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.

Microdeletions at DYS448 and DYS387S1 associate with increased risk of male infertility.

Science.gov (United States)

Li, Yanqing; Zhao, Qiurong; Liu, Hai

2017-10-01

Male infertility affects many people of reproductive age. Diagnosis and therapies based on descriptive semen parameters have helped some of the infertility patients; however, further progress in reproductive therapy demands a better understanding of the molecular and genetic causes for male infertility. Although Y chromosome microdeletions have been a hot subject of genetic studies on male infertility, the relationship between male infertility and microdeletions at Y chromosome loci DYS448, DYS387, and DYS627 remains unclear. Here we analyzed the microdeletions at these three loci in 200 infertility male patients and 200 healthy subjects and showed that microdeletions at DYS448 and DYS387 correlate with male infertility. Our results suggest that genetic analyses of Y chromosome loci DYS448 and DYS387 can be genetic markers for reproductive diagnosis and therapy.

The prevalence of Y chromosome microdeletions in Pakistani infertile men

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Rubina Tabassum Siddiqui

2013-01-01

Full Text Available Background: Microdeletions of the azoospermia factor locus of the long arm of Y chromosome are an etiological factor of severe oligozoospermia or azoospermia. Objective: The aim of this study was to investigate the prevalence of Y-chromosome microdeletions in AZF region and their role in infertility in Pakistani population. Materials and Methods: The type of deletions in AZF locus were detected in infertile men (n=113 and the association of Y chromosome microdeletions with male infertility was assessed by including men (50 with normal karyotype and having children. Y chromosome microdeletions were detected by multiplex PCR using 10 sequence tagged sites namely sY81, sY130, sY141, sY142, sY155, sY157, sY160, sY182, sY231, and sY202 that covered all three regions of AZF. Results: Individuals with severe oligozoospermia showed 2.86% deletion frequency in AZFc region as compared to azoospermic males (5.5%. Conclusion: The results of our study showed that deletions in Y chromosome are not playing major part in male infertility. Moreover, multiplex-PCR strategy might preferably be employed for the detection of Y chromosome microdeletions allied to male infertility.

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

DEFF Research Database (Denmark)

Helbig, Ingo; Mefford, Heather C; Sharp, Andrew J

2009-01-01

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

Osr1 Interacts Synergistically with Wt1 to Regulate Kidney Organogenesis.

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Jingyue Xu

Full Text Available Renal hypoplasia is a common cause of pediatric renal failure and several adult-onset diseases. Recent studies have associated a variant of the OSR1 gene with reduction of newborn kidney size and function in heterozygotes and neonatal lethality with kidney defects in homozygotes. How OSR1 regulates kidney development and nephron endowment is not well understood, however. In this study, by using the recently developed CRISPR genome editing technology, we genetically labeled the endogenous Osr1 protein and show that Osr1 interacts with Wt1 in the developing kidney. Whereas mice heterozygous for either an Osr1 or Wt1 null allele have normal kidneys at birth, most mice heterozygous for both Osr1 and Wt1 exhibit defects in metanephric kidney development, including unilateral or bilateral kidney agenesis or hypoplasia. The developmental defects in the Osr1+/-Wt1+/- mouse embryos were detected as early as E10.5, during specification of the metanephric mesenchyme, with the Osr1+/-Wt1+/- mouse embryos exhibiting significantly reduced Pax2-positive and Six2-positive nephron progenitor cells. Moreover, expression of Gdnf, the major nephrogenic signal for inducing ureteric bud outgrowth, was significantly reduced in the metanephric mesenchyme in Osr1+/-Wt1+/- embryos in comparison with the Osr1+/- or Wt1+/- littermates. By E11.5, as the ureteric buds invade the metanephric mesenchyme and initiate branching morphogenesis, kidney morphogenesis was significantly impaired in the Osr1+/-Wt1+/- embryos in comparison with the Osr1+/- or Wt1+/- embryos. These results indicate that Osr1 and Wt1 act synergistically to regulate nephron endowment by controlling metanephric mesenchyme specification during early nephrogenesis.

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

DEFF Research Database (Denmark)

Lal, Dennis; Ruppert, Ann-Kathrin; Trucks, Holger

2015-01-01

contribution of recurrent microdeletions at genomic rearrangement hotspots and non-recurrent microdeletions, and 3) identify potential candidate genes for GGE. We found a significant excess of microdeletions in 7.3% of GGE patients compared to 4.0% in controls (P = 1.8 x 10-7; OR = 1.9). Recurrent...

22q11.2 microdeletion syndrome as a multidisciplinary problem

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Marta Skoczyńska

2017-12-01

Full Text Available 22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent deletion in the human chromosome. Its prevalence is estimated at about 1:9,700 newborns, but this is probably an underestimation. In over 90% of cases, the disease is caused by de novo microdeletion in the long arm of chromosome 22, and more rarely by microdeletion of the short arm of this chromosome or by a gene TBX1 point mutation. The consequences of these genotypic disorders are developmental anomalies of the third and fourth pharyngeal arches during the foetal life, which leads to abnormal development of the thymus, parathyroid glands and major cardiac vessels. The characteristic triad of symptoms includes a cardiac defect, hypocalcaemic tetany (hypoparathyroidism and immunodeficiency. The syndrome may also manifest as facial dysmorphia, palate defects, gastrointestinal abnormalities, urogenital malformations, autoimmune diseases and psychiatric disorders. Standard tests to diagnose this syndrome are molecular studies, such as fluorescence in situ hybridization, array comparative genomic hybridization and a type of polymerase chain reaction: multiplex ligationdependent probe amplification. The therapy of DiGeorge syndrome may include: calcium supplementation, surgical correction of cardiac and palate defects, treatment of immunodeficiency by injections of immunoglobulins, stem cell transplantation or, in rare cases, thymus transplantation. The management of DiGeorge syndrome requires a multidisciplinary approach. Early diagnosis and treatment significantly improve patient’s chances for normal functioning in adult life.

Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

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Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar

2012-01-01

We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. Copyright © 2011 S. Karger AG, Basel.

Microdeletion and microduplication analysis of chinese conotruncal defects patients with targeted array comparative genomic hybridization.

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Xiaohui Gong

Full Text Available OBJECTIVE: The current study aimed to develop a reliable targeted array comparative genomic hybridization (aCGH to detect microdeletions and microduplications in congenital conotruncal defects (CTDs, especially on 22q11.2 region, and for some other chromosomal aberrations, such as 5p15-5p, 7q11.23 and 4p16.3. METHODS: Twenty-seven patients with CTDs, including 12 pulmonary atresia (PA, 10 double-outlet right ventricle (DORV, 3 transposition of great arteries (TGA, 1 tetralogy of Fallot (TOF and one ventricular septal defect (VSD, were enrolled in this study and screened for pathogenic copy number variations (CNVs, using Agilent 8 x 15K targeted aCGH. Real-time quantitative polymerase chain reaction (qPCR was performed to test the molecular results of targeted aCGH. RESULTS: Four of 27 patients (14.8% had 22q11.2 CNVs, 1 microdeletion and 3 microduplications. qPCR test confirmed the microdeletion and microduplication detected by the targeted aCGH. CONCLUSION: Chromosomal abnormalities were a well-known cause of multiple congenital anomalies (MCA. This aCGH using arrays with high-density coverage in the targeted regions can detect genomic imbalances including 22q11.2 and other 10 kinds CNVs effectively and quickly. This approach has the potential to be applied to detect aneuploidy and common microdeletion/microduplication syndromes on a single microarray.

Y chromosome microdeletions frequency in idiopathic azoospermia, oligoasthenozoospermia, and oligospermia.

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Gholami, Delnya; Jafari-Ghahfarokhi, Hamideh; Nemati-Dehkordi, Maryam; Teimori, Hossien

2017-11-01

Genetic factors are candidates for about 30% of male infertility with sperm production-related abnormalities. Y chromosome microdeletions are responsible for around 10% of male infertility. These microdeletions generally occur in azoospermia factor on the Yq. That is often associated with the quantitative reduction of sperm. The aim of this cross-sectional study was to determine the frequency of Yq microdeletions among idiopathic azoospermic, oligoasthenozoospermic, and oligospermic men in Shohada infertility center, Chaharmahal va Bakhtiari province. A total of 81 idiopathic azoospermic, oligoasthenozoospermic, and oligospermic infertile men were selected as cases and 81 fertile men assigned to control group. For molecular investigations, 13 sequence-tagged site markers were chosen from azoospermia factor (AZF) region for detection of Y chromosome microdeletions and amplified by two separate multiplex-polymerase chain reaction. The relationship between the AZF microdeletions and incidence of male infertility in the family, consanguineous parents, smoking, and the levels of reproductive hormones among infertile men were investigated. The total frequency of the microdeletions was 6.17% (2 cases in azoospermic, 3 cases in oligoasthenozoospermic subgroups, and none in the oligospermic participants and the control group). Most deletions (3.7%) were seen in the AZFb followed by the AZFc (2.46%) and none in AZFa. No significant association was seen between the microdeletions and clinical characteristics. Although the frequency of Yq chromosome microdeletions in Chaharmahal va Bakhtiari province is lower than the mean frequency of Iran, the frequency is comparable to those reported by some studies in Iran.

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.

Science.gov (United States)

Laffargue, Fanny; Bourthoumieu, Sylvie; Llanas, Brigitte; Baudouin, Véronique; Lahoche, Annie; Morin, Denis; Bessenay, Lucie; De Parscau, Loïc; Cloarec, Sylvie; Delrue, Marie-Ange; Taupiac, Emmanuelle; Dizier, Emilie; Laroche, Cécile; Bahans, Claire; Yardin, Catherine; Lacombe, Didier; Guigonis, Vincent

2015-03-01

17q12 microdeletion syndrome involves 15 genes, including HNF1B, and is considered to confer a high risk of neuropsychiatric disorders. Patients with HNF1B gene deletion diagnosed secondary to renal disorders are only very rarely reported to have neuropsychiatric disorders. Interestingly, however, when tested, patients with HNF1B gene deletion are found to have 17q12 deletion. This brings into question the extent to which 17q12 deletion is genuinely associated with severe neuropsychological disorders and in which patients. In this study, we sought to confirm 17q12 microdeletion in kidney patients initially diagnosed with HNF1B gene deletion and evaluate neuropsychological disorders in these patients compared with those with HNF1B point mutation. Thirty-nine children with HNF1B disorders (26 with deletions) diagnosed secondary to renal abnormalities were included in this prospective study and tested for 17q12 microdeletion and neuropsychological disorders. The same 17q12 microdeletion found in patients with neuropsychological disorders was identified in all of our patients with HNF1B deletion. Neurological examinations found no severe impairments except for one patient with autism. No significant differences were found between patients with deletions and those with point mutations as concerns learning abilities and schooling. Nevertheless, patients with deletions tended to have lower developmental quotients and more difficulties at school. Complete deletion of the HNF1B gene and 17q12 microdeletion syndrome are actually the same genetic disorder. The neuropsychological phenotype of patients appears less severe when 17q12 deletion is diagnosed secondary to kidney rather than neuropsychological abnormalities. These data may influence antenatal counselling. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Case Series: 2q33.1 Microdeletion Syndrome - Further delineation of the phenotype

OpenAIRE

2011-01-01

Abstract Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome, clinical features of which include significant learning difficulties, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. Haploinsufficiency of one gene within the deleted region, SATB2, has been suggested to be responsible for most of the features of the syndrome. We describe seven previously-unreported patients with delet...

Analysis list: Wt1 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available Wt1 Embryo,Kidney + mm9 http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/target/Wt1.1....tsv http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/target/Wt1.5.tsv http://dbarchive.biosciencedbc.jp/kyush...u-u/mm9/target/Wt1.10.tsv http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/colo/Wt1.Embryo.tsv,http://dbarchive.bioscience...dbc.jp/kyushu-u/mm9/colo/Wt1.Kidney.tsv http://dbarchive.biosciencedb...c.jp/kyushu-u/mm9/colo/Embryo.gml,http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/colo/Kidney.gml ...

Y chromosome microdeletions frequency in idiopathic azoospermia, oligoasthenozoospermia, and oligospermia

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Delnya Gholami

2017-11-01

Full Text Available Background: Genetic factors are candidates for about 30% of male infertility with sperm production-related abnormalities. Y chromosome microdeletions are responsible for around 10% of male infertility. These microdeletions generally occur in azoospermia factor on the Yq. That is often associated with the quantitative reduction of sperm. Objective: The aim of this cross-sectional study was to determine the frequency of Yq microdeletions among idiopathic azoospermic, oligoasthenozoospermic, and oligospermic men in Shohada infertility center, Chaharmahal va Bakhtiari province. Materials and Methods: A total of 81 idiopathic azoospermic, oligoasthenozoospermic, and oligospermic infertile men were selected as cases and 81 fertile men assigned to control group. For molecular investigations, 13 sequence-tagged site markers were chosen from azoospermia factor (AZF region for detection of Y chromosome microdeletions and amplified by two separate multiplex-polymerase chain reaction. The relationship between the AZF microdeletions and incidence of male infertility in the family, consanguineous parents, smoking, and the levels of reproductive hormones among infertile men were investigated. Results: The total frequency of the microdeletions was 6.17% (2 cases in azoospermic, 3 cases in oligoasthenozoospermic subgroups, and none in the oligospermic participants and the control group. Most deletions (3.7% were seen in the AZFb followed by the AZFc (2.46% and none in AZFa. No significant association was seen between the microdeletions and clinical characteristics. Conclusion: Although the frequency of Yq chromosome microdeletions in Chaharmahal va Bakhtiari province is lower than the mean frequency of Iran, the frequency is comparable to those reported by some studies in Iran.

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

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Ryan N Traylor

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

Molecular screening for Yq microdeletion in men with idiopathic ...

Indian Academy of Sciences (India)

Unknown

tility and 25 age-matched fertile controls were included in this study. ... son of the data on AZF deletions from different laboratories ... Clinical features in men with azoospermia factor microdeletions. ... This quantitative decline in semen quality.

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

Science.gov (United States)

Goumy, Carole; Laffargue, Fanny; Eymard-Pierre, Eléonore; Kemeny, Stéphen; Gay-Bellile, Mathilde; Gouas, Laetiti; Gallot, Denis; Francannet, Christine; Tchirkov, Andrei; Pebrel-Richard, Céline; Vago, Philippe

2015-01-01

Microdeletions of 17q12 encompassing TCF2 are associated with maturity-onset of diabetes of the young type 5, cystic renal disease, pancreatic atrophy, Mullerian aplasia in females and variable cognitive impairment. We report on a patient with a de novo 17q12 microdeletion, 1.8 Mb in size, associated with congenital diaphragmatic hernia (CDH). The 5-year-old male patient presented multicystic renal dysplasia kidneys, minor facial dysmorphic features and skeletal anomalies, but neither developmental delay nor behavioral abnormalities. CDH has been previously associated with the 17q12 microdeletion syndrome only in one prenatal case. The present study reinforces the hypothesis that CDH is part of the phenotype for 17q12 microdeletion and that 17q12 encompasses candidate(s) gene(s) involved in diaphragm development. We suggest that PIGW, a gene involved in an early step of GPI biosynthesis, could be a strong candidate gene for CDH. © 2014 Wiley Periodicals, Inc.

Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia

Institute of Scientific and Technical Information of China (English)

Carolina Gon(c)alves; Mariana Cunha; Eduardo Rocha; Susana Fernandes; Joaquina Silva; Luís Ferraz; Cristiano Oliveira; Alberto Barros; Mário Sousa

2017-01-01

The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection (ICSI),either using fresh (TESE) or frozen-thawed (TESE-C) testicular sperm and ejaculated sperm (EJAC).The originality of this work resides in the comparisons between the different types of Y-microdeletions (AZFa,AZFb,and AZFc) and treatments,with detailed demographic,stimulation,embryological,clinical,and newborn (NB) outcomes.Of 125 patients with Y-microdeletions,33 patients presented severe oligozoospermia (18 performed ICSI with ejaculated sperm) and 92 secretory azoospermia (65 went for TESE with 40 having successful sperm retrieval and performed ICSI).There were 51 TESE treatment cycles and 43 TESE-C treatment cycles,with a birth of 19 NB (2 in AZFa/TESE-C,12 in AZFc/TESE,and 5 in AZFc/TESE-C).Of the 29 EJAC cycles,there was a birth of 8 NB (in AZFc).In TESE and EJAC cycles,there were no significant differences in embryological and clinical parameters.In TESE-C cycles,there was a significant lower oocyte maturity rate,embryo cleavage rate and mean number of embryos transferred in AZFb,and a higher mean number of oocytes and lower fertilization rate in AZFc.In conclusion,although patients with AZFc microdeletions presented a high testicular sperm recovery rate and acceptable clinical outcomes,cases with AZFa and AZFb microdeletions presented a poor prognosis.Due to the reported heredity of microdeletions,patients should be informed about the infertile consequences on NB and the possibility of using preimplantation genetic diagnosis for female sex selection.

Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia

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Carolina Gonçalves

2017-01-01

Full Text Available The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection (ICSI, either using fresh (TESE or frozen-thawed (TESE-C testicular sperm and ejaculated sperm (EJAC. The originality of this work resides in the comparisons between the different types of Y-microdeletions (AZFa, AZFb, and AZFc and treatments, with detailed demographic, stimulation, embryological, clinical, and newborn (NB outcomes. Of 125 patients with Y-microdeletions, 33 patients presented severe oligozoospermia (18 performed ICSI with ejaculated sperm and 92 secretory azoospermia (65 went for TESE with 40 having successful sperm retrieval and performed ICSI. There were 51 TESE treatment cycles and 43 TESE-C treatment cycles, with a birth of 19 NB (2 in AZFa/TESE-C, 12 in AZFc/TESE, and 5 in AZFc/TESE-C. Of the 29 EJAC cycles, there was a birth of 8 NB (in AZFc. In TESE and EJAC cycles, there were no significant differences in embryological and clinical parameters. In TESE-C cycles, there was a significant lower oocyte maturity rate, embryo cleavage rate and mean number of embryos transferred in AZFb, and a higher mean number of oocytes and lower fertilization rate in AZFc. In conclusion, although patients with AZFc microdeletions presented a high testicular sperm recovery rate and acceptable clinical outcomes, cases with AZFa and AZFb microdeletions presented a poor prognosis. Due to the reported heredity of microdeletions, patients should be informed about the infertile consequences on NB and the possibility of using preimplantation genetic diagnosis for female sex selection.

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

DEFF Research Database (Denmark)

Thevenon, Julien; Monnier, Nicole; Callier, Patrick

2014-01-01

, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 microdeletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low...

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.

NARCIS (Netherlands)

Menko, F.H.; Kneepkens, C.M.; Leeuw, N. de; Peeters, E.A.; Maldergem, L. van; Kamsteeg, E.J.; Davidson, R.; Rozendaal, L.; Lasham, C.A.; Peeters-Scholte, C.M.; Jansweijer, M.C.E.; Hilhorst-Hofstee, Y.; Gille, J.J.P.; Heins, Y.M.; Nieuwint, A.W.; Sistermans, E.A.

2008-01-01

Infantile juvenile polyposis is a rare disease with severe gastrointestinal symptoms and a grave clinical course. Recently, 10q23 microdeletions involving the PTEN and BMPR1A genes were found in four patients with infantile juvenile polyposis. It was hypothesized that a combined and synergistic

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

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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.

Genetics Home Reference: 5q31.3 microdeletion syndrome

Science.gov (United States)

... up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. Mol Cytogenet. 2015 Nov 14;8:89. doi: 10.1186/s13039-015-0193-9. eCollection 2015. ... 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. ...

Study of Y Chromosome Microdeletion in AZF Region in Infertile Males of Isfahan Population

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M Motovali-Bashi

2013-02-01

Full Text Available Abstract Background & aim: One of the main genetic factors of infertility is the deletions in the chromosome Y. Accordingly this study was conducted to determine the frequency of microdeletion of AZF region in infertile men of Isfahan, Iran. Methods: In this case-control study, 100 infertile men referred to the Infertility Center of Isfahan and 100 fertile men as controls were randomly selected. Genomic DNA was extracted from their blood and amplified by sequence tagged sites-polymerase chain reaction (STS-PCR method. The presence of microdeletion in AZF locus was diagnosed. Results: No AZFa, AZFb or AZFc deletions were found in the control group. Microdeletions were observed in one patient in AZFb region, eight patients in AZFc region and two patients in AZFa region. Conclusion: The incidence of Yq microdeletions in Iranian population is similar to the international frequency. Our data agree with other studies regarding microdeletions of AZFc, but for microdeletions of AZFa (2% our results show smaller frequency and differ significantly with many studies. Key words: Infertility, Y chromosome, Microdeletion

A Mouse Model that Recapitulates Cardinal Features of the 15q13.3 Microdeletion Syndrome Including Schizophrenia- and Epilepsy-Related Alterations

DEFF Research Database (Denmark)

Fejgin, Kim; Nielsen, Jacob; Birknow, Michelle R.

2014-01-01

to develop myoclonic and absence-like seizures but decreased propensity for clonic and tonic seizures. Furthermore, they had impaired long-term spatial reference memory and a decreased theta frequency in hippocampus and prefrontal cortex. Electroencephalogram characterization revealed auditory processing......Background: Genome-wide scans have uncovered rare copy number variants conferring high risk of psychiatric disorders. The 15q13.3 microdeletion is associated with a considerably increased risk of idiopathic generalized epilepsy, intellectual disability, and schizophrenia. Methods: A 15q13.......3 microdeletion mouse model (Df[h15q13]/) was generated by hemizygous deletion of the orthologous region and characterized with focus on schizophrenia- and epilepsy-relevant parameters. Results: Df(h15q13)/ mice showed marked changes in neuronal excitability in acute seizure assays, with increased propensity...

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

Science.gov (United States)

Burnside, Rachel D; Pasion, Romela; Mikhail, Fady M; Carroll, Andrew J; Robin, Nathaniel H; Youngs, Erin L; Gadi, Inder K; Keitges, Elizabeth; Jaswaney, Vikram L; Papenhausen, Peter R; Potluri, Venkateswara R; Risheg, Hiba; Rush, Brooke; Smith, Janice L; Schwartz, Stuart; Tepperberg, James H; Butler, Merlin G

2011-10-01

The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1-BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by either of the proximal BP1 or BP2 breakpoints and the distal BP3 breakpoint. The larger Type I deletions are flanked by BP1 and BP3 in both Prader-Willi and Angelman syndrome subjects. Those with this deletion are reported to have a more severe phenotype than individuals with either Type II deletions (BP2-BP3) or uniparental disomy 15. The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes that are not imprinted. Reports of mutations or disturbed expression of these genes appear to impact behavioral and neurological function in affected individuals. Recently, reports of deletions and duplications flanked by BP1 and BP2 suggest an association with speech and motor delays, behavioral problems, seizures, and autism. We present a large cohort of subjects with copy number alteration of BP1 to BP2 with common phenotypic features. These include autism, developmental delay, motor and language delays, and behavioral problems, which were present in both cytogenetic groups. Parental studies demonstrated phenotypically normal carriers in several instances, and mildly affected carriers in others, complicating phenotypic association and/or causality. Possible explanations for these results include reduced penetrance, altered gene dosage on a particular genetic background, or a susceptibility region as reported for other areas of the genome implicated in autism and behavior disturbances.

AZF Microdeletions in Human Semen Infected with Bacteria

Directory of Open Access Journals (Sweden)

Hayfa H Hassani

2011-11-01

Full Text Available Bacterial infections are associated with infertility in men. This study was aimed to investigate microdeletions on Yq chromosome in semen infected with bacteria by using bacteriological, biochemical, and serological assays. The investigation showed that 107 of 300 (84.80% semen samples collected from infertile men with primary or secondary infertility were infected with different species of bacteria. Chlamydia trachomatis and Neisseria gonorrheae were the most frequently diagnosed bacteria in the infected semen samples. The percentages of infections of semen samples with C. trachomatis and N. gonorrhea were 42.31% and 35.28% respectively. Genomic DNA from each semen sample infected with predominant bacteria was analyzed for AZF deletions by using multiplex PCR. Different patterns of AZF microdeletions were obtained. It can be concluded that sexually transmitted bacteria may contribute in microdeletions of Yq chromosome by indirectly producing reactive oxygen species and causing gene defect in AZF regions.

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Science.gov (United States)

Thevenon, Julien; Monnier, Nicole; Callier, Patrick; Dieterich, Klaus; Francoise, Michel; Montgomery, Tara; Kjaergaard, Susanne; Neas, Katherine; Dixon, Joanne; Dahm, Thomas Lee; Huet, Frédéric; Ragon, Clémence; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Duplomb, Laurence; Aubriot-Lorton, Marie-Hélène; Mugneret, Francine; Vokes, Steve A; Tucker, Haley W; Lunardi, Joël; Faivre, Laurence; Jouk, Pierre Simon; Thauvin-Robinet, Christel

2014-12-01

Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20-25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 microdeletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously reported cases with a precise mapping of the deletions, documented a 250 kb smallest region of overlap (SRO) necessary for DLC. This region contained one gene, EIF4E3, the first three exons of the FOXP1 gene, and an intronic enhancer of FOXP1 named hs1149. Sanger sequencing and locus quantification of hs1149, EIF4E3, and FOXP1 in a cohort of 11 French patients affected by DLC appeared normal. In conclusion, we delineate a new microdeletion syndrome involving the 3p14.1p13 locus and associated with DLC and severe developmental delay. © 2014 Wiley Periodicals, Inc.

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

DEFF Research Database (Denmark)

Wohlleber, Eva; Kirchhoff, Eva Maria; Zink, Alexander M

2011-01-01

Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures, sensorineural hearing loss, and relative...... microcephaly. In patient 1, molecular karyotyping detected a 2.23-Mb deletion in chromosome 2p14-p15 including 11 known genes. The second patient, with a 2.84-Mb microdeletion containing 15 genes, was identified in the DECIPHER database. The two deleted regions overlap by a stretch of 1.6 Mb that contains 10...

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

Science.gov (United States)

Accogli, Andrea; Traverso, Monica; Madia, Francesca; Bellini, Tommaso; Vari, Maria Stella; Pinto, Francesca; Capra, Valeria

2017-07-03

Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been reported to have congenital cardiac defects. Nance-Horan syndrome is caused by mutations in the NHS gene that is highly expressed in the midbrain, retina, lens, tooth, and is conserved across vertebrate species. Although most pathogenic mutations are nonsense mutations, a few genomic rearrangements involving NHS locus have been reported, suggesting a possible pathogenic role of the flanking genes. Here, we report a microdeletion of 170,6 Kb at Xp22.13 (17.733.948-17.904.576) (GRCh37/hg19), detected by array-based comparative genomic hybridization in an Italian boy with NHS syndrome. The microdeletion harbors the NHS, SCLML1, and RAI2 genes and results in a phenotype consistent with NSH syndrome and developmental delay. We compare our case with the previous Xp22.13 microdeletions and discuss the possible pathogenetic role of the flanking genes. Birth Defects Research 109:866-868, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Y chromosome microdeletions and alterations of spermatogenesis, patient approach and genetic counseling.

Science.gov (United States)

Rives, Nathalie

2014-05-01

Infertility affects 15% of couples at reproductive age and human male infertility appears frequently idiopathic. The main genetic causes of spermatogenesis defect responsible for non-obstructive azoospermia and severe oligozoospermia are constitutional chromosomal abnormalities and microdeletions in the azoospermia factor region of the Y chromosome. The improvement of the Yq microdeletion screening method gave new insights in the mechanism responsible for the genesis of Yq microdeletions and for the consequences of the management of male infertility and genetic counselling in case of assisted reproductive technology. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.

