. PARTICIPANTS/MATERIALS, SETTING, METHODS Dietary intervention was initiated on C57Bl6 female mice at 4 weeks of age, CoQ10 versus vehicle injections were assigned at 10 weeks, and assays were conducted at 16 weeks of age. Mice were super-ovulated, and oocytes were collected and stained to assess mitochondrial distribution, quantify reactive oxygen species (ROS), assess meiotic spindle formation, and measure metabolites. In vitro fertilization was performed, and blastocyst embryos were transferred into control mice. Oocyte number, fertilization rate, blastulation rate and implantation rate were compared between the four cohorts. Bivariate statistics were performed appropriately. MAIN RESULTS AND THE ROLE OF CHANCE HF/HS mice weighed significantly more than normal diet mice (29 versus 22 g, P< 0.001). CoQ10 supplementation did not influence weight. Levels of ATP, citrate, and phosphocreatine were lower and ROS levels were higher in HF/HS mice than in controls (P< 0.001). CoQ10 supplementation significantly increased the levels of metabolites and decreased ROS levels in oocytes from normal diet mice but not in oocytes from HF/HS mice. However, CoQ10 completely prevented the mitochondrial distribution abnormalities

  4. Preclinical Efficacy of [V4Q5]dDAVP, a Second Generation Vasopressin Analog, on Metastatic Spread and Tumor-Associated Angiogenesis in Colorectal Cancer.

    Science.gov (United States)

    Garona, Juan; Sobol, Natasha T; Pifano, Marina; Segatori, Valeria I; Gomez, Daniel E; Ripoll, Giselle V; Alonso, Daniel F

    2018-06-01

    Control of metastatic spread of colorectal cancer (CRC) remains as a major therapeutic challenge. [V4Q5]dDAVP is a vasopressin peptide analog with previously reported anticancer activity against carcinoma tumors. By acting as a selective agonist of AVPR2 present in endothelial and tumor cells, [V4Q5]dDAVP is able to impair tumor aggressiveness and distant spread. Our aim was to evaluate the potential therapeutic benefits of [V4Q5]dDAVP on highly aggressive CRC disease using experimental models with translational relevance. Murine CT-26 and human Colo-205 AVPR2-expressing CRC cell lines were used to test the preclinical efficacy of [V4Q5]dDAVP, both in vitro and in vivo. In syngeneic mice surgically implanted with CT-26 cells in the spleen, sustained i.v. treatment with [V4Q5]dDAVP (0.3 µg/kg) dramatically impaired metastatic progression to liver without overt signs of toxicity, and also reduced experimental lung colonization. The compound inhibited in vivo angiogenesis driven by Colo-205 cells in athymic mice, as well as in vitro endothelial cell migration and capillary tube formation. [V4Q5]dDAVP exerted AVPR2-dependent cytostatic activity in vitro (IC50 1.08 µM) and addition to 5-FU resulted in synergistic antiproliferative effects both in CT-26 and Colo-205 cells. The present preclinical study establishes for the first time the efficacy of [V4Q5]dDAVP on CRC. These encouraging results suggest that the novel second generation vasopressin analog could be used for the management of aggressive CRC as an adjuvant agent during surgery or to complement standard chemotherapy, limiting tumor angiogenesis and metastasis and thus protecting the patient from CRC recurrence.

  5. Hormonal Influence on Coenzyme Q10 Levels in Blood Plasma

    Directory of Open Access Journals (Sweden)

    Alfredo Pontecorvi

    2011-12-01

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

  6. Axino dark matter and baryon number asymmetry production by the Q-ball decay in gauge mediation

    Energy Technology Data Exchange (ETDEWEB)

    Kasuya, Shinta [Department of Mathematics and Physics, Kanagawa University, Kanagawa 259-1293 (Japan); Kawakami, Etsuko; Kawasaki, Masahiro, E-mail: kasuya@kanagawa-u.ac.jp, E-mail: kwkm@icrr.u-tokyo.ac.jp, E-mail: kawasaki@icrr.u-tokyo.ac.jp [Institute for Cosmic Ray Research, University of Tokyo, Chiba 277-8582 (Japan)

    2016-03-01

    We investigate the Q-ball decay into the axino dark matter in the gauge-mediated supersymmetry breaking. In our scenario, the Q ball decays mainly into nucleons and partially into axinos to account respectively for the baryon asymmetry and the dark matter of the universe. The Q ball decays well before the big bang nucleosynthesis so that it is not affected by the decay. We show the region of the parameters which realizes this scenario.

  7. Hydrazine-hydrothermal syntheses, characterizations and photoelectrochemical properties of two quaternary chalcogenidoantimonates(III) BaCuSbQ{sub 3} (Q = S, Se)

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Chang; Hou, Peipei [State Key Laboratory of Silicon Materials, School of Materials Science and Engineering, Zhejiang University, Hangzhou 310027 (China); Chai, Wenxiang [College of Materials Science and Engineering, China Jiliang University, Hangzhou 310018 (China); Tian, Jiawei; Zheng, Xuerong; Shen, Yaying; Zhi, Mingjia; Zhou, Chunmei [State Key Laboratory of Silicon Materials, School of Materials Science and Engineering, Zhejiang University, Hangzhou 310027 (China); Liu, Yi, E-mail: liuyimse@zju.edu.cn [State Key Laboratory of Silicon Materials, School of Materials Science and Engineering, Zhejiang University, Hangzhou 310027 (China)

    2016-09-15

    Two isostructural quaternary chalcogenidoantimonates(III) BaCuSbQ{sub 3} (Q = S, Se): BaCuSbS{sub 3} (1) and BaCuSbSe{sub 3} (2) have been successfully synthesized through a facile hydrazine-hydrothermal method. Both two compounds crystallize in the orthorhombic space group and feature a three-dimensional (3D) channeled [Cu{sub 2}Sb{sub 2}Q{sub 6}]{sup 4-} framework, which is constructed by the distorted tetrahedral CuQ{sub 4} and pyramid SbQ{sub 3} units via vertex sharing. Both optical properties and theoretical studies show 1 and 2 are semiconductors with narrow band gaps. In addition, their photoelectrochemical properties have been investigated. - Highlights: • BaCuSbQ{sub 3} (Q = S, Se) were synthesized through a hydrazine-hydrothermal method. • BaCuSbQ{sub 3} (Q = S, Se) feature a 3D framework by single-crystal X-ray diffraction. • Experimental and theoretical studies confirm BaCuSbQ{sub 3} (Q = S, Se) are semiconductors. • Photoelectrochemical properties of BaCuSbQ{sub 3} (Q = S, Se) have been investigated.

  8. Chromosomal aberrations as etiological factors of intrauterine growth retardation

    Directory of Open Access Journals (Sweden)

    Petrović Bojana

    2008-01-01

    Full Text Available Background/Aim. Intrauterine growth retardation (IUGR is a pathological condition of pregnancy characterised by birth weight below the 10th centile. A number of fetal, placental and maternal causes can lead to IUGR; although, in most cases no specific causes can be identified. The aim of this study was to determine the part of chromosomal abnormalities in IUGR etiology. Methods. Fetal blood karyotype taken by cordocentesis from 168 fetuses with diagnosed IUGR was analyzed. Results. Chromosomal rearrangements both numerical and structural were detected in 14 cases (12.2%. Two cases were triploid. Patau syndrome, Edwards syndrome and Down syndrome were found in two cases each. There was one case of trisomy 7 (47, XY, +7 and one case of trisomy 16 (47, XX, +16; one translocation, 46, XY, t (2; 14(q23; q32 and a deletion 46, XYdel (12 (p12 as well as two cases of sex chromosomes abnormalities, 45, X (Turner syndrome and 47, XYY. Conclusion. These findings suggest that a consistent number of symmetrical IUGR cases (about 12% can be associated with chromosomal rearrangements. Chromosomal aberrations that cause IUGR are heterogeneous, aberration of autosomes, mostly autosomal trisomies, being the most common.

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

    International Nuclear Information System (INIS)

    Nelson, C.A.

    1994-01-01

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

  10. Theoretical and experimental study of a laser-diode-pumped actively Q-switched Yb:NaY(WO4)2 laser with acoustic-optic modulator

    Science.gov (United States)

    Zhang, Haikun; Xia, Wei; Song, Peng; Wang, Jing; Li, Xin

    2018-03-01

    A laser-diode-pumped actively Q-switched Yb:NaY(WO4)2 laser operating at around 1040 nm is presented for the first time with acoustic-optic modulator. The dependence of pulse width on incident pump power for different pulse repetition rates is measured. By considering the Guassian spatial distribution of the intracavity photon density and the initial population-inversion density as well as the longitudinal distribution of the photon density along the cavity axis and the turn off time of the acoustic-optic Q-switch, the coupled equations of the actively Q-switched Yb:NaY(WO4)2 laser are given. The coupled rate equations are used to simulate the Q-switched process of laser, and the numerical solutions agree with the experimental results.

  11. Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.

    Science.gov (United States)

    Kwasnicka-Crawford, Dorota A; Carson, Andrew R; Roberts, Wendy; Summers, Anne M; Rehnström, Karola; Järvelä, Irma; Scherer, Stephen W

    2005-08-01

    Specific language impairment (SLI) is defined as failure to acquire normal language skills despite adequate intelligence and environmental stimulation. Although SLI disorders are often heritable, the genetic basis is likely to involve a number of risk factors. This study describes a 7-year-old girl carrying an inherited paracentric inversion of the long arm of chromosome 3 [46XX, inv(3)(q25.32-q29)] having clinically defined expressive and receptive language delay. Fluorescence in situ hybridization (FISH) with locus-specific bacterial artificial chromosome clones (BACs) as probes was used to characterize the inverted chromosome 3. The proximal and distal inversion breakpoint was found to reside between markers D3S3692/D3S1553 and D3S3590/D3S2305, respectively. ATP13A4, a novel gene coding for a cation-transporting P-type ATPase, was found to be disrupted by the distal breakpoint. The ATP13A4 gene was shown to comprise a 3591-bp transcript encompassing 30 exons spanning 152 kb of the genomic DNA. This study discusses the characterization of ATP13A4 and its possible involvement in speech-language disorder.

  12. Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

    Directory of Open Access Journals (Sweden)

    Olla Carlo

    2007-08-01

    Full Text Available Abstract Background The Down syndrome phenotype has been attributed to overexpression of chromosome 21 (Hsa21 genes. However, the expression profile of Hsa21 genes in trisomic human subjects as well as their effects on genes located on different chromosomes are largely unknown. Using oligonucleotide microarrays we compared the gene expression profiles of hearts of human fetuses with and without Hsa21 trisomy. Results Approximately half of the 15,000 genes examined (87 of the 168 genes on Hsa21 were expressed in the heart at 18–22 weeks of gestation. Hsa21 gene expression was globally upregulated 1.5 fold in trisomic samples. However, not all genes were equally dysregulated and 25 genes were not upregulated at all. Genes located on other chromosomes were also significantly dysregulated. Functional class scoring and gene set enrichment analyses of 473 genes, differentially expressed between trisomic and non-trisomic hearts, revealed downregulation of genes encoding mitochondrial enzymes and upregulation of genes encoding extracellular matrix proteins. There were no significant differences between trisomic fetuses with and without heart defects. Conclusion We conclude that dosage-dependent upregulation of Hsa21 genes causes dysregulation of the genes responsible for mitochondrial function and for the extracellular matrix organization in the fetal heart of trisomic subjects. These alterations might be harbingers of the heart defects associated with Hsa21 trisomy, which could be based on elusive mechanisms involving genetic variability, environmental factors and/or stochastic events.

  13. Hematological abnormalities and 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2011-01-01

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

  14. The human RecQ helicases BLM and RECQL4 cooperate to preserve genome stability

    Czech Academy of Sciences Publication Activity Database

    Singh, D.K.; Popuri, V.; Kulikowicz, T.; Shevelev, Igor; Ghosh, A.K.; Ramamoorthy, M.; Rossi, M.L.; Janščák, Pavel; Croteau, D.L.; Bohr, V.A.

    2012-01-01

    Roč. 40, č. 14 (2012), s. 6632-6648 ISSN 0305-1048 R&D Projects: GA ČR GAP305/10/0281 Grant - others:NIH(US) Z01-AG000726-17 Institutional research plan: CEZ:AV0Z50520514 Institutional support: RVO:68378050 Keywords : RecQ helicase * genome stability * BLM * RECQL4 Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 8.278, year: 2012

  15. Prospective evaluation of first trimester combined screening for trisomy 21 using a double set of the maternal serum markers PAPP-A and free β-hCG

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Wright, Dave; Ball, Susan

    with an early blood sample taken prior to the NT scan, and another blood sample taken at the time of the NT scan. PAPP-A and free β-hCG were measured on both the early and the late samples, and Multiples of the Median (MoM) values were calculated in addition to the corresponding trisomy 21 risk. Using...... taken between gestational week 8+0 to 13+6, and the late samples were taken between week 11+3 and 14+6. The median interval between the samples was 17 days (range 1-40 days). The best performance of the combined screening was obtained using PAPP-A from the early sample and free β-hCG from the late...... sample, with a 95% DR for a 2.5 % FPR at a cut off 1:100. Conclusion: Using repeated biochemical sampling in the first trimester with early PAPP-A and late free β-hCG can optimize the screening performance of combined screening for trisomy 21....

  16. Cytogenetic report of a male breast cancer

    DEFF Research Database (Denmark)

    Cavalli, L R; Rogatto, S R; Rainho, C A

    1995-01-01

    of chromosome 8 in the characterization of the subtype of ductal breast carcinomas and demonstrate that chromosome 17, which is frequently involved in female breast cancers, is also responsible for the development or progression of primary breast cancers in males.......The cytogenetic findings on G-banding in an infiltrating ductal breast carcinoma in a 69-year-old man are reported. The main abnormalities observed were trisomy of chromosomes 8 and 9 and structural rearrangement in the long arm of chromosome 17 (add(17)(q25)). Our results confirm the trisomy...

  17. Genetics Home Reference: autosomal dominant partial epilepsy with auditory features

    Science.gov (United States)

    ... for This Condition ADLTE ADPEAF Autosomal dominant lateral temporal lobe epilepsy Epilepsy, partial, with auditory features ETL1 Related Information ... W, Nakken KO, Fischer C, Steinlein OK. Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22- ...

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

    Science.gov (United States)

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

    2015-04-11

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

  19. On q-power cycles in cubic graphs

    DEFF Research Database (Denmark)

    Bensmail, Julien

    2017-01-01

    In the context of a conjecture of Erdos and Gyárfás, we consider, for any q ≥ 2, the existence of q-power cycles (i.e. with length a power of q) in cubic graphs. We exhibit constructions showing that, for every q ≥ 3, there exist arbitrarily large cubic graphs with no q-power cycles. Concerning...... the remaining case q = 2 (which corresponds to the conjecture of Erdos and Gyárfás), we show that there exist arbitrarily large cubic graphs whose only 2-power cycles have length 4 only, or 8 only....

  20. The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

    Science.gov (United States)

    van Rijn, Sophie; Stockmann, Lex; Borghgraef, Martine; Bruining, Hilgo; van Ravenswaaij-Arts, Conny; Govaerts, Lutgarde; Hansson, Kerstin; Swaab, Hanna

    2014-01-01

    The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girls with Trisomy X), 58 children with ASD and 106…

  1. Partial achilles tendon rupture presenting with giant hematoma; MRI findings of 4 year follow up.

    Science.gov (United States)

    Sarsilmaz, Aysegul; Varer, Makbule; Coskun, Gulten; Apaydın, Melda; Oyar, Orhan

    2011-12-01

    In the young population, spontaneous rupture of Achilles tendon is very rare. The big hematoma is also rare finding of the Achilles tendon partial rupture. It is usually seen with complete rupture. We presented imaging findings of 4 years follow up of the spontaneous partial rupture of Achilles tendon presenting with giant expanding hematoma and mimicking complete rupture radiologically. We discussed the alterations of tendon signal intensity and result of conservative therapy after partial rupture with big hematoma in the long term. A 29 year-old man, applied with pain and swelling in the retrocalcaneal region of left ankle. He did not have chronic metabolic disease. He was not active in physical activities. X-ray radiograms were normal. At magnetic resonance images (MRI), there was an intratendinous big hematoma, subcutanous fat planes were edematous around tendon. The diagnosis was partial rupture and giant hematoma. Hematoma was drained. The conservative treatment was applied and his complaints disappeared. After treatment, approximately 4 years later, control MRI showed thickened and hypointense tendon in all images. Crown Copyright © 2011. Published by Elsevier Ltd. All rights reserved.

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

    Science.gov (United States)

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

    2007-02-01

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

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

    Science.gov (United States)

    Eichten, Estia J; Quigg, Chris

    2017-11-17

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

  4. An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly

    Directory of Open Access Journals (Sweden)

    J. Carter

    2017-01-01

    Full Text Available Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphism, linear skin pigmentation, and hepatomegaly. An additional small ring chromosome was detected in 5/30 cells examined via G-banding. Confirmation of the origin of the ring chromosome was obtained by FISH analysis which identified that the ring chromosome contained material from the deleted region of chromosome 4 and was therefore complementary to the 21.6 Mb deletion. Further microarray studies in the proband using a different microarray platform showed no evidence of mosaicism. This case highlights the importance of an integrated approach to cytogenetic analysis and demonstrates the value of G-banding for detecting mosaicism, as current microarray platforms are unable to detect low level mosaics.

  5. Profiling the metabolome changes caused by cranberry procyanidins in plasma of female rats using (1) H NMR and UHPLC-Q-Orbitrap-HRMS global metabolomics approaches.

    Science.gov (United States)

    Liu, Haiyan; Garrett, Timothy J; Tayyari, Fariba; Gu, Liwei

    2015-11-01

    The objective was to investigate the metabolome changes in female rats gavaged with partially purified cranberry procyanidins (PPCP) using (1) H NMR and UHPLC-Q-Orbitrap-HRMS metabolomics approaches, and to identify the contributing metabolites. Twenty-four female Sprague-Dawley rats were randomly separated into two groups and administered PPCP or partially purified apple procyanidins (PPAP) for three times using a 250 mg extracts/kg body weight dose. Plasma was collected 6 h after the last gavage and analyzed using (1) H NMR and UHPLC-Q-Orbitrap-HRMS. No metabolome difference was observed using (1) H NMR metabolomics approach. However, LC-HRMS metabolomics data show that metabolome in the plasma of female rats administered PPCP differed from those gavaged with PPAP. Eleven metabolites were tentatively identified from a total of 36 discriminant metabolic features based on accurate masses and/or product ion spectra. PPCP caused a greater increase of exogenous metabolites including p-hydroxybenzoic acid, phenol, phenol-sulphate, catechol sulphate, 3, 4-dihydroxyphenylvaleric acid, and 4'-O-methyl-(-)-epicatechin-3'-O-beta-glucuronide in rat plasma. Furthermore, the plasma level of O-methyl-(-)-epicatechin-O-glucuronide, 4-hydroxy-5-(hydroxyphenyl)-valeric acid-O-sulphate, 5-(hydroxyphenyl)-ϒ-valerolactone-O-sulphate, 4-hydroxydiphenylamine, and peonidin-3-O-hexose were higher in female rats administered with PPAP. The metabolome changes caused by cranberry procyanidins were revealed using an UHPLC-Q-Orbitrap-HRMS global metabolomics approach. Exogenous and microbial metabolites were the major identified discriminate biomarkers. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  6. Profiling the Metabolome Changes Caused by Cranberry Procyanidins in Plasma of Female Rats using 1H NMR and UHPLC-Q-Orbitrap-HRMS Global Metabolomics Approaches

    Science.gov (United States)

    Liu, Haiyan; Garrett, Timothy J.; Tayyari, Fariba; Gu, Liwei

    2015-01-01

    Scope The objective was to investigate the metabolome changes in female rats gavaged with partially purified cranberry procyanidins (PPCP) using 1H NMR and UHPLC-Q-Orbitrap-HRMS metabolomics approaches, and to identify the contributing metabolites. Methods and results Twenty four female Sprague-Dawley rats were randomly separated into two groups and administered PPCP or partially purified apple procyanidins (PPAP) for 3 times using a 250 mg extracts/kg body weight dose. Plasma were collected six hours after the last gavage and analyzed using 1H NMR and UHPLC-Q-Orbitrap-HRMS. No metabolome difference was observed using 1H NMR metabolomics approach. However, LC-HRMS metabolomics data show that metabolome in plasma of female rats administered PPCP differed from those gavaged with PPAP. Eleven metabolites were tentatively identified from a total of 36 discriminant metabolic features based on accurate masses and/or product ion spectra. PPCP caused a greater increase of exogenous metabolites including p-hydroxybenzoic acid, phenol, phenol-sulfate, catechol sulphate, 3, 4-dihydroxyphenylvaleric acid, and 4′-O-methyl-(−)-epicatechin-3′-O-beta-glucuronide in rat plasma. Furthermore, the plasma level of O-methyl-(−)-epicatechin-O-glucuronide, 4-hydroxy-5-(hydroxyphenyl)-valeric acid-O-sulphate, 5-(hydroxyphenyl)-γ-valerolactone-O-sulphate, 4-hydroxydiphenylamine, and peonidin-3-O-hexose were higher in female rats administered with PPAP. Conclusion The metabolome changes caused by cranberry procyanidins were revealed using an UHPLC-Q-Orbitrap-HRMS global metabolomics approach. Exogenous and microbial metabolites were the major identified discriminate biomarkers. PMID:26264887

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

    Science.gov (United States)

    Passariello, Annalisa; De Brasi, Daniele; Defferrari, Raffaella; Genesio, Rita; Tufano, Maria; Mazzocco, Katia; Capasso, Maria; Migliorati, Roberta; Martinsson, Tommy; Siani, Paolo; Nitsch, Lucio; Tonini, Gian Paolo

    2013-11-01

    Constitutional 11q deletion is a chromosome imbalance possibly found in MCA/MR patients analyzed for chromosomal anomalies. Its role in determining the phenotype depends on extension and position of deleted region. Loss of heterozygosity of 11q (region 11q23) is also associated with neuroblastoma, the most frequent extra cranial cancer in children. It represents one of the most frequent cytogenetic abnormalities observed in the tumor of patients with high-risk disease even if germline deletion of 11q in neuroblastoma is rare. Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions. The role of 11q deletion in determining the clinical phenotype and its association with neuroblastoma development in the patient are discussed. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  8. Four-point functions in N=4 SYM

    International Nuclear Information System (INIS)

    Heslop, Paul J.; Howe, Paul S.

    2003-01-01

    A new derivation is given of four-point functions of charge Q chiral primary multiplets in N=4 supersymmetric Yang-Mills theory. A compact formula, valid for arbitrary Q, is given which is manifestly superconformal and analytic in the internal bosonic coordinates of analytic superspace. This formula allows one to determine the spacetime four-point function of any four component fields in the multiplets in terms of the four-point function of the leading chiral primary fields. The leading term is expressed in terms of 1/2Q(Q-1) functions of two conformal invariants and a number of single variable functions. Crossing symmetry reduces the number of independent functions, while the OPE implies that the single-variable functions arise from protected operators and should therefore take their free form. This is the partial non-renormalisation property of such four-point functions which can be viewed as a consequence of the OPE and the non-renormalisation of three-point functions of protected operators. (author)

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

    International Nuclear Information System (INIS)

    Chaichian, M.

    1996-01-01

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

  10. Minimum Q Electrically Small Antennas

    DEFF Research Database (Denmark)

    Kim, O. S.

    2012-01-01

    Theoretically, the minimum radiation quality factor Q of an isolated resonance can be achieved in a spherical electrically small antenna by combining TM1m and TE1m spherical modes, provided that the stored energy in the antenna spherical volume is totally suppressed. Using closed-form expressions...... for a multiarm spherical helix antenna confirm the theoretical predictions. For example, a 4-arm spherical helix antenna with a magnetic-coated perfectly electrically conducting core (ka=0.254) exhibits the Q of 0.66 times the Chu lower bound, or 1.25 times the minimum Q....

  11. Detailed structure of the q profile around q=1 in JET

    International Nuclear Information System (INIS)

    Pegourie, B.; Dubois, M.A.; Gill, R.D.

    1989-01-01

    The limitation of ablation on rational surfaces has been shown to be an efficient mechanism of striation formation during pellet ablation. In JET, a very large striation is observed when the pellet crosses the q=1 surface. This paper presents a thorough analysis of the pellet ablation in this region and shows that an extended shearless zone around q=1 is necessary to reproduce the experimental signal. Such a feature is likely to be an essential ingredient in the understanding of internal disruptions. (author) 4 refs., 2 figs

  12. A simple one-step chemistry model for partially premixed hydrocarbon combustion

    Energy Technology Data Exchange (ETDEWEB)

    Fernandez-Tarrazo, Eduardo [Instituto Nacional de Tecnica Aeroespacial, Madrid (Spain); Sanchez, Antonio L. [Area de Mecanica de Fluidos, Universidad Carlos III de Madrid, Leganes 28911 (Spain); Linan, Amable [ETSI Aeronauticos, Pl. Cardenal Cisneros 3, Madrid 28040 (Spain); Williams, Forman A. [Department of Mechanical and Aerospace Engineering, University of California San Diego, La Jolla, CA 92093-0411 (United States)

    2006-10-15

    This work explores the applicability of one-step irreversible Arrhenius kinetics with unity reaction order to the numerical description of partially premixed hydrocarbon combustion. Computations of planar premixed flames are used in the selection of the three model parameters: the heat of reaction q, the activation temperature T{sub a}, and the preexponential factor B. It is seen that changes in q with equivalence ratio f need to be introduced in fuel-rich combustion to describe the effect of partial fuel oxidation on the amount of heat released, leading to a universal linear variation q(f) for f>1 for all hydrocarbons. The model also employs a variable activation temperature T{sub a}(f) to mimic changes in the underlying chemistry in rich and very lean flames. The resulting chemistry description is able to reproduce propagation velocities of diluted and undiluted flames accurately over the whole flammability limit. Furthermore, computations of methane-air counterflow diffusion flames are used to test the proposed chemistry under nonpremixed conditions. The model not only predicts the critical strain rate at extinction accurately but also gives near-extinction flames with oxygen leakage, thereby overcoming known predictive limitations of one-step Arrhenius kinetics. (author)

  13. Diode-pumped passively Q-switched Nd:GdTaO4 laser based on tungsten disulfide nanosheets saturable absorber at 1066 nm

    Science.gov (United States)

    Li, M. X.; Jin, G. Y.; Li, Y.

    2018-05-01

    In this paper, we investigated the passively Q-switched Nd:GdTaO4 laser based on tungsten disulfide (WS2) saturable absorber (SA). The preparation method of WS2 SA was to attach the WS2-alcohol dispersion onto the quartz substrates. The diode-pumped passively Q-switched Nd:GdTaO4 laser operated at a central wavelength of 1066 nm. The stable pulse output could be obtained at the single pulse width of 560 ns. In a word, WS2 seems to be a suitable saturable absorber for solid state lasers.

  14. Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.

    Directory of Open Access Journals (Sweden)

    Zhipeng Zeng

    Full Text Available Brugada syndrome (BrS is an inherited arrhythmogenic syndrome leading to sudden cardiac death, partially associated with autosomal dominant mutations in SCN5A, which encodes the cardiac sodium channel alpha-subunit (Nav1.5. To date some SCN5A mutations related with BrS have been identified in voltage sensor of Nav1.5. Here, we describe a dominant missense mutation (R1629Q localized in the fourth segment of domain IV region (DIV-S4 in a Chinese Han family. The mutation was identified by direct sequencing of SCN5A from the proband's DNA. Co-expression of Wild-type (WT or R1629Q Nav1.5 channel and hβ1 subunit were achieved in human embryonic kidney cells by transient transfection. Sodium currents were recorded using whole cell patch-clamp protocols. No significant changes between WT and R1629Q currents were observed in current density or steady-state activation. However, hyperpolarized shift of steady-state inactivation curve was identified in cells expressing R1629Q channel (WT: V1/2 = -81.1 ± 1.3 mV, n = 13; R1629Q: V1/2 = -101.7 ± 1.2 mV, n = 18. Moreover, R1629Q channel showed enhanced intermediate inactivation and prolonged recovery time from inactivation. In summary, this study reveals that R1629Q mutation causes a distinct loss-of-function of the channel due to alter its electrophysiological characteristics, and facilitates our understanding of biophysical mechanisms of BrS.

  15. Experimental cross sections for two-electron capture into nitrogen autoionising states in Nsup(q+) (q=6,7) on He and H2 collisions at 10.5q keV

    International Nuclear Information System (INIS)

    Bordenave-Montesquieu, A.; Benoit-Cattin, P.; Gleizes, A.; Marrakchi, A.I.

    1985-01-01

    Singly differential cross sections for two-electron capture into autoionising states (nl,n'l') with n=2,3,4 and n'>=n in Nsup(q+) (q=6,7) on He and H 2 collisions have been measured at 10,5q ke V collision energy and an observation angle thetasub(lab)=11.6 0 . Total cross sections are estimated assuming isotropic angular distributions. (orig.)

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

    Science.gov (United States)

    Uçar, Faruk

    2014-01-01

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

  17. Study of simultaneous q-switching and mode-locking in ND:YVO4 laser with Cr4+:YAG crystal

    International Nuclear Information System (INIS)

    Al-Sous, M. B.

    2009-01-01

    A numerical model of rate equations for a four-level solid-state laser with Cr 4+ :YAG saturable absorber including excited state absorption ESA is presented. The cavity is divided into a large number of disks and the model is solved for each disk and its local corresponding photon flux. The flux array is shifted for each recurrence simulating the movement of photons inside the cavity during the round trip. This simulator can describe the mode locking phenomenon and can be used to simulate the simultaneous mode locking and Q-switching with a saturable absorber. (author)

  18. Study of simulations q-switching and mode-locking in Nd:YVO4 laser with Cr4+:YAG crystal

    International Nuclear Information System (INIS)

    Al-Sous, M. B.

    2007-12-01

    A numerical model of rate equations for a four-level solid-state laser with Cr 4+ :YAG saturable absorber including excited state absorption ESA is presented. The cavity is divided into a large number of disks and the model is solved for each disk and its local corresponding photon flux. The flux array is shifted for each recurrence simulating the movement of photons inside the cavity during the round trip. This simulator can describe the mode locking phenomenon and can be used to simulate the simultaneous mode locking and Q-switching with a saturable absorber.(author)

  19. Comparision of Inhibitory effects of Satureja Khozistanica,vitamin E and coenzyme Q10 on LDL peroxidation induced-CuSO4 in vitro

    Directory of Open Access Journals (Sweden)

    hasan Ahmadvand

    2010-02-01

    Full Text Available Oxidation of low-density lipoprotein (LDL has been strongly suggested as a key factor in the pathogenesis of atherosclerosis. Thus the inclusion of some anti-oxidant compounds such as Satureja Khozistanica,vitamin E and coenzyme Q10 in daily dietary food stuff may inhibit the production of oxidized LDL and may decrease both the development and the progression of atherosclerosis. The present study investigated the inhibitory effects of Satureja Khozistanica, vitamin E and coenzyme Q10 on LDL peroxidation induced by CuSO4 quantitatively in vitro. Materials and Methods: LDL was incubated with CuSO4 and the formation of conjugated dienes and thiobarbituric acid reactive substances (TBARS of LDL were monitored as markers of LDL oxidation. Inhibition of this Cu-induced oxidation was studied in the presence of extracts of Satureja Khozistanica,vitamin E and coenzyme Q10. Results: It was demonstrated that Satureja Khozistanica like vitamin E and coenzyme Q10 is able to inhibit LDL oxidation and decrease the resistance of LDL against oxidation in vitro. Conclusion: This study showed that Satureja Khozistanica similar to vitamin E and coenzyme Q10 prevented the oxidation of LDL in vitro and it may suggest that they have the similar effect in vivo

  20. Compton scattering on the proton, neutron, and deuteron in chiral perturbation theory to O(Q{sup 4})

    Energy Technology Data Exchange (ETDEWEB)

    S.R. Beane; M. Malheiro; J.A. McGovern; D.R. Phillips; U. van Kolck

    2004-03-01

    We study Compton scattering in systems with A=1 and 2 using chiral perturbation theory up to fourth order. For the proton we fit the two undetermined parameters in the O(Q{sup 4}) {gamma}p amplitude of McGovern to experimental data in the region {omega}, {radical}|t| {le} 180 MeV, obtaining a {chi}{sup 2}/d.o.f. of 133/113. This yields a model-independent extraction of proton polarizabilities based solely on low-energy data: {alpha}{sub p} = (12.1 {+-} 1.1 (stat.)){sub -0.5}{sup +0.5} (theory) and {beta}{sub p} = (3.4 {+-} 1.1 (stat.)){sub -0.1}{sup +0.1} (theory), both in units of 10{sup -4} fm{sup 3}. We also compute Compton scattering on deuterium to O(Q{sup 4}). The {gamma}d amplitude is a sum of one- and two-nucleon mechanisms, and contains two undetermined parameters, which are related to the isoscalar nucleon polarizabilities. We fit data points from three recent {gamma}d scattering experiments with a {chi}{sup 2}/d.o.f. = 26.3/20, and find {alpha}{sub N} = 8.9 {+-} 1.5 (stat.){sub -0.9}{sup +4.7} (theory) and {beta}{sub N} = 2.2 {+-} 1.5 (stat.){sub -0.9}{sup +1.2} (theory), again in units of 10{sup -4} fm{sup 3}.

  1. A prospective study evaluating the performance of first trimester combined screening for trisomy 21 using repeated sampling of the maternal serum markers PAPP-A and free β-hCG

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Wright, Dave; Ball, Susan

    2012-01-01

    OBJECTIVE: To prospectively evaluate the performance of first-trimester combined screening for trisomy 21 using the biochemical markers pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (free β-hCG) obtained before and at the time of the nuchal translucency...

  2. q-Gamow states for intermediate energies

    Energy Technology Data Exchange (ETDEWEB)

    Plastino, A. [La Plata National University and Argentina' s National Research Council, (IFLP-CCT-CONICET)-C. C. 727, 1900 La Plata (Argentina); Rocca, M.C., E-mail: mariocarlosrocca@gmail.com [La Plata National University and Argentina' s National Research Council, (IFLP-CCT-CONICET)-C. C. 727, 1900 La Plata (Argentina); Ferri, G.L. [Fac. de C. Exactas, National University La Pampa, Peru y Uruguay, Santa Rosa, La Pampa (Argentina); Zamora, D.J. [La Plata National University and Argentina' s National Research Council, (IFLP-CCT-CONICET)-C. C. 727, 1900 La Plata (Argentina)

    2016-11-15

    In a recent paper Plastino and Rocca (2016) [18] we have demonstrated the possible existence of Tsallis' q-Gamow states. Now, accelerators' experimental evidence for Tsallis' distributions has been ascertained only at very high energies. Here, instead, we develop a different set of q-Gamow states for which the associated q-Breit–Wigner distribution could easily be found at intermediate energies, for which accelerators are available at many locations. In this context, it should be strongly emphasized Vignat and Plastino (2009) [2] that, empirically, one never exactly and unambiguously “detects” pure Gaussians, but rather q-Gaussians. A prediction is made via Eq. (3.4).

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

    Science.gov (United States)

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

    2016-09-27

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

  4. Abnormalities of chromosome No. 1: significance in malignant transformation

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J D

    1978-01-01

    Studies of human hematologic malignancies have provided sufficient data not only for the identification of nonrandom abnormalities of whole chromosomes, but also for determination of the specific chromosome regions involved. In clonal aberrations leading to an excess of chromosome No. 1, or a partial excess of No. 1, trisomy for bands 1q25 to 1q32 was noted in the myeloid cells obtained from every one of 35 patients who had various disorders, such as acute leukemia, polycythemia vera, or myelofibrosis. Similar chromosome changes were a consistent finding in various solid tumors as well. This rearrangement was not the result of a particularly fragile site in that region of the chromosome, since the break points in reciprocal translocations that involve No. 1 occurred almost exclusively in the short arm. The nonrandom chromosome changes found in neoplastic cells can now be correlated with the gene loci on these chromosomes or chromosome segments as an attempt is made to identify specific genes that might be related to malignancy.

  5. Prognostic value of partial genetic instability in Neuroblastoma with ? 50% neuroblastic cell content.

    OpenAIRE

    2011-01-01

    Abstract Aims. Better understanding of neuroblastoma genetics will improve with genome-wide techniques. However it is not adequated to perform these analyses in samples with less than 60% neuroblastic cell content. We evaluated the utility of FISH on tissue microarrays (TMA) in detecting partial genetic instability (PGI), focussing on samples with ? 50% neuroblastic cells. Methods and results. Alterations of 11q and 17q were detected by FISH on 369 neuroblastic samples included...

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

    Science.gov (United States)

    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.

  7. Infinite dilution partial molar volumes of platinum(II) 2,4-pentanedionate in supercritical carbon dioxide.

    Science.gov (United States)

    Kong, Chang Yi; Siratori, Tomoya; Funazukuri, Toshitaka; Wang, Guosheng

    2014-10-03

    The effects of temperature and density on retention of platinum(II) 2,4-pentanedionate in supercritical fluid chromatography were investigated at temperatures of 308.15-343.15K and pressure range from 8 to 40MPa by the chromatographic impulse response method with curve fitting. The retention factors were utilized to derive the infinite dilution partial molar volumes of platinum(II) 2,4-pentanedionate in supercritical carbon dioxide. The determined partial molar volumes were small and positive at high pressures but exhibited very large and negative values in the highly compressible near critical region of carbon dioxide. Copyright © 2014 Elsevier B.V. All rights reserved.

  8. HiQ - A high-Q diffractometer for PDF measurements

    International Nuclear Information System (INIS)

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

    2011-01-01

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

  9. CW and AO Q-switched operation of a dual-crystal Tm, Ho:GdVO4 laser pumped by two diodes

    International Nuclear Information System (INIS)

    Li, L J; Bai, Y F; Liu, Y W; He, Z L; Wang, J; Yao, B Q; Zhou, S; Xing, M N

    2013-01-01

    Continuous wave (CW) mode and acousto-optic (AO) Q-switched mode operation of a dual-crystal Tm, Ho:GdVO 4 laser is reported. The dual-crystal Tm, Ho:GdVO 4 laser with output wavelength of 2.05 μm was pumped by two laser diodes (LDs). The Tm, Ho:GdVO 4 crystals were cooled by liquid nitrogen and pumped by two fiber-coupled LDs with a center output wavelength of 801.0 nm. A 20.5 W output power was obtained at a 255 mm physical cavity length in CW mode operation, and a 19.6 W average power was obtained at a pulse repetition frequency (PRF) of 10 kHz with a 19 ns pulse duration. Also, the efficiency loss of the laser is not more than 4.4% from CW mode to Q-switch mode, and the M 2 factor, which is measured by the traveling knife-edge method, does not exceed 1.2. (paper)

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

    OpenAIRE

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

    2006-01-01

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

  11. Experimental cross sections for two-electron capture into nitrogen autoionising states in Nsup(q+) (q=6,7) on He and H/sub 2/ collisions at 10. 5q keV

    Energy Technology Data Exchange (ETDEWEB)

    Bordenave-Montesquieu, A.; Benoit-Cattin, P.; Gleizes, A.; Marrakchi, A.I.; Dousson, S.; Hitz, D.

    1985-07-01

    Singly differential cross sections for two-electron capture into autoionising states (nl,n'l') with n=2,3,4 and n'>=n in Nsup(q+) (q=6,7) on He and H/sub 2/ collisions have been measured at 10,5q ke V collision energy and an observation angle thetasub(lab)=11.6/sup 0/. Total cross sections are estimated assuming isotropic angular distributions. (orig.).

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

    Directory of Open Access Journals (Sweden)

    Joel Frohlich

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

  13. Nucleon form factors at high q2 within constituent quark models

    International Nuclear Information System (INIS)

    Desplanques, B.; Silvestre-Brac, B.; Cano, F.; Noguera, S.; Gonzalez, P.; .