NARCIS (Netherlands)

Buysse, K.; Reardon, W.; Mehta, L.; Costa, T.; Fagerstrom, C.; Kingsbury, D.J.; Anadiotis, G.; McGillivray, B.C.; Hellemans, J.; Leeuw, N. de; Vries, L.B.A. de; Speleman, F.; Menten, B.; Mortier, G.

2009-01-01

Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and Buschke-Ollendorff lesions in bone and skin. This report on two additional patients with this microdeletion syndrome emphasizes the rather constant and

PREVALENCE OF Y CHROMOSOME MICRODELETIONS IN IRANIAN INFERTILE MEN

Directory of Open Access Journals (Sweden)

F. Akbari Asbagh

2003-07-01

Full Text Available This study was designed to determine the frequency of Y chromosome AZF (Azoospermia Factor subregions, microdeletions in patients with idiopathic nonobstructive azoospermia and severe oligozoospermia. Subjects included 40 men who had been referred to infertility clinics for assisted reproduction, 37 were azoospermic and 3 had severe oligospermia. Medical history and physical exam revealed no evidence of infection, obstruction of seminal tract, endocrine failure or chromosomal anomalies. Hormonal study was performed for all patients. Twenty six men had biopsies of the testes including 11 patients with hypospermatogenesis, 9 patients with maturation arrest, 4 patients with sertoli cell only syndrome and 2 patients with tubular sclerosis. In 14 men who did not have a testicular biopsy multiple, epididymal and testicular sperm aspirations under anesthesia failed and testicular sperm extraction was subsequently performed for ICSI. DNA was isolated from blood samples. Polymerase chain reaction (PCR amplification of 11 loci spanning the AZFa, AZFb and AZFc subregions of the Y chromosome using sY81, sY83, sY127, sY130, sY131, sY147, sY149, sY157, sY158, sY254 and sY276 was performed. Microdeletions of the Y chromosome were found in two of the patients (5%, who had azoospermia. Deletions were restricted to DAZ (deleted in azoospermia locus in AZFc subregion. One of the patients had a history of cryptorchidism and the second had undergone a left side varicocelectomy. Testicular pathology showed sertoli cell only syndrome in both of them. Our experience adds to the current logic that men with azoospermia or severe oligospermia should be evaluated for Yq11 microdeletions before deciding to operate varicoceles or else scheduling them for assisted reproductive techniques.

Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome

NARCIS (Netherlands)

Egger, J.I.M.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Dijkman, M.W.; Radke, S.; Bruijn, E.R.A. de; Vries, B. de; Kessels, R.P.C.; Koolen, D.A.

2013-01-01

The 17q21.31 microdeletion syndrome with its characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems was recently described. As to its behavioral profile, scarce data from clinical

17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

Science.gov (United States)

Dixit, Abhijit; Patel, Chirag; Harrison, Rachel; Jarvis, Joanna; Hulton, Sally; Smith, Nigel; Yates, Katherine; Silcock, Lee; McMullan, Dominic J; Suri, Mohnish

2012-09-01

Deletions of 17q12 are associated with renal cysts and maturity onset diabetes of the young, and have also been identified in women with reproductive tract anomalies due to Mullerian aplasia. Although initially identified in patients with normal cognitive ability, some patients with this recurrent microdeletion syndrome have learning problems. We identified a 17q12 microdeletion in three patients with renal cystic disease by array comparative genomic hybridization and the phenotypic spectrum of the 17q12 microdeletion syndrome is illustrated by the description of these patients. Of two patients who are old enough to be assessed, one has significant speech delay, autism spectrum disorder, and mild learning difficulty, while the other patient has only mild speech delay. This highlights the variability of cognitive involvement in this condition. The third patient presented with Alagille syndrome-like features in the neonatal period. All three patients had transient hypercalcemia in the neonatal period, a finding that has not previously been described in this condition. Moreover, two patients have mild or no dysmorphism, while one displays striking facial dysmorphism in addition to minor congenital anomalies. We suggest that while patients with 17q12 microdeletion syndrome can present with type 2 diabetes or renal cysts without any dysmorphic features, a subgroup may have dysmorphic features or present with neonatal cholestasis. Transient neonatal hypercalcemia may be a feature of this microdeletion syndrome. Copyright © 2012 Wiley Periodicals, Inc.

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.

Science.gov (United States)

Voelckel, Marie-Antoinette; Girardot, Lydie; Giusiano, Bernard; Levy, Nicolas; Philip, Nicole

2004-01-01

Microdeletion at the 22q11 locus is characterised by a high clinical variability. Congenital heart defects (CHD) are the most life-threatening manifestations of the syndrome and affect approximately 50% of patients carrying the deleted chromosome 22. The causes of this phenotype variability remain unknown although several hypotheses have been raised. It has been suggested that allelic variations at the haploid locus could modify the phenotypic expression. Regarding this hypothesis, TBX1 was thought to be a major candidate to the cardiac phenotype or its severity in patients carrying the 22q11 microdeletion. A mutational screening was performed in this gene, in a series of 39 deleted patients, with and without CHD. The results indicate that mutations in TBX1 are not likely to be involved in the cardiac phenotype observed in del22q11 patients.

Structures of native and affinity-enhanced WT1 epitopes bound to HLA-A*0201: Implications for WT1-based cancer therapeutics

Energy Technology Data Exchange (ETDEWEB)

Borbulevych, Oleg Y.; Do, Priscilla; Baker, Brian M. (Notre)

2010-09-07

Presentation of peptides by class I or class II major histocompatibility complex (MHC) molecules is required for the initiation and propagation of a T cell-mediated immune response. Peptides from the Wilms Tumor 1 transcription factor (WT1), upregulated in many hematopoetic and solid tumors, can be recognized by T cells and numerous efforts are underway to engineer WT1-based cancer vaccines. Here we determined the structures of the class I MHC molecule HLA-A*0201 bound to the native 126-134 epitope of the WT1 peptide and a recently described variant (R1Y) with improved MHC binding. The R1Y variant, a potential vaccine candidate, alters the positions of MHC charged side chains near the peptide N-terminus and significantly reduces the peptide/MHC electrostatic surface potential. These alterations indicate that the R1Y variant is an imperfect mimic of the native WT1 peptide, and suggest caution in its use as a therapeutic vaccine. Stability measurements revealed how the R1Y substitution enhances MHC binding affinity, and together with the structures suggest a strategy for engineering WT1 variants with improved MHC binding that retain the structural features of the native peptide/MHC complex.

Clinical experience of laboratory follow-up with noninvasive prenatal testing using cell-free DNA and positive microdeletion results in 349 cases.

Science.gov (United States)

Schwartz, S; Kohan, M; Pasion, R; Papenhausen, P R; Platt, L D

2018-02-01

Screening via noninvasive prenatal testing (NIPT) involving the analysis of cell-free DNA (cfDNA) from plasma has become readily available to screen for chromosomal and DNA aberrations through maternal blood. This report reviews a laboratory's experience with follow-up of positive NIPT screens for microdeletions. Patients that were screened positive by NIPT for a microdeletion involving 1p, 4p, 5p, 15q, or 22q who underwent diagnostic studies by either chorionic villus sampling or amniocentesis were evaluated. The overall positive predictive value for 349 patients was 9.2%. When a microdeletion was confirmed, 39.3% of the cases had additional abnormal microarray findings. Unrelated abnormal microarray findings were detected in 11.8% of the patients in whom the screen positive microdeletion was not confirmed. Stretches of homozygosity in the microdeletion were frequently associated with a false positive cfDNA microdeletion result. Overall, this report reveals that while cfDNA analysis will screen for microdeletions, the positive predictive value is low; in our series it is 9.2%. Therefore, the patient should be counseled accordingly. Confirmatory diagnostic microarray studies are imperative because of the high percentage of false positives and the frequent additional abnormalities not delineated by cfDNA analysis. © 2018 John Wiley & Sons, Ltd.

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

DEFF Research Database (Denmark)

Dibbens, Leanne M; Mullen, Saul; Helbig, Ingo

2009-01-01

Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We...... then set out to determine the relative occurrence of sporadic and familial cases and to examine the likelihood of having seizures for individuals with the microdeletion in familial cases. The 15q13.3 microdeletion was identified in 7 of 539 (1.3%) unrelated cases of IGE using quantitative PCR or SNP arrays...... and confirmed by array comparative genomic hybridization analysis using probes specific to the 15q13.3 region. The inheritance of this lesion was tracked using family studies. Of the seven microdeletions identified in probands, three were de novo, two were transmitted from an unaffected parent and in two cases...

Social cognition and the behavioural phenotype of 17q21.31 microdeletion syndrome

NARCIS (Netherlands)

Egger, J.I.M.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Dijkman, M.W.; Kessels, R.P.C.; Koolen, D.A.

2012-01-01

Introduction Recently, the 17q21.31 microdeletion syndrome was described with characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems. With respect to behaviour, scarce data from clinical

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome.

Science.gov (United States)

Genesio, Rita; Fontana, Paolo; Mormile, Angela; Casertano, Alberto; Falco, Mariateresa; Conti, Anna; Franzese, Adriana; Mozzillo, Enza; Nitsch, Lucio; Melis, Daniela

2015-01-01

The chromothripsis is a biological phenomenon, first observed in tumors and then rapidly described in congenital disorders. The principle of the chromothripsis process is the occurrence of a local shattering to pieces and rebuilding of chromosomes in a random order. Congenital chromothripsis rearrangements often involve reciprocal rearrangements on multiple chromosomes and have been described as cause of contiguous gene syndromes. We hypothesize that chromothripsis could be responsible for known 9q21.13 microdeletion syndrome, causing a composite phenotype with additional features. The case reported is a 16- years-old female with a complex genomic rearrangement of chromosome 9 including the critical region of 9q21.13 microdeletion syndrome. The patient presents with platelet disorder and thyroid dysfunction in addition to the classical neurobehavioral phenotype of the syndrome. The presence of multiple rearrangements on the same chromosome 9 and the rebuilding of chromosome in a random order suggested that the rearrangement could origin from an event of chromthripsis. To our knowledge this is the first report of congenital chromothripsis involving chromosome 9. Furthermore this is the only case of 9q21.13 microdeletion syndrome due to chromothripsis.

Effect of Pre-Aging Conditions on Bake-Hardening Response of Al-0.4 wt%Mg-1.2 wt%Si-0.1 wt%Mn Alloy Sheets

International Nuclear Information System (INIS)

Lee, Kwang-jin; Woo, Kee-do

2011-01-01

Pre-aging heat treatment after solution heat treatment (SHT) of Al-0.4 wt%Mg-1.2 wt%Si-0.1 wt%Mn alloy sheets for auto-bodies was carried out to investigate the effect of pre-aging and its conditions on the bake-hardening response. Mechanical properties were evaluated by a tensile and Vickers hardness test. Microstructural observation was also performed using a transmission electron microscope (TEM). It was revealed that pre-aging treatments play a great role in the bake-hardening response. In addition, it was found that the sphere-shaped nanosized clusters that can directly transit to the needle-shaped β” phase during the paint-bake process, not being dissolved into the matrix, are formed at 343 K. The result, reveals that the dominant factor of the bake-hardening response is the pre-aging temperature rather than the pre-aging time.

WT1 isoform expression pattern in acute myeloid leukemia.

Science.gov (United States)

Luna, Irene; Such, Esperanza; Cervera, Jose; Barragán, Eva; Ibañez, Mariam; Gómez-Seguí, Inés; López-Pavía, María; Llop, Marta; Fuster, Oscar; Dolz, Sandra; Oltra, Silvestre; Alonso, Carmen; Vera, Belén; Lorenzo, Ignacio; Martínez-Cuadrón, David; Montesinos, Pau; Senent, M Leonor; Moscardó, Federico; Bolufer, Pascual; Sanz, Miguel A

2013-12-01

WT1 plays a dual role in leukemia development, probably due to an imbalance in the expression of the 4 main WT1 isoforms. We quantify their expression and evaluate them in a series of AML patients. Our data showed a predominant expression of isoform D in AML, although in a lower quantity than in normal CD34+ cells. We found a positive correlation between the total WT1 expression and A, B and C isoforms. The overexpression of WT1 in AML might be due to a relative increase in A, B and C isoforms, together with a relative decrease in isoform D expression. Copyright © 2013 Elsevier Ltd. All rights reserved.

BASP1 is a transcriptional cosuppressor for the Wilms' tumor suppressor protein WT1

DEFF Research Database (Denmark)

Carpenter, Brian; Hill, Kathryn J; Charalambous, Marika

2004-01-01

The Wilms' tumor suppressor protein WT1 is a transcriptional regulator that plays a key role in the development of the kidneys. The transcriptional activation domain of WT1 is subject to regulation by a suppression region within the N terminus of WT1. Using a functional assay, we provide direct...... evidence that this requires a transcriptional cosuppressor, which we identify as brain acid soluble protein 1 (BASP1). WT1 and BASP1 associate within the nuclei of cells that naturally express both proteins. BASP1 can confer WT1 cosuppressor activity in transfection assays, and elimination of endogenous...

3q27.3 microdeletional syndrome

DEFF Research Database (Denmark)

Thevenon, Julien; Callier, Patrick; Poquet, Hélène

2014-01-01

BACKGROUND: Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. METHODS: We report for the first time seve...

Studies of Wilms’ Tumor (WT1 Gene Expression in Adult Acute Leukemias in Singapore

Directory of Open Access Journals (Sweden)

Che Kang Lim

2007-01-01

Full Text Available Biomarkers provide certain values for diagnosis, monitor treatment effi cacy, or for the development of novel therapeutic approach for particular diseases. Thus, the identifi cation of specifi c of biomarkers for specifi c medical problems, including malignant diseases may be valuable in medical practice. In the study, we have used the Wilms’ tumor gene (WT1 as a biomarker to evaluate its expression in local adult patients with newly diagnosed acute leukemia, including both acute myeloid and lymphoid leukemias (AML and ALL.Aim: To investigate WT1 gene expression in adult patients with acute leukemia at diagnosis.Methods: Eighteen patients with acute leukemia diagnosed at Singapore General Hospital, Singapore, between September, 2004 and July, 2005 were included in this study. There were fifteen AML and three ALL cases aged from 18 to 71 years old. Total RNA and DNA was extracted from peripheral blood mononuclear cells (PBMCs. Expression of WT1 was detected by nested reverse-transcription polymerase chain reaction (Nested RT-PCR. K562, and 3T3 cells were used as positive- and negative-controls. The results were revalidated using real-time PCR. HLA-A genotyping was performed using sequence specific oligonucleotide polymorphism (SSOP analysis.Results: WT1 gene was exclusively expressed in all eighteen, including three ALL and fi fteen AML, patients. In contrast with WT1 gene, the HLA-A genotyping was remarkably heterogeneous in these patients.Conclusions: WT1 gene expression was observed in local patients with acute leukemia at diagnosis. It may be used as a potential molecular marker for diagnosis, clinical progression of the diseases or monitoring the response to treatment, as well as a target for the development of novel therapeutic approaches.

Complex Phenotype Associated with 17q21.31 Microdeletion

Science.gov (United States)

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

2013-01-01

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

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

DEFF Research Database (Denmark)

Depienne, Christel; Nava, Caroline; Keren, Boris

2017-01-01

Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific featu...

De novo microdeletion of BCL11A is associated with severe speech sound disorder.

Science.gov (United States)

Peter, Beate; Matsushita, Mark; Oda, Kaori; Raskind, Wendy

2014-08-01

In 10 cases of 2p15p16.1 microdeletions reported worldwide to date, shared phenotypes included growth retardation, craniofacial and skeletal dysmorphic traits, internal organ defects, intellectual disability, nonverbal or low verbal status, abnormal muscle tone, and gross motor delays. The size of the deletions ranged from 0.3 to 5.7 Mb, where the smallest deletion involved the BCL11A, PAPOLG, and REL genes. Here we report on an 11-year-old male with a heterozygous de novo 0.2 Mb deletion containing a single gene, BCL11A, and a phenotype characterized by childhood apraxia of speech and dysarthria in the presence of general oral and gross motor dyspraxia and hypotonia as well as expressive language and mild intellectual delays. BCL11A is situated within the dyslexia susceptibility candidate region 3 (DYX3) candidate region on chromosome 2. The present case is the first to involve a single gene within the microdeletion region and a phenotype restricted to a subset of the traits observed in other cases with more extensive deletions. © 2014 Wiley Periodicals, Inc.

C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome

Energy Technology Data Exchange (ETDEWEB)

Konen, Osnat; Armstrong, Derek; Padfield, Nancy; Blaser, Susan [Hospital for Sick Children, Diagnostic Imaging, Toronto (Canada); Clarke, Howard [Hospital for Sick Children, Plastic Surgery, Toronto (Canada); Weksberg, Rosanna [Hospital for Sick Children, Clinical and Metabolic Genetics, Toronto (Canada)

2008-07-15

Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability. To evaluate the prevalence of craniovertebral junction anomalies in children with 22q11DS and compare these findings to those in nonsyndromic children with velopharyngeal insufficiency (VPI). Sequential CT scans performed for presurgical carotid assessment in 76 children (45 children positive for chromosome 22q11.2 deletion and 31 negative for the deletion) with VPI were retrospectively evaluated for assessment of C1-2 anomalies. C1-2 vertebral anomalies, specifically midline C1 defects, uptilted or upswept posterior elements of C2 and fusions of C2-3, were nearly universal in our cohort of 22q11DS patients with VPI. They were strikingly absent in the majority of non-22q11DS patients with VPI. C1-2 vertebral anomalies, particularly those listed above, are important radiographic markers for 22q11DS. (orig.)

C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome

International Nuclear Information System (INIS)

Konen, Osnat; Armstrong, Derek; Padfield, Nancy; Blaser, Susan; Clarke, Howard; Weksberg, Rosanna

2008-01-01

Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability. To evaluate the prevalence of craniovertebral junction anomalies in children with 22q11DS and compare these findings to those in nonsyndromic children with velopharyngeal insufficiency (VPI). Sequential CT scans performed for presurgical carotid assessment in 76 children (45 children positive for chromosome 22q11.2 deletion and 31 negative for the deletion) with VPI were retrospectively evaluated for assessment of C1-2 anomalies. C1-2 vertebral anomalies, specifically midline C1 defects, uptilted or upswept posterior elements of C2 and fusions of C2-3, were nearly universal in our cohort of 22q11DS patients with VPI. They were strikingly absent in the majority of non-22q11DS patients with VPI. C1-2 vertebral anomalies, particularly those listed above, are important radiographic markers for 22q11DS. (orig.)

Steady state creep during metastable phase transition in Al-16 wt% Ag and Al-16 wt% Ag-0.1 wt% Zr alloys

Energy Technology Data Exchange (ETDEWEB)

Deaf, G.H.; Youssef, S.B.; Mahmoud, M.A. [Ain Shams Univ., Cairo (Egypt). Dept. of Physics

1998-08-16

The early stages of decomposition of Guinier-Preston zones (G.P. zones) in Al-16 wt% Ag and Al-16 wt% Ag-0.1 wt% Zr alloys were investigated through creep measurements and electron microscopy observations. It was found that the strengthening and softening of the alloys has been achieved during the formation of metastable phases (G.P. zones and {gamma}`-phase) in the ageing temperature range (428 to 498 K). TEM investigations confirmed that the addition of zirconium to the Al-Ag alloy accelerates the formation and coarsening of the metastable phases. The mean values of activation energy of both alloys were found to be equal to that quoted for precipitate-dislocation interactions. (orig.) 23 refs.

Comparison of electrochemical performance of as-cast Pb-1 wt.% Sn and Pb-1 wt.% Sb alloys for lead-acid battery components

Energy Technology Data Exchange (ETDEWEB)

Osorio, Wislei R.; Peixoto, Leandro C.; Garcia, Amauri [Department of Materials Engineering, University of Campinas - UNICAMP, PO Box 612, 13083-970 Campinas, SP (Brazil)

2010-03-15

A comparative experimental study of the electrochemical features of as-cast Pb-1 wt.% Sn and Pb-1 wt.% Sb alloys is carried out with a view to applications in the manufacture of lead-acid battery components. The as-cast samples are obtained using a water-cooled unidirectional solidification system. Pb-Sn and Pb-Sb alloy samples having similar coarse cell arrays are subjected to corrosion tests in order to assess the effect of Sn or Sb segregation in the cell boundary on the electrochemical performance. Electrochemical impedance spectroscopy (EIS) diagrams, potentiodynamic polarization curves and an equivalent circuit analysis are used to evaluate the electrochemical parameters in a 0.5 M H{sub 2}SO{sub 4} solution at 25 C. Both the experimental and simulated EIS parameters evidence different kinetics of corrosion. The Pb-1 wt.% Sn alloy is found to have a current density which is of about three times lower than that of the Pb-1 wt.% Sb alloy which indicates that dilute Pb-Sn alloys have higher potential for application as positive grid material in maintenance-free Pb-acid batteries. (author)

Azoospermia factor microdeletion in infertile men with idiopathic ...

African Journals Online (AJOL)

T. Atia

2015-11-11

Nov 11, 2015 ... Abstract. Objectives: To determine Y-chromosome microdeletion of azoospermia factor (AZF) loci and the concomi- tant testicular pathology in azoospermic and severely oligozoospermic infertile men. Patients and methods: DNA from blood and semen of 50 azoospermic and severely oligozoospermic infer-.

Expression of the Wilms' tumor gene WT1 in the murine urogenital system.

Science.gov (United States)

Pelletier, J; Schalling, M; Buckler, A J; Rogers, A; Haber, D A; Housman, D

1991-08-01

The Wilms' tumor gene WT1 is a recessive oncogene that encodes a putative transcription factor implicated in nephrogenesis during kidney development. In this report we analyze expression of WT1 in the murine urogenital system. WT1 is expressed in non-germ-cell components of the testis and ovaries in both young and adult mice. In situ mRNA hybridization studies demonstrate that WT1 is expressed in the granulosa and epithelial cells of ovaries, the Sertoli cells of the testis, and in the uterine wall. In addition to the 3.1-kb WT1 transcript detected by Northern blotting of RNA from kidney, uterus, and gonads, there is an approximately 2.5-kb WT1-related mRNA species in testis. The levels of WT1 mRNA in the gonads are among the highest observed, surpassing amounts detected in the embryonic kidney. During development, these levels are differentially regulated, depending on the sexual differentiation of the gonad. Expression of WT1 mRNA in the female reproductive system does not fluctuate significantly from days 4 to 40 postpartum. In contrast, WT1 mRNA levels in the tesis increase steadily after birth, reaching their highest expression levels at day 8 postpartum and decreasing slightly as the animal matures. Expression of WT1 in the gonads is detectable as early as 12.5 days postcoitum (p.c.). As an initial step toward exploring the tissue-specific expression of WT1, DNA elements upstream of WT1 were cloned and sequenced. Three putative transcription initiation sites, utilized in testis, ovaries, and uterus, were mapped by S1 nuclease protection assays. The sequences surrounding these sites have a high G + C content, and typical upstream CCAAT and TATAA boxes are not present. These studies allowed us to identify the translation initiation site for WT1 protein synthesis. We have also used an epitope-tagging protocol to demonstrate that WT1 is a nuclear protein, consistent with its role as a transcription factor. Our results demonstrate regulation of WT1 expression

Y Choromosomal Microdeletion Screening in The Workup of Male Infertility and Its Current Status in India

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Ramaswamy Suganthi

2014-01-01

Full Text Available Spermatogenesis is an essential stage in human male gamete development, which is regulated by many Y chromosome specific genes. Most of these genes are centred in a specific region located on the long arm of the human Y chromosome known as the azoospermia factor region (AZF. Deletion events are common in Y chromosome because of its peculiar structural organization. Astonishingly, among the several known genetic causes of male infertility, Y chromosomal microdeletions emerged as the most frequent structural chromosome anomaly associated with the quantitative reduction of sperm. The development of assisted reproductive techniques (ART like intra-cytoplasmic sperm injection (ICSI and testicular sperm extraction (TESE helps to bypass the natural barriers of fertilization, but it increases the concern about the transmission of genetic defects. Experimental evidence suggested that the men with Y chromosomal microdeletions vertically transmitted their deletion as well as related fertility disorders to their offspring via these ART techniques. In India, infertility is on alarming rise. ART centres have opened up in virtually every state but still most of the infertility centres in India do not choose to perform Y chromosomal microdeletion diagnosis because of some advanced theoretical reasons. Moreover, there is no consensus among the clinicians about the diagnosis and management of Y chromosomal microdeletion defects. The current review discusses thoroughly the role of Y chromosome microdeletion screening in the workup of male infertility, its significance as a diagnostic test, novel approaches for screening Y deletions and finally a systematic review on the current status of Y chromosome microdeletion deletion screening in India.

Chromosome 22 microdeletion in children with syndromic ...

African Journals Online (AJOL)

Cytogenetic study and fluorescence in situ hybridization (FISH) were performed in the patients. The study revealed that 2 patients were with chromosomal aberrations [one with 46,XY, add (13)(p13) & the other with 47,XX,+13]. In addition, FISH revealed 4 patients (20%) with 22q11.2 microdeletion syndrome. The congenital ...

Constitutional 3p26.3 terminal microdeletion in an adolescent with neuroblastoma.

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Pezzolo, Annalisa; Sementa, Angela Rita; Lerone, Margherita; Morini, Martina; Ognibene, Marzia; Defferrari, Raffaella; Mazzocco, Katia; Conte, Massimo; Gigliotti, Anna Rita; Garaventa, Alberto; Pistoia, Vito; Varesio, Luigi

2017-05-04

Neuroblastoma (NB) is a common and often lethal cancer of early childhood that accounts for 10% of pediatric cancer mortality. Incidence peaks in infancy and then rapidly declines, with less than 5% of cases diagnosed in children and adolescents ≥ 10 y. There is increasing evidence that NB has unique biology and an chronic disease course in older children and adolescents, but ultimately dismal survival. We describe a rare constitutional 3p26.3 terminal microdeletion which occurred in an adolescent with NB, with apparently normal phenotype without neurocognitive defects. We evaluated the association of expression of genes involved in the microdeletion with NB patient outcomes using R2 platform. We screened NB patient's tumor cells for CHL1 protein expression using immunofluorescence. Constitutional and tumor DNA were tested by array-comparative genomic hybridization and single nucleotide-polymorphism-array analyses. Peripheral blood mononuclear cells from the patient showed a 2.54 Mb sub-microscopic constitutional terminal 3p deletion that extended to band p26.3. The microdeletion 3p disrupted the CNTN4 gene and the neighboring CNTN6 and CHL1 genes were hemizygously deleted, each of these genes encode neuronal cell adhesion molecules. Low expression of CNTN6 and CNTN4 genes did not stratify NB patients, whereas low CHL1 expression characterized 417 NB patients having worse overall survival. CHL1 protein expression on tumor cells from the patient was weaker than positive control. This is the first report of a constitutional 3p26.3 deletion in a NB patient. Since larger deletions of 3p, indicative of the presence of one or more tumor suppressor genes in this region, occur frequently in neuroblastoma, our results pave the way to the identification of one putative NB suppressor genes mapping in 3p26.3.

ADAMS/WT advanced development - version 1.4 and beyond

Energy Technology Data Exchange (ETDEWEB)

Elliott, A.S.; Depauw, T.R. [Mechanical Dynamics, Inc., Mesa, AZ (United States)

1996-12-31

ADAMS/WT is an wind-turbine-specific shell for the general-purpose mechanical system simulation package ADAMS5. It was developed under the guidance of the National Renewable Energy Laboratory to give engineers and analysts in the wind turbine community access to the analytical power of ADAMS, without having to become expert in its particular technology. The 1.4 version of ADAMS/WT is the most recent upgrade to the package, incorporating the most up-to-date version of the AeroDyn aerodynamic forcing subroutines from the University of Utah. It is also the first version to be made available on the Windows/NT platform. In version 1.4, ADAMS/WT has been significantly improved throughout and runs much faster. Automatic generation of standardized output has been added. The documentation has been extensively augmented with more detailed descriptions, more figures and more examples. ADAMS/WT remains the most powerful analytical tool available for horizontal-axis wind turbine development. 10 figs.

Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects.

Science.gov (United States)

Lv, Wei; Wang, Shuyu

2014-11-01

Chromosomal abnormalities and the 22q11 microdeletion are implicated in congenital heart defects (CHDs). This study was designed to detect these abnormalities in fetuses and determine the effect of genetic factors on CHD etiology. Between January 2010 and December 2011, 113 fetuses with CHD treated at the Beijing Obstetrics and Gynecology Hospital were investigated, using chromosome karyotyping of either amniotic fluid cell or umbilical cord blood cell samples. Fetuses with a normal result were then investigated for the 22q11 microdeletion by fluorescence in situ hybridization. Of the 113 patients, 12 (10.6%) exhibited chromosomal abnormalities, while 6 (5.3%) of the remaining 101 cases presented with a 22q11 microdeletion. The incidence of chromosomal abnormalities was significantly higher in the group of fetuses presenting with extracardiac malformations in addition to CHD (Pheart defects should also be considered for 22q11 microdeletion detection to evaluate fetal prognosis, particularly prior to surgery.

Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome

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Crutcher, Emeline; Ali, May; Harrison, John; Sovago, Judit; Gomez-Mancilla, Baltazar; Schaaf, Christian P.

2016-01-01

15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We aimed to determine if any or all of three cognitive testing systems (the KiTAP, CogState, and Stanford-Binet) are suitable for assessment of cognitive function in affected individuals. These three tests were administered to ten…

Major Vault Protein, a Candidate Gene in 16p11.2 Microdeletion Syndrome, Is Required for the Homeostatic Regulation of Visual Cortical Plasticity.

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Ip, Jacque P K; Nagakura, Ikue; Petravicz, Jeremy; Li, Keji; Wiemer, Erik A C; Sur, Mriganka

2018-04-18

Microdeletion of a region in chromosome 16p11.2 increases susceptibility to autism. Although this region contains exons of 29 genes, disrupting only a small segment of the region, which spans five genes, is sufficient to cause autistic traits. One candidate gene in this critical segment is MVP , which encodes for the major vault protein (MVP) that has been implicated in regulation of cellular transport mechanisms. MVP expression levels in MVP +/- mice closely phenocopy those of 16p11.2 mutant mice, suggesting that MVP +/- mice may serve as a model of MVP function in 16p11.2 microdeletion. Here we show that MVP regulates the homeostatic component of ocular dominance (OD) plasticity in primary visual cortex. MVP +/- mice of both sexes show impairment in strengthening of open-eye responses after several days of monocular deprivation (MD), whereas closed-eye responses are weakened as normal, resulting in reduced overall OD plasticity. The frequency of miniature EPSCs (mEPSCs) in pyramidal neurons is decreased in MVP +/- mice after extended MD, suggesting a reduction of functional synapses. Correspondingly, upregulation of surface GluA1 AMPA receptors is reduced in MVP +/- mice after extended MD, and is accompanied by altered expression of STAT1 and phosphorylated ERK, which have been previously implicated in OD plasticity. Normalization of STAT1 levels by introducing STAT1 shRNA rescues surface GluA1 and open-eye responses, implicating STAT1 as a downstream effector of MVP. These findings demonstrate a specific role for MVP as a key molecule influencing the homeostatic component of activity-dependent synaptic plasticity, and potentially the corresponding phenotypes of 16p11.2 microdeletion syndrome. SIGNIFICANCE STATEMENT Major vault protein (MVP), a candidate gene in 16p11.2 microdeletion syndrome, has been implicated in the regulation of several cellular processes including transport mechanisms and scaffold signaling. However, its role in brain function and

Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

Science.gov (United States)

Yu, Andrea C; Zambrano, Regina M; Cristian, Ingrid; Price, Sue; Bernhard, Birgitta; Zucker, Marc; Venkateswaran, Sunita; McGowan-Jordan, Jean; Armour, Christine M

2017-06-01

Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows. Additional variable features amongst the patients included microcephaly, metopic ridging or craniosynostosis, cleft palate, cardiac defects, and mild hypotonia. Although the patients' deletions varied in size, there was a 0.47 Mb region of overlap which contained 7 OMIM genes: EIP3B, CHST12, LFNG, BRAT1, TTYH3, AMZ1, and GNA12. We propose that monosomy of this region represents a novel microdeletion syndrome. We recommend that individuals with 7p22.3p22.2 deletions should receive a developmental assessment and a thorough cardiac exam, with consideration of an echocardiogram, as part of their initial evaluation. © 2017 Wiley Periodicals, Inc.

Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion

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Aram Yang

2015-03-01

Full Text Available PurposePrader-Willi syndrome (PWS is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might be related to the pathogenesis of microdeletion in PWS. In this study, we investigated birth seasonality in Korean PWS.MethodsA total of 211 PWS patients born from 1980 to 2014 were diagnosed by methylation polymerase chain reaction at Samsung Medical Center. Of the 211 patients, 138 were born from 2000-2013. Among them, the 74 patients of a deletion group and the 22 patients of a maternal uniparental disomy (UPD group were compared with general populations born from 2000 using the Walter and Elwood method and cosinor analysis.ResultsThere was no statistical significance in seasonal variation in births of the total 211 patients with PWS (χ2=7.2522, P=0.2982. However, a significant difference was found in the monthly variation between PWS with the deletion group and the at-risk general population (P<0.05. In the cosinor model, the peak month of birth for PWS patients in the deletion group was January, while the nadir occurred in July, with statistical significance (amplitude=0.23, phase=1.2, low point=7.2. The UPD group showed the peak birth month in spring; however, this result was not statistically significant (χ2=3.39, P=0.1836.ConclusionCorrelation with birth seasonality was identified in a deletion group of Korean PWS patients. Further studies are required to identify the mechanism related to seasonal effects of environmental factors on microdeletion on chromosome 15.

A method for accurate detection of genomic microdeletions using real-time quantitative PCR

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Bassett Anne S

2005-12-01

Full Text Available Abstract Background Quantitative Polymerase Chain Reaction (qPCR is a well-established method for quantifying levels of gene expression, but has not been routinely applied to the detection of constitutional copy number alterations of human genomic DNA. Microdeletions or microduplications of the human genome are associated with a variety of genetic disorders. Although, clinical laboratories routinely use fluorescence in situ hybridization (FISH to identify such cryptic genomic alterations, there remains a significant number of individuals in which constitutional genomic imbalance is suspected, based on clinical parameters, but cannot be readily detected using current cytogenetic techniques. Results In this study, a novel application for real-time qPCR is presented that can be used to reproducibly detect chromosomal microdeletions and microduplications. This approach was applied to DNA from a series of patient samples and controls to validate genomic copy number alteration at cytoband 22q11. The study group comprised 12 patients with clinical symptoms of chromosome 22q11 deletion syndrome (22q11DS, 1 patient trisomic for 22q11 and 4 normal controls. 6 of the patients (group 1 had known hemizygous deletions, as detected by standard diagnostic FISH, whilst the remaining 6 patients (group 2 were classified as 22q11DS negative using the clinical FISH assay. Screening of the patients and controls with a set of 10 real time qPCR primers, spanning the 22q11.2-deleted region and flanking sequence, confirmed the FISH assay results for all patients with 100% concordance. Moreover, this qPCR enabled a refinement of the region of deletion at 22q11. Analysis of DNA from chromosome 22 trisomic sample demonstrated genomic duplication within 22q11. Conclusion In this paper we present a qPCR approach for the detection of chromosomal microdeletions and microduplications. The strategic use of in silico modelling for qPCR primer design to avoid regions of repetitive

Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion

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Visser, Remco; Shimokawa, Osamu; Harada, Naoki; Kinoshita, Akira; Ohta, Tohru; Niikawa, Norio; Matsumoto, Naomichi

2005-01-01

Sotos syndrome (SoS) is a congenital dysmorphic disorder characterized by overgrowth in childhood, distinctive craniofacial features, and mental retardation. Haploinsufficiency of the NSD1 gene owing to either intragenic mutations or microdeletions is known to be the major cause of SoS. The common ∼2.2-Mb microdeletion encompasses the whole NSD1 gene and neighboring genes and is flanked by low-copy repeats (LCRs). Here, we report the identification of a 3.0-kb major recombination hotspot within these LCRs, in which we mapped deletion breakpoints in 78.7% (37/47) of patients with SoS who carry the common microdeletion. The deletion size was subsequently refined to 1.9 Mb. Sequencing of breakpoint fragments from all 37 patients revealed junctions between a segment of the proximal LCR (PLCR-B) and the corresponding region of the distal LCR (DLCR-2B). PLCR-B and DLCR-2B are the only directly oriented regions, whereas the remaining regions of the PLCR and DLCR are in inverted orientation. The PLCR, with a size of 394.0 kb, and the DLCR, with a size of of 429.8 kb, showed high overall homology (∼98.5%), with an increased sequence similarity (∼99.4%) within the 3.0-kb breakpoint cluster. Several recombination-associated motifs were identified in the hotspot and/or its vicinity. Interestingly, a 10-fold average increase of a translin motif, as compared with the normal distribution within the LCRs, was recognized. Furthermore, a heterozygous inversion of the interval between the LCRs was detected in all fathers of the children carrying a deletion in the paternally derived chromosome. The functional significance of these findings remains to be elucidated. Segmental duplications of the primate genome play a major role in chromosomal evolution. Evolutionary study showed that the duplication of the SoS LCRs occurred 23.3–47.6 million years ago, before the divergence of Old World monkeys. PMID:15580547

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

DEFF Research Database (Denmark)

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

2010-01-01

The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndromes...

Can T1 w/T2 w ratio be used as a myelin-specific measure in subcortical structures? Comparisons between FSE-based T1 w/T2 w ratios, GRASE-based T1 w/T2 w ratios and multi-echo GRASE-based myelin water fractions.

Science.gov (United States)

Uddin, Md Nasir; Figley, Teresa D; Marrie, Ruth Ann; Figley, Chase R

2018-03-01

Given the growing popularity of T 1 -weighted/T 2 -weighted (T 1 w/T 2 w) ratio measurements, the objective of the current study was to evaluate the concordance between T 1 w/T 2 w ratios obtained using conventional fast spin echo (FSE) versus combined gradient and spin echo (GRASE) sequences for T 2 w image acquisition, and to compare the resulting T 1 w/T 2 w ratios with histologically validated myelin water fraction (MWF) measurements in several subcortical brain structures. In order to compare these measurements across a relatively wide range of myelin concentrations, whole-brain T 1 w magnetization prepared rapid acquisition gradient echo (MPRAGE), T 2 w FSE and three-dimensional multi-echo GRASE data were acquired from 10 participants with multiple sclerosis at 3 T. Then, after high-dimensional, non-linear warping, region of interest (ROI) analyses were performed to compare T 1 w/T 2 w ratios and MWF estimates (across participants and brain regions) in 11 bilateral white matter (WM) and four bilateral subcortical grey matter (SGM) structures extracted from the JHU_MNI_SS 'Eve' atlas. Although the GRASE sequence systematically underestimated T 1 w/T 2 w values compared to the FSE sequence (revealed by Bland-Altman and mountain plots), linear regressions across participants and ROIs revealed consistently high correlations between the two methods (r 2 = 0.62 for all ROIs, r 2 = 0.62 for WM structures and r 2 = 0.73 for SGM structures). However, correlations between either FSE-based or GRASE-based T 1 w/T 2 w ratios and MWFs were extremely low in WM structures (FSE-based, r 2 = 0.000020; GRASE-based, r 2 = 0.0014), low across all ROIs (FSE-based, r 2 = 0.053; GRASE-based, r 2 = 0.029) and moderate in SGM structures (FSE-based, r 2 = 0.20; GRASE-based, r 2 = 0.17). Overall, our findings indicated a high degree of correlation (but not equivalence) between FSE-based and GRASE-based T 1 w/T 2 w ratios, and low correlations between T 1 w/T 2 w ratios and MWFs. This

Does Differential Visual Exploration Contribute to Visual Memory Impairments in 22Q11.2 Microdeletion Syndrome?

Science.gov (United States)

Bostelmann, M.; Glaser, B.; Zaharia, A.; Eliez, S.; Schneider, M.

2017-01-01

Background: Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is a genetic syndrome characterised by a unique cognitive profile. Individuals with the syndrome present several non-verbal deficits, including visual memory impairments and atypical exploration of visual information. In this study, we seek to understand how visual attention may…

Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

Science.gov (United States)

Casaccia, Germana; Mobili, Luisa; Braguglia, Annabella; Santoro, Francesco; Bagolan, Pietro

2006-03-01

Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found. Copyright 2006 Wiley-Liss, Inc.

WT1 vaccination in acute myeloid leukemia: new methods of implementing adoptive immunotherapy.

Science.gov (United States)

Rein, Lindsay A M; Chao, Nelson J

2014-03-01

The Wilms tumor 1 (WT1) gene was originally identified as a tumor suppressor gene that, when mutated, would lead to the development of pediatric renal tumors. More recently, it has been determined that WT1 is overexpressed in 90% of patients with acute myeloid leukemia (AML) and is mutated in approximately 10% of AML patients. WT1 plays a role in normal hematopoiesis and, in AML specifically, it has oncogenic function and plays an important role in cellular proliferation and differentiation. The ubiquity of WT1 in leukemia has lead to the development of vaccines aimed at employing the host immune system to mount a T-cell response to a known antigen. In this evaluation, the authors discuss the role of WT1 in normal hematopoiesis as well as in the development of hematologic malignancies. Furthermore, the authors discuss the data supporting the development of WT1 vaccines, and the clinical trials supporting their use in patients with acute leukemia. Several small trials have been conducted which support the safety and efficacy of this therapy, although larger trials are certainly warranted. In the authors' opinion, the WT1 vaccination has potential in terms of its application as an adjuvant therapy for patients with AML who are at high risk of relapse or who have detectable minimal residual disease after initial standard therapy.

Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population.

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Blanka Chylíková

Full Text Available Genetic causes of male infertility are hypothesized to involve multiple types of mutations, from single gene defects to complex chromosome rearrangements. Recently, several recurrent X-chromosome microdeletions (located in subtelomeric region of the long arm were reported to be associated with male infertility in Spanish and Italian males. The aim of our study was to test their prevalence and infertility association in population of men from the Czech Republic.107 males with pathological sperm evaluation resulting in nonobstructive infertility were compared to 131 males with normal fecundity. X-chromosome microdeletions were assessed by +/- PCR with three primer pairs for each region Xcnv64 (Xq27.3, Xcnv67 (Xq28 and Xcnv69 (Xq28. The latter microdeletion was further characterized by amplification across the deleted region, dividing the deletion into three types; A, B and C.We detected presence of isolated Xcnv64 deletion in 3 patients and 14 controls, and Xcnv69 in 3 patients and 6 controls (1 and 1 patient vs.4 and 1 control for types A and B respectively. There was one control with combined Xcnv64 and Xcnv69 type B deletions, and one patient with combination of Xcnv64 and Xcnv69 type C deletions. The frequency of the deletions was thus not higher in patient compared to control group, Xcnv64 was marginally associated with controls (adjusted Fisher´s exact test P = 0.043, Xcnv69 was not associated (P = 0.452. We excluded presence of more extensive rearrangements in two subjects with combined Xcnv64 and Xcnv69 deletions. There was no Xcnv67 deletion in our cohort.In conclusion, the two previously reported X-linked microdeletions (Xcnv64 and Xcnv69 do not seem to confer a significant risk to impaired spermatogenesis in the Czech population. The potential clinical role of the previously reported patient-specific Xcnv67 remains to be determined in a larger study population.

Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications

Energy Technology Data Exchange (ETDEWEB)

Hashimoto, Hideharu; Zhang, Xing; Zheng, Yu; Wilson, Geoffrey G.; Cheng, Xiaodong

2016-09-04

Mutations in human zinc-finger transcription factor WT1 result in abnormal development of the kidneys and genitalia and an array of pediatric problems including nephropathy, blastoma, gonadal dysgenesis and genital discordance. Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retardation). These conditions vary in severity from individual to individual; they can be fatal in early childhood, or relatively benign into adulthood. DDS mutations cluster predominantly in zinc fingers (ZF) 2 and 3 at the C-terminus of WT1, which together with ZF4 determine the sequence-specificity of DNA binding. We examined three DDS associated mutations in ZF2 of human WT1 where the normal glutamine at position 369 is replaced by arginine (Q369R), lysine (Q369K) or histidine (Q369H). These mutations alter the sequence-specificity of ZF2, we find, changing its affinity for certain bases and certain epigenetic forms of cytosine. X-ray crystallography of the DNA binding domains of normal WT1, Q369R and Q369H in complex with preferred sequences revealed the molecular interactions responsible for these affinity changes. DDS is inherited in an autosomal dominant fashion, implying a gain of function by mutant WT1 proteins. This gain, we speculate, might derive from the ability of the mutant proteins to sequester WT1 into unproductive oligomers, or to erroneously bind to variant target sequences.

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

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Adrian Mc Cormack

2014-01-01

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

Influence of Macro-Topography on Damage Tolerance and Fracture Toughness of 0.1 wt % Multi-Layer Graphene/Clay-Epoxy Nanocomposites

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Rasheed Atif

2016-07-01

Full Text Available Influence of topographical features on mechanical properties of 0.1 wt % Multi-Layer Graphene (MLG/clay-epoxy nanocomposites has been studied. Three different compositions were made: (1 0.1 wt % MLG-EP; (2 0.1 wt % clay-EP and (3 0.05 wt % MLG-0.05 wt % clay-EP. The objective of making hybrid nanocomposites was to determine whether synergistic effects are prominent at low weight fraction of 0.1 wt % causing an improvement in mechanical properties. The topographical features studied include waviness (Wa, roughness average (Ra, root mean square value (Rq and maximum roughness height (Rmax or Rz. The Rz of as-cast 0.1 wt % MLG-EP, clay-EP and 0.05 wt % MLG-0.05 wt % clay-EP nanocomposites were 43.52, 48.43 and 41.8 µm respectively. A decrease in Rz values was observed by treating the samples with velvet cloth and abrasive paper 1200P while increased by treating with abrasive papers 320P and 60P. A weight loss of up to 16% was observed in samples after the treatment with the abrasive papers. It was observed that MLG is more effective in improving the mechanical properties of epoxy than nanoclay. In addition, no significant improvement in mechanical properties was observed in hybrid nanocomposites indicating that 0.1 wt % is not sufficient to generate conspicuous synergistic effects.

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

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Bernardo, Pia; Madia, Francesca; Santulli, Lia; Del Gaudio, Luigi; Caccavale, Carmela; Zara, Federico; Traverso, Monica; Cirillo, Mario; Striano, Salvatore; Coppola, Antonietta

2016-08-01

The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with intellectual disabilities and organ abnormalities. We report the clinical, instrumental, cytogenetic and molecular investigations of a boy admitted for epilepsy and intellectual disabilities. We carried out detailed analysis of the clinical phenotype of this patient and investigated the genetic basis by using aCGH. We identified a de novo microdeletion on chromosome 17q21.31, compatible with Koolen-de Vries syndrome. Our case shares some of the typical characteristics of the syndrome already described by other authors: delayed psychomotor development, primarily affecting the expressive language, dysmorphic facial features, and epilepsy. However the clinical outcome was not severe as the intellectual disabilities were moderate with good adaptive and functional behaviour. Epilepsy was easily controlled by a single drug, and he never needed surgery for organ abnormalities. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

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...

Effects of W on microstructure of as-cast 28 wt.%Cr–2.6 wt.%C–(0–10)wt.%W irons

Energy Technology Data Exchange (ETDEWEB)

Imurai, S. [Department of Physics and Materials Science, Chiang Mai University, Chiang Mai 50200 (Thailand); Thanachayanont, C.; Pearce, J.T.H. [National Metal and Materials Technology Center, Pathumthani 12120 (Thailand); Tsuda, K. [Institute of Multidisciplinary Research for Advanced Materials, Tohoku University, Sendai 980-8577 (Japan); Chairuangsri, T., E-mail: tchairuangsri@gmail.com [Department of Industrial Chemistry, Chiang Mai University, Chiang Mai 50200 (Thailand)

2015-01-15

Microstructures of as-cast 28 wt.%Cr–2.6 wt.%C irons containing (0–10)wt.%W with the Cr/C ratio about 10 were studied and related to their hardness. The experimental irons were cast into dry sand molds. Microstructural investigation was performed by light microscopy, X-ray diffractometry, scanning electron microscopy, transmission electron microscopy and energy-dispersive X-ray spectrometry. It was found that the irons with 1 to 10 wt.%W addition was hypereutectic containing large primary M{sub 7}C{sub 3}, whereas the reference iron without W addition was hypoeutectic. The matrix in all irons was austenite, partly transformed to martensite during cooling. The volume fractions of primary M{sub 7}C{sub 3} and the total carbides increased, but that of eutectic carbides decreased with increasing the W content of the irons. W addition promoted the formation of W-rich M{sub 7}C{sub 3}, M{sub 6}C and M{sub 23}C{sub 6}. At about 4 wt.%W, two eutectic carbides including M{sub 7}C{sub 3} and M{sub 6}C were observed together with primary M{sub 7}C{sub 3}. At 10 wt.%W, multiple carbides including primary M{sub 7}C{sub 3}, fish-bone M{sub 23}C{sub 6}, and M{sub 6}C were observed. M{sub x}C where x = 3 or less has not been found due possibly to the high M/C ratio in the studied irons. W distribution to all carbides has been determined increasing from ca. 0.3 to 0.8 in mass fraction as the W content in the irons was increased. W addition led to an increase in Vickers macro-hardness of the irons up to 671 kgf/(mm){sup 2} (HV30/15) obtained from the iron with 10 wt.%W. The formation of primary M{sub 7}C{sub 3} and aggregates of M{sub 6}C and M{sub 23}C{sub 6} were the main reasons for hardness increase, indicating potentially improved wear performance of the as-cast irons with W addition. - Highlights: • W addition at 1 up to 10 wt.%W to Fe–28Cr–2.6C produced “hypereutectic” structure. • W addition promoted the formation of W-rich M{sub 7}C{sub 3}, M{sub 6}C and M

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

DEFF Research Database (Denmark)

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

2010-01-01

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

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

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Chih-Ping Chen

2017-12-01

Conclusion: Haploinsufficiency of FGFRL1 and TACC3 at 4p16.3 can be associated with bilateral cleft lip and palate of WHS facial dysmorphism and short long bones. Prenatal diagnosis of facial cleft with short long bones should raise a suspicion of chromosome microdeletion syndromes.

Effect of Thai saraphi flower extracts on WT1 and BCR/ABL protein ...

African Journals Online (AJOL)

In this study, the cytotoxic effects of crude ethanolic and fractional extracts including hexane, ethyl acetate, and methanol fractions from M. siamensis flowers were investigated in order to determine their effect on WT1 expression in Molt4 and K562 cells and Bcr/Abl expression in K562 cells. Materials and Methods: The ...

Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family.

Science.gov (United States)

Chen, Chih-Ping; Chang, Shuenn-Dyh; Wang, Tzu-Hao; Wang, Liang-Kai; Tsai, Jeng-Daw; Liu, Yu-Peng; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Wang, Wayseen

2013-12-01

This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes. aCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother. Prenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion. Copyright © 2013. Published by Elsevier B.V.

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

Energy Technology Data Exchange (ETDEWEB)

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

2009-05-29

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

High Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions.

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Tianjiao Chu

Full Text Available Our goal was to test the hypothesis that inter-individual genomic copy number variation in control samples is a confounding factor in the non-invasive prenatal detection of fetal microdeletions via the sequence-based analysis of maternal plasma DNA. The database of genomic variants (DGV was used to determine the "Genomic Variants Frequency" (GVF for each 50kb region in the human genome. Whole genome sequencing of fifteen karyotypically normal maternal plasma and six CVS DNA controls samples was performed. The coefficient of variation of relative read counts (cv.RTC for these samples was determined for each 50kb region. Maternal plasma from two pregnancies affected with a chromosome 5p microdeletion was also sequenced, and analyzed using the GCREM algorithm. We found strong correlation between high variance in read counts and GVF amongst controls. Consequently we were unable to confirm the presence of the microdeletion via sequencing of maternal plasma samples obtained from two sequential affected pregnancies. Caution should be exercised when performing NIPT for microdeletions. It is vital to develop our understanding of the factors that impact the sensitivity and specificity of these approaches. In particular, benign copy number variation amongst controls is a major confounder, and their effects should be corrected bioinformatically.

White Matter Fiber-based Analysis of T1w/T2w Ratio Map.

Science.gov (United States)

Chen, Haiwei; Budin, Francois; Noel, Jean; Prieto, Juan Carlos; Gilmore, John; Rasmussen, Jerod; Wadhwa, Pathik D; Entringer, Sonja; Buss, Claudia; Styner, Martin

2017-02-01

To develop, test, evaluate and apply a novel tool for the white matter fiber-based analysis of T1w/T2w ratio maps quantifying myelin content. The cerebral white matter in the human brain develops from a mostly non-myelinated state to a nearly fully mature white matter myelination within the first few years of life. High resolution T1w/T2w ratio maps are believed to be effective in quantitatively estimating myelin content on a voxel-wise basis. We propose the use of a fiber-tract-based analysis of such T1w/T2w ratio data, as it allows us to separate fiber bundles that a common regional analysis imprecisely groups together, and to associate effects to specific tracts rather than large, broad regions. We developed an intuitive, open source tool to facilitate such fiber-based studies of T1w/T2w ratio maps. Via its Graphical User Interface (GUI) the tool is accessible to non-technical users. The framework uses calibrated T1w/T2w ratio maps and a prior fiber atlas as an input to generate profiles of T1w/T2w values. The resulting fiber profiles are used in a statistical analysis that performs along-tract functional statistical analysis. We applied this approach to a preliminary study of early brain development in neonates. We developed an open-source tool for the fiber based analysis of T1w/T2w ratio maps and tested it in a study of brain development.

White matter fiber-based analysis of T1w/T2w ratio map

Science.gov (United States)

Chen, Haiwei; Budin, Francois; Noel, Jean; Prieto, Juan Carlos; Gilmore, John; Rasmussen, Jerod; Wadhwa, Pathik D.; Entringer, Sonja; Buss, Claudia; Styner, Martin

2017-02-01

Purpose: To develop, test, evaluate and apply a novel tool for the white matter fiber-based analysis of T1w/T2w ratio maps quantifying myelin content. Background: The cerebral white matter in the human brain develops from a mostly non-myelinated state to a nearly fully mature white matter myelination within the first few years of life. High resolution T1w/T2w ratio maps are believed to be effective in quantitatively estimating myelin content on a voxel-wise basis. We propose the use of a fiber-tract-based analysis of such T1w/T2w ratio data, as it allows us to separate fiber bundles that a common regional analysis imprecisely groups together, and to associate effects to specific tracts rather than large, broad regions. Methods: We developed an intuitive, open source tool to facilitate such fiber-based studies of T1w/T2w ratio maps. Via its Graphical User Interface (GUI) the tool is accessible to non-technical users. The framework uses calibrated T1w/T2w ratio maps and a prior fiber atlas as an input to generate profiles of T1w/T2w values. The resulting fiber profiles are used in a statistical analysis that performs along-tract functional statistical analysis. We applied this approach to a preliminary study of early brain development in neonates. Results: We developed an open-source tool for the fiber based analysis of T1w/T2w ratio maps and tested it in a study of brain development.