    2000-01-01

    The nucleon form factors are calculated using a non-relativistic description in terms of constituent quarks. The emphasis is put on present numerical methods used to solve the three-body problem in order to reliably predict the expected asymptotic behavior of form factors. Nucleon wave functions obtained in the hyperspherical formalism or employing Faddeev equations have been considered. While a q -8 behavior is expected at high q for a quark-quark force behaving like 1/r at short distances, it is found that the hyper central approximation in the hyperspherical formalism (K = 0) leads to a q -7 behavior. An infinite set of waves would be required to get the correct behavior. Solutions of the Faddeev equations lead to the q -8 behavior. The coefficient of the corresponding term, however, depends on the number of partial waves retained in the Faddeev amplitude. The convergence to the asymptotic behavior has also been studied. Approximate expressions characterizing this one have been derived. From the comparison with the most complete Faddeev calculation, a validity range is inferred for restricted calculations. Refs. 46 (author)

  14. Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.

    Science.gov (United States)

    Pardo, Sherly; Blitman, Netta; Han, Bokyung; Cohen, Ninette; Edelmann, Lisa; Hirschhorn, Kurt

    2008-01-15

    We report on the clinical phenotype of an infant with a duplication of the terminal portion of the long arm of chromosome 3(q26.3-qter) and a deletion of the terminal portion of the short arm of chromosome 4(p16.3) with multiple hemangiomas and a hamartoma. Patients with deletions of distal 4p have the characteristic features of Wolf-Hirschhorn syndrome (WHS); whereas those with the distal duplication of 3q have a well recognized syndrome with some features resembling Cornelia-de Lange syndrome (CdLS). Neither of these recognized chromosomal anomalies has been reported previously to be associated with multiple hemangiomas or other vascular malformations. (c) 2007 Wiley-Liss, Inc.

  15. Download this PDF file

    African Journals Online (AJOL)

    totic apparatus (NUMA) on 11q13 and .... 13. Neg. W. W. AML. 14. M. 14. Neg. Neg. 46,XY. AML. 43. M. 15. Neg. Neg. 46,XX. APL. 42. F. 16. Neg. Neg. 46,XX. AML. 17. F. 17. -. Neg. 46,XX,t(9;22). AML. 23. F. 18. Neg. ... with break in band 5q15 and an extra chromosome 21 (Trisomy 21) accompanied with poor prognosis.

  16. KFM 01A. Q-logging

    International Nuclear Information System (INIS)

    Barton, Nick

    2003-03-01

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

  17. Discrete q-derivatives and symmetries of q-difference equations

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-03-12

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

  18. Familial partial duplication (1)(p21p31)

    Energy Technology Data Exchange (ETDEWEB)

    Hoechstetter, L.; Soukup, S.; Schorry, E.K. [Children`s Hospital Research Foundation, Cincinnati, OH (United States)

    1995-11-20

    A partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30-year-old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Duplication 1p cases are reviewed. 8 refs., 5 figs., 1 tab.

  19. 4th International Conference on Particle Systems and Partial Differential Equations

    CERN Document Server

    Soares, Ana

    2017-01-01

    'This book addresses mathematical problems motivated by various applications in physics, engineering, chemistry and biology. It gathers the lecture notes from the mini-course presented by Jean-Christophe Mourrat on the construction of the various stochastic “basic” terms involved in the formulation of the dynamic Ö4  theory in three space dimensions, as well as selected contributions presented at the fourth meeting on Particle Systems and PDEs, which was held at the University of Minho’s Centre of Mathematics in December 2015. The purpose of the conference was to bring together prominent researchers working in the fields of particle systems and partial differential equations, offering them a forum to present their recent results and discuss their topics of expertise. The meeting was also intended to present to a vast and varied public, including young researchers, the area of interacting particle systems, its underlying motivation, and its relation to partial differential equations.  The book w...

  20. Le diagnostic anténatal de la trisomie 21 par l'hybridation in situ en fluorescence (FISH): à propos des premiers tests réalisés au Maroc

    Science.gov (United States)

    Lamzouri, Afaf; Natiq, Abdelhafid; Tajir, Mariam; Sendid, Mohamed; Sefiani, Abdelaziz

    2012-01-01

    Introduction Le but de cette étude était de présenter les premiers résultats de diagnostic anténatal de la trisomie 21 par la technique d'hybridation in situ en fluorescence (FISH) au Maroc et discuter son intérêt dans le diagnostic rapide de cette aneuploïdie. Méthodes Ce travail a été réalisé chez 23 femmes avec des grossesses à haut risque de trisomie 21. La moyenne d’âge des gestantes étaient de 37,43 ans avec des extrêmes de 21 et 43 ans. Toutes étaient musulmanes mariées, mariage légitimé par la Charia, dont trois mariages consanguins, sauf une originaire de la République Démocratique du Congo qui était chrétienne et concubine. La majorité des femmes étaient fonctionnaires et avaient un niveau de scolarisation moyen à élevé. Toutes les patientes ont bénéficié d'une consultation de génétique médicale au cours de laquelle il leur a été donné des informations sur la technique, son intérêt et ses limites. Il s'agit de femmes enceintes qui avaient soit un âge maternel élevé ou des signes d'appel échographiques et/ ou biochimiques. Une des patientes était porteuse d'une translocation robertsonienne t(14;21) équilibrée. Une amniocentèse a été réalisée chez toutes les gestantes et aucun avortement n'a était induit par ce geste invasif. L’âge gestationnel moyen à la première consultation était de 14 semaines d'aménorrhée (SA) et à l'amniocentèse était de 16 SA et 5 jours. L'analyse FISH a été réalisée, après consentement des couples, sur des cellules non cultivées à partir des échantillons de liquides amniotiques, en utilisant des sondes spécifiques du chromosome 21. Résultats Parmi les 23 patientes qui ont bénéficiées d'un diagnostic anténatal de la trisomie 21 par la technique FISH, nous avons pu rassurer 21 d'entre elles, et nous avons détecté deux cas de trisomie 21 fœtal. Conclusion La technique FISH permet un diagnostic anténatal rapide, en moins de 48h, de la trisomie 21 sur

  1. q-Deformed KP Hierarchy and q-Deformed Constrained KP Hierarchy

    OpenAIRE

    He, Jingsong; Li, Yinghua; Cheng, Yi

    2006-01-01

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

  2. Assignment of FUT8 to chicken chromosome band 5q1.4 and to human chromosome 14q23.2-->q24.1 by in situ hybridization. Conserved and compared synteny between human and chicken

    NARCIS (Netherlands)

    Coullin, Ph.; Crooijmans, R.P.M.A.; Groenen, M.A.M.; Heilig, R.; Mollicone, R.; Oriol, R.; Candelier, J.J.

    2002-01-01

    The human FUT8 gene is implicated in crucial developmental stages and is overexpressed in some tumors and other malignant diseases. Based on three different experiments we have assigned the FUT8 gene to chromosome bands 14q23.2 --> q24.1 and not 14q24.3 as previously shown (Yamaguchi et al.,

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

    International Nuclear Information System (INIS)

    Dai Qirun; Zhao Shusong

    1995-01-01

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

  4. Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4.

    Science.gov (United States)

    Filges, Isabel; Bischof-Renner, Andrea; Röthlisberger, Benno; Potthoff, Christian; Glanzmann, René; Günthard, Joëlle; Schneider, Jacques; Huber, Andreas R; Zumsteg, Urs; Miny, Peter; Szinnai, Gabor

    2012-02-01

    Clinical presentation of hypopituitarism in the neonate may be variable, ranging from absent to severe nonspecific symptoms and may be life-threatening in patients with adrenocorticotropic hormone deficiency. The LIM homeobox gene 4 (LHX4) transcription factor regulates early embryonic development of the anterior pituitary gland. Autosomal dominant mutations in LHX4 cause congenital hypopituitarism with variable combined pituitary hormone deficiency (CPHD). We report on a neonate with unexplained heart failure and minor physical anomalies, suggesting a midline defect. She was diagnosed with complete CPHD. Cardiac function was rescued by replacement with hydrocortisone and thyroxine; hypoglycaemia stopped under growth hormone therapy. Magnetic resonance imaging revealed a dysgenetic pituitary gland suggesting an early developmental defect. Array comparative genomic hybridization showed a maternally inherited 1.5-megabase microdeletion in 1q25.2q25.3, including the LHX4 gene. Haploinsufficiency of LHX4 likely explains the predominant pituitary phenotype in the proposita and we suggest variable intrafamilial penetrance of the inherited microdeletion. To the best of our knowledge, we are the first to report on heart failure as a rare nonspecific symptom of treatable CPHD in the newborn. Variably penetrant pituitary insufficiency, including this severe and atypical presentation, can be correlated with LHX4 insufficiency and highlights the role of LHX4 for pituitary development.

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

    International Nuclear Information System (INIS)

    Hofmann, W.

    1986-07-01

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

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

    Directory of Open Access Journals (Sweden)

    Karine Sampaio LIMA

    2014-04-01

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

  7. Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.

    Science.gov (United States)

    Titheradge, Hannah; Togneri, Fiona; McMullan, Dominic; Brueton, Louise; Lim, Derek; Williams, Denise

    2014-07-01

    Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder with variable expressivity. It is characterized by dysgenesis of the anterior segment of the eye together with dental, cardiac, and umbilical anomalies. There is a high incidence of secondary high tension glaucoma. It is a genetically heterogeneous condition due to deletion or mutations of FOXC1 (6p25) or PITX2 (4q25). We report on four unrelated patients with overlapping microdeletions encompassing PITX2 at 4q25. We compare the genotypes and phenotypes of these newly described ARS patients and discuss the involvement of contiguous genes. Patients 1, 2, and 3 had mild learning difficulties, not typically seen in patients with ARS. We implicate the adjacent neuronally expressed genes; NEUROG2, UGT8, NDST3, and PRSS12 as potentially causal. Our findings support the use of microarray analysis in ARS patients for full prognostic information in infants presenting with ARS-like phenotypes. © 2014 Wiley Periodicals, Inc.

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

    International Nuclear Information System (INIS)

    Dobrev, V.K.

    1997-09-01

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

  9. Immunomagnetic separation combined with RT-qPCR for determining the efficacy of disinfectants against human noroviruses

    Directory of Open Access Journals (Sweden)

    Pengbo Liu

    2015-03-01

    Full Text Available Summary: Little is known about the effectiveness of disinfectants against human noroviruses (NoV partially because human NoV cannot be routinely cultured in laboratory. The objective of this study was to develop a NoV monoclonal antibody-conjugated immunomagnetic separation (IMS procedure combined with real-time reverse transcription polymerase chain reaction (RT-qPCR assays to study the in vitro efficacy of disinfectants against human NoV. Monoclonal antibodies against Norwalk virus (NV, GI.1 and NoV GII.4 were produced using unique NoV capsid proteins, and the antibodies were conjugated to magnetic Dynalbeads. The immunomagnetic beads were used to simultaneously capture intact NoV in samples and effectively remove PCR inhibitors. We examined the efficacy of ethanol, sodium hypochlorite, nine commercially available disinfectants, and one prototype disinfectant using the IMS/RT-qPCR. The sensitivity of this procedure was approximately 100 virus particles for both the NV and GII.4 viruses. The average log reductions in in vitro activities varied between disinfectants. The prototype disinfectant produced an average 3.19-log reduction in NV and a 1.38-log reduction in GII.4. The prototype disinfectant is promising of inactivating NoV. This method can be used to evaluate in vitro activity of disinfectants against human NoV. The IMS/RT-qPCR method is promising as an effective method to remove PCR inhibitors in disinfectants and enable the evaluation of the efficacy of disinfectants. Keywords: Disinfectant, Norovirus, Immunomagnetic separation, Real-time RT-PCR, PCR inhibition

  10. A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a ...

    Indian Academy of Sciences (India)

    Both are normal in phenotype and intelligence. His mother ... Bacterial artificial chromosome (BAC) clone RP11-159A22. (4q35.1) was ... However, we can not exclude the impacts ... researchers of State Key Laboratory of Medical Genetics.

  11. R248Q mutation--Beyond p53-DNA binding.

    Science.gov (United States)

    Ng, Jeremy W K; Lama, Dilraj; Lukman, Suryani; Lane, David P; Verma, Chandra S; Sim, Adelene Y L

    2015-12-01

    R248 in the DNA binding domain (DBD) of p53 interacts directly with the minor groove of DNA. Earlier nuclear magnetic resonance (NMR) studies indicated that the R248Q mutation resulted in conformation changes in parts of DBD far from the mutation site. However, how information propagates from the mutation site to the rest of the DBD is still not well understood. We performed a series of all-atom molecular dynamics (MD) simulations to dissect sterics and charge effects of R248 on p53-DBD conformation: (i) wild-type p53 DBD; (ii) p53 DBD with an electrically neutral arginine side-chain; (iii) p53 DBD with R248A; (iv) p53 DBD with R248W; and (v) p53 DBD with R248Q. Our results agree well with experimental observations of global conformational changes induced by the R248Q mutation. Our simulations suggest that both charge- and sterics are important in the dynamics of the loop (L3) where the mutation resides. We show that helix 2 (H2) dynamics is altered as a result of a change in the hydrogen bonding partner of D281. In turn, neighboring L1 dynamics is altered: in mutants, L1 predominantly adopts the recessed conformation and is unable to interact with the major groove of DNA. We focused our attention the R248Q mutant that is commonly found in a wide range of cancer and observed changes at the zinc-binding pocket that might account for the dominant negative effects of R248Q. Furthermore, in our simulations, the S6/S7 turn was more frequently solvent exposed in R248Q, suggesting that there is a greater tendency of R248Q to partially unfold and possibly lead to an increased aggregation propensity. Finally, based on the observations made in our simulations, we propose strategies for the rescue of R248Q mutants. © 2015 Wiley Periodicals, Inc.

  12. Multiple blocking sets in PG(n,q), n>=3

    DEFF Research Database (Denmark)

    Barat, Janos

    2004-01-01

    This article discusses minimal s-fold blocking sets B in PG (n, q), q = ph, p prime, q > 661, n > 3, of size |B| > sq + cp q2/3 - (s - 1) (s - 2)/2 (s > min (cp q1/6, q1/4/2)). It is shown that these s-fold blocking sets contain the disjoint union of a collection of s lines and/or Baer subplanes....... To obtain these results, we extend results of Blokhuis–Storme–Szönyi on s-fold blocking sets in PG(2, q) to s-fold blocking sets having points to which a multiplicity is given. Then the results in PG(n, q), n ≥ 3, are obtained using projection arguments. The results of this article also improve results...

  13. Seasonal evolution of S q current system at sub-auroral latitude

    Science.gov (United States)

    Vichare, Geeta; Rawat, Rahul; Hanchinal, A.; Sinha, A. K.; Dhar, A.; Pathan, B. M.

    2012-11-01

    The quiet-time (Σ K p ≤ 3) daily variations of the geomagnetic field at the Indian Antarctic station, Maitri (Geographic Coord.: 70.75°S, 11.73°E; Geomagnetic Coord.: 66.84°S, 56.29°E) during two consecutive years of a solar minimum are considered in order to investigate the characteristics of the solar quiet ( S q) current system. The present work reports the signatures of the south limb of the S q current loop of the southern hemisphere over a sub-auroral station. It is observed that the seasonal variation of the S q current strength over Maitri is strongest during the summer months and weakest during the winter months. In spite of the total darkness during the winter months, an S q pattern is identified at Maitri. The range of the horizontal field variation in the daily S q pattern during summer is one order higher than that during winter. An interesting feature regarding the phase of the local time variation in the seasonal pattern is found here. A sharp shift in the time of the peak S q current to later local times (> 1 hour per month) is observed during January-February and July-August, which may correspond to the transition from the complete presence, or absence, of sunlight to partial sunlight. The differences in the incoming solar UV radiation during such transitions can cause a sudden change in the local ionospheric conductivity pattern, and can also trigger some unusual thermo-tidal activity, that might be responsible for modifying the global S q pattern.

  14. High-energy azimuthally polarized laser beam generation from an actively Q-switched Nd:YAG laser with c-cut YVO4 crystal

    Science.gov (United States)

    Guo, Jing; Zhang, Baofu; Jiao, Zhongxing; He, Guangyuan; Wang, Biao

    2018-05-01

    A high-energy, azimuthally polarized (AP) and actively Q-switched Nd:YAG laser is demonstrated. The thermal bipolar lensing effect in the Nd:YAG laser rod is used as a polarization discriminator, and a c-cut YVO4 crystal is inserted into the laser cavity to increase the mode-selecting ability of the cavity for AP mode. The laser generated AP pulses with maximum pulse energy as high as 4.2 mJ. To the best of our knowledge, this is the highest pulse energy obtained from an actively Q-switched AP laser. The pulse energy remained higher than 1 mJ over a wide range of repetition rates from 5 kHz to 25 kHz.

  15. Exotic tetraquark states with the qq anti Q anti Q configuration

    Energy Technology Data Exchange (ETDEWEB)

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

    2017-10-15

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

  16. Giant partially thrombosed 4 th ventricular posterior inferior cerebellar artery aneurysm; microsurgical management

    Directory of Open Access Journals (Sweden)

    Forhad Hossain Chowdhury

    2014-01-01

    Full Text Available A 42-year-old woman presented with a 3-month history of progressive occipital headache, vomiting, walking difficulty, and repeated fall. She had no history of sudden and severe headache. She had positive cerebellar signs, predominantly on the right side. Computerized tomography (CT scan, CT angiogram, and magnetic resonance image (MRI of the brain showed suspected partially thrombosed giant 4 th ventricular posterior inferior cerebellar artery aneurysm. Patient developed severe hypersensitivity reaction during both CT scan and MRI after contrast injection. Though needed, digital subtraction angiogram (DSA of cerebral vessels was not done. The aneurysm was managed by microsurgical clipping of the aneurysm neck and partial excision of thrombosed aneurysm. Here, we report the details of management of these difficult giant aneurysm without DSA.

  17. Coenzyme Q Biosynthesis: Evidence for a Substrate Access Channel in the FAD-Dependent Monooxygenase Coq6.

    Directory of Open Access Journals (Sweden)

    Alexandre Ismail

    2016-01-01

    Full Text Available Coq6 is an enzyme involved in the biosynthesis of coenzyme Q, a polyisoprenylated benzoquinone lipid essential to the function of the mitochondrial respiratory chain. In the yeast Saccharomyces cerevisiae, this putative flavin-dependent monooxygenase is proposed to hydroxylate the benzene ring of coenzyme Q (ubiquinone precursor at position C5. We show here through biochemical studies that Coq6 is a flavoprotein using FAD as a cofactor. Homology models of the Coq6-FAD complex are constructed and studied through molecular dynamics and substrate docking calculations of 3-hexaprenyl-4-hydroxyphenol (4-HP6, a bulky hydrophobic model substrate. We identify a putative access channel for Coq6 in a wild type model and propose in silico mutations positioned at its entrance capable of partially (G248R and L382E single mutations or completely (a G248R-L382E double-mutation blocking access to the channel for the substrate. Further in vivo assays support the computational predictions, thus explaining the decreased activities or inactivation of the mutated enzymes. This work provides the first detailed structural information of an important and highly conserved enzyme of ubiquinone biosynthesis.

  18. Comparative genomic hybridization (CGH) analysis of stage 4 neuroblastoma reveals high frequency of 11q deletion in tumors lacking MYCN amplification

    NARCIS (Netherlands)

    Plantaz, D.; Vandesompele, J.; van Roy, N.; Lastowska, M.; Bown, N.; Combaret, V.; Favrot, M. C.; Delattre, O.; Michon, J.; Bénard, J.; Hartmann, O.; Nicholson, J. C.; Ross, F. M.; Brinkschmidt, C.; Laureys, G.; Caron, H.; Matthay, K. K.; Feuerstein, B. G.; Speleman, F.

    2001-01-01

    We have studied the occurrence and association of 11q deletions with other chromosomal imbalances in Stage 4 neuroblastomas. To this purpose we have performed comparative genomic hybridization (CGH) analysis on 50 Stage 4 neuroblastomas and these data were analyzed together with those from 33

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

    NARCIS (Netherlands)

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

    2010-01-01

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

  20. Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

    Directory of Open Access Journals (Sweden)

    Robberecht Caroline

    2012-04-01

    Full Text Available Abstract Structural copy number variation (CNV is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found in up to one percent of both the healthy and patient populations. It is generally accepted that such constitutional mosaicisms are derived from postzygotic somatic mutations. However, few studies have tested this assumption. Here we determined the origin of CNVs which coexist with a normal cell line in nine individuals. We show that in 2/9 the CNV originated during meiosis. The existence of two cell lines with 46 chromosomes thus resulted from two parallel trisomy rescue events during postzygotic mitoses.

  1. Atrial Fibrillation associated chromosome 4q25 variants are not associated with PITX2c expression in human adult left atrial appendages.

    Directory of Open Access Journals (Sweden)

    Shamone R Gore-Panter

    Full Text Available Atrial Fibrillation (AF, the most common sustained arrhythmia, has a strong genetic component, but the mechanism by which common genetic variants lead to increased AF susceptibility is unknown. Genome-wide association studies (GWAS have identified that the single nucleotide polymorphisms (SNPs most strongly associated with AF are located on chromosome 4q25 in an intergenic region distal to the PITX2 gene. Our objective was to determine whether the AF-associated SNPs on chromosome 4q25 were associated with PITX2c expression in adult human left atrial appendages. Analysis of a lone AF GWAS identified four independent AF risk SNPs at chromosome 4q25. Human adult left atrial appendage tissue was obtained from 239 subjects of European Ancestry and used for SNP analysis of genomic DNA and determination of PITX2c RNA expression levels by quantitative PCR. Subjects were divided into three groups based on their history of AF and pre-operative rhythm. AF rhythm subjects had higher PITX2c expression than those with history of AF but in sinus rhythm. PITX2c expression was not associated with the AF risk SNPs in human adult left atrial appendages in all subjects combined or in each of the three subgroups. However, we identified seven SNPs modestly associated with PITX2c expression located in the introns of the ENPEP gene, ∼54 kb proximal to PITX2. PITX2c expression in human adult left atrial appendages is not associated with the chromosome 4q25 AF risk SNPs; thus, the mechanism by which these SNPs are associated with AF remains enigmatic.

  2. Efficiency and Reliability of Laparoscopic Partial Nephrectomy for Renal Tumors Larger than 4 cm

    Directory of Open Access Journals (Sweden)

    Faruk Özgör

    2015-03-01

    Full Text Available Aim: To evaluate safety and efficiency of laparoscopic partial nephrectomy for renal tumors larger than 4 cm. Methods: We retrospectivelly evaluated the medical records of 65 patients who underwent laparascopic partial nephrectomy between May 2009 and June 2013 in our clinic. The patients were divided into two groups according to tumor size. Patients with a tumor 4 cm were included in group 1 (n=45 and group 2 (n=20, respectively. Demographic, perioperative and postoperative parameters were compared between the groups. Histopathological examination and surgical margin status were also evaluated. Results: The mean age of the patients was 59.2±10.9 (range: 26- 81 years. The mean tumor size and the mean RENAL nephrometry score were significantly higher in group 2 than in group 1. The mean operation time and warm ischemia time were similar between groups but estimated blood loss and transfusion requirement were significantly higher in group 2. Convertion to open surgery was seen two patients in group 2 and one patient in group 1. Only one patient underwent radical nephrectomy for uncontrolled bleeding in group 2. There was no difference in preoperative and 3-month postoperative serum creatinine levels between the groups. The incidence of positive surgical margin was 0% and 5% in group 1 and group 2, respectively. Conclusion: Laparoscopic partial nephrectomy for renal tumors is an effective and feasible procedure with acceptable oncologic results. However, tranfusion rate and requiremet of pelvicaliceal system repair were more common in patients with tumor >4 cm. (The Medical Bulletin of Haseki 2015; 53:30-5

  3. Structural, electronic and magnetic properties of partially inverse spinel CoFe2O4: a first-principles study

    International Nuclear Information System (INIS)

    Hou, Y H; Liu, Z W; Yu, H Y; Zhong, X C; Qiu, W Q; Zeng, D C; Wen, L S; Zhao, Y J

    2010-01-01

    Partially inverse spinel CoFe 2 O 4 , which may be prepared through various heat treatments, differs remarkably from the ideal inverse spinel in many properties. The structure of partially inverse spinel CoFe 2 O 4 as well as its electronic and magnetic properties through a systemic theoretical calculation of (Co 1-x Fe x ) Tet (Co x Fe 2-x ) Oct O 4 (x = 0, 0.25, 0.5, 0.75 and 1.0) have been investigated by the generalized gradient approximation (GGA) + U approach. It is found that the Co and Fe ions prefer their high spin configurations with higher spin moments at octahedral sites in all the studied cases, in line with experimental observations. The Co ions at the octahedral sites favour being far away from each other in the partial inverse spinels, which also show half metallicity at certain inversion degrees.

  4. Promotion of growth by Coenzyme Q10 is linked to gene expression in C. elegans.

    Science.gov (United States)

    Fischer, Alexandra; Niklowitz, Petra; Menke, Thomas; Döring, Frank

    2014-10-03

    Coenzyme Q (CoQ, ubiquinone) is an essential component of the respiratory chain, a cofactor of pyrimidine biosynthesis and acts as an antioxidant in extra mitochondrial membranes. More recently CoQ has been identified as a modulator of apoptosis, inflammation and gene expression. CoQ deficient Caenorhabditis elegans clk-1 mutants show several phenotypes including a delayed postembryonic growth. Using wild type and two clk-1 mutants, here we established an experimental set-up to study the consequences of endogenous CoQ deficiency or exogenous CoQ supply on gene expression and growth. We found that a deficiency of endogenous CoQ synthesis down-regulates a cluster of genes that are important for growth (i.e., RNA polymerase II, eukaryotic initiation factor) and up-regulates oxidation reactions (i.e., cytochrome P450, superoxide dismutase) and protein interactions (i.e., F-Box proteins). Exogenous CoQ supply partially restores the expression of these genes as well as the growth retardation of CoQ deficient clk-1 mutants. On the other hand exogenous CoQ supply does not alter the expression of a further sub-set of genes. These genes are involved in metabolism (i.e., succinate dehydrogenase complex), cell signalling or synthesis of lectins. Thus, our work provides a comprehensive overview of genes which can be modulated in their expression by endogenous or exogenous CoQ. As growth retardation in CoQ deficiency is linked to the gene expression profile we suggest that CoQ promotes growth via gene expression. Copyright © 2014 Elsevier Inc. All rights reserved.

  5. Soliton solutions for Q3

    International Nuclear Information System (INIS)

    Atkinson, James; Nijhoff, Frank; Hietarinta, Jarmo

    2008-01-01

    We construct N-soliton solutions to the equation called Q3 in the recent Adler-Bobenko-Suris classification. An essential ingredient in the construction is the relationship of (Q3) δ=0 to the equation proposed by Nijhoff, Quispel and Capel in 1983 (the NQC equation). This latter equation has two extra parameters, and depending on their sign choices we get a 4-to-1 relationship from NQC to (Q3) δ=0 . This leads to a four-term background solution, and then to a 1-soliton solution using a Baecklund transformation. Using the 1SS as a guide allows us to get the N-soliton solution in terms of the τ-function of the Hirota-Miwa equation. (fast track communication)

  6. On massless representations of the Q-deformed Poincare algebra

    International Nuclear Information System (INIS)

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

    1993-01-01

    This talk is devoted to the construction of massless representations of the q-deformed Poincare algebra. In section 2 we give Hilbert space representations of the SL q (2, C)-covariant quantum space. We then show in the next section how the generators of the q-Poincare algebra can be expressed in terms of operators which live in the light cone. The q-deformed massless one-particle states are considered in section 4. (orig.)

  7. Continuous-wave and passively Q-switched Nd:YVO4 laser at 1085 nm

    Science.gov (United States)

    Lin, Hongyi; Liu, Hong; Huang, Xiaohua; Zhang, Jiyan

    2017-11-01

    An admirable and efficient Nd:YVO4 laser at 1085 nm is demonstrated with a compact 35 mm plano-plano cavity. A chosen narrow bandpass filter with high-transmittance (HT) coating at 1064 nm (T=96%) and optimized part-reflection (PR) coating at 1085 nm (T=15%) is used as the output coupler. In the continuous-wave (CW) regime, the maximum output power reaches 3110 mW at the pump power of 11.41 W. Based on a Cr:YAG crystal with initial-transmittance of 91%, the first passively Q-switched Nd:YVO4 laser at 1085 nm is achieved. When the pump power is changed from the threshold of 4.50 to 6.08 W, the dual-wavelength lines at 1064 and 1085 nm are generated simultaneously. However, at the pump power of above 6.08 W, the single-wavelength line at 1085 nm is achieved. The largest output power, the highest peak power, and the narrowest pulse width are 1615 mW, 878 W and 26.2 ns, respectively.

  8. Approximate Solutions of Nonlinear Partial Differential Equations by Modified q-Homotopy Analysis Method

    Directory of Open Access Journals (Sweden)

    Shaheed N. Huseen

    2013-01-01

    Full Text Available A modified q-homotopy analysis method (mq-HAM was proposed for solving nth-order nonlinear differential equations. This method improves the convergence of the series solution in the nHAM which was proposed in (see Hassan and El-Tawil 2011, 2012. The proposed method provides an approximate solution by rewriting the nth-order nonlinear differential equation in the form of n first-order differential equations. The solution of these n differential equations is obtained as a power series solution. This scheme is tested on two nonlinear exactly solvable differential equations. The results demonstrate the reliability and efficiency of the algorithm developed.

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

    OpenAIRE

    Hinkes, Bernward; Hilgers, Karl F; Bolz, Hanno J; Goppelt-Struebe, Margarete; Amann, Kerstin; Nagl, Sandra; Bergmann, Carsten; Rascher, Wolfgang; Eckardt, Kai-Uwe; Jacobi, Johannes

    2012-01-01

    Abstract Background Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH), which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder. Repeatedly she suffered from k...

  10. q-Bernoulli numbers and q-Bernoulli polynomials revisited

    Directory of Open Access Journals (Sweden)

    Kim Taekyun

    2011-01-01

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

  11. A measurement of the photon structure function F$_{2}^{\\gamma}$ at an average Q$^{2}$ of 12 GeV$^{2}$/c$^{4}$ : results from DELPHI

    CERN Document Server

    Abreu, P; Adye, T; Agasi, E; Ajinenko, I; Aleksan, Roy; Alekseev, G D; Allport, P P; Almehed, S; Alvsvaag, S J; Amaldi, Ugo; Amato, S; Andreazza, A; Andrieux, M L; Antilogus, P; Apel, W D; Arnoud, Y; Augustin, J E; Augustinus, A; Baillon, Paul; Bambade, P; Barão, F; Barate, R; Bardin, Dimitri Yuri; Barker, G J; Baroncelli, A; Bärring, O; Barrio, J A; Bartl, Walter; Bates, M J; Battaglia, Marco; Batyunya, B; Baubillier, M; Baudot, J; Becks, K H; Begalli, M; Beillière, P; Belokopytov, Yu A; Belous, K S; Benvenuti, Alberto C; Berggren, M; Bertrand, D; Bianchi, F; Bigi, M; Bilenky, S M; Billoir, P; Bloch, D; Blume, M; Blyth, S; Bocci, V; Bolognese, T; Bonesini, M; Bonivento, W; Booth, P S L; Borisov, G; Bosio, C; Bosworth, S; Botner, O; Bouquet, B; Bourdarios, C; Bowcock, T J V; Bozzo, M; Branchini, P; Brand, K D; Brenke, T; Brenner, R A; Bricman, C; Brillault, L; Brown, R C A; Brückman, P; Brunet, J M; Bugge, L; Buran, T; Burgsmüller, T; Buschmann, P; Buys, A; Caccia, M; Calvi, M; Camacho-Rozas, A J; Camporesi, T; Canale, V; Canepa, M; Cankocak, K; Cao, F; Carena, F; Carrilho, P; Carroll, L; Caso, Carlo; Castillo-Gimenez, M V; Cattai, A; Cavallo, F R; Cerrito, L; Chabaud, V; Charpentier, P; Chaussard, L; Chauveau, J; Checchia, P; Chelkov, G A; Chierici, R; Chliapnikov, P V; Chochula, P; Chorowicz, V; Cindro, V; Collins, P; Contreras, J L; Contri, R; Cortina, E; Cosme, G; Cossutti, F; Crawley, H B; Crennell, D J; Crosetti, G; Cuevas-Maestro, J; Czellar, S; Dahl-Jensen, Erik; Dahm, J; D'Almagne, B; Dam, M; Damgaard, G; Daum, A; Dauncey, P D; Davenport, Martyn; Da Silva, W; Defoix, C; Della Ricca, G; Delpierre, P A; Demaria, N; De Angelis, A; De Boeck, H; de Boer, Wim; De Brabandere, S; De Clercq, C; La Vaissière, C de; De Lotto, B; De Min, A; De Paula, L S; De Saint-Jean, C; Dijkstra, H; Di Ciaccio, Lucia; Djama, F; Dolbeau, J; Dönszelmann, M; Doroba, K; Dracos, M; Drees, J; Drees, K A; Dris, M; Dufour, Y; Dupont, F; Edsall, D M; Ehret, R; Eigen, G; Ekelöf, T J C; Ekspong, Gösta; Elsing, M; Engel, J P; Ershaidat, N; Erzen, B; Espirito-Santo, M C; Falk, E; Fassouliotis, D; Feindt, Michael; Fenyuk, A; Ferrer, A; Filippas-Tassos, A; Firestone, A; Föth, H; Fokitis, E; Fontanelli, F; Formenti, F; Franek, B J; Frenkiel, P; Fries, D E C; Frodesen, A G; Frühwirth, R; Fulda-Quenzer, F; Fürstenau, H; Fuster, J A; Galloni, A; Gamba, D; Gandelman, M; García, C; García, J; Gaspar, C; Gasparini, U; Gavillet, P; Gazis, E N; Gelé, D; Gerber, J P; Gibbs, M; Gillespie, D; Gokieli, R; Golob, B; Gopal, Gian P; Gorn, L; Górski, M; Guz, Yu; Gracco, Valerio; Graziani, E; Grosdidier, G; Gunnarsson, P; Günther, M; Guy, J; Haedinger, U; Hahn, F; Hahn, M; Hahn, S; Hajduk, Z; Hallgren, A; Hamacher, K; Hao, W; Harris, F J; Hedberg, V; Hernández, J J; Herquet, P; Herr, H; Hessing, T L; Higón, E; Hilke, Hans Jürgen; Hill, T S; Holmgren, S O; Holt, P J; Holthuizen, D J; Houlden, M A; Hrubec, Josef; Huet, K; Hultqvist, K; Ioannou, P; Jackson, J N; Jacobsson, R; Jalocha, P; Janik, R; Jarlskog, G; Jarry, P; Jean-Marie, B; Johansson, E K; Jönsson, L B; Jönsson, P E; Joram, Christian; Juillot, P; Kaiser, M; Kalmus, George Ernest; Kapusta, F; Karlsson, M; Karvelas, E; Katsanevas, S; Katsoufis, E C; Keränen, R; Khomenko, B A; Khovanskii, N N; King, B J; Kjaer, N J; Klein, H; Klovning, A; Kluit, P M; Köhne, J H; Köne, B; Kokkinias, P; Koratzinos, M; Korcyl, K; Kostyukhin, V; Kourkoumelis, C; Kuznetsov, O; Kramer, P H; Krammer, Manfred; Kreuter, C; Królikowski, J; Kronkvist, I J; Krumshtein, Z; Krupinski, W; Kubinec, P; Kucewicz, W; Kurvinen, K L; Lacasta, C; Laktineh, I; Lamblot, S; Lamsa, J; Lanceri, L; Lane, D W; Langefeld, P; Lapin, V; Last, I; Laugier, J P; Lauhakangas, R; Leder, Gerhard; Ledroit, F; Lefébure, V; Legan, C K; Leitner, R; Lemoigne, Y; Lemonne, J; Lenzen, G; Lepeltier, V; Lesiak, T; Liko, D; Lindner, R; Lipniacka, A; Lippi, I; Lörstad, B; Lokajícek, M; Loken, J G; López, J M; López-Fernandez, A; López-Aguera, M A; Loukas, D; Lutz, P; Lyons, L; MacNaughton, J N; Maehlum, G; Maio, A; Malychev, V; Mandl, F; Marco, J; Maréchal, B; Margoni, M; Marin, J C; Mariotti, C; Markou, A; Maron, T; Martínez-Rivero, C; Martínez-Vidal, F; Martí i García, S; Matorras, F; Matteuzzi, C; Matthiae, Giorgio; Mazzucato, M; McCubbin, M L; McKay, R; McNulty, R; Medbo, J; Meroni, C; Meyer, W T; Myagkov, A; Michelotto, M; Migliore, E; Mirabito, L; Mjörnmark, U; Moa, T; Møller, R; Mönig, K; Monge, M R; Morettini, P; Müller, H; Mundim, L M; Murray, W J; Muryn, B; Myatt, Gerald; Naraghi, F; Navarria, Francesco Luigi; Navas, S; Negri, P; Némécek, S; Neumann, W; Neumeister, N; Nicolaidou, R; Nielsen, B S; Nieuwenhuizen, M; Nikolaenko, V; Niss, P; Nomerotski, A; Normand, Ainsley; Oberschulte-Beckmann, W; Obraztsov, V F; Olshevskii, A G; Onofre, A; Orava, Risto; Österberg, K; Ouraou, A; Paganini, P; Paganoni, M; Pagès, P; Palka, H; Papadopoulou, T D; Pape, L; Parkes, C; Parodi, F; Passeri, A; Pegoraro, M; Peralta, L; Pernegger, H; Pernicka, Manfred; Perrotta, A; Petridou, C; Petrolini, A; Phillips, H T; Piana, G; Pierre, F; Pimenta, M; Plaszczynski, S; Podobrin, O; Pol, M E; Polok, G; Poropat, P; Pozdnyakov, V; Prest, M; Privitera, P; Pukhaeva, N; Pullia, Antonio; Radojicic, D; Ragazzi, S; Rahmani, H; Rames, J; Ratoff, P N; Read, A L; Reale, M; Rebecchi, P; Redaelli, N G; Regler, Meinhard; Reid, D; Renton, P B; Resvanis, L K; Richard, F; Richardson, J; Rídky, J; Rinaudo, G; Ripp, I; Romero, A; Roncagliolo, I; Ronchese, P; Roos, L; Rosenberg, E I; Rosso, E; Roudeau, Patrick; Rovelli, T; Rückstuhl, W; Ruhlmann-Kleider, V; Ruiz, A; Rybicki, K; Saarikko, H; Sacquin, Yu; Sadovskii, A; Sajot, G; Salt, J; Sánchez, J; Sannino, M; Schneider, H; Schyns, M A E; Sciolla, G; Scuri, F; Sedykh, Yu; Segar, A M; Seitz, A; Sekulin, R L; Shellard, R C; Siccama, I; Siegrist, P; Simonetti, S; Simonetto, F; Sissakian, A N; Sitár, B; Skaali, T B; Smadja, G; Smirnov, N; Smirnova, O G; Smith, G R; Sosnowski, R; Souza-Santos, D; Spassoff, Tz; Spiriti, E; Sponholz, P; Squarcia, S; Stanescu, C; Stapnes, Steinar; Stavitski, I; Stepaniak, K; Stichelbaut, F; Stocchi, A; Strauss, J; Strub, R; Stugu, B; Szczekowski, M; Szeptycka, M; Tabarelli de Fatis, T; Tavernet, J P; Chikilev, O G; Tilquin, A; Timmermans, J; Tkatchev, L G; Todorov, T; Toet, D Z; Tomaradze, A G; Tomé, B; Tortora, L; Tranströmer, G; Treille, D; Trischuk, W; Tristram, G; Trombini, A; Troncon, C; Tsirou, A L; Turluer, M L; Tyapkin, I A; Tyndel, M; Tzamarias, S; Überschär, B; Ullaland, O; Uvarov, V; Valenti, G; Vallazza, E; Van der Velde, C; van Apeldoorn, G W; van Dam, P; Van Doninck, W K; Van Eldik, J; Vassilopoulos, N; Vegni, G; Ventura, L; Venus, W A; Verbeure, F; Verlato, M; Vertogradov, L S; Vilanova, D; Vincent, P; Vitale, L; Vlasov, E; Vodopyanov, A S; Vrba, V; Wahlen, H; Walck, C; Waldner, F; Weierstall, M; Weilhammer, Peter; Wetherell, Alan M; Wicke, D; Wickens, J H; Wielers, M; Wilkinson, G R; Williams, W S C; Winter, M; Witek, M; Woschnagg, K; Yip, K; Yushchenko, O P; Zach, F; Zacharatou-Jarlskog, C; Zalewska-Bak, A; Zalewski, Piotr; Zavrtanik, D; Zevgolatakos, E; Zimin, N I; Zito, M; Zontar, D; Zuberi, R; Zucchelli, G C; Zumerle, G

    1996-01-01

    The hadronic photon structure function F_{2}^{\\gamma} has been measured in the Q^{2} range from 4 to 30~GeV^2/c^{4} and down to x values of order 0.001, using data taken with the DELPHI detector at LEP between 1991 and 1993. A comparison is made with several F_{2}^{\\gamma} parameterizations with special emphasis on their low x behaviour. A result on the Q^{2} evolution of F_{2}^{\\gamma} is presented.