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

DEFF Research Database (Denmark)

Lund, A.B. Kiholm; Hove, H.D.; Kirchhoff, M.

2008-01-01

A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital abnormalit...

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion

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Pichet Termsarasab

2014-11-01

Full Text Available Background: Four cases of paroxysmal kinesigenic dyskinesia (PKD have been reported in individuals with proximal 16p11.2 microdeletions that include PRRT2. Case Report: We describe a fifth patient with PKD, features of Asperger’s syndrome, and mild language delays. Sanger sequencing of the PRRT2 gene did not identify any mutations implicated in PKD. However, microarray‐based comparative genomic hybridization (aCGH detected a 533.9‐kb deletion on chromosome 16, encompassing over 20 genes and transcripts. Discussion: This case underscores the importance of aCGH testing for individuals with PKD who do not have PRRT2 mutations, particularly when developmental delays, speech problems, intellectual disability, and/or autism spectrum disorder are present.

Prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with severe semen abnormalities and its correlation with successful sperm retrieval

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Mariano Mascarenhas

2016-01-01

Full Text Available AIM: To estimate the prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with azoospermia and severe oligozoospermia and its correlation with successful surgical sperm retrieval. SETTING AND DESIGN: A prospective study in a tertiary level infertility unit. MATERIALS AND METHODS: In a prospective observation study, men with azoospermia and severe oligozoospermia (concentration <5 million/ml attending the infertility center underwent genetic screening. Peripheral blood karyotype was done by Giemsa banding. Y chromosome microdeletion study was performed by a multiplex polymerase chain reaction. RESULTS: The study group consisted of 220 men, 133 of whom had azoospermia and 87 had severe oligozoospermia. Overall, 21/220 (9.5% men had chromosomal abnormalities and 13/220 (5.9% men had Y chromosome microdeletions. Chromosomal abnormalities were seen in 14.3% (19/133 of azoospermic men and Y chromosome microdeletions in 8.3% (11/133. Of the 87 men with severe oligozoospermia, chromosomal abnormalities and Y chromosome microdeletions were each seen in 2.3% (2/87. Testicular sperm aspiration was done in 13 men and was successful in only one, who had a deletion of azoospermia factor c. CONCLUSIONS: Our study found a fairly high prevalence of genetic abnormality in men with severe semen abnormalities and a correlation of genetic abnormalities with surgical sperm retrieval outcomes. These findings support the need for genetic screening of these men prior to embarking on surgical sperm retrieval and assisted reproductive technology intracytoplasmic sperm injection.

Analysis of Y chromosome microdeletions and CFTR gene mutations as genetic markers of infertility in Serbian men

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Dinić Jelena

2007-01-01

Full Text Available Background/Aim. Impaired fertility of a male partner is the main cause of infertility in up to one half of all infertile couples. At the genetic level, male infertility can be caused by chromosome aberrations or gene mutations. The presence and types of Y chromosome microdeletions and cystic fybrosis transmembrane conductance regulator (CFTR gene mutations as genetic cause of male infertility was tested in Serbian men. The aim of this study was to analyze CFTR gene mutations and Y chromosome microdelations as potential causes of male infertility in Serbian patients, as well as to test the hypothesis that CFTR mutations in infertile men are predominantly located in the several last exons of the gene. Methods. This study has encompassed 33 men with oligo- or azoospermia. The screening for Y chromosome microdeletions in the azoospermia factor (AZF region was performed by multiplex PCR analysis. The screening of the CFTR gene was performed by denaturing gradient gel electrophoresis (DGGE method. Results. Deletions on Y chromosome were detected in four patients, predominantly in AZFc region (four of total six deletions. Mutations in the CFTR gene were detected on eight out of 66 analyzed chromosomes of infertile men. The most common mutation was F508del (six of total eight mutations. Conclusion. This study confirmed that both Y chromosome microdeletions and CFTR gene mutations played important role in etiology of male infertility in Serbian infertile men. Genetic testing for Y chromosome microdeletions and CFTR gene mutations has been introduced in routine diagnostics and offered to couples undergoing assisted reproduction techniques. Considering that both the type of Y chromosome microdeletion and the type of CFTR mutation have a prognostic value, it is recommended that AZF and CFTR genotyping should not only be performed in patients with reduced sperm quality before undergoing assisted reproduction, but also for the purpose of preimplantation and

A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report.

Science.gov (United States)

Han, Ji Yoon; Park, Joonhong; Jang, Woori; Chae, Hyojin; Kim, Myungshin; Kim, Yonggoo

2016-07-01

Prader-Willi syndrome (PWS) is a neurobehavioral imprinting disorder, which arises due to an absence of paternally expressed genes within the 15q11.2-q13 region. This occurs via one of the three main genetic mechanisms, as follows: Deletion of the paternally inherited 15q11.2-q13 region, maternal uniparental disomy and imprinting defect. Recent studies have reported an association between imprinting disorders and assisted reproductive technologies (ART). The current study presents a 6-year-old female patient who is a dizygotic twin, in which one was born with de novo microdeletion at 15q11.2-q13.1 following in vitro fertilization. The patient had characteristic facial features including narrow bifrontal diameter, strabismus, downturned mouth, feeding problems and generalized hypotonia during infancy, developmental delay, mental retardation and rapid weight gain. Based upon phenotypic resemblance and the medical records, methylation-specific multiplex ligation-dependent probe amplification and array-based comparative genome hybridization analyses demonstrate type 2 microdeletion between breaking point 2 (BP2) and BP3, which occur from MKRN3 through HERC2 at 15q11.2-q13.1. To the best of our knowledge, the present study is the first to report a PWS case born following ART reported in South Korea. In addition to previous studies, the present study contributes to the consensus regarding genotype-phenotype comparisons in this respect.

Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion

NARCIS (Netherlands)

Little, M. H.; Williamson, K. A.; Mannens, M.; Kelsey, A.; Gosden, C.; Hastie, N. D.; van Heyningen, V.

1993-01-01

The triad of nephropathy, partial gonadal dysgenesis and Wilms' tumour (WT) is known as Denys-Drash syndrome (DDS). The WT predisposition gene WT1, which plays a vital role in both genital and renal development, is known to be mutated in DDS patients. The WT1 mutations in these patients are

Effects of Mo on microstructure of as-cast 28 wt.% Cr–2.6 wt.% C–(0–10) wt.% Mo irons

Energy Technology Data Exchange (ETDEWEB)

Imurai, S. [Department of Physics and Materials Science, Chiang Mai University, Chiang Mai 50200 (Thailand); Thanachayanont, C.; Pearce, J.T.H. [National Metal and Materials Technology Center, Pathumthani 12120 (Thailand); Tsuda, K. [Institute of Multidisciplinary Research for Advanced Materials, Tohoku University, Sendai 980-8577 (Japan); Chairuangsri, T., E-mail: tchairuangsri@gmail.com [Department of Industrial Chemistry, Chiang Mai University, Chiang Mai 50200 (Thailand)

2014-04-01

Microstructures of as-cast 28 wt.% Cr–2.6 wt.% C irons containing (0–10) wt.% Mo with the Cr/C ratio of about 10 were studied and related to hardness. The experimental irons were cast into dry sand molds. Microstructural investigation was performed by light microscopy, X-ray diffractometry, scanning electron microscopy, transmission electron microscopy and energy-dispersive X-ray spectrometry. It was found that the iron with about 10 wt.% Mo was eutectic/peritectic, whereas the others with less Mo content were hypoeutectic. The matrix in all irons was austenite, partly transformed to martensite during cooling. Mo addition promoted the formation of M{sub 23}C{sub 6} and M{sub 6}C. At 1 wt.% Mo, multiple eutectic carbides including M{sub 7}C{sub 3}, M{sub 23}C{sub 6} and M{sub 6}C were observed. M{sub 23}C{sub 6} existed as a transition zone between eutectic M{sub 7}C{sub 3} and M{sub 6}C, indicating a carbide transition as M{sub 7}C{sub 3}(M{sub 2.3}C) → M{sub 23}C{sub 6}(M{sub 3.8}C) → M{sub 6}C. At 6 wt.% Mo, multiple eutectic carbides including M{sub 7}C{sub 3} and M{sub 23}C{sub 6} were observed together with fine cellular/lamellar M{sub 6}C aggregates. In the iron with 10 wt.% Mo, only eutectic/peritectic M{sub 23}C{sub 6} and M{sub 6}C were found without M{sub 7}C{sub 3}. Mo distribution to all carbides has been determined to be increased from ca. 0.4 to 0.7 in mass fraction as the Mo content in the irons was increased. On the other hand, Cr distribution to all carbides is quite constant as ca. 0.6 in mass fraction. Mo addition increased Vickers macro-hardness of the irons from 495 up to 674 HV{sub 30}. High Mo content as solid-solution in the matrix and the formation of M{sub 6}C or M{sub 23}C{sub 6} aggregates were the main reasons for hardness increase, indicating potentially improved wear performance of the irons with Mo addition. - Highlights: • Mo promoted the formation of M{sub 23}C{sub 6} and M{sub 6}C in the irons with Cr/C ratio of about 10

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

DEFF Research Database (Denmark)

Schönewolf-Greulich, Bitten; Ronan, Anne; Ravn, Kristine

2011-01-01

Microdeletion of the 17q23.2 region has very recently been suggested as a new emerging syndrome based on the finding of 8 cases with common phenotypes including mild-to-moderate developmental delay, heart defects, microcephaly, postnatal growth retardation, and hand, foot, and limb abnormalities...

Effect of strain on evolution of dynamic recrystallization in Nb-1 wt%Zr-0.1 wt%C alloy at 1500 and 1600 °C

Energy Technology Data Exchange (ETDEWEB)

Behera, A.N. [Mechanical Metallurgy Division, Bhabha Atomic Research Centre, Mumbai 400085 (India); Homi Bhabha National Institute, Anushakti Nagar, Mumbai 400094 (India); Kapoor, R., E-mail: rkapoor@barc.gov.in [Mechanical Metallurgy Division, Bhabha Atomic Research Centre, Mumbai 400085 (India); Homi Bhabha National Institute, Anushakti Nagar, Mumbai 400094 (India); Paul, B. [Materials Processing & Corrosion Engineering Division, Bhabha Atomic Research Centre, Mumbai 400085 (India); Chakravartty, J.K. [Mechanical Metallurgy Division, Bhabha Atomic Research Centre, Mumbai 400085 (India)

2017-04-15

Uniaxial compression tests were carried out on Nb-1 wt%Zr-0.1 wt%C alloy at temperature of 1500 and 1600 °C and strain rate of 0.1 s{sup −1} to study the evolution of dynamic recrystallization with strain. Electron back scatter diffraction was used to quantify the microstructural evolution. Nb-1Zr-0.1C alloy showed a necklace structure at a strain of 0.9 when deformed at 1500 °C and at strain of 0.6 when deformed at 1600 °C, both at strain rate of 0.1 s{sup −1}. This suggested the occurrence of dynamic recrystallization. At 1500 °C and strain of 0.9 the local average misorientation and the grain orientation spread was low confirming the presence of dynamic recrystallization at this deformation condition. At both 1500 and 1600 °C and all measured strains the recrystallized grains had a strong fiber component of <001>. - Highlights: • Necklace formation of dynamically recrystallized grains occurred at strain of 0.6 and 0.9 for 1500 and 1600 °C, respectively. • Equiaxed microstructures were seen with increase in strain for both 1500 and 1600 °C. • At large strains the predominant recrystallized texture evolved to <001> pole.

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

DEFF Research Database (Denmark)

Almind, Gitte J; Brøndum-Nielsen, Karen; Bangsgaard, Regitze

2009-01-01

, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12) located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had...

Effects of concomitant temozolomide and radiation therapies on WT1-specific T-cells in malignant glioma

International Nuclear Information System (INIS)

Chiba, Yasuyoshi; Hashimoto, Naoya; Tsuboi, Akihiro

2010-01-01

Immunotherapy targeting the Wilms' tumour 1 gene product has been proven safe and effective for treating malignant glioma in a phase II clinical study. Currently, radiation/temozolomide therapy is the standard treatment with only modest benefit. Whether combining radiation/temozolomide therapy with WT1 immunotherapy will have a negating effect on immunotherapy is still controversial because of the significant lymphocytopaenia induced by the former therapy. To address this issue, we investigated the changes in frequency and number of WT1-specific T-cells in patients with malignant gliomas. Twenty-two patients with newly diagnosed malignant glioma who received standard radiation/temozolomide therapy were recruited for the study. Blood samples were collected before treatment and on the sixth week of therapy. The frequencies and numbers of lymphocytes, CD8 + T-cells, WT1-specific T-cells, regulatory T-cells, natural killer cells and natural killer T-cells were measured and analysed using T-tests. Analysis of the frequency of T lymphocytes and its subpopulation showed an increase in regulatory T-cells, but no significant change was noted in the populations of T-cells, WT1-specific T-cells, natural killer (NK) cells and natural killer T (NKT) cells. Reductions in the total numbers of T-cells, WT1-specific T-cells, NK cells and NKT cells were mainly a consequence of the decrease in the total lymphocyte count. Radiation/temozolomide therapy did not significantly affect the frequency of WT1-specific T-cells, suggesting that the combination with WT1 immunotherapy may be possible, although further assessment in the clinical setting is warranted. (author)

Electrochemical corrosion of Pb-1 wt% Sn and Pb-2.5 wt% Sn alloys for lead-acid battery applications

Energy Technology Data Exchange (ETDEWEB)

Osorio, Wislei R.; Peixoto, Leandro C.; Garcia, Amauri [Department of Materials Engineering, State University of Campinas - UNICAMP, PO Box 612, 13083-970 Campinas, SP (Brazil)

2009-12-01

The aim of this study was to compare the electrochemical corrosion behavior of as-cast Pb-1 wt% Sn and Pb-2.5 wt% Sn alloy samples in a 0.5 M H{sub 2}SO{sub 4} solution at 25 C. A water-cooled unidirectional solidification system was used to obtain the as-cast samples. Electrochemical impedance spectroscopy (EIS) diagrams, potentiodynamic polarization curves and an equivalent circuit analysis were used to evaluate the electrochemical corrosion response. It was found that a coarse cellular array has a better electrochemical corrosion resistance than fine cells. The pre-programming of microstructure cell size of Pb-Sn alloys can be used as an alternative way to produce as-cast components of lead-acid batteries with higher corrosion resistance associated with environmental and economical aspects. (author)

Morphoproteomic profiling of the mammalian target of rapamycin (mTOR) signaling pathway in desmoplastic small round cell tumor (EWS/WT1), Ewing's sarcoma (EWS/FLI1) and Wilms' tumor(WT1).

Science.gov (United States)

Subbiah, Vivek; Brown, Robert E; Jiang, Yunyun; Buryanek, Jamie; Hayes-Jordan, Andrea; Kurzrock, Razelle; Anderson, Pete M

2013-01-01

Desmoplastic small round cell tumor (DSRCT) is a rare sarcoma in adolescents and young adults. The hallmark of this disease is a EWS-WT1 translocation resulting from apposition of the Ewing's sarcoma (EWS) gene with the Wilms' tumor (WT1) gene. We performed morphoproteomic profiling of DSRCT (EWS-WT1), Ewing's sarcoma (EWS-FLI1) and Wilms' tumor (WT1) to better understand the signaling pathways for selecting future targeted therapies. This pilot study assessed patients with DSRCT, Wilms' tumor and Ewing's sarcoma. Morphoproteomics and immunohistochemical probes were applied to detect: p-mTOR (Ser2448); p-Akt (Ser473); p-ERK1/2 (Thr202/Tyr204); p-STAT3 (Tyr 705); and cell cycle-related analytes along with their negative controls. In DSRCT the PI3K/Akt/mTOR pathway is constitutively activated by p-Akt (Ser 473) expression in the nuclear compartment of the tumor cells and p-mTOR phosphorylated on Ser 2448, suggesting mTORC2 (rictor+mTOR) as the dominant form. Ewing's sarcoma had upregulated p-Akt and p-mTOR, predominantly mTORC2. In Wilm's tumor, the mTOR pathway is also activated with most tumor cells moderately expressing p-mTOR (Ser 2448) in plasmalemmal and cytoplasmic compartments. This coincides with the constitutive activation of one of the downstream effectors of the mTORC1 signaling pathway, namely p-p70S6K (Thr 389). There was constitutive activation of the Ras/Raf/ERK pathway p-ERK 1/2 (Thr202/Tyr204) expression in the Wilms tumor and metastatic Ewing's sarcoma, but not in the DSRCT. MORPHOPROTEOMIC TUMOR ANALYSES REVEALED CONSTITUTIVE ACTIVATION OF THE MTOR PATHWAY AS EVIDENCED BY: (a) expression of phosphorylated (p)-mTOR, p-p70S6K; (b) mTORC 2 in EWS and DSRCT; (c) ERK signaling was seen in the advanced setting indicating these as resistance pathways to IGF1R related therapies. This is the first morphoproteomic study of such pathways in these rare malignancies and may have potential therapeutic implications. Further study using morphoproteomic

A Novel WT1 Gene Mutation in a Three-Generation Family with Progressive Isolated Focal Segmental Glomerulosclerosis

Science.gov (United States)

Caridi, Gianluca; Malaventura, Cristina; Dagnino, Monica; Leonardi, Emanuela; Artifoni, Lina; Ghiggeri, Gian Marco; Tosatto, Silvio C.E.; Murer, Luisa

2010-01-01

Background and objectives: Wilms tumor-suppressor gene-1 (WT1) plays a key role in kidney development and function. WT1 mutations usually occur in exons 8 and 9 and are associated with Denys-Drash, or in intron 9 and are associated with Frasier syndrome. However, overlapping clinical and molecular features have been reported. Few familial cases have been described, with intrafamilial variability. Sporadic cases of WT1 mutations in isolated diffuse mesangial sclerosis or focal segmental glomerulosclerosis have also been reported. Design, setting, participants, & measurements: Molecular analysis of WT1 exons 8 and 9 was carried out in five members on three generations of a family with late-onset isolated proteinuria. The effect of the detected amino acid substitution on WT1 protein's structure was studied by bioinformatics tools. Results: Three family members reached end-stage renal disease in full adulthood. None had genital abnormalities or Wilms tumor. Histologic analysis in two subjects revealed focal segmental glomerulosclerosis. The novel sequence variant c.1208G>A in WT1 exon 9 was identified in all of the affected members of the family. Conclusions: The lack of Wilms tumor or other related phenotypes suggests the expansion of WT1 gene analysis in patients with focal segmental glomerulosclerosis, regardless of age or presence of typical Denys-Drash or Frasier syndrome clinical features. Structural analysis of the mutated protein revealed that the mutation hampers zinc finger-DNA interactions, impairing target gene transcription. This finding opens up new issues about WT1 function in the maintenance of the complex gene network that regulates normal podocyte function. PMID:20150449

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

Science.gov (United States)

Van Esch, Hilde; Rosser, Elisabeth M; Janssens, Sandra; Van Ingelghem, Ingrid; Loeys, Bart; Menten, Bjorn

2010-10-01

Interstitial deletions of the long arm of chromosome 6 are rare, and most reported cases represent large, cytogenetically detectable deletions. The implementation of array comparative genome hybridisation in the diagnostic work-up of patients presenting with congenital disorders, including developmental delay, has enabled identification of many patients with smaller chromosomal imbalances. In this report, the cases are presented of four patients with a de novo interstitial deletion of chromosome 6q13-14, resulting in a common microdeletion of 3.7 Mb. All presented with developmental delay, mild dysmorphism and signs of lax connective tissue. Interestingly, the common deleted region harbours 16 genes, of which COL12A1 is a good candidate for the connective tissue pathology.

Feasibility of Cancer Immunotherapy with WT1 Peptide Vaccination for Solid and Hematological Malignancies in Children.

Science.gov (United States)

Sawada, Akihisa; Inoue, Masami; Kondo, Osamu; Yamada-Nakata, Kayo; Ishihara, Takashi; Kuwae, Yuko; Nishikawa, Masanori; Ammori, Yasuhiro; Tsuboi, Akihiro; Oji, Yusuke; Koyama-Sato, Maho; Oka, Yoshihiro; Yasui, Masahiro; Sugiyama, Haruo; Kawa, Keisei

2016-02-01

Advances in cancer immunotherapy in the pediatric field are needed in order to improve the prognosis of children with malignancies. We conducted a prospective phase I/II study of WT1 peptide vaccination for children with relapsed or refractory malignancies. The main eligibility criteria were affected tissues or leukemic cells expressing the WT1 gene, and patients (and donors for allogeneic hematopoietic stem cell transplantation) having HLA-A*24:02. Vaccination using the WT1 peptide (CYTWNQMNL), which was modified for higher affinity to this HLA-type molecule with the adjuvant Montanide ISA51, was performed weekly 12 times. Twenty-six patients were enrolled and 13 (50.0%) completed the vaccination 12 times. Evidence for the induction of WT1-specific cytotoxic T-lymphocyte (CTL) responses without severe systemic side effects was obtained. Two out of 12 patients with bulky disease exhibited a transient clinical effect (one mixed response and one stable disease), three out of six patients with minimal residual disease achieved transient molecular remission, and five out of eight patients without a detectable level of the molecular marker, but with a high risk of relapse, had the best outcome of long-term continuous complete remission. WT1 vaccination is a safe immunotherapy and induced WT1-specific CTL responses in children; however, as a single agent, vaccination only provided patients in remission, but with a high risk of relapse, with "long-term benefits" in the context of its use for relapse prevention. WT1 peptide-based treatments in combination with other modalities, such as anti-tumor drugs or immunomodulating agents, need to be planned. © 2015 Wiley Periodicals, Inc.

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

DEFF Research Database (Denmark)

Wohlleber, Eva; Kirchhoff, Eva Maria; Zink, Alexander M

2011-01-01

Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures, sensorineural hearing loss, and relative...

Experimental determination of the H2O + 15 wt% NaCl and H2O + 25 wt% NaCl liquidi to 1.4 GPa

Science.gov (United States)

Valenti, P.; Schmidt, C.

2009-12-01

The binary H2O+NaCl is one of the most important model systems for chloridic fluids in many geologic environments such as the Earth’s crust, upper mantle, and subducting slabs, and is also applicable to extraterrestrial icy planetary bodies (e.g., Manning 2004, Zolensky et al., 1999). The knowledge on phase equilibria and PVTx properties of this system is still fragmentary at high pressures, e.g., very little has been reported on liquidi at compositions Daniel 2008). In this study, we investigated the liquidus of 15 and 25 wt% NaCl solutions at pressures up to 1.4 GPa. The experiments were performed using a hydrothermal diamond-anvil cell (Bassett et al. 1993) modified for Raman spectroscopy and accurate temperature measurements. A quartz chip, halite, and water were loaded into the sample chamber, which also contained a small trapped air bubble (10 vol%) when it was sealed. The actual salinity was then determined from measurement of the vapor-saturated liquidus temperature. The sample chamber was then compressed until the bubble disappeared. After freezing, phase transitions occurring with increasing temperature were observed optically, and the pressure was determined from the frequency shift of the 464 cm-1 Raman line of quartz (Schmidt and Ziemann 2000). The sample chamber was then compressed further, and the experiment was repeated at various bulk densities until a pressure of ~1.4 GPa was attained. At some conditions, Raman spectra were acquired for identification of the phase assemblage. The solution always crystallized to a single phase upon cooling above ~0.15 GPa at 25 wt% NaCl and above ~1 GPa at 15 wt% NaCl. Raman spectra in the OH stretching region indicate that this phase contains or is a NaCl hydrate other than hydrohalite, probably in solid solution with ice. Melting of this phase produced liquid and hydrohalite and/or ice VI. Ice VI was the last solid that dissolved upon heating, between 1100 MPa, 3 °C and 1370 MPa, 17 °C for 15 wt% NaCl and at

Anomalous precipitation hardening in Al-(1 wt%)Cu thin films

NARCIS (Netherlands)

Bergers, L. J. C.; De Hosson, J. Th. M.; Geers, M. G. D.; Hoefnagels, J. P. M.

2018-01-01

This paper concentrates on the precipitation hardening of Al-(1 wt%)Cu thin films. It is shown that in contrast to bulk, the well-known approach of precipitation hardening in confined systems like thin layers and thin films does not operate in the conventional way. This work analyses and discusses

Microstructure and adhesion strength of Sn-9Zn-1.5Ag-xBi (x = 0 wt% and 2 wt%)/Cu after electrochemical polarization in a 3.5 wt% NaCl solution

Energy Technology Data Exchange (ETDEWEB)

Li, W.-L. [Department of Mechanical Engineering, National Kaohsiung University of Applied Sciences, 415 Chien-Kung Road, Kaohsiung 80782, Taiwan (China); Institute of Nanotechnology and Microsystems Engineering, National Cheng Kung University, 1 Ta-Hsueh Road, Tainan 70101, Taiwan (China); Chen, Y.-R.; Chang, K.-M. [Department of Mechanical Engineering, National Kaohsiung University of Applied Sciences, 415 Chien-Kung Road, Kaohsiung 80782, Taiwan (China); Liu, C.-Y.; Hon, M.-H. [Department of Materials Science and Engineering, National Cheng Kung University, 1 Ta-Hsueh Road, Tainan 70101, Taiwan (China); Wang, M.-C. [Faculty of Fragrance and Cosmetics, Kaohsiung Medical University, 100 Shihchuan 1st Road, Kaohsiung 80728, Taiwan (China)], E-mail: mcwang@kmu.edu.tw

2008-08-11

The microstructure and adhesion strength of the Sn-9Zn-1.5Ag-xBi (x = 0 wt% and 2 wt%)/Cu interface after electrochemical polarization have been studied by X-ray diffraction (XRD), scanning electron microscopy (SEM) and pull-off testing. The equilibrium potentials of Sn-9Zn-1.5Ag/Cu and Sn-9Zn-1.5Ag-2Bi/Cu are -1.31 V{sub sce} and -1.22 V{sub sce}, respectively, indicating that Sn-9Zn-1.5Ag-2Bi/Cu has a better corrosion resistance than that of Sn-9Zn-1.5Ag/Cu. The intermetallic compounds of Cu{sub 6}Sn{sub 5}, Cu{sub 5}Zn{sub 8} and Ag{sub 3}Sn are formed at the soldered interface between the Sn-9Zn-1.5Ag-xBi solder alloy and the Cu substrate. The scallop-shaped Cu{sub 6}Sn{sub 5} is close to the Cu substrate and the scallop-shaped Cu{sub 5}Zn{sub 8} is found at the interface in the solder matrix after soldering at 250 deg. C for 10 s. The corrosion products are ZnCl{sub 2}, SnCl{sub 2} and ZnO. On the other hand, pits are also formed on the surface of both solder alloys. The interfacial adhesion strength of the Sn-9Zn-1.5Ag/Cu and Sn-9Zn-1.5Ag-2Bi/Cu decreases from 8.27 {+-} 0.56 MPa and 12.67 {+-} 0.45 MPa to 4.78 {+-} 0.45 MPa and 8.14 {+-} 0.38 MPa, respectively, after electrochemical polarization in a 3.5 wt% NaCl solution. The fracture path of the Sn-9Zn-1.5Ag-2Bi/Cu is along the solder alloy/ZnO and solder/Cu{sub 6}Sn{sub 5} interfaces.

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families

DEFF Research Database (Denmark)

Kashevarova, Anna A; Nazarenko, Lyudmila P; Schultz-Pedersen, Soren

2014-01-01

contain several protein-coding genes and regulatory elements, complicating the understanding of genotype-phenotype correlations. We report two siblings with ID and an unrelated patient with atypical autism who had 3p26.3 microdeletions and one intellectually disabled patient with a 3p26.3 microduplication...