  12. The full spectrum of AdS5/CFT4 I: representation theory and one-loop Q-system

    Science.gov (United States)

    Marboe, Christian; Volin, Dmytro

    2018-04-01

    With the formulation of the quantum spectral curve for the AdS5/CFT4 integrable system, it became potentially possible to compute its full spectrum with high efficiency. This is the first paper in a series devoted to the explicit design of such computations, with no restrictions to particular subsectors being imposed. We revisit the representation theoretical classification of possible states in the spectrum and map the symmetry multiplets to solutions of the quantum spectral curve at zero coupling. To this end it is practical to introduce a generalisation of Young diagrams to the case of non-compact representations and define algebraic Q-systems directly on these diagrams. Furthermore, we propose an algorithm to explicitly solve such Q-systems that circumvents the traditional usage of Bethe equations and simplifies the computation effort. For example, our algorithm quickly obtains explicit analytic results for all 495 multiplets that accommodate single-trace operators in N=4 SYM with classical conformal dimension up to \\frac{13}{2} . We plan to use these results as the seed for solving the quantum spectral curve perturbatively to high loop orders in the next paper of the series.

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

    International Nuclear Information System (INIS)

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

    2004-01-01

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

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

    Science.gov (United States)

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

    2014-06-01

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

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

    OpenAIRE

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

    2016-01-01

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

  16. Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk

    NARCIS (Netherlands)

    X. Guo (Xingyi); J. Long (Jirong); C. Zeng (Chenjie); K. Michailidou (Kyriaki); M. Ghoussaini (Maya); M.K. Bolla (Manjeet); Q. Wang (Qing); R.L. Milne (Roger L.); X.-O. Shu (Xiao-Ou); Q. Cai (Qiuyin); J. Beesley (Jonathan); S. Kar (Siddhartha); I.L. Andrulis (Irene); H. Anton-Culver (Hoda); V. Arndt (Volker); M.W. Beckmann (Matthias); A. Beeghly-Fadiel (Alicia); J. Benítez (Javier); W.J. Blot (William); N.V. Bogdanova (Natalia); S.E. Bojesen (Stig); H. Brauch (Hiltrud); H. Brenner (Hermann); L.A. Brinton (Louise); A. Broekss (Annegien); T. Brüning (Thomas); B. Burwinkel (Barbara); H. Cai (Hui); S. Canisius (Sander); J. Chang-Claude (Jenny); J.-Y. Choi (J.); F.J. Couch (Fergus); A. Cox (Angela); S.S. Cross (Simon); K. Czene (Kamila); H. Darabi (Hatef); P. Devilee (Peter); A. Droit (Arnaud); T. Dörk (Thilo); P.A. Fasching (Peter); O. Fletcher (Olivia); H. Flyger (Henrik); F. Fostira (Florentia); V. Gaborieau (Valerie); M. García-Closas (Montserrat); G.G. Giles (Graham G.); M. Grip (Mervi); P. Guénel (Pascal); C.A. Haiman (Christopher A.); U. Hamann (Ute); J.M. Hartman (Joost); A. Hollestelle (Antoinette); J.L. Hopper (John L.); C.-N. Hsiung (Chia-Ni); H. Ito (Hidemi); A. Jakubowska (Anna); N. Johnson (Nichola); M. Kabisch (Maria); D. Kang (Daehee); S. Khan (Sofia); J.A. Knight (Julia); V-M. Kosma (Veli-Matti); D. Lambrechts (Diether); L. Le Marchand (Loic); J. Li (Jingmei); A. Lindblom (Annika); A. Lophatananon (Artitaya); J. Lubinski (Jan); A. Mannermaa (Arto); S. Manoukian (Siranoush); S. Margolin (Sara); F. Marme (Federick); K. Matsuo (Keitaro); C.A. McLean (Catriona Ann); A. Meindl (Alfons); K. Muir (Kenneth); S.L. Neuhausen (Susan); H. Nevanlinna (Heli); S. Nord (Silje); J.E. Olson (Janet); N. Orr (Nick); P. Peterlongo (Paolo); T.C. Putti (Thomas Choudary); A. Rudolph (Anja); S. Sangrajrang (Suleeporn); E.J. Sawyer (Elinor); M.K. Schmidt (Marjanka); R.K. Schmutzler (Rita); C-Y. Shen (Chen-Yang); J. Shi (Jiajun); M. Shrubsole (Martha); M.C. Southey (Melissa); A.J. Swerdlow (Anthony ); S.H. Teo (Soo Hwang); B. Thienpont (Bernard); A.E. Toland (Amanda); R.A.E.M. Tollenaar (Rob); I. Tomlinson (Ian); T. Truong (Thérèse); C.-C. Tseng (Chiu-chen); A.M.W. van den Ouweland (Ans); W. Wen (Wanqing); R. Winqvist (Robert); A. Wu (Anna); C.H. Yip (Cheng Har); M.P. Zamora (Pilar); Y. Zheng (Ying); P. Hall (Per); P.D.P. Pharoah (Paul); J. Simard (Jacques); G. Chenevix-Trench (Georgia); A.M. Dunning (Alison); D.F. Easton (Douglas F.); W. Zheng (Wei); R. Eeles (Rosalind); A.A. Al Olama (Ali Amin); Z. Kote-Jarai; S. Benlloch (Sara); A.C. Antoniou (Antonis C.); L. McGuffog (Lesley); K. Offit (Kenneth); A. Lee (Andrew); E. Dicks (Ed); C. Luccarini (Craig); D.C. Tessier (Daniel C.); F. Bacot (Francois); D. Vincent (Daniel); S. La Boissière (Sylvie); F. Robidoux (Frederic); S.F. Nielsen (Sune); J.M. Cunningham (Julie); S.A. Windebank (Sharon A.); C.A. Hilker (Christopher A.); J. Meyer (Jeffrey); M. Angelakos (Maggie); J. Maskiell (Judi); E.J. Rutgers (Emiel J.); S. Verhoef; F.B.L. Hogervorst (Frans); P. Boonyawongviroj (Prat); P. Siriwanarungsan (Pornthep); A. Schrauder (André); M. Rübner (Matthias); S. Oeser (Sonja); S. Landrith (Silke); E. Williams (Eileen); E. Ryder-Mills (Elaine); K. Sargus (Kara); N. McInerney (Niall); G. Colleran (Gabrielle); A. Rowan (Andrew); A. Jones (Angela); C. Sohn (Christof); A. Schneeweiß (Andeas); P. Bugert (Peter); N. Álvarez (Nuria); L. Bernstein (Leslie); J. Lacey (James); S. Wang (Sophia); H. Ma (Huiyan); Y. Lu (Yani); J. Clague De Hart (Jessica); D. Deapen (Dennis); R. Pinder (Rich); E. Lee (Eunjung); F.R. Schumacher (Fredrick); P. Horn-Ross (Pam); P. Reynolds (Peggy); D. Nelson (David); H. Park (Hannah); H. Ziegler (Hartwig); S. Wolf (Sonja); V. Hermann (Volker); W.-Y. Lo (Wing-Yee); C. Justenhoven (Christina); Y.-D. Ko (Yon-Dschun); C. Baisch (Christian); H.-P. Fischer (Hans-Peter); B. Pesch (Beate); S. Rabstein (Sylvia); A. Lotz (Anne); V. Harth (Volker); T. Heikkinen (Tuomas); I. Erkkilä (Irja); K. Aaltonen (Kirsimari); K. von Smitten (Karl); N.N. Antonenkova (Natalia); P. Hillemanns (Peter); H. Christiansen (Hans); E. Myöhänen (Eija); H. Kemiläinen (Helena); H. Thorne (Heather); E. Niedermayr (Eveline); D. Bowtell; G. Chenevix-Trench (Georgia); A. De Fazio (Anna); D. Gertig; A. Green; P. Webb (Penny); A. Green; P. Parsons; N. Hayward; P.M. Webb (P.); D. Whiteman; A. Fung (Annie); J. Yashiki (June); G. Peuteman (Gilian); D. Smeets (Dominiek); T. Van Brussel (Thomas); K. Corthouts (Kathleen); N. Obi (Nadia); J. Heinz (Judith); T.W. Behrens (Timothy); U. Eilber (Ursula); M. Celik (Muhabbet); T. Olchers (Til); B. Peissel (Bernard); G. Scuvera (Giulietta); D. Zaffaroni (Daniela); B. Bonnani (Bernardo); I. Feroce (Irene); A. Maniscalco (Angela); A. Rossi (Alessandra); L. Bernard (Loris); M. Tranchant (Martine); M.-F. Valois (Marie-France); A. Turgeon (Annie); L. Heguy (Lea); P.S. Yee (Phuah Sze); P. Kang (Peter); K.I. Nee (Kang In); S. Mariapun (Shivaani); Y. Sook-Yee (Yoon); D.S.C. Lee (Daphne S.C.); T.Y. Ching (Teh Yew); N.A.M. Taib (Nur Aishah Mohd); M. Otsukka (Meeri); K. Mononen (Kari); T. Selander (Teresa); N. Weerasooriya (Nayana); E.M.M. Krol-Warmerdam (Elly); J. Molenaar; J. Blom; N. Szeszenia-Dabrowska (Neonilia); B. Peplonska (Beata); W. Zatonski (Witold); P. Chao (Pei); M. Stagner (Michael); P. Bos (Petra); J. Blom (Jannet); E. Crepin (Ellen); A. Nieuwlaat (Anja); A. Heemskerk (Annette); S. Higham (Sue); H.E. Cramp (Helen); D. Connley (Daniel); S. Balasubramanian (Sabapathy); I.W. Brock (Ian); M. Kerin (Michael); N. Miller (Nicola); P. Kerbrat (Pierre); P. Arveux (Patrick); R. Le Scodan (Romuald); Y. Raoul (Yves); P. Laurent-Puig (Pierre); C. Mulot (Claire); C. Stegmaier (Christa); K. Butterbach (Katja); J.H. Karstens (Johann); D. Flesch-Janys (Dieter); P. Seibold (Petra); A. Vrieling (Alina); S. Nickels (Stefan); P. Radice (Paolo); K. Pykäs (Katri); A. Jukkola-Vuorinen (Arja); S. Kauppila (Saila); D. Conroy (Don); C. Baynes (Caroline); K. Chua (Kimberley); R. Pilarski (Robert)

    2015-01-01

    textabstractBackground: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. Methods: We conducted a fine-mapping analysis in 55,540

  17. Tunable continuous wave and passively Q-switched Nd:LuLiF4 laser with monolayer graphene as saturable absorber

    International Nuclear Information System (INIS)

    Wang, Feng; Luo, Jianjun; Li, Shixia; Li, Tao; Li, Ming

    2015-01-01

    Tunable continuous wave and passively Q-switched Nd:LuLiF 4 laser performances were demonstrated. Employing a 2 mm thick quartz plate as the birefringence filter, three continuous tuning ranges from 1045.2 to 1049.9 nm, 1051 to 1055.1 nm and 1072.1 to 1074.3 nm could be obtained. Q-switched laser operation was realized by using a monolayer graphene as a saturable absorber. At an incident pump power of 5.94 W, the maximum average output power was 669 mW with the pulse duration of 210 ns and the pulse repetition rate of 145 kHz at T = 10%. (paper)

  18. Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease

    Science.gov (United States)

    de la Mata, Mario; Cotán, David; Oropesa-Ávila, Manuel; Garrido-Maraver, Juan; Cordero, Mario D.; Villanueva Paz, Marina; Delgado Pavón, Ana; Alcocer-Gómez, Elizabet; de Lavera, Isabel; Ybot-González, Patricia; Paula Zaderenko, Ana; Ortiz Mellet, Carmen; Fernández, José M. García; Sánchez-Alcázar, José A.

    2015-01-01

    Gaucher disease (GD) is caused by mutations in the GBA1 gene, which encodes lysosomal β-glucocerebrosidase. Homozygosity for the L444P mutation in GBA1 is associated with high risk of neurological manifestations which are not improved by enzyme replacement therapy. Alternatively, pharmacological chaperones (PCs) capable of restoring the correct folding and trafficking of the mutant enzyme represent promising alternative therapies.Here, we report on how the L444P mutation affects mitochondrial function in primary fibroblast derived from GD patients. Mitochondrial dysfunction was associated with reduced mitochondrial membrane potential, increased reactive oxygen species (ROS), mitophagy activation and impaired autophagic flux.Both abnormalities, mitochondrial dysfunction and deficient β-glucocerebrosidase activity, were partially restored by supplementation with coenzyme Q10 (CoQ) or a L-idonojirimycin derivative, N-[N’-(4-adamantan-1-ylcarboxamidobutyl)thiocarbamoyl]-1,6-anhydro-L-idonojirimycin (NAdBT-AIJ), and more markedly by the combination of both treatments. These data suggest that targeting both mitochondria function by CoQ and protein misfolding by PCs can be promising therapies in neurological forms of GD. PMID:26045184

  19. Q-phonons, Q-invariants, and company

    International Nuclear Information System (INIS)

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

    2002-01-01

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

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

    Science.gov (United States)

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

    2017-09-01

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

  1. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

    Directory of Open Access Journals (Sweden)

    Friedrich Christopher A

    2008-04-01

    Full Text Available Abstract Background Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported. Results In this study we describe 14 individuals with microdeletions of 3q29, including one family with a mildly affected mother and two affected children, identified among 14,698 individuals with idiopathic mental retardation who were analyzed by array CGH. Eleven individuals had typical 1.6-Mb deletions. Three individuals had deletions that flank, span, or partially overlap the commonly deleted region. Although the clinical presentations of individuals with typical-sized deletions varied, several features were present in multiple individuals, including mental retardation and microcephaly. We also identified 19 individuals with duplications of 3q29, five of which appear to be the reciprocal duplication product of the 3q29 microdeletion and 14 of which flank, span, or partially overlap the common deletion region. The clinical features of individuals with microduplications of 3q29 also varied with few common features. De novo and inherited abnormalities were found in both the microdeletion and microduplication cohorts illustrating the need for parental samples to fully characterize these abnormalities. Conclusion Our report demonstrates that array CGH is especially suited to identify chromosome abnormalities with unclear or variable presentations.

  2. Dual-wavelength mid-infrared CW and Q-switched laser in diode end-pumped Tm,Ho:GdYTaO4 crystal

    Science.gov (United States)

    Wang, Beibei; Gao, Congcong; Dou, Renqin; Nie, Hongkun; Sun, Guihua; Liu, Wenpeng; Yu, Haijuan; Wang, Guoju; Zhang, Qingli; Lin, Xuechun; He, Jingliang; Wang, Wenjun; Zhang, Bingyuan

    2018-02-01

    Dual-wavelength continuous-wave and Q-switched lasers are demonstrated in a Tm,Ho:GdYTaO4 crystal under 790 nm laser diode end pumping for the first time to the best of our knowledge. The laser operates with a dual wavelength at 1949.677 nm and 2070 nm for continuous-wave with a spacing of about 120 nm. The maximum output power is 0.332 W with a pump power of 3 W. By using graphene as the saturable absorber, a passively Q-switched operation is performed with a dual-wavelength at 1950.323 nm and 2068.064 nm with a wavelength interval of about 118 nm. The maximum average output power of the Q-switched laser goes up to 200 mW with a minimum pulse duration of 1.2 µs and a maximum repetition rate of 34.72 kHz.

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

    Directory of Open Access Journals (Sweden)

    Hamid Ahmed B

    2010-08-01

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

  4. q-Poincaré supersymmetry in AdS5/CFT4

    Science.gov (United States)

    Borsato, Riccardo; Torrielli, Alessandro

    2018-03-01

    We consider the exact S-matrix governing the planar spectral problem for strings on AdS5 ×S5 and N = 4 super Yang-Mills, and we show that it is invariant under a novel "boost" symmetry, which acts as a differentiation with respect to the particle momentum. This generator leads us also to reinterpret the usual centrally extended psu (2 | 2) symmetry, and to conclude that the S-matrix is invariant under a q-Poincaré supersymmetry algebra, where the deformation parameter is related to the 't Hooft coupling. We determine the two-particle action (coproduct) that turns out to be non-local, and study the property of the new symmetry under crossing transformations. We look at both the strong-coupling (large tension in the string theory) and weak-coupling (spin-chain description of the gauge theory) limits; in the former regime we calculate the cobracket utilising the universal classical r-matrix of Beisert and Spill. In the eventuality that the boost has higher partners, we also construct a quantum affine version of 2D Poincaré symmetry, by contraction of the quantum affine algebra Uq (sl2 ˆ) in Drinfeld's second realisation.

  5. q-Poincaré supersymmetry in AdS5/CFT4

    Directory of Open Access Journals (Sweden)

    Riccardo Borsato

    2018-03-01

    Full Text Available We consider the exact S-matrix governing the planar spectral problem for strings on AdS5×S5 and N=4 super Yang–Mills, and we show that it is invariant under a novel “boost” symmetry, which acts as a differentiation with respect to the particle momentum. This generator leads us also to reinterpret the usual centrally extended psu(2|2 symmetry, and to conclude that the S-matrix is invariant under a q-Poincaré supersymmetry algebra, where the deformation parameter is related to the 't Hooft coupling. We determine the two-particle action (coproduct that turns out to be non-local, and study the property of the new symmetry under crossing transformations. We look at both the strong-coupling (large tension in the string theory and weak-coupling (spin-chain description of the gauge theory limits; in the former regime we calculate the cobracket utilising the universal classical r-matrix of Beisert and Spill. In the eventuality that the boost has higher partners, we also construct a quantum affine version of 2D Poincaré symmetry, by contraction of the quantum affine algebra Uq(sl2ˆ in Drinfeld's second realisation.

  6. Partial autocorrelation functions of the fractional ARIMA processes with negative degree of differencing

    OpenAIRE

    Inoue, Akihiko; Kasahara, Yukio

    2004-01-01

    Let {Xn : ∈Z} be a fractional ARIMA(p,d,q) process with partial autocorrelation function α(·). In this paper, we prove that if d∈(−1/2,0) then |α(n)|~|d|/n as n→∞. This extends the previous result for the case 0

  7. q-deformed Poincare algebra

    International Nuclear Information System (INIS)

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

    1992-01-01

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

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

    International Nuclear Information System (INIS)

    Dai Qirun; Li Jimei; Ma Zhanqing; Zhao Shusong

    1996-01-01

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

  9. C anti c q anti q states

    Energy Technology Data Exchange (ETDEWEB)

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

    1980-07-01

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

  10. A highly efficient graphene oxide absorber for Q-switched Nd:GdVO4 lasers

    International Nuclear Information System (INIS)

    Wang Yonggang; Wen Xiaoming; Tang Jau; Chen, Hou Ren; Hsieh, Wen Feng

    2011-01-01

    We demonstrated that graphene oxide material could be used as a highly efficient saturable absorber for the Q-switched Nd:GdVO 4 laser. A novel and low-cost graphene oxide (GO) absorber was fabricated by a vertical evaporation technique and high viscosity of polyvinyl alcohol (PVA) aqueous solution. A piece of GO/PVA absorber, a piece of round quartz, and an output coupler mirror were combined to be a sandwich structure passive component. Using such a structure, 104 ns pulses and 1.22 W average output power were obtained with the maximum pulse energy at 2 µJ and a slope efficiency of 17%.