WT1 Is Necessary for the Proliferation and Migration of Cells of Renin Lineage Following Kidney Podocyte Depletion

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Natalya V. Kaverina

2017-10-01

Full Text Available Wilms' tumor suppressor 1 (WT1 plays an important role in cell proliferation and mesenchymal-epithelial balance in normal development and disease. Here, we show that following podocyte depletion in three experimental models, and in patients with focal segmental glomerulosclerosis (FSGS and membranous nephropathy, WT1 increased significantly in cells of renin lineage (CoRL. In an animal model of FSGS in RenWt1fl/fl reporter mice with inducible deletion of WT1 in CoRL, CoRL proliferation and migration to the glomerulus was reduced, and glomerular disease was worse compared with wild-type mice. To become podocytes, CoRL undergo mesenchymal-to-epithelial transformation (MET, typified by reduced staining for mesenchymal markers (MYH11, SM22, αSMA and de novo expression of epithelial markers (E-cadherin and cytokeratin18. Evidence for changes in MET markers was barely detected in RenWt1fl/fl mice. Our results show that following podocyte depletion, WT1 plays essential roles in CoRL proliferation and migration toward an adult podocyte fate.

A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome

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Shujuan Jiang

2014-11-01

Full Text Available Nail patella syndrome (NPS is an autosomal dominant disorder characterized by nail malformations, patellar apoplasia, or patellar hypoplasia. Mutations within the LMX1B gene are found in 85% of families with NPS; thus, this gene has been characterized as the causative gene of NPS. In this study, we identified a heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA in a Chinese family with NPS. The determination of the deletion breakpoints by Illumina genome-wide DNA analysis beadchip showed that the deletion was located in chromosome 9q33.3 and spanned about 0.66 Mb in size. This heterozygous deletion provides strong evidence for haploinsufficiency as the pathogenic mechanism of NPS.

Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation.

Science.gov (United States)

South, Sarah T; Bleyl, Steven B; Carey, John C

2007-09-15

Wolf-Hirschhorn syndrome (WHS) is characterized by growth delay, developmental delay, hypotonia, seizures, feeding difficulties, and characteristic facial features. Deletion of either of two critical regions (WHSCR and WHSCR-2) within chromosome band 4p16.3 has been proposed as necessary for the minimal clinical manifestations of WHS and controversy remains regarding their designation. We describe two patients with novel terminal microdeletions in 4p16.3 who lack the characteristic facial features but do show some of the more nonspecific manifestations of WHS. The first patient had a ring chromosome 4 with an intact 4q subtelomere and a terminal 4p microdeletion of approximately 1.27-1.46 Mb. This deletion was distal to both proposed critical regions. The second patient had a normal karyotype with a terminal 4p microdeletion of approximately 1.78 Mb. This deletion was distal to WHSCR and the breakpoint was near or within the known distal boundary for WHSCR-2. Both patients showed significant postnatal growth delay, mild developmental delays and feeding difficulties. Their facial features were not typical for WHS. The phenotype of the first patient may have been influenced by the presence of a ring chromosome. Seizures were absent in the first patient whereas the second patient had a complex seizure disorder. Characterization of these patients supports the hypothesis that a gene in WHSCR-2, LETM1, plays a direct role in seizure development, and demonstrates that components of the WHS phenotype can be seen with deletions distal to the known boundaries of the two proposed critical regions. These patients also emphasize the difficulty of mapping clinical manifestations common to many aneusomy syndromes. (c) 2007 Wiley-Liss, Inc.

The predominant WT1 isoform (+KTS) encodes a DNA-binding protein targeting the planar cell polarity gene Scribble in renal podocytes.

Science.gov (United States)

Wells, Julie; Rivera, Miguel N; Kim, Woo Jae; Starbuck, Kristen; Haber, Daniel A

2010-07-01

WT1 encodes a tumor suppressor first identified by its inactivation in Wilms' Tumor. Although one WT1 splicing variant encodes a well-characterized zinc finger transcription factor, little is known about the function of the most prevalent WT1 isoform, whose DNA binding domain is disrupted by a three-amino acid (KTS) insertion. Using cells that conditionally express WT1(+KTS), we undertook a genome-wide chromatin immunoprecipitation and cloning analysis to identify candidate WT1(+KTS)-regulated promoters. We identified the planar cell polarity gene Scribble (SCRB) as the first WT1(+KTS) target gene in podocytes of the kidney. WT1 and SCRB expression patterns overlap precisely in developing renal glomeruli of mice, and WT1(+KTS) binds to a 33-nucleotide region within the Scribble promoter in mouse and human cell lines and kidneys. Together, our results support a role for the predominant WT1(+KTS) isoform in transcriptional regulation and suggest a link between the WT1-dependent tumor suppressor pathway and a key component of the planar cell polarity pathway.

The predominant WT1 isoform (+KTS) encodes a DNA binding protein targeting the planar cell polarity gene Scribble in renal podocytes

Science.gov (United States)

Wells, Julie; Rivera, Miguel N.; Kim, Woo Jae; Starbuck, Kristen; Haber, Daniel A.

2010-01-01

WT1 encodes a tumor suppressor, first identified by its inactivation in Wilms Tumor. While one WT1 splicing variant encodes a well-characterized zinc finger transcription factor, little is known about the function of the most prevalent WT1 isoform, whose DNA binding domain is disrupted by a three amino acid (KTS) insertion. Using cells which conditionally express WT1(+KTS), we undertook a genome-wide chromatin immunoprecipitation and cloning (ChIP-cloning) analysis to identify candidate WT1(+KTS) regulated promoters. We identified the planar cell polarity (PCP) gene Scribble (SCRB) as the first WT1(+KTS) target gene in podocytes of the kidney. WT1 and SCRB expression patterns overlap precisely in developing renal glomeruli of mice, and WT1(+KTS) binds to a 33 nucleotide region within the Scribble promoter in both mouse and human cell lines and kidneys. Together, our results support a role for the predominant WT1(+KTS) isoform in transcriptional regulation and suggest a link between the WT1-dependent tumor suppressor pathway and a key component of the planar cell polarity pathway. PMID:20571064

Mechanical Properties of 0.14wt%C – 0.56wt%Mn – 0.13wt%Si ...

African Journals Online (AJOL)

Effect of intercritical heat treatment on 0.14wt%C – 0.56wt%Mn – 0.13wt%Si structural steel has been investigated. Specimens for single quenching and those for double quenching were prepared for intercritical heat treatment. The heat treatment of the experimental steel was based on intercritical annealing in the ferrite + ...

Diagnostic utility of Wilms′ tumour-1 protein (WT-1 immunostaining in paediatric renal tumours

Directory of Open Access Journals (Sweden)

Surbhi Goyal

2016-01-01

Interpretation & conclusions: WT1 helps to differentiate Wilms′ tumour from other paediatric renal tumours. It may help in differentiating the two subgroups of Wilms′ tumour which have distinct molecular pathogenesis and biological behaviour, however, further prospective studies are required for validation of this hypothesis.

The stored energy in processed Cu-0.4 wt.%Cr-0.12 wt.%Zr-0.02 wt.%Si-0.05 wt.%Mg

International Nuclear Information System (INIS)

Li, X.F.; Dong, A.P.; Wang, L.T.; Yu, Z.; Meng, L.

2011-01-01

Research highlights: → The crystal orientation in processed Cu-0.4 wt.%Cr-0.12 wt.%Zr-0.02 wt.%Si-0.05 wt.%Mg is deviating from the as-cast specimens and microstrain of the alloy is gradually increasing as the draw ratio rising before η ≤ 6.7. → The dynamic recovery has taken place as 6.7 texture is formed with the draw ratio rising. Meanwhile, the stored energy also increases with the draw ratio rising and a peak is reached with draw ratio of 6.7. The release of stored energy is primarily due to the decrease of dislocation density. The flow stress estimated from the stored energy has a similar variation trend with the measured data with a stress difference ∼20 to 120 MPa. The main strengthening effect is attributed to dislocation mechanism.

Reduction in WT1 gene expression during early treatment predicts the outcome in patients with acute myeloid leukemia.

Science.gov (United States)

Andersson, Charlotta; Li, Xingru; Lorenz, Fryderyk; Golovleva, Irina; Wahlin, Anders; Li, Aihong

2012-12-01

Wilms tumor gene 1 (WT1) expression has been suggested as an applicable minimal residual disease marker in acute myeloid leukemia (AML). We evaluated the use of this marker in 43 adult AML patients. Quantitative assessment of WT1 gene transcripts was performed using real-time quantitative-polymerase chain reaction assay. Samples from both the peripheral blood and the bone marrow were analyzed at diagnosis and during follow-up. A strong correlation was observed between WT1 normalized with 2 different control genes (β-actin and ABL1, P0.05). A≥1-log reduction in WT1 expression in bone marrow samples taken freedom from relapse (P=0.010) when β-actin was used as control gene. Furthermore, a reduction in WT1 expression by ≥2 logs in peripheral blood samples taken at a later time point significantly correlated with a better outcome for overall survival (P=0.004) and freedom from relapse (P=0.012). This result was achieved when normalizing against both β-actin and ABL1. These results therefore suggest that WT1 gene expression can provide useful information for minimal residual disease detection in adult AML patients and that combined use of control genes can give more informative results.

Modification effect of Ni-38 wt.%Si on Al-12 wt.%Si alloy

International Nuclear Information System (INIS)

Wu Yuying; Liu Xiangfa; Jiang Binggang; Huang Chuanzhen

2009-01-01

Modification effect of Ni-38 wt.%Si on the Al-12 wt.%Si alloy has been studied by differential scanning calorimeter, torsional oscillation viscometer and liquid X-ray diffraction experiments. It is found that there is a modification effect of Ni-38 wt.%Si on Al-12 wt.%Si alloy, i.e. primary Si can precipitate in the microstructure of Al-12 wt.%Si alloy when Ni and Si added in the form of Ni-38 wt.%Si, but not separately. Ni-38 wt.%Si alloy brings 'genetic materials' into the Al-Si melt, which makes the melt to form more ordering structure, promotes the primary Si precipitated. Moreover, the addition of Ni-38 wt.%Si, which decreases the solidification supercooling degree of Al-12 wt.%Si alloy, is identical to the effect of heterogeneous nuclei.

Modification effect of Ni-38 wt.%Si on Al-12 wt.%Si alloy

Energy Technology Data Exchange (ETDEWEB)

Wu Yuying [Key Laboratory of Liquid Structure and Heredity of Materials, Ministry of Education, Shandong University, Ji' nan 250061 (China)], E-mail: wyy532001@163.com; Liu Xiangfa [Key Laboratory of Liquid Structure and Heredity of Materials, Ministry of Education, Shandong University, Ji' nan 250061 (China); Shandong Binzhou Bohai Piston Co., Ltd., Binzhou 256602, Shandong (China); Jiang Binggang [Key Laboratory of Liquid Structure and Heredity of Materials, Ministry of Education, Shandong University, Ji' nan 250061 (China); Huang Chuanzhen [School of Mechanical Engineering, Shandong University, Jinan 250061 (China)

2009-05-27

Modification effect of Ni-38 wt.%Si on the Al-12 wt.%Si alloy has been studied by differential scanning calorimeter, torsional oscillation viscometer and liquid X-ray diffraction experiments. It is found that there is a modification effect of Ni-38 wt.%Si on Al-12 wt.%Si alloy, i.e. primary Si can precipitate in the microstructure of Al-12 wt.%Si alloy when Ni and Si added in the form of Ni-38 wt.%Si, but not separately. Ni-38 wt.%Si alloy brings 'genetic materials' into the Al-Si melt, which makes the melt to form more ordering structure, promotes the primary Si precipitated. Moreover, the addition of Ni-38 wt.%Si, which decreases the solidification supercooling degree of Al-12 wt.%Si alloy, is identical to the effect of heterogeneous nuclei.

Differential evolution of a CXCR4-using HIV-1 strain in CCR5wt/wt and CCR5∆32/∆32 hosts revealed by longitudinal deep sequencing and phylogenetic reconstruction.

Science.gov (United States)

Le, Anh Q; Taylor, Jeremy; Dong, Winnie; McCloskey, Rosemary; Woods, Conan; Danroth, Ryan; Hayashi, Kanna; Milloy, M-J; Poon, Art F Y; Brumme, Zabrina L

2015-12-03

Rare individuals homozygous for a naturally-occurring 32 base pair deletion in the CCR5 gene (CCR5∆32/∆32) are resistant to infection by CCR5-using ("R5") HIV-1 strains but remain susceptible to less common CXCR4-using ("X4") strains. The evolutionary dynamics of X4 infections however, remain incompletely understood. We identified two individuals, one CCR5wt/wt and one CCR5∆32/∆32, within the Vancouver Injection Drug Users Study who were infected with a genetically similar X4 HIV-1 strain. While early-stage plasma viral loads were comparable in the two individuals (~4.5-5 log10 HIV-1 RNA copies/ml), CD4 counts in the CCR5wt/wt individual reached a nadir of 250 cells/mm(3) in the CCR5∆32/∆32 individual. Ancestral phylogenetic reconstructions using longitudinal envelope-V3 deep sequences suggested that both individuals were infected by a single transmitted/founder (T/F) X4 virus that differed at only one V3 site (codon 24). While substantial within-host HIV-1 V3 diversification was observed in plasma and PBMC in both individuals, the CCR5wt/wt individual's HIV-1 population gradually reverted from 100% X4 to ~60% R5 over ~4 years whereas the CCR5∆32/∆32 individual's remained consistently X4. Our observations illuminate early dynamics of X4 HIV-1 infections and underscore the influence of CCR5 genotype on HIV-1 V3 evolution.

Effect of thermo-mechanical processing on microstructure and mechanical properties of U - Nb - Zr alloys: Part 2 - U - 3 wt % Nb - 9 wt % Zr and U - 9 wt% Nb - 3 wt% Zr

Science.gov (United States)

Morais, Nathanael Wagner Sales; Lopes, Denise Adorno; Schön, Cláudio Geraldo

2018-04-01

The present work is the second and final part of an extended investigation on Usbnd Nb - Zr alloys. It investigates the effect of mechanical processing routes on microstructure of alloys U - 3 wt % Nb - 9 wt % Zr and U - 9 wt% Nb - 3 wt% Zr, through X-ray diffraction and scanning electron microscopy, completing the investigation, which started with alloy U - 6 wt% Nb - 6 wt% Zr in part 1. Mechanical properties are determined using microhardness and bending tests and correlated with the developed microstructures. The results show that processing sequence, in particular the inclusion of a 1000 °C heat treatment step, affects significantly the microstructure and mechanical properties of these alloys alloy in different ways. Microstructural characterization shows that both alloys present significant volume fraction of precipitates of a body-centered cubic (BCC) γ-Nb-Zr rich phase in addition the uranium-rich matrix. Bending tests show that sample ductility does not correlate necessarily with hardness and that the key factor appears to be the amount of the γ-Nb-Zr precipitates, which controls the matrix microstructure. Samples with a monoclinic α″ cellular microstructure and/or with the tetragonally-distorted BCC phase (γ0), although not strictly ductile, showed the largest allowed strains-before-break and complete elastic recovery of the broken pieces, pointing out to the macroscopic observation of superelasticity.

A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH

DEFF Research Database (Denmark)

Becher, Naja; Gjørup, Vibike; Christensen, Rikke

2012-01-01

A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH......A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH...

Corrosion behavior of Mg–5Al based magnesium alloy with 1 wt.% Sn, Mn and Zn additions in 3.5 wt.% NaCl solution

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Nguyen Dang Nam

2014-06-01

Full Text Available The corrosion properties of four Mg–5Al alloys with M-alloying elements (tin, manganese and zinc in a 3.5 wt.% NaCl solution were examined using electrochemical tests and surface analyses. The electrochemical results indicated that the addition of 1 wt.% M metal decreased the corrosion rate and hydrogen evolution rate of the Mg–5Al specimens. Moreover, the addition of 1Zn resulted in having the best corrosion resistance due to the interaction of Zn oxide with Mg and Al oxides which acted as a corrosion barrier.

A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.

Science.gov (United States)

Saitsu, Hirotomo; Osaka, Hitoshi; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Doi, Hiroshi; Miyake, Noriko; Matsumoto, Naomichi

2012-05-01

Recent studies have shown that aberrations of CDKL5 in female patients cause early-onset intractable seizures, severe developmental delay or regression, and Rett syndrome-like features. We report on a Japanese girl with early-onset epileptic encephalopathy, hypotonia, developmental regression, and Rett syndrome-like features. The patient showed generalized tonic seizures, and later, massive myoclonus induced by phone and light stimuli. Brain magnetic resonance imaging showed no structural brain anomalies but cerebral atrophy. Electroencephalogram showed frontal dominant diffuse poly spikes and waves. Through copy number analysis by genomic microarray, we found a microdeletion at Xp22.13. A de novo 137-kb deletion, involving exons 5-21 of CDKL5, RS1, and part of PPEF1 gene, was confirmed by quantitative PCR and breakpoint specific PCR analyses. Our report suggests that the clinical features associated with CDKL5 deletions could be implicated in Japanese patients, and that genetic testing of CDKL5, including both sequencing and deletion analyses, should be considered in girls with early-onset epileptic encephalopathy and RTT-like features. Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Hsf-1 affects podocyte markers NPHS1, NPHS2 and WT1 in a transgenic mouse model of TTRVal30Met-related amyloidosis.

Science.gov (United States)

Petrakis, Ioannis; Mavroeidi, Vasiliki; Stylianou, Kostas; Andronikidi, Eva; Lioudaki, Eirini; Perakis, Kostas; Stratigis, Spyridon; Vardaki, Eleftheria; Zafeiri, Maria; Giannakakis, Kostantinos; Plaitakis, Andreas; Amoiridis, George; Saraiva, Maria Joao; Daphnis, Eugene

2013-09-01

Familial amyloid polyneuropathy is characterized by transthyretin (TTR) deposition in various tissues, including the kidneys. While deposition induces organ dysfunction, renal involvement in TTR-related amyloidosis could manifest from proteinuria to end-stage kidney failure. As proteinuria is considered result of glomerular filtration barrier injury we investigated whether TTR deposition affects either glomerular basement membrane (GBM) or podocytes. Immunohistochemistry, immunoblot and gene expression studies for nephrin, podocin and WT1 were run on renal tissue from human-TTRV30M transgenic mice hemizygous or homozygous for heat shock factor one (Hsf-1). Transmission electron microscopy was used for evaluation of podocyte foot process width (PFW) and GBM thickness in Hsf-1 hemizygous mice with or without TTRV30M or amyloid deposition. Glomeruli of hsf-1 hemizygous transgenic mice showed lower nephrin and podocin protein levels but an increased podocyte number when compared to Hsf-1 homozygous transgenic mice. Nephrin, podocin and WT1 gene expression levels were unaffected by the Hsf-1 carrier status. TTRV30M deposition was associated with increased PFW and GBM thickness. Under the effect of Hsf-1 hemizygosity, TTRV30M deposition has deleterious effects on GBM thickness, PFW and slit diaphragm composition, without affecting nephrin and podocin gene expression.

Methylation in the promoter regions of WT1, NKX6-1 and DBC1 genes in cervical cancer tissues of Uygur women in Xinjiang

Directory of Open Access Journals (Sweden)

Dan Wu

Full Text Available Abstract This study aimed to explore: 1 DNA methylation in the promoter regions of Wilms tumor gene 1 (WT1, NK6 transcription factor related locus 1 gene (NKX6-1 and Deleted in bladder cancer 1 (DBC1 gene in cervical cancer tissues of Uygur women in Xinjiang, and 2 the correlation of gene methylation with the infection of HPV16/18 viruses. We detected HPV16/18 infection in 43 normal cervical tissues, 30 cervical intraepithelial neoplasia lesions (CIN and 48 cervical cancer tissues with polymerase chain reaction (PCR method. Methylation in the promoter regions of the WT1, NKX6-1 and DBC1 genes in the above-mentioned tissues was measured by methylation-specific PCR (MSP and cloning sequencing. The expression level of these three genes was measured by real-time PCR (qPCR in 10 methylation-positive cervical cancer tissues and 10 methylation-negative normal cervical tissues. We found that the infection of HPV16 in normal cervical tissues, CIN and cervical cancer tissues was 14.0, 36.7 and 66.7%, respectively. The infection of HPV18 was 0, 6.7 and 10.4%, respectively. The methylation rates of WT1, NKX6-1 and DBC1 genes were 7.0, 11.6 and 23.3% in normal cervical tissues, 36.7, 46.7 and 30.0% in CIN tissues, and 89.6, 77.1 and 85.4% in cervical cancer tissues. Furthermore, WT1, NKX6-1 and DBC1 genes were hypermethylated in the high-grade squamous intraepithelial lesion (CIN2, CIN3 and in the cervical cancer tissues with infection of HPV16/18 (both P< 0.05. The expression of WT1, NKX6-1 and DBC1 was significantly lower in the methylation-positive cervical cancer tissues than in methylation-negative normal cervical tissues. Our findings indicated that methylation in the promoter regions of WT1, NKX6-1 and DBC1 is correlated with cervical cancer tumorigenesis in Uygur women. The infection of HPV16/18 might be correlated with methylation in these genes. Gene inactivation caused by methylation might be related to the incidence and development of cervical

Achados clínicos e genéticos de cinco pacientes com anomalias relacionadas ao gene WT1

OpenAIRE

Andrade, Juliana Gabriel R. de; Guaragna, Mara Sanches; Soardi, Fernanda Caroline; Guerra-Júnior, Gil; Mello, Maricilda Palandi de; Maciel-Guerra, Andréa Trevas

2008-01-01

AIM: To present phenotypic variability of WT1-related disorders. METHODS: Description of clinical and genetic features of five 46,XY patients with WT1 anomalies. RESULTS: Patient 1: newborn with genital ambiguity; he developed Wilms tumor (WT) and chronic renal disease and died at the age of 10 months; the heterozygous 1186G>A mutation compatible with Denys-Drash syndrome was detected in this child. Patients 2 and 3: adolescents with chronic renal disease, primary amenorrhea and hypergonadotr...

Persistent gating deficit and increased sensitivity to NMDA receptor antagonism after puberty in a new mouse model of the human 22q11.2 microdeletion syndrome

DEFF Research Database (Denmark)

Didriksen, Michael; Fejgin, Kim; Nilsson, Simon R O

2016-01-01

BACKGROUND: The hemizygous 22q11.2 microdeletion is a common copy number variant in humans. The deletion confers high risk for neurodevelopmental disorders, including autism and schizophrenia. Up to 41% of deletion carriers experience psychotic symptoms. METHODS: We present a new mouse model (Df...... displayed increased amplitude of loudness-dependent auditory evoked potentials. Prefrontal cortex and dorsal striatal elevations of the dopamine metabolite DOPAC and increased dorsal striatal expression of the AMPA receptor subunit GluR1 was found. The Df(h22q11)/+ mice did not deviate from wild-type mice...

Persistent gating deficit and increased sensitivity to NMDA receptor antagonism after puberty in a new mouse model of the human 22q11.2 microdeletion syndrome

DEFF Research Database (Denmark)

Didriksen, Michael; Fejgin, Kim; Nilsson, Simon R O

2017-01-01

Background: The hemizygous 22q11.2 microdeletion is a common copy number variant in humans. The deletion confers high risk for neurodevelopmental disorders, including autism and schizophrenia. Up to 41% of deletion carriers experience psychotic symptoms. Methods: We present a new mouse model (Df...... displayed increased amplitude of loudness-dependent auditory evoked potentials. Prefrontal cortex and dorsal striatal elevations of the dopamine metabolite DOPAC and increased dorsal striatal expression of the AMPA receptor subunit GluR1 was found. The Df(h22q11)/+ mice did not deviate from wild-type mice...

In 17q21.31 microdeletion syndrome, hypersocial behaviour may be part of the neuropsychological phenotype

NARCIS (Netherlands)

Egger, J.I.M.; Wingbermühle, P.A.M.; Dijkman, M.W.; Verhoeven, W.M.A.

2013-01-01

Objective: The 17q21.31 microdeletion encompasses among others the microtubule associated protein tau (MAPT) gene that is highly expressed in the brain and is involved in several neurodegenerative disorders such as fronto-temporal dementias and progressive supranuclear palsy. It can be postulated

Simultaneous analysis of the expression of 14 genes with individual prognostic value in myelodysplastic syndrome patients at diagnosis: WT1 detection in peripheral blood adversely affects survival.

Science.gov (United States)

Santamaría, Carlos; Ramos, Fernando; Puig, Noemi; Barragán, Eva; de Paz, Raquel; Pedro, Carme; Insunza, Andrés; Tormo, Mar; Del Cañizo, Consuelo; Diez-Campelo, María; Xicoy, Blanca; Salido, Eduardo; Sánchez del Real, Javier; Hernández, Montserrat; Chillón, Carmen; Sanz, Guillermo F; García-Sanz, Ramón; San Miguel, Jesús F; González, Marcos

2012-12-01

Several studies have evaluated the prognostic value of the individual expression of certain genes in patients with myelodysplastic syndromes (MDS). However, none of them includes their simultaneous analysis by quantitative polymerase chain reaction (PCR). We evaluated relative expression levels of 14 molecular markers in 193 peripheral blood samples from untreated MDS patients using real-time PCR. Detectable WT1 expression levels, low TET2, and low IER3 gene expression were the only markers showing in univariate analysis a poor prognostic value for all treatment-free (TFS), progression-free (PFS), and overall survival (OS). In multivariate analysis, molecular parameters associated with a shorter TFS were: WT1 detection (p = 0.014), low TET2 (p = 0.002), and low IER3 expression (p = 0.025). WT1 detection (p = 0.006) and low TET2 (p = 0.006) expression were associated with a shorter PFS when multivariate analysis was carried out by including only molecular markers. Molecular values with an independent value in OS were: WT1 detection (p = 0.003), high EVI1 expression (p = 0.001), and undetectatable p15-CDKN2B (p = 0.037). WT1 expressers were associated with adverse clinical-biological features, high IPSS and WPSS scoring, and unfavorable molecular expression profile. In summary, detectable WT1 expression levels, and low TET2 and low IER3 expression in peripheral blood showed a strong association with adverse prognosis in MDS patients at diagnosis. However, WT1 was the only molecular marker displaying an independent prognostic value in both OS and TFS.

Genetic Factors that Affect Tumorigenesis in NF1

National Research Council Canada - National Science Library

Stephens, Karen

2003-01-01

...) that flank the NF1 gene. We identified recombination hotspots where 69% of NF1 microdeletions occur and developed robust and sensitive assays to detect microdeletions in a patient blood sample...

Genetic Factors that Affect Tumorigenesis in NF1

National Research Council Canada - National Science Library

Stephens, Karen G

2004-01-01

...) that flank the NF1 gene. We identified recombination hotspots where 69% of NF1 microdeletions occur and developed robust and sensitive assays to detect microdeletions in a patient blood sample...

Failure to thrive as presentation in a patient with 22q11.2 microdeletion.

Science.gov (United States)

Bossi, Grazia; Gertosio, Chiara; Meazza, Cristina; Farello, Giovanni; Bozzola, Mauro

2016-02-11

Abnormalities of chromosome 22q11, including deletions and translocations, have been described in association with different birth defects and malformations occurring in many combinations and degrees of severity. We describe the case of an 8 month-old infant with no dysmorphic signs who showed progressive postnatal growth failure and no chronic systemic diseases. We found a 22q11.2 microdeletion, inherited from the mother, suggesting the diagnosis of DiGeorge syndrome. The patient had an isolated growth hormone (GH) deficiency and a significant increase in linear growth during the first and the second year of GH therapy, and a recovery of weight was shown. Sometimes, in infants with growth failure a genetic analysis is strongly suggested, since chromosomal abnormalities may be present.

Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients.

Science.gov (United States)

Segers, H; Kersseboom, R; Alders, M; Pieters, R; Wagner, A; van den Heuvel-Eibrink, M M

2012-11-01

In 9-17% of Wilms tumour patients a predisposing syndrome is present, in particular WT1-associated syndromes and overgrowth syndromes. Constitutional WT1 mutations or epigenetic changes on chromosome 11p15 have also been described in Wilms tumour patients without phenotypic abnormalities. Thus, the absence of phenotypic abnormalities does not exclude the presence of a genetic predisposition, suggesting that more Wilms tumour patients may have a constitutional abnormality. Therefore, we investigated the frequency of constitutional aberrations in combination with phenotype. Clinical genetic assessment, as well as molecular analysis of WT1 and locus 11p15 was offered to a single-centre cohort of 109 childhood Wilms tumour patients. Twelve patients (11%) had a WT1 aberration and eight patients (8%) had an 11p15 aberration. Of the 12 patients with a WT1 aberration, four had WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations and mental retardation), one had Denys-Drash syndrome, four had genitourinary anomalies without other syndromic features and three had bilateral disease with stromal-predominant histology at young age without congenital anomalies. Of the eight patients with an 11p15 aberration, four had Beckwith-Wiedemann syndrome (BWS), two had minor features of BWS and two had no stigmata of BWS or hemihypertrophy. Constitutional WT1 or 11p15 aberrations are frequent in Wilms tumour patients and careful clinical assessment can identify the majority of these patients. Therefore, we would recommend offering clinical genetic counselling to all Wilms tumour patients, as well as molecular analysis to patients with clinical signs of a syndrome or with features that may indicate a constitutional WT1 or 11p15 aberration. Copyright © 2012 Elsevier Ltd. All rights reserved.

Síndrome de microdeleción en la neurofibromatosis tipo- 1: presentación de un caso Microdeletion syndrome in neurofibromatosis type-1: a case report

Directory of Open Access Journals (Sweden)

Miladys Orraca Castillo

2011-12-01

Full Text Available La neurofibromatosis tipo 1 es una enfermedad genética neuroectodérmica, en la que han sido descritas diferentes tipos de mutaciones en el gen NF1, cuyo locus está en el cromosoma 17 y en este mapean miles de genes; algunos de ellos se encuentran en regiones muy próximas al gen de la enfermedad. En este trabajo se revisó la literatura médica sobre el tema y presenta un caso con características clínicas propias del síndrome de microdeleción del gen NF1, constituyendo un caso novedoso para la ciencia médica cubana.Neurofibromatosis type-1 is a neuroectodermic genetic condition, where different types of mutations in NF1 gene have been described. Its locus is located at chromosome-17, thousand ALIGN="JUSTIFY">of genes are mapping, and some of them are found in very near regions of the gene of this disease. Medical literature about the topic was reviewed; a case presenting the exact clinical characteristics of a microdeletion syndrome of NF1 gene is reported, which constitutes a new case to the Cuban medical science.

Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients

NARCIS (Netherlands)

Segers, H.; Kersseboom, R.; Alders, M.; Pieters, R.; Wagner, A.; van den Heuvel-Eibrink, M. M.

2012-01-01

Introduction: In 9-17% of Wilms tumour patients a predisposing syndrome is present, in particular WT1-associated syndromes and overgrowth syndromes. Constitutional WT1 mutations or epigenetic changes on chromosome 11p15 have also been described in Wilms tumour patients without phenotypic

The oncogenic properties of EWS/WT1 of desmoplastic small round cell tumors are unmasked by loss of p53 in murine embryonic fibroblasts

International Nuclear Information System (INIS)

Bandopadhayay, Pratiti; Thomas, David M; Algar, Elizabeth; Ekert, Paul G; Jabbour, Anissa M; Riffkin, Christopher; Salmanidis, Marika; Gordon, Lavinia; Popovski, Dean; Rigby, Lin; Ashley, David M; Watkins, David N

2013-01-01

Desmoplastic small round cell tumor (DSRCT) is characterized by the presence of a fusion protein EWS/WT1, arising from the t (11;22) (p13;q12) translocation. Here we examine the oncogenic properties of two splice variants of EWS/WT1, EWS/WT1-KTS and EWS/WT1 + KTS. We over-expressed both EWS/WT1 variants in murine embryonic fibroblasts (MEFs) of wild-type, p53 +/- and p53 -/- backgrounds and measured effects on cell-proliferation, anchorage-independent growth, clonogenicity after serum withdrawal, and sensitivity to cytotoxic drugs and gamma irradiation in comparison to control cells. We examined gene expression profiles in cells expressing EWS/WT1. Finally we validated our key findings in a small series of DSRCT. Neither isoform of EWS/WT1 was sufficient to transform wild-type MEFs however the oncogenic potential of both was unmasked by p53 loss. Expression of EWS/WT1 in MEFs lacking at least one allele of p53 enhanced cell-proliferation, clonogenic survival and anchorage-independent growth. EWS/WT1 expression in wild-type MEFs conferred resistance to cell-cycle arrest after irradiation and daunorubicin induced apoptosis. We show DSRCT commonly have nuclear localization of p53, and copy-number amplification of MDM2/MDMX. Expression of either isoform of EWS/WT1 induced characteristic mRNA expression profiles. Gene-set enrichment analysis demonstrated enrichment of WNT pathway signatures in MEFs expressing EWS/WT1 + KTS. Wnt-activation was validated in cell lines with over-expression of EWS/WT1 and in DSRCT. In conclusion, we show both isoforms of EWS/WT1 have oncogenic potential in MEFs with loss of p53. In addition we provide the first link between EWS/WT1 and Wnt-pathway signaling. These data provide novel insights into the function of the EWS/WT1 fusion protein which characterize DSRCT

Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.

Science.gov (United States)

Liao, Hsiao-Mei; Niu, Dau-Ming; Chen, Yan-Jang; Fang, Jye-Siung; Chen, Shih-Jen; Chen, Chia-Hsiang

2011-01-01

Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital cataracts, dental anomalies and mental retardation. The disease has been linked to a novel gene termed NHS located at Xp22.13. The majority of pathogenic mutations of the disease include nonsense mutations and small deletions and insertions that lead to truncation of the NHS protein. In this study, we identified a microdeletion of ∼ 0.92 Mb at Xp22.13 detected by array-based comparative genomic hybridization in two brothers presenting congenital cataract, dental anomalies, facial dysmorphisms and mental retardation. The deleted region encompasses the REPS2, NHS, SCML1 and RAI2 genes, and was transmitted from their carrier mother who presented only mild cataract. Our findings are in line with several recent case reports to indicate that genomic rearrangement involving the NHS gene is an important genetic etiology underlying NHS.

A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.

Science.gov (United States)

Hinkes, Bernward; Hilgers, Karl F; Bolz, Hanno J; Goppelt-Struebe, Margarete; Amann, Kerstin; Nagl, Sandra; Bergmann, Carsten; Rascher, Wolfgang; Eckardt, Kai-Uwe; Jacobi, Johannes

2012-05-14

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 kidney transplant failure caused by consuming membranous nephropathy. A 38-year-old female patient had been diagnosed with right kidney aplasia, left kidney dysplasia and significantly impaired renal function during infancy. Aged 16 she had to start hemodialysis. Three years later she received her first kidney transplant. Only then she was diagnosed with MRKH. The kidney transplant was lost due to consuming nephrotic syndrome caused by de novo membranous nephropathy, as was a second kidney transplant years later. In addition, a hyperelasticity syndrome affects the patient with congenital joint laxity, kyphoscoliosis, bilateral hip dysplasia, persistent hypermobility of both elbows, knees and hips. Her clinical picture resembles a combination of traits of a hypermobile and a vascular form of Ehlers-Danlos-Syndrome, but no mutations in the COL3A1 gene was underlying. Instead, array-based comparative genomic hybridisation (CGH) detected a heterozygous 1.43 Mb deletion on chromosome 17q12 encompassing the two renal developmental genes HNF1β and LHX1. Deletions of HNF1β have recently drawn significant attention in pediatric nephrology as an important cause of prenatally hyperechogenic kidneys, renal aplasia and renal hypodysplasia. In contrast, membranous nephropathy represents an often-unaccounted cause of nephrotic syndrome in the adult population. A causative connection between theses two conditions has never been postulated, but is suggestive enough in this case to hypothesize it.

Screening for Y Chromosome Microdeletion in a Nonobstructive Azoospermic Male Patient with Allogeneic Bone Marrow Transplantation from His Sister

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Hakan Gurkan

2010-01-01

Full Text Available Genomic DNA of a patient diagnosed with nonobstructive azoospermia and with the history of allogenic bone marrow transplantation from his sister due to chronic myeloid leukemia was isolated from peripheral blood in order to screen Y chromosome microdeletions. 13 short tagged sites belonging to AZF a, b, and c loci were detected with multiplex polymerase chain reaction technique. Bands were determined in ZFX/ZFY wells, whereas no bands were determined in wells of other STS regions. DNA isolation was done from buccal mucosa smear to obtain genomic DNA from patient's own cells and multiplex polymerase chain reaction technique was performed again. Bands were seen in all wells of 13 STS regions. Y chromosome microdeletion was not detected in the patient. In conclusion, genomic DNA isolation in patients undergoing BMT should be done from patients' own cells.

Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis – a single-centre experience

Directory of Open Access Journals (Sweden)

Agnieszka Bińczak-Kuleta

2015-05-01

Full Text Available The aim of our study was to examine NPHS1, NPHS2, WT1 and LAMB2 mutations, previously reported in two thirds of patients with nephrotic syndrome with onset before the age of one year old. Genomic DNA samples from Polish children (n=33 with Steroid-ResistantNephrotic Syndrome (SRNS due to focal segmental glomerulosclerosis (FSGS, manifesting before the age of 13 years old, underwent retrospective analysis of NPHS1, NPHS2, WT1 (exons 8, 9 and adjacent exon/intron boundaries and LAMB2. No pathogenic NPHS1 or LAMB2 mutations were found in our FSGS cohort. SRNS-causing mutations of NPHS2 and WT1 were detected in 7 of 33 patients (21%, including those with nephrotic syndrome manifesting before one year old: five of seven patients. Four patients had homozygous c.413G>A (p.Arg138Gln NPHS2 mutations; one subject was homozygous for c.868G>A (p.Val290Met NPHS2. A phenotypic female had C>T transition at position +4 of the WT1 intron 9 (c.1432+4C>T splice-donor site, and another phenotypic female was heterozygous for G>A transition at position +5 (c.1432+5G>A. Genotyping revealed a female genotypic gender (46, XX for the first subject and male (46, XY for the latter. In addition, one patient was heterozygous for c.104dup (p.Arg36Profs*34 NPHS2; two patients carried a c.686G>A (p.Arg229Gln NPHS2 non-neutral variant. Results indicate possible clustering of causative NPHS2 mutations in FSGS-proven SRNS with onset before age one year old, and provide additional evidence that patients with childhood steroid-resistant nephrotic syndrome due to focal segmentalglomerulosclerosis should first undergo analysis of NPHS2 coding sequence and WT1 exons 8 and 9 and surrounding exon/intron boundary sequences, followed by gender genotyping.

Increasing TRIGA fuel lifetime with 12 wt.% U TRIGA fuel

Energy Technology Data Exchange (ETDEWEB)

Naughton, W F; Cenko, M J; Levine, S H; Witzig, W F [Pennsylvania State University (United States)

1974-07-01

In-core fuel management studies have been performed for the Penn State Breazeale Reactor (PSBR) wherein 12 wt % U fuel elements are used to replace the standard 8.5 wt % U TRIGA fuel. The core configuration used to develop a calculational model was a 90-element hexagonal array, which is representative of the PSBR core, and consists of five hexagonal rings surrounding a central thimble containing water. The technique employed for refueling the core fully loaded with 8.5 wt % U fuel involves replacing 8.5 wt % U fuel with 12 wt % U fuel using an in-out reloading scheme. A batch reload consists of 6 new 12 wt % U fuel elements. Placing the 12 wt % U fuel in the B ring produces fuel temperatures ({approx}450 {sup o}C) that are well below the 800{sup o}C maximum limitation when the PSBR is operating at its maximum allowed power of 1 Megawatt. The advantages of using new 12 wt % U fuel to replace the burned up 8.5 wt % U fuel in the B ring over refueling strictly with 8.5 wt % U-Zr TRIGA fuel are clearly delineated in Table 1 where cost calculations used the General Atomic pre-1972 prices for TRIGA fuel, i.e., $1500 and $1650 for an 8.5 and 12 wt % U fuel element, respectively. Experimental results obtained to date utilizing the 12 wt % U fuel elements agree with the computed results. (author)

Stabilization effect of Zr and Ti additions on the ageing characteristics of Al-1 wt% Si alloy through a creep study

Energy Technology Data Exchange (ETDEWEB)

Deaf, G.H.; Beshai, M.H.N.; Abd El Khalek, A.M.; Graiss, G. [Ain Shams Univ., Cairo (Egypt). Dept. of Physics; Kenawy, M.A. [Ain Shams Univ., Cairo (Egypt). Womens Coll.

1997-12-31

Al-1 wt% Si and Al-1 wt% Si-0.1 wt% Zr-0.1 wt% Ti alloys were used to trace the effect of Zr and Ti additions on the behaviour of the steady state creep. After solid solution treatment specimens of both alloys were aged at 623, 673, 723 and 773 K and creep tests were performed at room temperature by applying stresses of 60.0, 62.4, 64.7 and 67.1 MPa. The results showed a sound stabilization effect of Zr and Ti on the ageing characteristics of binary Al-1 wt% Si alloy. Values of the applied stress sensitivity parameter, m, obtained were in the range of (20-34) for Al-Si alloy and (14-19) for Al-Si-Zr-Ti alloy. Time to rupture was found to be strongly increased by Zr and Ti additions. The activation energies of the precipitation process involved were found to be 81.9 kJ/mole and 33.7 kJ/mole of the Al-Si and Al-Si-Zr-Ti alloys respectively. (orig.) 17 refs.

A de novo microdeletion in chromosome 8q12.3q13.2: Association with mild intellectual disability and epilepsy?

NARCIS (Netherlands)

Verhoeven, W.M.A.; Egger, J.I.M.; Feenstra, I.; Leeuw, N. de

2012-01-01

Introduction: Whole genome microarray techniques are a primary tool for the etiological assessment in patients with intellectual disabilities. As a result, several novel microdeletions have been demonstrated that could be causatively related to the disorder. Interpretation of array results is

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.

LENUS (Irish Health Repository)

Lynch, Sally Ann

2011-05-01

We report six patients with array deletions encompassing 12q14. Out of a total of 2538 array investigations carried out on children with developmental delay and dysmorphism in three diagnostic testing centres, six positive cases yielded a frequency of 1 in 423 for this deletion syndrome. The deleted region in each of the six cases overlaps significantly with previously reported cases with microdeletions of this region. The chromosomal range of the deletions extends from 12q13.3q15. In the current study, we report overlapping deletions of variable extent and size but primarily comprising chromosomal bands 12q13.3q14.1. Four of the six deletions were confirmed as de novo events. Two cases had deletions that included HMGA2, and both children had significant short stature. Neither case had osteopoikilosis despite both being deleted for LEMD3. Four cases had deletions that ended proximal to HMGA2 and all of these had much better growth. Five cases had congenital heart defects, including two with atrial septal defects, one each with pulmonary stenosis, sub-aortic stenosis and a patent ductus. Four cases had moderate delay, two had severe developmental delay and a further two had a diagnosis of autism. All six cases had significant speech delay with subtle facial dysmorphism.

A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy

Directory of Open Access Journals (Sweden)

Hinkes Bernward

2012-05-01

Full Text Available 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 kidney transplant failure caused by consuming membranous nephropathy. Case presentation A 38-year-old female patient had been diagnosed with right kidney aplasia, left kidney dysplasia and significantly impaired renal function during infancy. Aged 16 she had to start hemodialysis. Three years later she received her first kidney transplant. Only then she was diagnosed with MRKH. The kidney transplant was lost due to consuming nephrotic syndrome caused by de novo membranous nephropathy, as was a second kidney transplant years later. In addition, a hyperelasticity syndrome affects the patient with congenital joint laxity, kyphoscoliosis, bilateral hip dysplasia, persistent hypermobility of both elbows, knees and hips. Her clinical picture resembles a combination of traits of a hypermobile and a vascular form of Ehlers-Danlos-Syndrome, but no mutations in the COL3A1 gene was underlying. Instead, array-based comparative genomic hybridisation (CGH detected a heterozygous 1.43 Mb deletion on chromosome 17q12 encompassing the two renal developmental genes HNF1β and LHX1. Conclusions Deletions of HNF1β have recently drawn significant attention in pediatric nephrology as an important cause of prenatally hyperechogenic kidneys, renal aplasia and renal hypodysplasia. In contrast, membranous nephropathy represents an often-unaccounted cause of nephrotic syndrome in the adult population. A causative connection between theses two conditions has never been postulated, but

Could FISH on buccal smears become a new method of screening in children suspect of HNF1B anomaly?

Science.gov (United States)

Laffargue, Fanny; Bourthoumieu, Sylvie; Bellanné-Chantelot, Christine; Guigonis, Vincent; Yardin, Catherine

2013-02-01

HNF1B gene anomalies include renal development defects associated with cysts and are well known by pediatric nephrologists that ask for molecular analysis of this gene. Two types of genomic rearrangements are reported: mutation and more frequently deletion. Using microsatellites or CGH array the size of the deletion was found to be at least of 1.2 Mb including 15 genes among which HNF1B, leading to the diagnosis of chromosomal microdeletion. Fluorescent In Situ Hybridization (FISH) is a simple routinely performed technique, considered as the referring tool to diagnose microdeletion in genetic practice. We performed interphasic FISH on buccal smears from 6 patients known to have HNF1B deletion to valid our technique and to determine the size of the 17q12 deletion. All the patients were found to present a 17q12 microdeletion. Our results showed that FISH is a rapid, reliable and specific technique to diagnose 17q12 microdeletion and might be performed as non invasive sampling procedure useful in pediatric practice. In conclusion we propose to use interphasic FISH to screen pediatric patients presenting with renal abnormalities possibly linked to HNF1B anomaly. Molecular analysis and MLPA (Multiplex Ligand Probe Analysis) could be performed in cases with normal interphasic FISH to detect a point mutation of the gene or more rarely a single exon deletion. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Transcriptomic characterization of MRI contrast with focus on the T1-w/T2-w ratio in the cerebral cortex.

Science.gov (United States)

Ritchie, Jacob; Pantazatos, Spiro P; French, Leon

2018-07-01

Magnetic resonance (MR) images of the brain are of immense clinical and research utility. At the atomic and subatomic levels, the sources of MR signals are well understood. However, we lack a comprehensive understanding of the macromolecular correlates of MR signal contrast. To address this gap, we used genome-wide measurements to correlate gene expression with MR signal intensity across the cerebral cortex in the Allen Human Brain Atlas (AHBA). We focused on the ratio of T1-weighted and T2-weighted intensities (T1-w/T2-w ratio image), which is considered to be a useful proxy for myelin content. As expected, we found enrichment of positive correlations between myelin-associated genes and the ratio image, supporting its use as a myelin marker. Genome-wide, there was an association with protein mass, with genes coding for heavier proteins expressed in regions with high T1-w/T2-w values. Oligodendrocyte gene markers were strongly correlated with the T1-w/T2-w ratio, but this was not driven by myelin-associated genes. Mitochondrial genes exhibit the strongest relationship, showing higher expression in regions with low T1-w/T2-w ratio. This may be due to the pH gradient in mitochondria as genes up-regulated by pH in the brain were also highly correlated with the ratio. While we corroborate associations with myelin and synaptic plasticity, differences in the T1-w/T2-w ratio across the cortex are more strongly linked to molecule size, oligodendrocyte markers, mitochondria, and pH. We evaluate correlations between AHBA transcriptomic measurements and a group averaged T1-w/T2-w ratio image, showing agreement with in-sample results. Expanding our analysis to the whole brain results in strong positive T1-w/T2-w correlations for immune system, inflammatory disease, and microglia marker genes. Genes with negative correlations were enriched for neuron markers and synaptic plasticity genes. Lastly, our findings are similar when performed on T1-w or inverted T2-w intensities alone

Phase development in a U-7 wt.% Mo vs. Al-7 wt.% Ge diffusion couple

Science.gov (United States)

Perez, E.; Keiser, D. D.; Sohn, Y. H.

2013-10-01

Fuel development for the Reduced Enrichment for Research and Test Reactors (RERTR) program has demonstrated that U-Mo alloys in contact with Al develop interaction regions with phases that have poor irradiation behavior. The addition of Si to the Al has been considered with positive results. In this study, compositional modification is considered by replacing Si with Ge to determine the effect on the phase development in the system. The microstructural and phase development of a diffusion couple of U-7 wt.% Mo in contact with Al-7 wt.% Ge was examined by transmission electron microscopy, scanning electron microscopy and energy dispersive spectroscopy. The interdiffusion zone developed a microstructure that included the cubic-UGe3 phase and amorphous phases. The UGe3 phase was observed with and without Mo and Al solid solution developing a (U,Mo)(Al,Ge)3 phase.

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

Directory of Open Access Journals (Sweden)

Natália Duarte Linhares

Full Text Available Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS, we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients.

Nanostructured Titanium-10 wt% 45S5 Bioglass-Ag Composite Foams for Medical Applications

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Karolina Jurczyk

2015-03-01

Full Text Available The article presents an investigation on the effectiveness of nanostructured titanium-10 wt% 45S5 Bioglass-1 wt% Ag composite foams as a novel class of antibacterial materials for medical applications. The Ti-based composite foams were prepared by the combination of mechanical alloying and a “space-holder” sintering process. In the first step, the Ti-10 wt% 45S5 Bioglass-1 wt% Ag powder synthesized by mechanical alloying and annealing mixed with 1.0 mm diameter of saccharose crystals was finally compacted in the form of pellets. In the next step, the saccharose crystals were dissolved in water, leaving open spaces surrounded by metallic-bioceramic scaffold. The sintering of the scaffold leads to foam formation. It was found that 1:1 Ti-10 wt% 45S5 Bioglass-1 wt% Ag/sugar ratio leads to porosities of about 70% with pore diameter of about 0.3–1.1 mm. The microstructure, corrosion resistance in Ringer’s solution of the produced foams were investigated. The value of the compression strength for the Ti-10 wt% 45S5 Bioglass-1 wt% Ag foam with 70% porosity was 1.5 MPa and the Young’s modulus was 34 MPa. Silver modified Ti-10 wt% 45S5 Bioglass composites possess excellent antibacterial activities against Staphylococcus aureus. Porous Ti-10 wt% 45S5 Bioglass-1 wt% foam could be a possible candidate for medical implants applications.

Clinical report of a 17q12 microdeletion with additionally unreported clinical features.

Science.gov (United States)

Roberts, Jennifer L; Gandomi, Stephanie K; Parra, Melissa; Lu, Ira; Gau, Chia-Ling; Dasouki, Majed; Butler, Merlin G

2014-01-01

Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3 cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400 K array-based comparative genomic hybridization (aCGH) + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband's phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient's unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations.

Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

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Jennifer L. Roberts

2014-01-01

Full Text Available Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3 cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400 K array-based comparative genomic hybridization (aCGH + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband’s phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient’s unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations.

Phase development in a U–7 wt.% Mo vs. Al–7 wt.% Ge diffusion couple

Energy Technology Data Exchange (ETDEWEB)

Perez, E., E-mail: Emmanuel.Perez@inl.gov [Nuclear Fuels and Materials Development, Idaho National Laboratory, Box 1625, Idaho Falls, ID 83415 (United States); Keiser, D.D. [Nuclear Fuels and Materials Development, Idaho National Laboratory, Box 1625, Idaho Falls, ID 83415 (United States); Sohn, Y.H. [Advanced Materials Processing and Analysis Center, and Department of Materials Science and Engineering, University of Central Florida, 4000 Central Florida Blvd., Orlando, FL 32816 (United States)

2013-10-15

Fuel development for the Reduced Enrichment for Research and Test Reactors (RERTR) program has demonstrated that U–Mo alloys in contact with Al develop interaction regions with phases that have poor irradiation behavior. The addition of Si to the Al has been considered with positive results. In this study, compositional modification is considered by replacing Si with Ge to determine the effect on the phase development in the system. The microstructural and phase development of a diffusion couple of U–7 wt.% Mo in contact with Al–7 wt.% Ge was examined by transmission electron microscopy, scanning electron microscopy and energy dispersive spectroscopy. The interdiffusion zone developed a microstructure that included the cubic-UGe{sub 3} phase and amorphous phases. The UGe{sub 3} phase was observed with and without Mo and Al solid solution developing a (U,Mo)(Al,Ge){sub 3} phase.

HNF1B-associated clinical phenotypes: the kidney and beyond.

Science.gov (United States)

Bockenhauer, Detlef; Jaureguiberry, Graciana

2016-05-01

Mutations in HNF1B, the gene encoding hepatocyte nuclear factor 1β are the most commonly identified genetic cause of renal malformations. HNF1B was first identified as a disease gene for diabetes (MODY5) in 1997, and its involvement in renal disease was subsequently noted through clinical observations in pedigrees affected by MODY5. Since then, a whole spectrum of associated phenotypes have been reported, including genital malformations, autism, epilepsy, gout, hypomagnesaemia, primary hyperparathyroidism, liver and intestinal abnormalities and a rare form of kidney cancer. The most commonly identified mutation, in approximately 50 % of patients, is an entire gene deletion occurring in the context of a 17q12 chromosomal microdeletion that also includes several other genes. Some of the associated phenotypes, especially the neurologic ones, appear to occur only in the context of this microdeletion and thus may not be directly linked to HNF1B. Here we review the spectrum of associated phenotypes and discuss potential implications for clinical management.

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.

Science.gov (United States)

Collins, F A; Murphy, D L; Reiss, A L; Sims, K B; Lewis, J G; Freund, L; Karoum, F; Zhu, D; Maumenee, I H; Antonarakis, S E

1992-01-01

Norrie disease is a rare X-linked recessive disorder characterized by blindness from infancy. The gene for Norrie disease has been localized to Xp11.3. More recently, the genes for monoamine oxidase (MAOA, MAOB) have been mapped to the same region. This study evaluates the clinical, biochemical, and neuropsychiatric data in an affected male and 2 obligate heterozygote females from a single family with a submicroscopic deletion involving Norrie disease and MAO genes. The propositus was a profoundly retarded, blind male; he also had neurologic abnormalities including myoclonus and stereotopy-habit disorder. Both obligate carrier females had a normal IQ. The propositus' mother met diagnostic criteria for "chronic hypomania and schizotypal features." The propositus' MAO activity was undetectable and the female heterozygotes had reduced levels comparable to patients receiving MAO inhibiting antidepressants. MAO substrate and metabolite abnormalities were found in the propositus' plasma and CSF. This study indicates that subtle biochemical and possibly neuropsychiatric abnormalities may be detected in some heterozygotes with the microdeletion in Xp11.3 due to loss of the gene product for the MAO genes; this deletion can also explain some of the complex phenotype of this contiguous gene syndrome in the propositus.

On the underlying micromechanisms in time-dependent anelasticity in Al-(1 wt%)Cu thin films

NARCIS (Netherlands)

Bergers, L.I.J.C.; Hoefnagels, J.P.M.; Geers, M.G.D.

2017-01-01

This paper reveals potential micro mechanisms underlying time-dependent anelasticity observed in Al-(1 wt%)Cu thin films. The analyzed deformation mechanisms involve dislocation motion and interaction with solute diffusion, grain boundaries and precipitates. In order to investigate the role of these

3p interstitial deletion including PRICKLE2 in identical twins with autistic features.

Science.gov (United States)

Okumura, Akihisa; Yamamoto, Toshiyuki; Miyajima, Masakazu; Shimojima, Keiko; Kondo, Satoshi; Abe, Shinpei; Ikeno, Mitsuru; Shimizu, Toshiaki

2014-11-01

Microdeletion and microduplication syndromes without characteristic dysmorphic features are difficult to diagnose without chromosomal microarrays. We describe the clinical course and genetic findings of monozygotic twins with intellectual disabilities and autistic features associated with mild facial dysmorphism and microdeletion of chromosome 3p14. The postnatal course of the second twin was complicated by intestinal malrotation, whereas that of the first twin was unremarkable. Both twins had several mild dysmorphic features including upswept frontal hair, low-set posterior rotated ears, arched down-slanting eyebrows, prominent forehead, epicanthic folds, micrognathia, hypertelorism, broad nasal bridge, short philtrum, and camptodactyly of the bilateral fifth fingers. They had autistic features such as poor eye contact and no social smile, stereotyped behaviors, and preference for solitary play. Array comparative genomic hybridization analysis revealed de novo 6.88-Mb deletions of 3p14 (chr3: 60,472,496-67,385,119) involving 17 genes in both twins. The deleted region contained 17 genes, five of which are known or presumed to be related to central nervous system disorders: FEZF2, SYNPR, ATXN7, PRICKLE2, and MAGI1. We consider that PRICKLE2 is the most likely causative gene for the autistic features exhibited by these individuals. Copyright © 2014 Elsevier Inc. All rights reserved.

Effect of compound field on horizontal continuous casting of Al-1wt.%Si alloy

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Zhong-tao Zhang

2015-03-01

Full Text Available A travelling magnetic field, a power ultrasonic field, and a compound field were used separately during the horizontal continuous casting process of Al-1wt.%Si alloy. The samples obtained were characterized using an optical microscope, a scanning electron microscope, a tensile testing machine, and an electron probe microscopic analyzer to test the microstructures, properties, and element distribution of the samples. The results show that the application of a single field can enhance the mechanical properties and reduce the segregation of Si element in Al-1wt.%Si alloy to some extent. The application of a compound field can obtain the best refinement and homogeneity of the Si element in the alloy, leading to the highest increase of tensile strength and elongation among the three applied fields. The mechanism of the action of external fields on the refinement of microstructures and homogeneity of the Si element is discussed and the compound field is considered to be an effective method to achieve high quality Al alloys.

Effect of Ag additions on the β phase formation reaction in the Cu–9 wt.%Al–6 wt.%Mn alloy

Energy Technology Data Exchange (ETDEWEB)

Adorno, A.T., E-mail: atadorno@iq.unesp.br [Departamento de Físico-Química, Instituto de Química, UNESP, Caixa Postal 355, 14801-970 Araraquara, SP (Brazil); Carvalho, T.M. [Departamento de Físico-Química, Instituto de Química, UNESP, Caixa Postal 355, 14801-970 Araraquara, SP (Brazil); Silva, R.A.G. [Departamento de Ciências Exatas e da Terra, UNIFESP, 09972-270 Diadema, SP (Brazil); Santos, C.M.A.; Magdalena, A.G. [Departamento de Físico-Química, Instituto de Química, UNESP, Caixa Postal 355, 14801-970 Araraquara, SP (Brazil)

2015-09-15

Highlights: • The results suggest a multi-step process involving reversible reactions. • Ag solubilizes preferably at the Cu matrix. • Ag additions decrease the activation energy for the process. - Abstract: The influence of 4 and 5 wt.%Ag additions on the kinetics of β [T{sub 7}-(CuMn){sub 3}Al] phase formation reaction in the Cu–9 wt.%Al–6 wt.%Mn alloy was studied using differential scanning calorimetry (DSC), X-ray diffractometry (XRD) and scanning electron microscopy (SEM). The results indicate that the conversion dependence of the activation energy has a descending shape, suggesting a multi-step process involving reversible reactions. The presence of Ag facilitates the formation of the β phase. The results also showed that the Ag precipitates formation includes the dissolution of Mn and Al atoms, thus decreasing the partial fraction of these elements available to react.

BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

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Sandra García-Herrero

2014-01-01

Full Text Available The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF or chorionic villus (CV samples based on BACs-on-Beads (BoBs technology and to compare the results with classical karyotyping by Giemsa banding (G-banding of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

Indolyl aryl sulfones (IASs): development of highly potent NNRTIs active against wt-HIV-1 and clinically relevant drug resistant mutants.

Science.gov (United States)

Silvestri, Romano; Artico, Marino

2005-01-01

Indolyl aryl sulfones (IASs) are a potent class of NNRTIs developed from L-737,126, a lead agent discovered by Merck AG. IAS derivatives are endowed with inhibitory activities against wt HIV-1 in the low nanomolar concentration range. Introduction of two methyl groups at positions 3 and 5 of the phenyl ring of the aryl sulfonyl moiety furnished IAS derivatives such as 5-chloro- or 5-bromo-3-[(3,5-dimethylphenyl)sulfonyl]indole-2-carboxyamide, which showed very potent and selective anti-HIV-1 activity against some mutants carrying NNRTI resistant mutations at positions 103 and 181 of the reverse transcriptase. IAS derivatives bearing 2-hydroxyethylcarboxyamide or 2-hydroxyethylcarboxyhydrazide groups at position 2 of the indole nucleus were more active than L-737,126 against the K103N-Y181C double mutant. A great improvement of antiviral activity against wt HIV-1 and resistant mutants was obtained by coupling 1-3 simple amino acids, such as glycine and alanine, in sequence, with the 3-[(3,5-dimethylphenyl)sulfonyl]-1H-indole-2-carbonyl moiety. The transformation of the chain terminus into amide or hydrazide, produced short peptides with high selectivity and potent activity against wt HIV-1, and the viral mutants Y181C, K103N-Y181C and EFV(R). IAS having two halogen atoms at the indole showed potent inhibitory activity against the Y181C and the EFV(R) resistant mutant strains. In particular, the introduction of a fluorine atom at position 4 of the indole ring notably contributed to improve the antiviral activities against both wt and the related resistant mutants. 5-Nitro-IASs were highly active against wt HIV-1 and exhibited low cytotoxicity. Experimental data highlighted the class IAS derivatives as promising candidates for clinical trials.

Photolysis of rhodamine-WT dye

Science.gov (United States)

Tai, D.Y.; Rathbun, R.E.

1988-01-01

Photolysis of rhodamine-WT dye under natural sunlight conditions was determined by measuring the loss of fluorescence as a function of time. Rate coefficients at 30?? north latitude ranged from 4.77 x 10-2 day-1 for summer to 3.16 x 10-2 day-1 for winter. Experimental coefficients were in good agreement with values calculated using a laboratory-determined value of the quantum yield.

Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.

Science.gov (United States)

Dello Russo, Patrizia; Demori, Eliana; Sechi, Annalisa; Passon, Nadia; Romagno, Daniela; Gnan, Chiara; Zoratti, Raffaele; Damante, Giuseppe

2016-01-01

The small interstitial deletion in the long arm of chromosome 15 causing Prader-Willi/Angelman syndrome is well known, whereas cases that report terminal deletions in 15q in association with the Prader-Willi-like phenotype are very rare. By using GTG-banding analysis, metaphase FISH, MLPA analysis, and genome-wide array CGH, we detected an unbalanced translocation involving a microdeletion of the distal part of 15q and a microduplication of the distal part of 18q. The unbalanced translocation was found in a boy that was referred with clinical suspicion of Prader-Willi syndrome. In the 15q-deleted region, 23 genes have been identified, and 13 of them are included in the OMIM database. Among these, the deleted IGFR1, MEF2A, CHSY1, and TM2D3 genes could contribute to the patient's phenotype. Seven genes are included in the duplicated chromosome segment 18q, but only one (CTDP1) is present in the OMIM database. We suggest that the deleted chromosome segment 15q26.2qter may be responsible for the phenotype of our case and may also be a candidate locus of Prader-Willi-like syndrome. © 2016 S. Karger AG, Basel.

Analysis of aquifer tests conducted in boreholes USW WT-10, UE-25 WT No. 12, and USW SD-7, 1995-96, Yucca Mountain, Nevada

International Nuclear Information System (INIS)

O'Brien, G.M.

1997-01-01

Single-borehole aquifer tests were conducted in three boreholes in the Yucca Mountain area between March 1995 and January 1996 to obtain estimates of borehole specific capacity and aquifer transmissivity. Analysis of aquifer testing in borehole USW SD-7 also resulted in an estimate of reservoir volume. Aquifer-test data were analyzed with the Cooper and Jacob straight-line method, two modified Theis nonequilibrium equation solutions, and a modified reservoir-limit solution. The highest estimates of transmissivity were in borehole USW WT-10, completed in the Topopah Spring Tuff. Mean transmissivity, based on the results of three drawdown tests, was 1,600 meters squared per day. Mean specific capacity in borehole USW WT-10 after 5 hours of pumping was 1,100 meters squared per day, and was estimated to be 740 meters squared per day after 24 hours of pumping. Aquifer testing in borehole UE-25 WT No. 12 appeared to be significantly affected by well losses. A mean transmissivity of 7 meters squared per day was obtained on the basis of analysis of three drawdown tests in borehole UE-25 WT No. 12. Mean specific capacity in borehole UE-25 WT No. 12, after 24 hours of pumping, was 7 meters squared per day. Borehole UE-25 WT No. 12 seemed to be producing water from fractures that could provide only a limited amount of water to the borehole

Partial absence of pleuropericardial membranes in Tbx18- and Wt1-deficient mice.

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Julia Norden

Full Text Available The pleuropericardial membranes are fibro-serous walls that separate the pericardial and pleural cavities and anchor the heart inside the mediastinum. Partial or complete absence of pleuropericardial membranes is a rare human disease, the etiology of which is poorly understood. As an attempt to better understand these defects, we wished to analyze the cellular and molecular mechanisms directing the separation of pericardial and pleural cavities by pleuropericardial membranes in the mouse. We found by histological analyses that both in Tbx18- and Wt1-deficient mice the pleural and pericardial cavities communicate due to a partial absence of the pleuropericardial membranes in the hilus region. We trace these defects to a persisting embryonic connection between these cavities, the pericardioperitoneal canals. Furthermore, we identify mesenchymal ridges in the sinus venosus region that tether the growing pleuropericardial membranes to the hilus of the lung, and thus, close the pericardioperitoneal canals. In Tbx18-deficient embryos these mesenchymal ridges are not established, whereas in Wt1-deficient embryos the final fusion process between these tissues and the body wall does not occur. We suggest that this fusion is an active rather than a passive process, and discuss the interrelation between closure of the pericardioperitoneal canals, lateral release of the pleuropericardial membranes from the lateral body wall, and sinus horn development.

Regulation of HtrA2 on WT1 gene expression under imatinib stimulation and its effects on the cell biology of K562 cells.

Science.gov (United States)

Zhang, Lixia; Li, Yan; Li, Xiaoyan; Zhang, Qing; Qiu, Shaowei; Zhang, Qi; Wang, Min; Xing, Haiyan; Rao, Qing; Tian, Zheng; Tang, Kejing; Wang, Jianxiang; Mi, Yingchang

2017-09-01

The aim of the present study was to investigate the regulation of Wilms Tumor 1 (WT1) by serine protease high-temperature requirement protein A2 (HtrA2), a member of the Htr family, in K562 cells. In addition, the study aimed to observe the effect of this regulation on cell biological functions and its associated mechanisms. Expression of WT1 and HtrA2 mRNA, and proteins following imatinib and the HtrA2 inhibitor 5-[5-(2-nitrophenyl) furfuryl iodine]-1, 3-diphenyl-2-thiobarbituric acid (UCF-101) treatment was detected with reverse transcription-quantitative polymerase chain reaction and western blot analysis. Subsequent to treatment with drugs and UCF-101, the proliferative function of K562 cells was detected using MTT assays, and the rate of apoptosis was detected using Annexin V with propidium iodide flow cytometry in K562 cells. The protein levels in the signaling pathway were analyzed using western blotting following treatment with imatinib and UCF-101. In K562 cells, imatinib treatment activated HtrA2 gene at a transcription level, while the WT1 gene was simultaneously downregulated. Following HtrA2 inhibitor (UCF-101) treatment, the downregulation of WT1 increased gradually. At the protein level, imatinib induced the increase in HtrA2 protein level and concomitantly downregulated WT1 protein level. Subsequent to HtrA2 inhibition by UCF-101, the WT1 protein level decreased temporarily, but eventually increased. Imatinib induced apoptosis in K562 cells, but this effect was attenuated by the HtrA2 inhibitor UCF-101, resulting in the upregulation of the WT1 protein level. However; UCF-101 did not markedly change the proliferation inhibition caused by imatinib. Imatinib activated the p38 mitogen activated protein kinase (p38 MAPK) signaling pathway in K562 cells, and UCF-101 affected the activation of imatinib in the p38 MAPK signaling pathway. Imatinib inhibited the extracellular signal-related kinase (ERK1/2) pathway markedly and persistently, but UCF-101

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

Science.gov (United States)

Thevenon, Julien; Callier, Patrick; Andrieux, Joris; Delobel, Bruno; David, Albert; Sukno, Sylvie; Minot, Delphine; Mosca Anne, Laure; Marle, Nathalie; Sanlaville, Damien; Bonnet, Marlène; Masurel-Paulet, Alice; Levy, Fabienne; Gaunt, Lorraine; Farrell, Sandra; Le Caignec, Cédric; Toutain, Annick; Carmignac, Virginie; Mugneret, Francine; Clayton-Smith, Jill; Thauvin-Robinet, Christel; Faivre, Laurence

2013-01-01

Speech sound disorders are heterogeneous conditions, and sporadic and familial cases have been described. However, monogenic inheritance explains only a small proportion of such disorders, in particular in cases with childhood apraxia of speech (CAS). Deletions of Speech delay was found in all patients, which could be defined as CAS when patients had been evaluated by a speech therapist (5/9 patients). Intellectual deficiency was found in 5/9 patients only, and often associated with psychiatric manifestations of various severity. Two such deletions were inherited from an apparently healthy parent, but reevaluation revealed abnormal speech production at least in childhood, suggesting variable expressivity. The ELKS/ERC1 gene, which encodes for a synaptic factor, is found in the smallest region of overlap. These results reinforce the hypothesis that deletions of the 12p13.33 locus may be responsible for variable phenotypes including CAS associated with neurobehavioural troubles and that the presence of CAS justifies a genetic work-up.

Temperature behavior of 12 wt.% U TRIGA fuel

Energy Technology Data Exchange (ETDEWEB)

Levine, S H; Geisler, G C; Totenbier, R E [Pennsylvania State University (United States)

1974-07-01

Stainless steel clad 12 wt % U TRIGA fuel elements have been used to refuel the Penn State University's Breazeale Reactor (PSBR). When 12 wt % U fuel containing nominally 55 gms of {sup 235}U per fuel element is substituted for the 8.5 wt % U fuel containing nominally 38 gms {sup 235}U, higher fuel temperatures were produced in the 12 wt % U fuel than in the 8.5 wt % U fuel at the same reactor powers. The higher fuel temperature can be related to the higher power densities in the 12 wt % U fuel. The power density is calculated to be 35% higher in the 12 wt % U fuel when 6 of these fuel elements are substituted for 8.5 wt % U fuel in the innermost ring, the B ring. Temperatures have been calculated for the 12 wt % U fuel in the above configuration for both steady state and pulse conditions, assuming a 35% higher fuel density in the 12 wt % U fuel and the results compare favorably with the experimental measurements. This is particularly true when the comparison is made with temperature data taken after exposing the new fuel elements to a series of pulses. These calculations and data will be presented at the meeting. (author)

Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15.

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Artur Brandt

Full Text Available We describe a stromal predominant Wilms tumor with focal anaplasia and a complex, tumor specific chromosome 11 aberration: a homozygous deletion of the entire WT1 gene within a heterozygous 11p13 deletion and an additional region of uniparental disomy (UPD limited to 11p15.5-p15.2 including the IGF2 gene. The tumor carried a heterozygous p.T41A mutation in CTNNB1. Cells established from the tumor carried the same chromosome 11 aberration, but a different, homozygous p.S45Δ CTNNB1 mutation. Uniparental disomy (UPD 3p21.3pter lead to the homozygous CTNNB1 mutation. The tumor cell line was immortalized using the catalytic subunit of human telomerase (hTERT in conjunction with a novel thermolabile mutant (U19dl89-97tsA58 of SV40 large T antigen (LT. This cell line is cytogenetically stable and can be grown indefinitely representing a valuable tool to study the effect of a complete lack of WT1 in tumor cells. The origin/fate of Wilms tumors with WT1 mutations is currently poorly defined. Here we studied the expression of several genes expressed in early kidney development, e.g. FOXD1, PAX3, SIX1, OSR1, OSR2 and MEIS1 and show that these are expressed at similar levels in the parental and the immortalized Wilms10 cells. In addition the limited potential for muscle/ osteogenic/ adipogenic differentiation similar to all other WT1 mutant cell lines is also observed in the Wilms10 tumor cell line and this is retained in the immortalized cells. In summary these Wilms10 cells are a valuable model system for functional studies of WT1 mutant cells.

Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15

Science.gov (United States)

Brandt, Artur; Löhers, Katharina; Beier, Manfred; Leube, Barbara; de Torres, Carmen; Mora, Jaume; Arora, Parineeta; Jat, Parmjit S.; Royer-Pokora, Brigitte

2016-01-01

We describe a stromal predominant Wilms tumor with focal anaplasia and a complex, tumor specific chromosome 11 aberration: a homozygous deletion of the entire WT1 gene within a heterozygous 11p13 deletion and an additional region of uniparental disomy (UPD) limited to 11p15.5-p15.2 including the IGF2 gene. The tumor carried a heterozygous p.T41A mutation in CTNNB1. Cells established from the tumor carried the same chromosome 11 aberration, but a different, homozygous p.S45Δ CTNNB1 mutation. Uniparental disomy (UPD) 3p21.3pter lead to the homozygous CTNNB1 mutation. The tumor cell line was immortalized using the catalytic subunit of human telomerase (hTERT) in conjunction with a novel thermolabile mutant (U19dl89-97tsA58) of SV40 large T antigen (LT). This cell line is cytogenetically stable and can be grown indefinitely representing a valuable tool to study the effect of a complete lack of WT1 in tumor cells. The origin/fate of Wilms tumors with WT1 mutations is currently poorly defined. Here we studied the expression of several genes expressed in early kidney development, e.g. FOXD1, PAX3, SIX1, OSR1, OSR2 and MEIS1 and show that these are expressed at similar levels in the parental and the immortalized Wilms10 cells. In addition the limited potential for muscle/ osteogenic/ adipogenic differentiation similar to all other WT1 mutant cell lines is also observed in the Wilms10 tumor cell line and this is retained in the immortalized cells. In summary these Wilms10 cells are a valuable model system for functional studies of WT1 mutant cells. PMID:27213811

Effect of compound field on horizontal continuous casting of Al-1wt.%Si alloy

OpenAIRE

Zhong-tao Zhang; Hong-yun Yue; Jian Zhang

2015-01-01

A travelling magnetic field, a power ultrasonic field, and a compound field were used separately during the horizontal continuous casting process of Al-1wt.%Si alloy. The samples obtained were characterized using an optical microscope, a scanning electron microscope, a tensile testing machine, and an electron probe microscopic analyzer to test the microstructures, properties, and element distribution of the samples. The results show that the application of a single field can enhance the mecha...

Correlation of Thermal and Microstructural Properties of an Al-0.60wt%Mg-0.25wt%Fe-0.05wt%Cu Alloy Unidirectionally Solidified

Directory of Open Access Journals (Sweden)

Pedro LAMARÃO

2014-09-01

Full Text Available This work aims to study the thermal, mechanical and microstructural properties of an Al-0.60 wt% Mg-0.25 wt% Fe- -0.05 wt% Cu alloy for application as an electrical conductor. The ingots were obtained by unidirectional horizontal casting, and were sectioned in specific positions to the production of test specimens destined to mechanical tests and microstructural characterization. As results, one can observe that it was possible to obtain experimental models of correlation between the average dimple diameters and thermal variables, demonstrating a trend on the formation of smaller fracture dimples where the cooling was more intense. As one can associate smaller dimples with greater ultimate tensile strength, it is important to understand this mechanism. DOI: http://dx.doi.org/10.5755/j01.ms.20.3.5015

Impact of beryllium additions on thermal and mechanical properties of conventionally solidified and melt-spun Al–4.5 wt.%Mn–x wt.%Be (x = 0, 1, 3, 5) alloys

International Nuclear Information System (INIS)

Öz, Turan; Karaköse, Ercan; Keskin, Mustafa

2013-01-01

Highlights: • Thermal and mechanical properties of Al–Mn–Be alloys were investigated. • IQC Al–Mn–Be alloys were synthesized by the CS and MS techniques. • The volume fraction of IQC increases continuously with Be content. • The melting points of the QC i-phase were determined between 652 °C and 675 °C. • The maximum H V and σ values were found to be 124 kg/mm 2 and 458 MPa with the addition of 5% Be. - Abstract: The influence of beryllium (Be) addition on the quasicrystal-forming ability, thermal and mechanical properties of Al–4.5 wt.%Mn–x wt.%Be (x = 0, 1, 3, 5) alloys was investigated in this study. Quasicrystalline Al–Mn–Be alloys were synthesized by the conventionally casting and melt spinning techniques. The microstructures of the samples were characterized by scanning electron microscopy (SEM) and the phase composition was identified by X-ray diffractometry (XRD). The phase transition during the solidification process was studied by differential scanning calorimetry (DSC) and differential thermal analysis (DTA) under an Ar atmosphere. The mechanical properties of the conventionally solidified (CS) and melt-spun (MS) samples were measured by a Vickers micro-hardness indenter and tensile-strength tests. The Al–4.5 wt.%Mn alloy has a hexagonal structure and minor dendritic icosahedral quasicrystalline phase (IQC) precipitates surrounded by an α-Al matrix. Addition of Be into the Al–4.5 wt.%Mn alloy generates intermetallic Be 4 AlMn and IQC phases with the extinction of the hexagonal phase, and the fraction of IQC increases continuously with the increase in Be content. A considerable improvement in microhardness and tensile strength values was observed due to the addition of Be in different percentages into the composition

TEM Characterization and Properties of Cu-1 wt.% TiB2 Nanocomposite Prepared by Rapid Solidification and Subsequent Heat Treatment

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M. Sobhani

2012-12-01

Full Text Available Copper matrix composite reinforced by 1wt.% TiB2 particles was prepared using in situ reaction of Cu-1.4wt.% Ti and Cu-0.7wt.% B by rapid solidification and subsequent heat treatment for 1-20 hrs at 900ºC. High-resolution transmission electron microscopy (HRTEM characterization showed that primary TiB2 particles were formed in liquid copper. Heat treatment of as-solidified samples led to the formation of secondary TiB2 particles via spinodal decomposition of titanium-rich zone inside the grains. Mechanical properties (after 50% reduction in area as well as electrical conductivity of composite were evaluated after heat treatment and were compared with those of pure copper. The results indicated that, due to the formation of secondary TiB2 particles in the matrix, electrical conductivity increased along with hardness up to 10 hrs of heat treatment and reached 65% IACS and 155 HV, respectively. Moreover, the maximum ultimate (i.e. 580 MPa and yield (i.e. 555 MPa strengths of composite were achieved at this time.

Effects of minor Zr and Sr on as-cast microstructure and mechanical properties of Mg-3Ce-1.2Mn-0.9Sc (wt.%) magnesium alloy

International Nuclear Information System (INIS)

Pan Fusheng; Yang Mingbo; Shen Jia; Wu Lu

2011-01-01

Research highlights: → Minor Zr and/or Sr additions can effectively refine the grains of the Mg-3Ce-1.2Mn-0.9Sc alloy. → Minor Zr and/or Sr additions can improve the tensile properties of the Mg-3Ce-1.2Mn-0.9Sc alloy. → Minor Zr and/or Sr additions can improve the creep properties of the Mg-3Ce-1.2Mn-0.9Sc alloy. - Abstract: The effects of minor Zr and Sr on the as-cast microstructure and mechanical properties of the Mg-3Ce-1.2Mn-0.9Sc (wt.%) alloy were investigated by using optical and electron microscopies, differential scanning calorimetry (DSC) analysis, and tensile and creep tests. The results indicate that adding minor Zr and/or Sr to the Mg-3Ce-1.2Mn-0.9Sc alloy does not cause an obvious change in the morphology and distribution of the Mg 12 Ce phase. However, the grains of the Zr and/or Sr-containing alloys are effectively refined. Among the Zr and/or Sr-containing alloys, the grains of the alloy with the addition of 0.5 wt.%Zr + 0.1 wt.%Sr are the finest, followed by the alloys with the additions of 0.5 wt.%Zr and 0.1 wt.%Sr, respectively. In addition, small additions of Zr and/or Sr can improve the tensile and creep properties of the Mg-3Ce-1.2Mn-0.9Sc alloy. Among the Zr and/or Sr-containing alloys, the alloy with the addition of 0.5 wt.%Zr + 0.1 wt.%Sr obtains the optimum tensile and creep properties.

Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities%超声发现胎儿肾脏异常的17q12染色体微缺失综合征三例产前诊断分析

Institute of Scientific and Technical Information of China (English)

蒋宇林; 戚庆炜; 周希亚; 耿芳芳; 白俊杰; 郝娜; 刘俊涛

2017-01-01

目的 通过分析17q12染色体微缺失综合征胎儿的临床资料,探讨该综合征的产前临床表型及产前诊断方法.方法2013年1月至2017年7月于中国医学科学院北京协和医院就诊行产前超声检查发现胎儿结构异常的孕妇7516例,其中超声发现胎儿单侧或双侧肾脏结构异常者655例(8.71%,655/7516).7516例孕妇中行染色体微阵列分析(CMA)技术产前诊断者共1370例,其中3例0.40%(3/7516)孕妇的胎儿诊断为17q12染色体微缺失综合征.3例孕妇及其胎儿均行产前诊断及核型分析,并通过亲代荧光原位杂交技术或CMA进行亲代验证.结果3例孕妇的胎儿均于孕中期超声检查提示"双侧肾脏结构的异常",异常包括肾脏回声增强、多发囊肿及肾盂增宽,其中1例"双侧多发肾囊肿"、2例"双侧肾回声增强".3例胎儿的染色体核型分析均正常,CMA检测提示均存在17q12染色体区域1.4~1.6 Mb的缺失.亲代验证结果显示,3例发生17q12染色体微缺失的胎儿中,2例为新发突变,1例遗传于母亲.经遗传咨询,3例孕妇均选择终止妊娠.结论 根据产前胎儿肾脏超声检查的特异性表现,通过产前诊断、染色体核型分析及CMA检测,可在产前诊断超声发现胎儿肾脏异常的17q12染色体微缺失综合征.少部分17q12染色体微缺失综合征患儿甚至遗传于表型正常的亲代,产前遗传咨询往往会相对困难.%[Abstrcat] Objectives To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting.Methods From January 2013 to July 2017,1 370 women received invasive prenatal diagnosis and chromosome microarray analysis(CMA)in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome.All 3 cases were low-risk pregnancies.Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts,2

Impaired executive function, weak motor skills, and a rare form of epilepsy in an intellectually disabled girl with a 8q12.3q13.2 microdeletion

NARCIS (Netherlands)

Egger, J.I.M.; Verhoeven, W.M.A.; Feenstra, I.; Walvoort, S.J.W.; Leeuw, N. de

2013-01-01

Objective: Whole genome microarray techniques are the primary tool for the etiological assessment in intellectually disabled patients and have led to the discovery of several causative novel microdeletions. Participants and Methods: Extensive neuropsychological, neurological, psychiatric and genetic

A survey of the mechanical properties of uranium alloys U-5Mo-3Nb wt.% and U-3Mo-3Nb wt.%

Energy Technology Data Exchange (ETDEWEB)

Dupont, G.