  11. Tsallis’ quantum q-fields

    Science.gov (United States)

    Plastino, A.; Rocca, M. C.

    2018-05-01

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

  12. PTPN13, a Fas-associated protein tyrosine phosphatase, is located on the long arm of chromosome 4 at band q21.3

    Energy Technology Data Exchange (ETDEWEB)

    Inazawa, Johji; Ariyama, Takeshi; Abe, Tatsuo [Kyoto Prefectural Univ. of Medicine (Japan)] [and others

    1996-01-15

    PTPN13 is a protein tyrosine phosphatase that associates with the C-terminal negative regulatory domain in the Fas (APO-1/CD95) receptor. The PTPN13 protein contains six GLGF repeats that have been found in the rat postsynaptic density protein (PSD-95) and the Drosophila tumor suppressor protein, lethal-(1)-disclarge-1 (dlg-1). The localization of the PTPN13 gene to human chromosome 4q21.3 was determined by both FISH and PCR analysis of somatic cell hybrids. This 4q21.3 chromosomal region contains a gene for autosomal dominant polycystic kidney disease as well as the region frequently deleted in liver and ovarian cancers, suggesting that PTPN13 is a candidate for one of the putative tumor suppressor genes on the long arm of chromosome 4. 21 refs., 1 fig.

  13. Passive Q switching of a solar-pumped Nd:YAG laser.

    Science.gov (United States)

    Lando, M; Shimony, Y; Noter, Y; Benmair, R M; Yogev, A

    2000-04-20

    Passive Q switching is a preferable choice for switching the Q factor of a solar-pumped laser because it requires neither a driver nor an electrical power supply. The superior thermal characteristics and durability of Cr(4+):YAG single crystals as passive Q switches for lamp and diode-pumped high-power lasers has been demonstrated. Here we report on an average power of 37 W and a switching efficiency of 80% obtained by use of a solar-pumped Nd:YAG laser Q switched by a Cr(4+):YAG saturable absorber. Concentration of the pumping solar energy on the laser crystal was obtained with a three-stage concentrator, composed of 12 heliostats, a three-dimensional compound parabolic concentrator (CPC) and a two-dimensional CPC. The water-cooled passive Q switch also served as the laser rear mirror. Repetition rates of as much as 50 kHz, at pulse durations between 190 and 310 ns (FWHM) were achieved. From the experimental results, the saturated single-pass power absorption of the Cr(4+):YAG device was estimated as 3 ? 1%.

  14. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.

    Science.gov (United States)

    Beaujard, M-P; Jouannic, J-M; Bessières, B; Borie, C; Martin-Luis, I; Fallet-Bianco, C; Portnoï, M-F

    2005-06-01

    To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature. An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities consisting of severe intrauterine growth retardation, microcephaly, a cleft lip and renal hypoplasia. Cytogenetic analysis and FISH studies of the cultured amniocytes revealed a de novo terminal inversion duplication of the short arm of chromosome 4 characterized by a duplication of 4p14-p16.1 chromosome region concomitant with a terminal deletion 4p16.1-pter. The karyotype was thus: 46,XX, inv dup del (4)(:p14-->p16.1::p16.1-->qter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and abnormalities consistent with a Wolf-Hirschhorn syndrome (WHS) diagnosis, clinical manifestations of partial 4p trisomy being mild. Although relatively rare, inverted duplications have been reported repeatedly in an increasing number of chromosomes. Only two previous cases with de novo inv dup del (4p) and one with tandem dup 4p have been reported, all of them associated with a 4pter deletion. We report the first case diagnosed prenatally. Breakpoints are variable, resulting in different abnormal phenotype. In our case, clinical manifestations resulted in a WHS phenotype.

  15. ANTXR2 is a potential causative gene in the genome-wide association study of the blood pressure locus 4q21.

    Science.gov (United States)

    Park, So Yon; Lee, Hyeon-Ju; Ji, Su-Min; Kim, Marina E; Jigden, Baigalmaa; Lim, Ji Eun; Oh, Bermseok

    2014-09-01

    Hypertension is the most prevalent cardiovascular disease worldwide, but its genetic basis is poorly understood. Recently, genome-wide association studies identified 33 genetic loci that are associated with blood pressure. However, it has been difficult to determine whether these loci are causative owing to the lack of functional analyses. Of these 33 genome-wide association studies (GWAS) loci, the 4q21 locus, known as the fibroblast growth factor 5 (FGF5) locus, has been linked to blood pressure in Asians and Europeans. Using a mouse model, we aimed to identify a causative gene in the 4q21 locus, in which four genes (anthrax toxin receptor 2 (ANTXR2), PR domain-containing 8 (PRDM8), FGF5 and chromosome 4 open reading frame 22 (C4orf22)) were near the lead single-nucleotide polymorphism (rs16998073). Initially, we examined Fgf5 gene by measuring blood pressure in Fgf5-knockout mice. However, blood pressure did not differ between Fgf5 knockout and wild-type mice. Therefore, the other candidate genes were studied by in vivo small interfering RNA (siRNA) silencing in mice. Antxr2 siRNA was pretreated with polyethylenimine and injected into mouse tail veins, causing a significant decrease in Antxr2 mRNA by 22% in the heart. Moreover, blood pressure measured under anesthesia in Antxr2 siRNA-injected mice rose significantly compared with that of the controls. These results suggest that ANTXR2 is a causative gene in the human 4q21 GWAS-blood pressure locus. Additional functional studies of ANTXR2 in blood pressure may identify a novel genetic pathway, thus increasing our understanding of the etiology of essential hypertension.

  16. Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18.

    Science.gov (United States)

    Guon, Jennifer; Wilfond, Benjamin S; Farlow, Barbara; Brazg, Tracy; Janvier, Annie

    2014-02-01

    Trisomy 13 and trisomy 18 (T13-18) are associated with high rates of perinatal death and with severe disability among survivors. Prenatal diagnosis (PND) may lead many women to terminate their pregnancy but some women choose to continue their pregnancy. We sent 503 invitations to answer a questionnaire to parents who belong to T13 and 18 internet support groups. Using mixed methods, we asked parents about their prenatal experience, their hopes, the life of their affected child, and their family experience. 332 parents answered questions about 272 children; 128 experienced PND. These parents, despite feeling pressure to terminate (61%) and being told that their baby would likely die before birth (94%), chose to continue the pregnancy. Their reasons included: moral beliefs (68%), child-centered reasons (64%), religious beliefs (48%), parent-centered reasons (28%), and practical reasons (6%). At the time of the diagnosis, most of these parents (80%) hoped to meet their child alive. By the time of birth, 25% chose a plan of full interventions. A choice of interventions at birth was associated with fewer major anomalies (P Parents describe "Special" healthcare providers as those who gave balanced and personalized information, respected their choice, and provided support. Parents make decisions to continue a pregnancy and choose a plan of care for their child according to their beliefs and their child's specific medical condition, respectively. Insights from parents' perspective can better enable healthcare providers to counsel and support families. © 2013 Wiley Periodicals, Inc.

  17. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2017-01-15

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

  19. Computational model of dual q-switching and lasing processes of the pulsed Cr4+:YAG laser pumped by Nd-glass laser

    International Nuclear Information System (INIS)

    Abdul Ghani, B.; Hammadi, M.

    2007-01-01

    A mathematical model describing the absorption and oscillation processes of intracavity Cr 4+ : YAG crystal pumped by Nd-glass laser has been developed, in order to describe the temporal behavior of laser-absorber system. The model has been assumed that the Cr 4+ ions excited to a higher level by excited state absorption, followed by relaxation directly to the upper laser level through fast channel, and indirectly through slow proposed intermediate channel at different lifetimes. The model offers simple kinetic mechanisms for pulsed solid state lasers and also the influence of the variations of the laser input parameters (pumping rate, maximum amplification coefficient and loss coefficient) on the output pulse characteristics of the passive Q-switched Nd-glass and pulsed Cr 4+ : YAG lasers. The model estimates the temporal behavior of the population densities of different levels and laser beam densities as well as predicts the nanosecond output laser pulses of passive Q-switched Nd-glass laser and pulsed Cr 4+ : YAG laser. The calculated results are in good agreement with the available experimental and theoretical data in the literature. (author)

  20. Q QIAO

    Indian Academy of Sciences (India)

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

  1. Symmetric q-Bessel functions

    Directory of Open Access Journals (Sweden)

    Giuseppe Dattoli

    1996-05-01

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

  2. Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected.

    Science.gov (United States)

    Najfeld, Vesna; Montella, Lya; Scalise, Angela; Fruchtman, Steven

    2002-11-01

    Between 1986 and 2001, 220 patients with polycythaemia vera (PV) were studied using conventional cytogenetics. Of 204 evaluable patients, 52 (25.4%) had clonal abnormalities. The recurrent chromosomal rearrangements were those of chromosome 9 (21.1%), del(20q) (19.2%), trisomy 8 (19.2%), rearrangements of 13q (13.4%), abnormalities of 1q (11.5%), and of chromosomes 5 and 7 (9.6%). Subsequent analysis of 32 patients, performed at follow-up of up to 14.8 years, revealed new clonal abnormalities in five patients and the disappearance of an abnormal clone in four. Eleven patients remained normal up to 11.5 years and seven patients maintained an abnormality for over 10 years. Fifty-three patients were studied retrospectively using interphase fluorescence in situ hybridization (I-FISH), utilizing probes for centromere enumeration of chromosomes 8 and 9, and for 13q14 and 20q12 loci. Conventional cytogenetics demonstrated clonal chromosome abnormalities in 23% of these 53 patients. The addition of I-FISH increased the detection of abnormalities to 29% and permitted clarification of chromosome 9 rearrangements in an additional 5.6% of patients. FISH uncovered rearrangements of chromosome 9 in 53% of patients with an abnormal FISH pattern, which represented the most frequent genomic alteration in this series.

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

    OpenAIRE

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

    2017-01-01

    Coenzyme Q10 (CoQ10) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired function of CoQ10–dependent complexes I, II and III. The recessively transmitted CoQ10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infa...

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

    International Nuclear Information System (INIS)

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

    2000-01-01

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

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

    Science.gov (United States)

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

    2017-09-01

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

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

    International Nuclear Information System (INIS)

    Twarock, Reidun

    1998-01-01

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

  7. Evaluation of articulation of Turkish phonemes after removable partial denture application

    Directory of Open Access Journals (Sweden)

    Özbeki Murat

    2003-01-01

    Full Text Available In this study, the adaptation of patients to removable partial dentures was evaluated related to articulation of Turkish phonemes. Articulation of /t,d,n,l,r/, /g,k/, /b,p,m/ and /s,z,Õ,v,f,y,j,h,c/ phonemes were evaluated by three speech pathologists, on records taken from 15 patients before the insertion of a removable partial denture, just after insertion, and one week later. The test consisted of evaluation of phoneme articulation of independent syllables in terms of distortion, omission, substitution, mass effect, hypernasality and hyponasality. Data were evaluated with Cochrane Q, McNemar and Kruskal-Wallis tests. The results showed that for some phonemes, problems in articulation occurred after the insertion of a removable partial denture while for others a significant amelioration was observed after the insertion of a removable partial denture. In general, problems in articulation of evaluated phonemes were resolved after one week of use.

  8. Exploiting genotypic diversity of 2,4-diacetylphloroglucinol-producing Pseudomonas spp.: characterization of superior root-colonizing P. fluorescens strain Q8r1-96.

    Science.gov (United States)

    Raaijmakers, J M; Weller, D M

    2001-06-01

    The genotypic diversity that occurs in natural populations of antagonistic microorganisms provides an enormous resource for improving biological control of plant diseases. In this study, we determined the diversity of indigenous 2,4-diacetylphloroglucinol (DAPG)-producing Pseudomonas spp. occurring on roots of wheat grown in a soil naturally suppressive to take-all disease of wheat. Among 101 isolates, 16 different groups were identified by random amplified polymorphic DNA (RAPD) analysis. One RAPD group made up 50% of the total population of DAPG-producing Pseudomonas spp. Both short- and long-term studies indicated that this dominant genotype, exemplified by P. fluorescens Q8r1-96, is highly adapted to the wheat rhizosphere. Q8r1-96 requires a much lower dose (only 10 to 100 CFU seed(-1) or soil(-1)) to establish high rhizosphere population densities (10(7) CFU g of root(-1)) than Q2-87 and 1M1-96, two genotypically different, DAPG-producing P. fluorescens strains. Q8r1-96 maintained a rhizosphere population density of approximately 10(5) CFU g of root(-1) after eight successive growth cycles of wheat in three different, raw virgin soils, whereas populations of Q2-87 and 1M1-96 dropped relatively quickly after five cycles and were not detectable after seven cycles. In short-term studies, strains Q8r1-96, Q2-87, and 1M1-96 did not differ in their ability to suppress take-all. After eight successive growth cycles, however, Q8r1-96 still provided control of take-all to the same level as obtained in the take-all suppressive soil, whereas Q2-87 and 1M1-96 gave no control anymore. Biochemical analyses indicated that the superior rhizosphere competence of Q8r1-96 is not related to in situ DAPG production levels. We postulate that certain rhizobacterial genotypes have evolved a preference for colonization of specific crops. By exploiting diversity of antagonistic rhizobacteria that share a common trait, biological control can be improved significantly.

  9. Functional Consequences of 17q21.31/WNT3-WNT9B Amplification in hPSCs with Respect to Neural Differentiation

    Directory of Open Access Journals (Sweden)

    Chun-Ting Lee

    2015-02-01

    Full Text Available Human pluripotent stem cell (hPSC lines exhibit repeated patterns of genetic variation, which can alter in vitro properties as well as suitability for clinical use. We examined associations between copy-number variations (CNVs on chromosome 17 and hPSC mesodiencephalic dopaminergic (mDA differentiation. Among 24 hPSC lines, two karyotypically normal lines, BG03 and CT3, and BG01V2, with trisomy 17, exhibited amplification of the WNT3/WNT9B region and rapid mDA differentiation. In hPSC lines with amplified WNT3/WNT9B, basic fibroblast growth factor (bFGF signaling through mitogen-activated protein kinase (MAPK/ERK amplifies canonical WNT signaling by phosphorylating LRP6, resulting in enhanced undifferentiated proliferation. When bFGF is absent, noncanonical WNT signaling becomes dominant due to upregulation of SIAH2, enhancing JNK signaling and promoting loss of pluripotency. When bFGF is present during mDA differentiation, stabilization of canonical WNT signaling causes upregulation of LMX1A and mDA induction. Therefore, CNVs in 17q21.31, a “hot spot” for genetic variation, have multiple and complex effects on hPSC cellular phenotype.

  10. Twisted finite-volume corrections to K{sub l3} decays with partially-quenched and rooted-staggered quarks

    Energy Technology Data Exchange (ETDEWEB)

    Bernard, Claude [Department of Physics, Washington University,One Brookings Drive, Saint Louis (United States); Bijnens, Johan [Department of Astronomy and Theoretical Physics, Lund University,Sölvegatan 14A, SE 223-62 Lund (Sweden); Gámiz, Elvira [CAFPE and Departamento de Física Teórica y del Cosmos, Universidad de Granada,Campus de Fuente Nueva, E-18002 Granada (Spain); Relefors, Johan [Department of Astronomy and Theoretical Physics, Lund University,Sölvegatan 14A, SE 223-62 Lund (Sweden)

    2017-03-23

    The determination of |V{sub us}| from kaon semileptonic decays requires the value of the form factor f{sub +}(q{sup 2}=0) which can be calculated precisely on the lattice. We provide the one-loop partially quenched chiral perturbation theory expressions both with and without including the effects of staggered quarks for all form factors at finite volume and with partially twisted boundary conditions for both the vector current and scalar density matrix elements at all q{sup 2}. We point out that at finite volume there are more form factors than just f{sub +} and f{sub −} for the vector current matrix element but that the Ward identity is fully satisfied. The size of the finite-volume corrections at present lattice sizes is small. This will help improve the lattice determination of f{sub +}(q{sup 2}=0) since the finite-volume error is the dominant error source for some calculations. The size of the finite-volume corrections may be estimated on a single lattice ensemble by comparing results for various twist choices.

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

    Science.gov (United States)

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

    2014-01-15

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

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

    Directory of Open Access Journals (Sweden)

    Shin Min Kang

    2016-06-01

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

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

    Science.gov (United States)

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

    2018-01-01

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

  14. Pilot study of safety and efficacy of polyprenols in combination with coenzyme Q10 in patients with statin-induced myopathy.

    Science.gov (United States)

    Latkovskis, Gustavs; Saripo, Vita; Sokolova, Emma; Upite, Dana; Vanaga, Ilona; Kletnieks, Ugis; Erglis, Andrejs

    2016-01-01

    Statin-induced myopathy (SIM) has been partially attributed to deficiency of dolichol and coenzyme Q10 (CoQ10). We aimed to test the safety and efficacy of plant polyprenols in combination with CoQ10 for alleviation of SIM. In an open-label, one-center prospective pilot study patients with SIM received conifer-tree needle polyprenols (4mg/day) and CoQ10 (100mg/day) for 8 weeks. Symptoms and safety were evaluated according to symptom severity score (0-10), creatine kinase (CK) levels, exercise test, dynamometry, complete blood count, clinical biochemistry and electrocardiography. Of the 14 patients, 11 completed the study per protocol. Two patients withdrew consent due to travels abroad, and it was discontinued for one patient with stage 3 chronic kidney disease due to asymptomatic elevations of liver enzymes at week 4. No safety parameters changed significantly in per protocol group. Non-significant increase of CK levels was observed (P=0.231). Muscle pain (n=10) and weakness (n=7) scores improved significantly (PMuscle pain completely disappeared in 2 patients, weakness resolved in 3 patients and cramps disappeared in two patients. Four patients assessed improvement strong enough to consider increase of statin dose. No changes were observed in exercise test or dynamometry. Conifer-tree polyprenols in combination with CoQ10 may be generally safe in patients with SIM, but caution should be exercised in patients with glomerular filtration rate <60mL/min and routine monitoring of the liver enzymes and CK is advocated in all patients. The observed efficacy provides the rationale for a larger, double-blind controlled study with polyprenols. Copyright © 2016 The Lithuanian University of Health Sciences. Production and hosting by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  15. 183-W, M2 = 2.4 Yb:YAG Q -switched laser

    International Nuclear Information System (INIS)

    Honea, E.C.; Beach, R.J.; Mitchell, S.C.; Avizonis, P.V.

    1999-01-01

    We have fabricated a diode-array end-pumped Yb:YAG rod laser with output powers greater than 200thinspthinspW cw and 195thinspthinspW Q -switched at 5thinspthinspkHz. At an output power of 183thinspthinspW and a repetition rate of 5thinspthinspkHz, the beam quality was measured to be M 2 =2.4 . The laser design incorporates a hollow lens duct to concentrate the diode pump light for delivery to the end of the laser rod while maintaining access to the laser beam. This configuration provides increased flexibility for the resonator design and permits the use of birefringence compensation in the cavity to yield polarized output with increased efficiency. Using the recently described birefringence compensation method of Clarkson et al.thinspthinsp[in Conference on Lasers and Electro-Optics (Optical Society of America, Washington, D.C., 1998), paper CTuI3], we obtained 112thinspthinspW of cw power with a polarized beam of M 2 =3.2 . copyright 1999 Optical Society of America

  16. Two sequence-ready contigs spanning the two copies of a 200-kb duplication on human 21q: partial sequence and polymorphisms.

    Science.gov (United States)

    Potier, M; Dutriaux, A; Orti, R; Groet, J; Gibelin, N; Karadima, G; Lutfalla, G; Lynn, A; Van Broeckhoven, C; Chakravarti, A; Petersen, M; Nizetic, D; Delabar, J; Rossier, J

    1998-08-01

    Physical mapping across a duplication can be a tour de force if the region is larger than the size of a bacterial clone. This was the case of the 170- to 275-kb duplication present on the long arm of chromosome 21 in normal human at 21q11.1 (proximal region) and at 21q22.1 (distal region), which we described previously. We have constructed sequence-ready contigs of the two copies of the duplication of which all the clones are genuine representatives of one copy or the other. This required the identification of four duplicon polymorphisms that are copy-specific and nonallelic variations in the sequence of the STSs. Thirteen STSs were mapped inside the duplicated region and 5 outside but close to the boundaries. Among these STSs 10 were end clones from YACs, PACs, or cosmids, and the average interval between two markers in the duplicated region was 16 kb. Eight PACs and cosmids showing minimal overlaps were selected in both copies of the duplication. Comparative sequence analysis along the duplication showed three single-basepair changes between the two copies over 659 bp sequenced (4 STSs), suggesting that the duplication is recent (less than 4 mya). Two CpG islands were located in the duplication, but no genes were identified after a 36-kb cosmid from the proximal copy of the duplication was sequenced. The homology of this chromosome 21 duplicated region with the pericentromeric regions of chromosomes 13, 2, and 18 suggests that the mechanism involved is probably similar to pericentromeric-directed mechanisms described in interchromosomal duplications. Copyright 1998 Academic Press.

  17. Immediate occlusal loading of implants in the partially edentate mandible: a prospective 1-year radiographic and 4-year clinical study.

    Science.gov (United States)

    Ostman, Pär-Olov; Hellman, Mats; Sennerby, Lars

    2008-01-01

    The purpose of the present prospective clinical study was to evaluate the radiographic and clinical outcome of immediately loaded implants in the partial edentulous mandible over a 4-year follow-up period using a modified surgical protocol, primary implant stability criteria, and splinting for inclusion. Patients in need of implant treatment in the partial edentate mandible were consecutively included in the study. The implant sites were underprepared to obtain maximal stability. Inclusion criteria for the study were torque of a least 30 Ncm before final seating of the implant and an ISQ greater than 60. A provisional fixed partial denture was delivered within 24 hours and a definitive fixed partial denture within 3 months. The patients were monitored with clinical and radiographic follow-up examinations for up to 4 years. Stability of the implants was measured with resonance frequency analysis at placement and after 6 months. Ninety-six patients were evaluated, and 77 patients who met the inclusion criteria were included. A total of 111 fixed partial dentures supported by 257 Brånemark System implants (77 turned and 180 TiUnite implants) were delivered. Four (1.6%) of the 257 implants did not osseointegrate, giving an overall survival rate of 98.4% after 4 years. Three turned (3.9%) implants and 1 oxidized implant (0.6%) failed after 4 to 13 months. The average marginal bone resorption was 0.7 mm (SD 0.78) during the first year in function. Turned implants showed an average bone loss of 0.5 mm (SD 0.8) and oxidized implants an average of 0.7 mm (SD 0.8). Resonance frequency analysis showed a mean implant stability quotient of 72.2 (SD 7.5) at placement and 72.5 (SD 5.7) after 6 months of loading. It is concluded that immediate loading of implants with firm primary stability in partially edentulous areas of the mandible appears to be a viable procedure with predictable outcome.

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

    Directory of Open Access Journals (Sweden)

    Huafeng Zhou

    2014-01-01

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

  19. Nonexistence of global solutions to the system of semilinear parabolic equations with biharmonic operator and singular potential

    Directory of Open Access Journals (Sweden)

    Shirmayil Bagirov

    2018-01-01

    Full Text Available In the domain $Q_{R}'= \\{ x:| x| >R\\}\\times( 0,+\\infty$ we consider the problem $$\\displaylines{ \\frac{\\partial u_1}{\\partial t}+\\Delta^2 u_1-\\frac{C_1}{|x| ^4}u_1 =| x| ^{\\sigma _1}| u_2| ^{q_1}, \\quad u_1| _{t=0}=u_{10}( x\\geq0, \\cr \\frac{\\partial u_2}{\\partial t}+\\Delta^2 u_2-\\frac{C_2}{| x| ^4}u_2=| x| ^{\\sigma _2}| u_1| ^{q_2},\\quad u_2| _{t=0}=u_{20}( x\\geq0, \\cr \\int_0^\\infty \\int_{\\partial B_{R}} u_i\\,ds\\,dt\\geq 0, \\quad \\int_0^\\infty \\int_{\\partial B_{R}}\\Delta u_i\\,ds\\,dt\\leq 0, }$$ where $\\sigma_i\\in \\mathbb{R} $, $ q_i>1 $, $ 0\\leq C_i<( \\frac{n( n-4 }{4} ^2$, $ i=1,2 $. Sufficient condition for the nonexistence of global solutions is obtained.The proof is based on the method of test functions.

  20. Odd and Even Partial Waves of $\\eta\\pi^-$ and $\\eta'\\pi^-$ in $\\pi^-p\\to\\eta^{(\\prime)}\\pi^-p$ at $191\\,\\textrm{GeV}/c$

    CERN Document Server

    Adolph, C.; Alexeev, M.G.; Alexeev, G.D.; Amoroso, A.; Andrieux, V.; Anosov, V.; Austregesilo, A.; Badelek, B.; Balestra, F.; Barth, J.; Baum, G.; Beck, R.; Bedfer, Y.; Berlin, A.; Bernhard, J.; Bicker, K.; Bielert, E.R.; Bieling, J.; Birsa, R.; Bisplinghoff, J.; Bodlak, M.; Boer, M.; Bordalo, P.; Bradamante, F.; Braun, C.; Bressan, A.; Buchele, M.; Burtin, E.; Capozza, L.; Chiosso, M.; Chung, S.U.; Cicuttin, A.; Crespo, M.L.; Curiel, Q.; Dalla Torre, S.; Dasgupta, S.S.; Dasgupta, S.; Denisov, O.Yu.; Donskov, S.V.; Doshita, N.; Duic, V.; Dunnweber, W.; Dziewiecki, M.; Efremov, A.; Elia, C.; Eversheim, P.D.; Eyrich, W.; Faessler, M.; Ferrero, A.; Finger, M.; M. Finger jr; Fischer, H.; Franco, C.; von Hohenesche, N. du Fresne; Friedrich, J.M.; Frolov, V.; Gautheron, F.; Gavrichtchouk, O.P.; Gerassimov, S.; Geyer, R.; Gnesi, I.; Gobbo, B.; Goertz, S.; Gorzellik, M.; Grabmuller, S.; Grasso, A.; Grube, B.; Grussenmeyer, T.; Guskov, A.; Haas, F.; von Harrach, D.; Hahne, D.; Hashimoto, R.; Heinsius, F.H.; Herrmann, F.; Hinterberger, F.; Hoppner, Ch.; Horikawa, N.; d'Hose, N.; Huber, S.; Ishimoto, S.; Ivanov, A.; Ivanshin, Yu.; Iwata, T.; Jahn, R.; Jary, V.; Jasinski, P.; Jorg, P.; Joosten, R.; Kabuss, E.; Ketzer, B.; Khaustov, G.V.; Khokhlov, Yu. A.; Kisselev, Yu.; Klein, F.; Klimaszewski, K.; Koivuniemi, J.H.; Kolosov, V.N.; Kondo, K.; Konigsmann, K.; Konorov, I.; Konstantinov, V.F.; Kotzinian, A.M.; Kouznetsov, O.; Kramer, M.; Kroumchtein, Z.V.; Kuchinski, N.; Kunne, F.; Kurek, K.; Kurjata, R.P.; Lednev, A.A.; Lehmann, A.; Levillain, M.; Levorato, S.; Lichtenstadt, J.; Maggiora, A.; Magnon, A.; Makke, N.; Mallot, G.K.; Marchand, C.; Martin, A.; Marzec, J.; Matousek, J.; Matsuda, H.; Matsuda, T.; Meshcheryakov, G.; Meyer, W.; Michigami, T.; Mikhailov, Yu. V.; Miyachi, Y.; Nagaytsev, A.; Nagel, T.; Nerling, F.; Neubert, S.; Neyret, D.; Novy, J.; Nowak, W.D.; Nunes, A.S.; Olshevsky, A.G.; Orlov, I.; Ostrick, M.; Panknin, R.; Panzieri, D.; Parsamyan, B.; Paul, S.; Peshekhonov, D.V.; Platchkov, S.; Pochodzalla, J.; Polyakov, V.A.; Pretz, J.; Quaresma, M.; Quintans, C.; Ramos, S.; Regali, C.; Reicherz, G.; Rocco, E.; Rossiyskaya, N.S.; Ryabchikov, D.I.; Rychter, A.; Samoylenko, V.D.; Sandacz, A.; Sarkar, S.; Savin, I.A.; Sbrizzai, G.; Schiavon, P.; Schill, C.; Schluter, T.; Schmidt, K.; Schmieden, H.; Schonning, K.; Schopferer, S.; Schott, M.; Shevchenko, O.Yu.; Silva, L.; Sinha, L.; Sirtl, S.; Slunecka, M.; Sosio, S.; Sozzi, F.; Srnka, A.; Steiger, L.; Stolarski, M.; Sulc, M.; Sulej, R.; Suzuki, H.; Szabelski, A.; Szameitat, T.; Sznajder, P.; Takekawa, S.; Wolbeek, J. ter; Tessaro, S.; Tessarotto, F.; Thibaud, F.; Uhl, S.; Uman, I.; Virius, M.; Wang, L.; Weisrock, T.; Wilfert, M.; Windmolders, R.; Wollny, H.; Zaremba, K.; Zavertyaev, M.; Zemlyanichkina, E.; Ziembicki, M.; Zink, A.

    2015-01-01

    Exclusive production of $\\eta\\pi^-$ and $\\eta'\\pi^-$ has been studied with a $191\\,\\textrm{GeV}/c$ $\\pi^-$ beam impinging on a hydrogen target at COMPASS (CERN). Partial-wave analyses reveal different odd/even angular momentum ($L$) characteristics in the inspected invariant mass range up to $3\\,\\textrm{GeV}/c^2$. A striking similarity between the two systems is observed for the $L=2,4,6$ intensities (scaled by kinematical factors) and the relative phases. The known resonances $a_2(1320)$ and $a_4(2040)$ are in line with this similarity. In contrast, a strong enhancement of $\\eta'\\pi^-$ over $\\eta\\pi^-$ is found for the $L=1,3,5$ waves, which carry non-$q\\bar q$ quantum numbers. The $L=1$ intensity peaks at $1.7\\,\\textrm{GeV}/c^2$ in $\\eta'\\pi^-$ and at $1.4\\,\\textrm{GeV}/c^2$ in $\\eta\\pi^-$, the corresponding phase motions with respect to $L=2$ are different.

  1. New infiniti Q45. Shingata Infiniti Q45'' ni tsuite

    Energy Technology Data Exchange (ETDEWEB)

    Oka, T; Ochiai, A; Kato, Y [Nissan Motor Co. Ltd., Tokyo (Japan)

    1989-12-25

    This report introduces the concept for development and the outline of the Infiniti Q45, a new luxury sedan Nissan has developed, and special activities Nissan makes to produce luxury cars. This sedan was developed with the concept of producing a large-sized luxury car of evidently Japanese make to earn the world appraisal; a touring saloon whose style is original and unique based on the sensitivity of Japanese and yet which has the performance of a sports car. Every part of the Infiniti Q45, from the V8 engine and the 4.5 L DOHC 32 valve engine to the hydraulic active suspension, the first to be loaded on a mass production car, features Nissan's innovative and leading-edge technology. Moreover, to provide maximum customer satisfaction in every scene from the purchase of a car to services, various constructive programs have been adopted with the key word, Total Ownership Experience. 8 figs., 2 tabs.

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

    Science.gov (United States)

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

    2013-04-01

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

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

    International Nuclear Information System (INIS)

    Zhang Haixia; Zhang Min; Zhang Zongye

    2007-01-01

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

  4. Factors related to home health-care transition in trisomy 13.

    Science.gov (United States)

    Kitase, Yuma; Hayakawa, Masahiro; Kondo, Taiki; Saito, Akiko; Tachibana, Takashi; Oshiro, Makoto; Ieda, Kuniko; Kato, Eiko; Kato, Yuichi; Hattori, Tetsuo; Hayashi, Seiji; Ito, Masatoki; Hyodo, Reina; Muramatsu, Yukako; Sato, Yoshiaki

    2017-10-01

    Trisomy 13 (T13) is accompanied by severe complications, and it can be challenging to achieve long-term survival without aggressive treatment. However, recently, some patients with T13 have been receiving home care. We conducted this study to investigate factors related to home health-care transition for patients with T13.We studied 28 patients with T13 born between January 2000 and December 2014. We retrospectively compared nine home care transition patients (the home care group) and 19 patients that died during hospitalization (the discharge at death group). The median gestational age of the patients was 36.6 weeks, with a median birth weight of 2,047 g. Currently, three patients (11%) have survived, and 25 (89%) have died. The home care group exhibited a significantly longer gestational age (38.9 vs. 36.3 weeks, p = 0.039) and significantly larger occipitofrontal circumference Z score (-0.04 vs. -0.09, p = 0.019). Congenital heart defects (CHD) was more frequent in the discharge at death group, with six patients in the home care group and 18 patients in the discharge at death group (67% vs. 95%, p = 0.047), respectively. Survival time was significantly longer in the home care group than in the discharge at death group (171 vs. 19 days, p = 0.012). This study has shown that gestational age, occipitofrontal circumference Z score at birth, and the presence of CHD are helpful prognostic factors for determining treatment strategy in patients with T13. © 2017 Wiley Periodicals, Inc.

  5. High Q ceramics in the ACe2(MoO4)4 (A = Ba, Sr and Ca) system for LTCC applications

    International Nuclear Information System (INIS)

    Surjith, A.; Ratheesh, R.

    2013-01-01

    Highlights: ► Solid state synthesis of phase pure ACe 2 (MoO 4 ) 4 (A = Ba, Sr and Ca) ceramics. ► Structural and microstructural evaluation of the synthesized ceramic materials. ► Microwave dielectric property studies of ACe 2 (MoO 4 ) 4 (A = Ba, Sr and Ca) ceramics. ► Structure-property correlation through Laser Raman studies. - Abstract: Novel low temperature sinterable high Q ceramic systems ACe 2 (MoO 4 ) 4 (A = Ba, Sr and Ca) have been prepared through solid state ceramic method. The effect of ionic radii of alkaline earth cations on the structure, microstructure and microwave dielectric properties of these ceramics were studied using powder X-ray diffraction, Laser Raman spectroscopy, scanning electron microscopy and Vector Network Analyzer. A structural change from monoclinic to tetragonal structure was observed while substituting Sr 2+ and Ca 2+ cations in place of Ba 2+ . The Sr and Ca analogues possess better microwave dielectric properties compared to BaCe 2 (MoO 4 ) 4 . All the ceramics were well sintered below 840 °C with dielectric constant in the range 10.2–12.3 together with good quality factor. The SrCe 2 (MoO 4 ) 4 ceramic exhibits an unloaded quality factor of 6762 at 8.080662 GHz with a temperature coefficient of resonant frequency of −46 ppm/°C while the CaCe 2 (MoO 4 ) 4 ceramic shows an unloaded quality factor of 7549 at 6.928868 GHz and a temperature coefficient of resonant frequency of −44 ppm/°C.

  6. Multifocus Image Fusion in Q-Shift DTCWT Domain Using Various Fusion Rules

    Directory of Open Access Journals (Sweden)

    Yingzhong Tian

    2016-01-01

    Full Text Available Multifocus image fusion is a process that integrates partially focused image sequence into a fused image which is focused everywhere, with multiple methods proposed in the past decades. The Dual Tree Complex Wavelet Transform (DTCWT is one of the most precise ones eliminating two main defects caused by the Discrete Wavelet Transform (DWT. Q-shift DTCWT was proposed afterwards to simplify the construction of filters in DTCWT, producing better fusion effects. A different image fusion strategy based on Q-shift DTCWT is presented in this work. According to the strategy, firstly, each image is decomposed into low and high frequency coefficients, which are, respectively, fused by using different rules, and then various fusion rules are innovatively combined in Q-shift DTCWT, such as the Neighborhood Variant Maximum Selectivity (NVMS and the Sum Modified Laplacian (SML. Finally, the fused coefficients could be well extracted from the source images and reconstructed to produce one fully focused image. This strategy is verified visually and quantitatively with several existing fusion methods based on a plenty of experiments and yields good results both on standard images and on microscopic images. Hence, we can draw the conclusion that the rule of NVMS is better than others after Q-shift DTCWT.

  7. q-structure algebra of Uq(g-circumflex) from its adjoint action

    International Nuclear Information System (INIS)

    El Hassouni, A.; Hassouni, Y.; Zakkari, M.

    1994-08-01

    We prove that the adjoint action of the quantum affine Lie algebra U q (g-circumflex), where g is a simple finite dimensional Lie algebra, reproduces the q-commutation relationship of U q (g-circumflex) if and only if g is of type A n , n ≥ 1. (author). 4 refs

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

    Science.gov (United States)

    Budini, Adrián A.

    2015-05-01

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

  9. Multiple roles of the extracellular vestibule amino acid residues in the function of the rat P2X4 receptor.

    Directory of Open Access Journals (Sweden)

    Milos B Rokic

    Full Text Available The binding of ATP to trimeric P2X receptors (P2XR causes an enlargement of the receptor extracellular vestibule, leading to opening of the cation-selective transmembrane pore, but specific roles of vestibule amino acid residues in receptor activation have not been evaluated systematically. In this study, alanine or cysteine scanning mutagenesis of V47-V61 and F324-N338 sequences of rat P2X4R revealed that V49, Y54, Q55, F324, and G325 mutants were poorly responsive to ATP and trafficking was only affected by the V49 mutation. The Y54F and Y54W mutations, but not the Y54L mutation, rescued receptor function, suggesting that an aromatic residue is important at this position. Furthermore, the Y54A and Y54C receptor function was partially rescued by ivermectin, a positive allosteric modulator of P2X4R, suggesting a rightward shift in the potency of ATP to activate P2X4R. The Q55T, Q55N, Q55E, and Q55K mutations resulted in non-responsive receptors and only the Q55E mutant was ivermectin-sensitive. The F324L, F324Y, and F324W mutations also rescued receptor function partially or completely, ivermectin action on channel gating was preserved in all mutants, and changes in ATP responsiveness correlated with the hydrophobicity and side chain volume of the substituent. The G325P mutant had a normal response to ATP, suggesting that G325 is a flexible hinge. A topological analysis revealed that the G325 and F324 residues disrupt a β-sheet upon ATP binding. These results indicate multiple roles of the extracellular vestibule amino acid residues in the P2X4R function: the V49 residue is important for receptor trafficking to plasma membrane, the Y54 and Q55 residues play a critical role in channel gating and the F324 and G325 residues are critical for vestibule widening.

  10. Narrow Q-switching pulse width and low mode-locking repetition rate Q-switched mode locking with a new coupled laser cavity

    International Nuclear Information System (INIS)

    Peng, J Y; Zheng, Y; Shen, J P; Shi, Y X

    2013-01-01

    An original diode-pumped Q-switched and mode-locked solid state Nd:GdVO 4 laser is demonstrated. The laser operates with double saturable absorbers and a new coupled laser cavity. The Q-switching envelope width is compressed to be about 15 ns and the mode-locking repetition rate is as low as 90 MHz. (paper)

  11. AML with t(7;12)(q36;p13) is associated with infancy and trisomy 19. Data from NOPHO-AML and review of the literature

    DEFF Research Database (Denmark)

    Espersen, Anne Dorte Lerche; Noren-Nyström, Ulrika; Abrahamsson, Jonas

    2018-01-01

    The t(7;12)(q36;p13) (MNX1/ETV6) is not included in the WHO classification but has been described in up to 30% of acute myeloid leukemia (AML) in children ...). A literature review identified 35 patients with this translocation, published between 2000 and 2015. Outcome data were available in 22 cases. The NOPHO-AML (Nordic Society for Pediatric Hematology and Oncology) database contained 651 patients with AML from 1993 to 2014 and seven (1.1%) had the translocation...

  12. Partially composite Goldstone Higgs boson

    DEFF Research Database (Denmark)

    Alanne, Tommi; Franzosi, Diogo Buarque; Frandsen, Mads T.

    2017-01-01

    We consider a model of dynamical electroweak symmetry breaking with a partially composite Goldstone Higgs boson. The model is based on a strongly interacting fermionic sector coupled to a fundamental scalar sector via Yukawa interactions. The SU(4)×SU(4) global symmetry of these two sectors...... is broken to a single SU(4) via Yukawa interactions. Electroweak symmetry breaking is dynamically induced by condensation due to the strong interactions in the new fermionic sector which further breaks the global symmetry SU(4)→Sp(4). The Higgs boson arises as a partially composite state which is an exact...... Goldstone boson in the limit where SM interactions are turned off. Terms breaking the SU(4) global symmetry explicitly generate a mass for the Goldstone Higgs boson. The model realizes in different limits both (partially) composite Higgs and (bosonic) technicolor models, thereby providing a convenient...

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

    Science.gov (United States)

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

    2001-04-01

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

  14. Hydraulic testing of Type Q septifoils including modifications

    International Nuclear Information System (INIS)

    Steimke, J.L.; Fowley, M.D.; Guerrero, H.N.

    1992-09-01

    On May 25, 1992 a leak of moderator was detected as K Reactor was approaching initial criticality. The partial length control rods were being withdrawn when the leak detectors in the Process Room alarmed. The apparent location of the moderator leak was the top of the guide tubes which are positioned over the new Type Q septifoils. The reactor was shut down immediately. In response, a testing program was begun at the Heat Transfer Laboratory (HTL). The goals of the program were to determine the cause of the septifoil leak and to test methods for preventing future leaks. These tests are described in this report

  15. Tensor products of Uq′sl-caret(2)-modules and the big q2-Jacobi function transform

    International Nuclear Information System (INIS)

    Gade, R. M.

    2013-01-01

    Four tensor products of evaluation modules of the quantum affine algebra U q ′ 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 {τ (r,t) } r,t∈Z ≥0 and {τ (r,t) } r,t∈Z ≥0 involving big q 2 -Jacobi functions or related nonterminating basic hypergeometric series. Inhomogeneous recurrence relations can be derived for both sets. Evaluations of the simplest sums provide the corresponding initial conditions. For the first set of sums the relations entail a big q 2 -Jacobi function transform pair. An integral decomposition is obtained for the sum τ (r,t) . A partial description of the relation between the decompositions of the tensor products with respect to U q sl(2) or with respect to its complement in U q ′ 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 q ′ sl-caret(2)-submodules is discussed.

  16. Novel ZEB2-BCL11B Fusion Gene Identified by RNA-Sequencing in Acute Myeloid Leukemia with t(2;14(q22;q32.

    Directory of Open Access Journals (Sweden)

    Synne Torkildsen

    Full Text Available RNA-sequencing of a case of acute myeloid leukemia with the bone marrow karyotype 46,XY,t(2;14(q22;q32[5]/47,XY,idem,+?4,del(6(q13q21[cp6]/46,XY[4] showed that the t(2;14 generated a ZEB2-BCL11B chimera in which exon 2 of ZEB2 (nucleotide 595 in the sequence with accession number NM_014795.3 was fused to exon 2 of BCL11B (nucleotide 554 in the sequence with accession number NM_022898.2. RT-PCR together with Sanger sequencing verified the presence of the above-mentioned fusion transcript. All functional domains of BCL11B are retained in the chimeric protein. Abnormal expression of BCL11B coding regions subjected to control by the ZEB2 promoter seems to be the leukemogenic mechanism behind the translocation.

  17. Cytogenetic profile of aplastic anaemia in Indian children.

    Science.gov (United States)

    Gupta, Vineeta; Kumar, Akash; Saini, Isha; Saxena, Ajit Kumar

    2013-03-01

    Aplastic anaemia is a rare haematological disorder characterized by pancytopenia with a hypocellular bone marrow. It may be inherited/genetic or acquired. Acquired aplastic anaemia has been linked to many drugs, chemicals and viruses. Cytogenetic abnormalities have been reported infrequently with acquired aplastic anaemia. Majority of the studies are in adult patients from the West. We report here cytogenetic studies on paediatric patients with acquired aplastic anaemia seen in a tertiary care hospital in north India. Patients (n=71, age 4-14 yr) were diagnosed according to the guidelines of International Agranulocytosis and Aplastic Anaemia Study. Conventional cytogenetics with Giemsa Trypsin Giemsa (GTG) banding was performed. Karyotyping was done according to the International System for Human Cytogenetics Nomenclature (ISCN). Of the 71 patients, 42 had successful karyotyping where median age was 9 yr; of these 42, 27 (64.3%) patients had severe, nine (21.4%) had very severe and six (14.3%) had non severe aplastic anaemia. Five patients had karyotypic abnormalities with trisomy 12 (1), trisomy 8 (1) and monosomy 7 (1). Two patients had non numerical abnormalities with del 7 q - and t (5:12) in one each. Twenty nine patients had uninformative results. There was no difference in the clinical and haematological profile of patients with normal versus abnormal cytogenetics although the number of patients was small in the two groups. Five (11.9%) patients with acquired aplastic anaemia had chromosomal abnormalities. Trisomy was found to be the commonest abnormality. Cytogenetic abnormalities may be significant in acquired aplastic anaemia although further studies on a large sample are required to confirm the findings.

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

    International Nuclear Information System (INIS)

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

    1995-12-01

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

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

    International Nuclear Information System (INIS)

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

    1996-01-01

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

  20. U.S. Residential Photovoltaic (PV) System Prices, Q4 2013 Benchmarks: Cash Purchase, Fair Market Value, and Prepaid Lease Transaction Prices

    Energy Technology Data Exchange (ETDEWEB)

    Davidson, C.; James, T. L.; Margolis, R.; Fu, R.; Feldman, D.

    2014-10-01

    The price of photovoltaic (PV) systems in the United States (i.e., the cost to the system owner) has dropped precipitously in recent years, led by substantial reductions in global PV module prices. This report provides a Q4 2013 update for residential PV systems, based on an objective methodology that closely approximates the book value of a PV system. Several cases are benchmarked to represent common variation in business models, labor rates, and module choice. We estimate a weighted-average cash purchase price of $3.29/W for modeled standard-efficiency, polycrystalline-silicon residential PV systems installed in the United States. This is a 46% decline from the 2013-dollar-adjusted price reported in the Q4 2010 benchmark report. In addition, this report frames the cash purchase price in the context of key price metrics relevant to the continually evolving landscape of third-party-owned PV systems by benchmarking the minimum sustainable lease price and the fair market value of residential PV systems.

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  2. Aspects of High-Q Tunable Antennas and Their Deployment for 4G Mobile Communications

    DEFF Research Database (Denmark)

    Bahramzy, Pevand; Jagielski, Ole; Svendsen, Simon

    2016-01-01

    Tunable antennas are very promising for future generations of mobile communications, where broad frequency coverage will be required increasingly. This work describes the design of small high-Quality factor (Q) tunable antennas based on Micro-Electro-Mechanical Systems (MEMS), which are capable...... of operation in the frequency ranges 600 - 960 MHz and 1710 - 2690 MHz. Some aspects of high-Q tunable antennas are investigated through experimental measurements and the result are presented. Results show that more than -30 dB of isolation can be achieved between the Transmit (Tx) and Receive (Rx) antennas...

  3. Drosophila Longevity Assurance Conferred by Reduced Insulin Receptor Substrate Chico Partially Requires d4eBP.

    Directory of Open Access Journals (Sweden)

    Hua Bai

    Full Text Available Mutations of the insulin/IGF signaling (IIS pathway extend Drosophila lifespan. Based on genetic epistasis analyses, this longevity assurance is attributed to downstream effects of the FOXO transcription factor. However, as reported FOXO accounts for only a portion of the observed longevity benefit, suggesting there are additional outputs of IIS to mediate aging. One candidate is target of rapamycin complex 1 (TORC1. Reduced TORC1 activity is reported to slow aging, whereas reduced IIS is reported to repress TORC1 activity. The eukaryotic translation initiation factor 4E binding protein (4E-BP is repressed by TORC1, and activated 4E-BP is reported to increase Drosophila lifespan. Here we use genetic epistasis analyses to test whether longevity assurance mutants of chico, the Drosophila insulin receptor substrate homolog, require Drosophila d4eBP to slow aging. In chico heterozygotes, which are robustly long-lived, d4eBP is required but not sufficient to slow aging. Remarkably, d4eBP is not required or sufficient for chico homozygotes to extend longevity. Likewise, chico heterozygote females partially require d4eBP to preserve age-dependent locomotion, and both chico genotypes require d4eBP to improve stress-resistance. Reproduction and most measures of growth affected by either chico genotype are always independent of d4eBP. In females, chico heterozygotes paradoxically produce more rather than less phosphorylated 4E-BP (p4E-BP. Altered IRS function within the IIS pathway of Drosophila appears to have partial, conditional capacity to regulate aging through an unconventional interaction with 4E-BP.

  4. $q$-norms are really norms

    OpenAIRE

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

    2005-01-01

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

  5. QqZ decays at Tevatron and SSC energies

    International Nuclear Information System (INIS)

    Agrawal, P.; Ellis, S.D.

    1990-09-01

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

  6. 18q- and 18q+ mosaicism in a mentally retarded boy

    NARCIS (Netherlands)

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

    1994-01-01

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

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

    Science.gov (United States)

    Whitney. Ward

    2010-01-01

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

  8. Partial Purification of Antimicrobial Compounds Isolated from Mycelia of Tropical Lentinus cladopus LC4

    OpenAIRE

    SUDIRMAN, LISDAR IDWAN

    2010-01-01

    Lentinus cladopus LC4 produced at least eight antimicrobial compounds (ACs) which are active against plant and human pathogens. Three ACs in its crude mycelial were extracted with methanol and partial purification was carried out with silicic acid column chromatography and by thin layer chromatography (PTLC). The antimicrobial activity was tested by paper disc method and antibiographic method. The chromatography purification eluted with dichloromethane containing 5% methanol gave one active f...

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

    Science.gov (United States)

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

    2014-01-01

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

  10. Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence.

    Science.gov (United States)

    Lin, Peng; Hartz, Sarah M; Wang, Jen-Chyong; Agrawal, Arpana; Zhang, Tian-Xiao; McKenna, Nicholas; Bucholz, Kathleen; Brooks, Andrew I; Tischfield, Jay A; Edenberg, Howard J; Hesselbrock, Victor M; Kramer, John R; Kuperman, Samuel; Schuckit, Marc A; Goate, Alison M; Bierut, Laura J; Rice, John P

    2012-09-01

    Excessive alcohol use is the third leading cause of preventable death and is highly correlated with alcohol dependence, a heritable phenotype. Many genetic factors for alcohol dependence have been found, but many remain unknown. In search of additional genetic factors, we examined the association between Diagnostic and StatisticalManual of Mental Disorders, Fourth Edition (DSM-IV) alcohol dependence and all common copy number variations (CNVs) with good reliability in the Study of Addiction: Genetics and Environment (SAGE). All participants in SAGE were interviewed using the Semi-Structured Assessment for the Genetics of Alcoholism, as a part of 3 contributing studies. A total of 2,610 non-Hispanic European American samples were genotyped on the Illumina Human 1M array. We performed CNV calling by CNVPartition, PennCNV, and QuantiSNP, and only CNVs identified by all 3 software programs were examined. Association was conducted with the CNV (as a deletion/duplication) as well as with probes in the CNV region. Quantitative polymerase chain reaction (qPCR) was used to validate the CNVs in the laboratory. CNVs in 6q14.1 (p = 1.04 × 10(-6)) and 5q13.2 (p = 3.37 × 10(-4)) were significantly associated with alcohol dependence after adjusting multiple tests. On chromosome 5q13.2, there were multiple candidate genes previously associated with various neurological disorders. The region on chromosome 6q14.1 is a gene desert that has been associated with mental retardation and language delay. The CNV in 5q13.2 was validated, whereas only a component of the CNV on 6q14.1 was validated by qPCR. Thus, the CNV on 6q14.1 should be viewed with caution. This is the first study to show an association between DSM-IV alcohol dependence and CNVs. CNVs in regions previously associated with neurological disorders may be associated with alcohol dependence. Copyright © 2012 by the Research Society on Alcoholism.

  11. Q-instantons

    NARCIS (Netherlands)

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

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

  12. A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.

    Science.gov (United States)

    Aleksiūnienė, Beata; Preiksaitiene, Egle; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas

    2018-01-01

    Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23.1 region, arr[GRCh37] 1q22q23.1(155630752_157193893)×1. Real-time PCR analysis confirmed its de novo origin. The deleted region encompasses 50 protein-coding genes, including the morbid genes APOA1BP, ARHGEF2, LAMTOR2, LMNA, NTRK1, PRCC, RIT1, SEMA4A, and YY1AP1. Although the unique phenotype observed in our patient can arise from the haploinsufficiency of the dosage-sensitive LMNA gene, the dosage imbalance of other genes implicated in the rearrangement could also contribute to the phenotype. Further studies are required for the delineation of the phenotype associated with this rare chromosomal alteration and elucidation of the critical genes for manifestation of the specific clinical features. © 2018 S. Karger AG, Basel.

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

    Science.gov (United States)

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

    2006-03-28

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

  14. Defining the minimal structural requirements for partial agonism at the type I myo-inositol 1,4,5-trisphosphate receptor.

    Science.gov (United States)

    Wilcox, R A; Fauq, A; Kozikowski, A P; Nahorski, S R

    1997-02-03

    The novel synthetic analogues D-3-fluoro-myo-inositol 1,5-bisphosphate-4-phosphorothioate, [3F-Ins(1,5)P2-4PS], D-3-fluoro-myo-inositol 1,4-bisphosphate-5-phosphorothioate [3F-Ins(1,4)P2-5PS], and D-3-fluoro-myo-inositol 1-phosphate-4,5-bisphosphorothioate [3F-Ins(1)P-(4,5)PS2] were utilised to define the structure-activity relationships which could produce partial agonism at the Ca2+ mobilising myo-inositol 1,4,5-trisphosphate [Ins(1,4,5)P3] receptor. Based on prior structure-activity data we hypothesised that the minimal structural requirements for lns(1,4,5)P3 receptor partial agonism, were phosphorothioate substitution of the crucial vicinal 4,5-bisphosphate pair accompanied by another structural perturbation, such fluorination of 3-position of the myo-inositol ring. All the analogues fully displaced [3H]Ins(1,4,5)P3 from a single Ins(1,4,5)P3 binding site in pig cerebellar membranes [3F-Ins(1,5)P2-4PS (1C50 = 26 nM), 3F-Ins(1,4)P2-5PS (IC50 = 80 nM) and 3F-Ins(1)P-(4,5)PS2 (IC50 = 109 nM) cf. Ins(1,4,5)P3 (IC50 = 11 nM)]. In contrast, 3F-Ins(1,5)P2-4PS (IC50 = 424 nM) and 3F-Ins(1,4)P2-5PS (IC50 = 3579 nM) were weak full agonists at the Ca2+ mobilising Ins(1,4,5)P3 receptor of permeabilised SH-SY5Y neuroblastoma cells, being respectively 4- and 36-fold less potent than Ins(1,4,5)P3 (EC50 = 99 nM). While 3F-Ins(1)P-(4,5)PS2 (EC50 = 11345 nM) was a partial agonist releasing only 64.3 +/- 1.9% of the Ins(1,4,5)P3-sensitive intracellular Ca2+ pools. 3F-Ins(1)P-(4,5)PS2 was unique among the Ins(1,4,5)P3 receptor partial agonists so far identified in having a relatively high affinity for the Ins(1,4,5)P3 binding site, accompanied by a significant loss of intrinsic activity for Ca2+ mobilisation. This improved affinity was probably due to the retention of the 1-position phosphate, which enhances interaction with the Ins-(1,4,5)P3 receptor. 3F-Ins(1)P-(4,5)PS2 may be an important lead compound for the development of efficient Ins(1,4,5)P3 receptor antagonists.

  15. Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk.

    Science.gov (United States)

    Guo, Xingyi; Long, Jirong; Zeng, Chenjie; Michailidou, Kyriaki; Ghoussaini, Maya; Bolla, Manjeet K; Wang, Qin; Milne, Roger L; Shu, Xiao-Ou; Cai, Qiuyin; Beesley, Jonathan; Kar, Siddhartha P; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Benitez, Javier; Blot, William; Bogdanova, Natalia; Bojesen, Stig E; Brauch, Hiltrud; Brenner, Hermann; Brinton, Louise; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Cai, Hui; Canisius, Sander; Chang-Claude, Jenny; Choi, Ji-Yeob; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Darabi, Hatef; Devilee, Peter; Droit, Arnaud; Dörk, Thilo; Fasching, Peter A; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gaborieau, Valerie; García-Closas, Montserrat; Giles, Graham G; Grip, Mervi; Guénel, Pascal; Haiman, Christopher A; Hamann, Ute; Hartman, Mikael; Hollestelle, Antoinette; Hopper, John L; Hsiung, Chia-Ni; Ito, Hidemi; Jakubowska, Anna; Johnson, Nichola; Kabisch, Maria; Kang, Daehee; Khan, Sofia; Knight, Julia A; Kosma, Veli-Matti; Lambrechts, Diether; Le Marchand, Loic; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; Matsuo, Keitaro; McLean, Catriona A; Meindl, Alfons; Muir, Kenneth; Neuhausen, Susan L; Nevanlinna, Heli; Nord, Silje; Olson, Janet E; Orr, Nick; Peterlongo, Paolo; Putti, Thomas Choudary; Rudolph, Anja; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schmidt, Marjanka K; Schmutzler, Rita K; Shen, Chen-Yang; Shi, Jiajun; Shrubsole, Martha J; Southey, Melissa C; Swerdlow, Anthony; Teo, Soo Hwang; Thienpont, Bernard; Toland, Amanda Ewart; Tollenaar, Robert A E M; Tomlinson, Ian P M; Truong, Thérèse; Tseng, Chiu-Chen; van den Ouweland, Ans; Wen, Wanqing; Winqvist, Robert; Wu, Anna; Yip, Cheng Har; Zamora, M Pilar; Zheng, Ying; Hall, Per; Pharoah, Paul D P; Simard, Jacques; Chenevix-Trench, Georgia; Dunning, Alison M; Easton, Douglas F; Zheng, Wei

    2015-11-01

    A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium. Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P = 2.51 × 10(-4); OR, 1.04; 95% confidence interval (CI), 1.02-1.07] and rs77928427 (P = 1.86 × 10(-4); OR, 1.04; 95% CI, 1.02-1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r(2) ≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor-binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue. Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk. ©2015 American Association for Cancer Research.

  16. Q2/Q3 2017 Solar Industry Update

    Energy Technology Data Exchange (ETDEWEB)

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

    2017-10-24

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

  17. Q2/Q3 2016 Solar Industry Update

    Energy Technology Data Exchange (ETDEWEB)

    Feldman, David; Boff, Daniel; Margolis, Robert

    2016-10-11

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

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

    Directory of Open Access Journals (Sweden)

    Grabe Hans

    2010-06-01

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

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

    Science.gov (United States)

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

    2014-08-05

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

  20. Hepatoprotective effect of taurine and coenzyme Q10 and their ...

    African Journals Online (AJOL)

    CoQ10) for mitigation of acrylamide- induced oxidative damage. . Method: Acrylamide (AA), TA and CoQ10 were administered orally to rats for 2 and 4 weeks. Sixty albino rats of either sex weighing 200 ± 5 were randomly divided into five groups; ...