1969-04-15

In a continuing program on the development of soft and ductile uranium alloys for armament applications, two compositions were studied. These gamma extruded uranium alloys were U-5Mo-3Nb wt.% and U-3Mo-3Nb wt.%. This study was carried out to determine the influence of tempering heat treatments associated with extrusion on the ductility of these uranium alloys. The mechanical properties of both alloys were measured in the extruded condition, in the extruded and annealed condition and in the quenched and tempered condition. A maximum elongation of 13.7% in tension with a low amount of work hardening was obtained for the U-3Mo-3Nb wt.% alloy after 1 1/2 hours anneal at 1200 deg F (650 deg C) followed by a rapid cooling in water at 70 deg F (21 deg C). A maximum elongation of 17.3% with a large amount of work hardening was obtained for alloy U-5Mo-3Nb wt.% after vacuum annealing, normalizing, gamma phase solubilizing at 1500 deg F (815 deg C) and quenching in water at 700 deg F (210 deg C). The maximum ductility achieved in these two alloys by our approaches is low compared with the ductility of Armco Iron employed for the same applications in the field of ballistics.

Hot drawn Fe–6.5 wt.%Si wires with good ductility

International Nuclear Information System (INIS)

Yang, W.; Li, H.; Yang, K.; Liang, Y.F.; Yang, J.; Ye, F.

2014-01-01

Highlights: • Fe–6.5wt%Si steel wire with diameter of 1.6 mm can be successfully obtained by hot drawing process. • The ductility of Fe–6.5wt%Si alloy can be improved significantly when it is fabricated in the form of wire. • The Dc magnetic property of Fe–6.5wt%Si steel wire 1.6 mm in diameter is excellent, which is close to that of 0.3 mm thick cold-rolling sheet. - Abstract: Fe–6.5 wt.%Si high silicon steel wires with a diameter of 1.6 mm are fabricated successfully by hot drawing. The high silicon steel wires show much better ductility than sheets. The tensile strength and elongation of the wires at the room temperature can reach 1.31 GPa and 1.4%, respectively. The tensile strength and elongation of the rolling sheet at the room temperature are 0.8 GPa and 0, respectively. The microstructure analyses show that the elongated grains after drawing and reduced ordering phases by deformation in the wires might contribute to its good ductility. Bs value of 1.437 T and Hc value of 16.96 A/m are obtained for the wire after proper heat treatment for the wires

Analysis of SNP rs16754 of WT1 gene in a series of de novo acute myeloid leukemia patients.

Science.gov (United States)

Luna, Irene; Such, Esperanza; Cervera, Jose; Barragán, Eva; Jiménez-Velasco, Antonio; Dolz, Sandra; Ibáñez, Mariam; Gómez-Seguí, Inés; López-Pavía, María; Llop, Marta; Fuster, Óscar; Oltra, Silvestre; Moscardó, Federico; Martínez-Cuadrón, David; Senent, M Leonor; Gascón, Adriana; Montesinos, Pau; Martín, Guillermo; Bolufer, Pascual; Sanz, Miguel A

2012-12-01

The single nucleotide polymorphism (SNP) rs16754 of the WT1 gene has been previously described as a possible prognostic marker in normal karyotype acute myeloid leukemia (AML) patients. Nevertheless, the findings in this field are not always reproducible in different series. One hundred and seventy-five adult de novo AML patients were screened with two different methods for the detection of SNP rs16754: high-resolution melting (HRM) and FRET hybridization probes. Direct sequencing was used to validate both techniques. The SNP was detected in 52 out of 175 patients (30 %), both by HRM and hybridization probes. Direct sequencing confirmed that every positive sample in the screening methods had a variation in the DNA sequence. Patients with the wild-type genotype (WT1(AA)) for the SNP rs16754 were significantly younger than those with the heterozygous WT1(AG) genotype. No other difference was observed for baseline characteristic or outcome between patients with or without the SNP. Both techniques are equally reliable and reproducible as screening methods for the detection of the SNP rs16754, allowing for the selection of those samples that will need to be sequenced. We were unable to confirm the suggested favorable outcome of SNP rs16754 in de novo AML.

Human Langerhans cells use an IL-15R-α/IL-15/pSTAT5-dependent mechanism to break T-cell tolerance against the self-differentiation tumor antigen WT1.

Science.gov (United States)

Romano, Emanuela; Cotari, Jesse W; Barreira da Silva, Rosa; Betts, Brian C; Chung, David J; Avogadri, Francesca; Fink, Mitsu J; St Angelo, Erin T; Mehrara, Babak; Heller, Glenn; Münz, Christian; Altan-Bonnet, Gregoire; Young, James W

2012-05-31

Human CD34(+) progenitor-derived Langerhans-type dendritic cells (LCs) are more potent stimulators of T-cell immunity against tumor and viral antigens in vitro than are monocyte-derived DCs (moDCs). The exact mechanisms have remained elusive until now, however. LCs synthesize the highest amounts of IL-15R-α mRNA and protein, which binds IL-15 for presentation to responder lymphocytes, thereby signaling the phosphorylation of signal transducer and activator of transcription 5 (pSTAT5). LCs electroporated with Wilms tumor 1 (WT1) mRNA achieve sufficiently sustained presentation of antigenic peptides, which together with IL-15R-α/IL-15, break tolerance against WT1 by stimulating robust autologous, WT1-specific cytolytic T-lymphocytes (CTLs). These CTLs develop from healthy persons after only 7 days' stimulation without exogenous cytokines and lyse MHC-restricted tumor targets, which include primary WT1(+) leukemic blasts. In contrast, moDCs require exogenous rhuIL-15 to phosphorylate STAT5 and attain stimulatory capacity comparable to LCs. LCs therefore provide a more potent costimulatory cytokine milieu for T-cell activation than do moDCs, thus accounting for their superior stimulation of MHC-restricted Ag-specific CTLs without need for exogenous cytokines. These data support the use of mRNA-electroporated LCs, or moDCs supplemented with exogenous rhuIL-15, as vaccines for cancer immunotherapy to break tolerance against self-differentiation antigens shared by tumors.

Reaction layer between U-7WT%Mo and Al alloys in chemical diffusion couples

International Nuclear Information System (INIS)

Mirandou, M.; Granovsky, M.; Ortiz, M.; Balart, S.; Arico, S.; Gribaudo, L.

2005-01-01

Several failures in U-Mo dispersion fuel plates like pillowing and large porosities have been reported during irradiation experiments. These failures have been assigned to the formation of a large (U-Mo)/Al interaction product under high operating conditions. The modification of the matrix by alloying Al to change the interaction layer and improve its irradiation behavior, has been proposed. This paper reports diffusion experiments performed between U-7wt%Mo and various Al alloys containing Mg and / or Si. By the use of Optical Microscopy, SEM and X-Ray diffraction, it was found that with a concentration of 5.2wt% or 7.1 wt%Si the interaction layer is constituted mainly by (U,Mo)(Si,Al) 3 and no (U,Mo)Al 4 is detected. As part of the studies of properties of the U-Mo alloys the time for isothermal transformation start at different temperatures of the γ phase is being evaluated for the present U-7wt%Mo alloy. These results are used to plan the future diffusion program that will include diffusion under irradiation at CNEA RA3 reactor. (author)

Pathologically decreased expression of miR-193a contributes to metastasis by targeting WT1-E-cadherin axis in non-small cell lung cancers

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Junjie Chen

2016-11-01

Full Text Available Abstract Background The metastatic cascade is a complex and multistep process with many potential barriers. Recently, miR-193a has been reported to be a suppressive miRNA in multiple types of cancers, but its underlying anti-oncogenic activity in non-small cell lung cancers (NSCLC is not fully elucidated. Methods The expressions of miR-193a (miR-193a-5p in human lung cancer tissues and cell lines were detected by real-time PCR. Dual-luciferase reporter assay was used to identify the direct target of miR-193a. Cell proliferation, apoptosis, and metastasis were assessed by CCK-8, flow cytometry, and Transwell assay, respectively. Results The expression of miR-193a in lung cancer tissues was decreased comparing to adjacent non-tumor tissues due to DNA hypermethylation in lung cancer tissues. Ectopic expression of miR-193a inhibited cell proliferation, colony formation, migration, and invasion in A549 and H1299 cells. Moreover, overexpression of miR-193a partially reversed tumor growth factor-β1 (TGF-β1-induced epithelial-to-mesenchymal transition (EMT in NSCLC cells. Mechanistically, miR-193a reduced the expression of WT1, which negatively regulated the protein level of E-cadherin, suggesting that miR-193a might prevent EMT via modulating WT1-E-cadherin axis. Importantly, knockdown of WT1 resembled the anti-cancer activity by miR-193a and overexpression of WT1 partially reversed miR-193a-induced anti-cancer activity, indicating that WT1 plays an important role in miR-193a-induced anti-cancer activity. Finally, overexpression of miR-193a decreased the growth of tumor xenografts in mice. Conclusion Collectively, our results have revealed an important role of miR-193a-WT1-E-cadherin axis in metastasis, demonstrated an important molecular cue for EMT, and suggested a therapeutic strategy of restoring miR-193a expression in NSCLC.

TTP SR1-6-WT-31, Milestone C.3-2 annual report on Clemson/INEEL melter work. Revision 1

International Nuclear Information System (INIS)

Bickford, D.F.

1999-01-01

This work is performed in collaboration with RL37WT31-C and ID77WT31-B. During the first two years of radioactive operation of the DWPF process, several areas for improvement in melter design have been identified. The continuing scope of this task is to address performance limitations and deficiencies identified by the user. SRS will design and test several configurations of the melter pour spout and associated equipment to improve consistency of performance and recommend design improvements

TTP SR1-6-WT-31, Milestone C.3-2 annual report on Clemson/INEEL melter work. Revision 1

Energy Technology Data Exchange (ETDEWEB)

Bickford, D.F.

1999-12-17

This work is performed in collaboration with RL37WT31-C and ID77WT31-B. During the first two years of radioactive operation of the DWPF process, several areas for improvement in melter design have been identified. The continuing scope of this task is to address performance limitations and deficiencies identified by the user. SRS will design and test several configurations of the melter pour spout and associated equipment to improve consistency of performance and recommend design improvements.

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

Science.gov (United States)

Kuroda, Yukiko; Saito, Toshiyuki; Nagai, Jun-Ichi; Ida, Kazumi; Naruto, Takuya; Masuno, Mitsuo; Kurosawa, Kenji

2015-02-01

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. Germline point mutations in the serine/threonine kinase 11 (STK11) have been identified in about 70% of patients with PJS. Only a few large genomic deletions have been identified. We report on a girl with PJS and multiple congenital anomalies. She had intellectual disability, umbilical hernia, bilateral inguinal hernias, scoliosis, and distinct facial appearance including prominent mandible, smooth philtrum, and malformed ears. She developed lip pigmentation at the age of 12 years but had no gastrointestinal polyps. Array comparative genomic hybridization revealed an approximately 610 kb deletion at 19p13.3, encompassing STK11. Together with previous reports, the identification of common clinical features suggests that microdeletion at 19p13.3 encompassing STK11 constitutes a distinctive phenotype. © 2014 Wiley Periodicals, Inc.

Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.

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Dalia Kasperavičiūtė

Full Text Available Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained.We describe three patients with common, sporadic, non-syndromic epilepsies in whom large genomic microdeletions were found during a study of genetic susceptibility to epilepsy. We performed detailed gene-driven clinical investigations in each patient. Disruption of the function of genes in the deleted regions can explain co-morbidities in these patients.Co-morbidities in patients with epilepsy can be part of a genomic abnormality even in the absence of (known congenital malformations or intellectual disabilities. Gene-driven phenotype examination can also reveal clinically significant unsuspected condition.

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.

Microstructural morphologies of slag based glass-ceramics nucleated with 5 wt% Cr{sub 2}O{sub 3} and 5 wt% Cr{sub 2}O{sub 3} + 5 wt% TiO{sub 2}

Energy Technology Data Exchange (ETDEWEB)

Oevecoglu, M.L.; Oezkal, B. [Istanbul Technical Univ. (Turkey). Dept. of Metallurgical and Materials Enginering; Catakli, E. [Mimar Sinan Univ., Istanbul (Turkey). Faculty of Science and Literature; Erkmen, Z.E. [Istnabul Univ. (Turkey). Dept. of Metallurgical Engineering

2002-07-01

Glass-ceramic materials were developed from the blast-furnace slags by mixing 5 wt% Cr{sub 2}O{sub 3} and 5 wt% Cr{sub 2}O{sub 3} + 5 wt% TiO{sub 2}. The samples were nucleated for 18 h at 780 C and crystallized for 20 min. at 905 C, respectively. SEM and SEM/EDS investigations revealed the presence of clover-shaped TiO{sub 2} particles in the glassy matrix of the sample nucleated with 5 wt% Cr{sub 2}O{sub 3} + 5 wt% TiO{sub 2} and polygonal-shaped Cr{sub 2}O{sub 3} platelets for both samples. XRD scans revealed the presence of akermanite (2CaO.MgO.2SiO{sub 2}) and gehlenite (2CaO.Al{sub 2}O{sub 3}.SiO{sub 2}) peaks indicating the existence of the mellilite solid solution for the crystallized glass-ceramic samples. (orig.)

Effect of conventional and subzero treating on the mechanical properties of aged martensitic Fe-12 wt.% Ni-X wt.% Mn alloys

International Nuclear Information System (INIS)

Nedjad, S. Hossein; Nili-Ahmadabadi, M.; Mahmudi, R.; Farhangi, H.

2003-01-01

Fe-Ni-Mn maraging alloys are suffering from sever embrittlement after aging. Mechanism of the embrittelement has not been well understood yet. Segregation of Mn atoms or formation of Austenite particles at prior Austenite grain boundaries (PAGBs) have been reported as embrittelement mechanisms while it remains controversial now. For better understanding of embrittelement behavior, effect of subzero treating after aging, double aging and modification of alloy composition on the mechanical properties and fracture behavior were investigated. Alloys of chemical compositions Fe-11.9 wt.% Ni-6.3 wt.% Mn and Fe-10.5 wt.% Ni-5.8 wt.% Mo-3 wt.% Mn were studied. Double solution annealing was performed at 1223 and 1093 K for 3.6 ks followed by water quenching. After aging at 723 K for 0.9 ks (under aging) and 172.8 ks (over aging), tensile properties of specimens heat treated conventionally and cryogenically were measured. Double aging was done at 623 K for 3.6 ks followed by a step aging at 753, 783 and 803 K. Aging behavior and tensile properties of Fe-10.5 wt.% Ni-5.8 wt.% Mo-3 wt.% Mn were investigated after aging at 773 K. Results showed that alloy modification yields reasonable tensile properties while subzero treatment and double aging couldn't improve tensile properties. An insight toward more investigation of the embrittelement mechanism was made on the basis of this study

Co-introduced functional CCR2 potentiates in vivo anti-lung cancer functionality mediated by T cells double gene-modified to express WT1-specific T-cell receptor.

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Hiroaki Asai

Full Text Available BACKGROUND AND PURPOSE: Although gene-modification of T cells to express tumor-related antigen-specific T-cell receptor (TCR or chimeric antigen receptor (CAR has clinically proved promise, there still remains room to improve the clinical efficacy of re-directed T-cell based antitumor adoptive therapy. In order to achieve more objective clinical responses using ex vivo-expanded tumor-responsive T cells, the infused T cells need to show adequate localized infiltration into the tumor. METHODOLOGY/PRINCIPAL FINDINGS: Human lung cancer cells variously express a tumor antigen, Wilms' Tumor gene product 1 (WT1, and an inflammatory chemokine, CCL2. However, CCR2, the relevant receptor for CCL2, is rarely expressed on activated T-lymphocytes. A HLA-A2402(+ human lung cancer cell line, LK79, which expresses high amounts of both CCL2 and WT1 mRNA, was employed as a target. Normal CD8(+ T cells were retrovirally gene-modified to express both CCR2 and HLA-A*2402-restricted and WT1(235-243 nonapeptide-specific TCR as an effector. Anti-tumor functionality mediated by these effector cells against LK79 cells was assessed both in vitro and in vivo. Finally the impact of CCL2 on WT1 epitope-responsive TCR signaling mediated by the effector cells was studied. Introduced CCR2 was functionally validated using gene-modified Jurkat cells and human CD3(+ T cells both in vitro and in vivo. Double gene-modified CD3(+ T cells successfully demonstrated both CCL2-tropic tumor trafficking and cytocidal reactivity against LK79 cells in vitro and in vivo. CCL2 augmented the WT1 epitope-responsive TCR signaling shown by relevant luciferase production in double gene-modified Jurkat/MA cells to express luciferase and WT1-specific TCR, and CCL2 also dose-dependently augmented WT1 epitope-responsive IFN-γ production and CD107a expression mediated by these double gene-modified CD3(+ T cells. CONCLUSION/SIGNIFICANCE: Introduction of the CCL2/CCR2 axis successfully potentiated in

Co-Introduced Functional CCR2 Potentiates In Vivo Anti-Lung Cancer Functionality Mediated by T Cells Double Gene-Modified to Express WT1-Specific T-Cell Receptor

Science.gov (United States)

Asai, Hiroaki; Fujiwara, Hiroshi; An, Jun; Ochi, Toshiki; Miyazaki, Yukihiro; Nagai, Kozo; Okamoto, Sachiko; Mineno, Junichi; Kuzushima, Kiyotaka; Shiku, Hiroshi; Inoue, Hirofumi; Yasukawa, Masaki

2013-01-01

Background and Purpose Although gene-modification of T cells to express tumor-related antigen-specific T-cell receptor (TCR) or chimeric antigen receptor (CAR) has clinically proved promise, there still remains room to improve the clinical efficacy of re-directed T-cell based antitumor adoptive therapy. In order to achieve more objective clinical responses using ex vivo-expanded tumor-responsive T cells, the infused T cells need to show adequate localized infiltration into the tumor. Methodology/Principal Findings Human lung cancer cells variously express a tumor antigen, Wilms' Tumor gene product 1 (WT1), and an inflammatory chemokine, CCL2. However, CCR2, the relevant receptor for CCL2, is rarely expressed on activated T-lymphocytes. A HLA-A2402+ human lung cancer cell line, LK79, which expresses high amounts of both CCL2 and WT1 mRNA, was employed as a target. Normal CD8+ T cells were retrovirally gene-modified to express both CCR2 and HLA-A*2402-restricted and WT1235–243 nonapeptide-specific TCR as an effector. Anti-tumor functionality mediated by these effector cells against LK79 cells was assessed both in vitro and in vivo. Finally the impact of CCL2 on WT1 epitope-responsive TCR signaling mediated by the effector cells was studied. Introduced CCR2 was functionally validated using gene-modified Jurkat cells and human CD3+ T cells both in vitro and in vivo. Double gene-modified CD3+ T cells successfully demonstrated both CCL2-tropic tumor trafficking and cytocidal reactivity against LK79 cells in vitro and in vivo. CCL2 augmented the WT1 epitope-responsive TCR signaling shown by relevant luciferase production in double gene-modified Jurkat/MA cells to express luciferase and WT1-specific TCR, and CCL2 also dose-dependently augmented WT1 epitope-responsive IFN-γ production and CD107a expression mediated by these double gene-modifiedCD3+ T cells. Conclusion/Significance Introduction of the CCL2/CCR2 axis successfully potentiated in vivo anti-lung cancer

Microstructure and electrochemical corrosion behavior of a Pb-1 wt%Sn alloy for lead-acid battery components

Energy Technology Data Exchange (ETDEWEB)

Peixoto, Leandro C.; Osorio, Wislei R.; Garcia, Amauri [Department of Materials Engineering, University of Campinas - UNICAMP, PO Box 612, 13083-970, Campinas - SP (Brazil)

2009-07-15

The aim of this study was to evaluate the effect of solidification cooling rates on the as-cast microstructural morphologies of a Pb-1 wt%Sn alloy, and to correlate the resulting microstructure with the corresponding electrochemical corrosion resistance in a 0.5 M H{sub 2}SO{sub 4} solution at 25 C. Cylindrical low-carbon steel and insulating molds were employed permitting the two extremes of a significant range of solidification cooling rates to be experimentally examined. Electrochemical impedance spectroscopy (EIS) diagrams, potentiodynamic polarization curves and an equivalent circuit analysis were used to evaluate the electrochemical corrosion response of Pb-1 wt%Sn alloy samples. It was found that lower cooling rates are associated with coarse cellular arrays which result in better corrosion resistance than fine cells which are related to high cooling rates. The experimental results have shown that that the pre-programming of microstructure cell size of Pb-Sn alloys can be used as an alternative way to produce as-cast components of lead-acid batteries with higher corrosion resistance. (author)

A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.

Science.gov (United States)

Morine, Mikio; Kohmoto, Tomohiro; Masuda, Kiyoshi; Inagaki, Hidehito; Watanabe, Miki; Naruto, Takuya; Kurahashi, Hiroki; Maeda, Kazuhisa; Imoto, Issei

2015-12-01

Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and congenital heart defects and caused by numerous germline mutations of TBX5 producing preterminal stop codons. Here, we report on a novel and unusual heterozygous TBX5 microdeletion with microinsertion (microindel) mutation (c.627delinsGTGACTCAGGAAACGCTTTCCTGA), which is predicted to synthesize a truncated TBX5 protein, detected in a sporadic patient with clinical features of HOS prenatally diagnosed by ultrasonography. This uncommon and relatively large inserted sequence contains sequences derived from nearby but not adjacent templates on both sense and antisense strands, suggesting two possible models, which require no repeat sequences, causing this complex microindel through the bypass of large DNA adducts via an error-prone DNA polymerase-mediated translesion synthesis. © 2015 Wiley Periodicals, Inc.

THE EFFECT OF RARE EARTH ELEMENTS ON Cr PRECIPITATIONS IN A Cu-0.8WT%Cr ALLOY

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Gewang Shuai

2011-05-01

Full Text Available The microstructural evolution of Cu-based alloys during aging was studied using a quantitative metallographic method. Samples were cut from ingots of Cu-0.8wt%Cr and Cu-0.8wt%Cr-RE alloys. These were solution treated at 1000 ºC for 1.5h and subsequently quenched in water, then separately aged at 480 ºC for different durations. The microstructures were observed by optical microscope, and the characteristic geometric parameters of precipitated Cr phase, including volume fraction VV, face density NA, mean diameter and roundness, were measured. These data provided more details about the process of aging. The results showed that precipitation of Cr phase occurred in the form of particles during aging. Rare earth elements promoted the precipitation of Cr phase and dispersed Cr particles. The phenomenon of overaging came earlier in Cu-Cr-RE than in Cu-Cr. In the present work, the optimal aging time at 480 ºC was 2 hrs for the Cu-0.8wt%Cr-RE alloy and 3 hours for the Cu-0.8wt%Cr alloy.

Hardness and microstructure of Al-10.0 wt% Zn-4.0 wt% Mg alloy

International Nuclear Information System (INIS)

Iqbal, M.; Shaikh, M.A.; Ahmad, W.; Ali, K.L.

1996-01-01

Al-Zn-Mg alloys are widely used in industries as these have excellent physical and mechanical properties. However some aspects of the effect of heat treatment on these alloys are not yet clear. In order to understand the precipitation phenomena in these alloys, microstructure of a locally prepared alloy Al-10.0 wt% Zn-4.0 wt% Mg heat treated under different conditions has been examined in scanning electron microscope/electron probe micro analyser. Precipitates MgZn/sub 2/, MgZn/sub 4/ and Mg/sub 2/Zn/sub 11/ have been observed and these are caused by heat treatment. Correlation between these precipitates and Vickers's hardness has also been studied. In the present paper results of this investigation have been presented and discussed. (author)

Multiscale modeling of a low magnetostrictive Fe-27wt%Co-0.5wt%Cr alloy

Science.gov (United States)

Savary, M.; Hubert, O.; Helbert, A. L.; Baudin, T.; Batonnet, R.; Waeckerlé, T.

2018-05-01

The present paper deals with the improvement of a multi-scale approach describing the magneto-mechanical coupling of Fe-27wt%Co-0.5wt%Cr alloy. The magnetostriction behavior is demonstrated as very different (low magnetostriction vs. high magnetostriction) when this material is submitted to two different final annealing conditions after cold rolling. The numerical data obtained from a multi-scale approach are in accordance with experimental data corresponding to the high magnetostriction level material. A bi-domain structure hypothesis is employed to explain the low magnetostriction behavior, in accordance with the effect of an applied tensile stress. A modification of the multiscale approach is proposed to match this result.

Rhodamine-WT dye losses in a mountain stream environment

Science.gov (United States)

Bencala, Kenneth E.; Rathburn, Ronald E.; Jackman, Alan P.; Kennedy, Vance C.; Zellweger, Gary W.; Avanzino, Ronald J.

1983-01-01

A significant fraction of rhodamine WT dye was lost during a short term multitracer injection experiment in a mountain stream environment. The conservative anion chloride and the sorbing cation lithium were concurrently injected. In-stream rhodamine WT concentrations were as low as 45 percent of that expected, based on chloride data. Concentration data were available from shallow‘wells’dug near the stream course and from a seep of suspected return flow. Both rhodamine WT dye and lithium were nonconservative with respect to the conservative chloride, with rhodamine WT dye closely following the behavior of the sorbing lithium.Nonsorption and sorption mechanisms for rhodamine WT loss in a mountain stream were evaluated in laboratory experiments. Experiments evaluating nonsorption losses indicated minimal losses by such mechanisms. Laboratory experiments using sand and gravel size streambed sediments show an appreciable capacity for rhodamine WT sorption.The detection of tracers in the shallow wells and seep indicates interaction between the stream and the flow in the surrounding subsurface, intergravel water, system. The injected tracers had ample opportunity for intimate contact with materials shown in the laboratory experiments to be potentially sorptive. It is suggested that in the study stream system, interaction with streambed gravel was a significant mechanism for the attenuation of rhodamine WT dye (relative to chloride).

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

Directory of Open Access Journals (Sweden)

Almira Zada

2014-01-01

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

Optimization of Surrounding Reflector Material for Hyb-WT

International Nuclear Information System (INIS)

Tariq Siddique, M.; Hong, Song Hee; Kim, Myung Hyun

2013-01-01

The choice of reflector material is crucial for fusion and hybrid reactors as it was for the fission reactors. Multiple reflector materials were studied for pure fusion blanket design. The purpose of reflector in fusion blanket is to enhance the tritium breeding ratio (TBR). In fusion fission hybrid blanket the roll of reflector is slightly changed as it include the fission core and the performance of fission core also needs to be optimized and evaluated with the choice of reflector material, along with the enhancement of TBR. The performance parameters of Hyb-WT are significantly influenced by the choice of reflector material. TiC is best for TRU transmutation, TBR and reduced the neutron wall loading and graphite is best for FP transmutation. Strategy of multi reflector materials gives the best TRU and FP transmutation performance and also enhanced TBR with reduced neutron wall loading and it is a better choice for Hyb-WT reflector. The neutron flux is primarily dominated by the fission neutrons

Acute WT1-positive promyelocytic leukemia with hypogranular variant morphology, bcr-3 isoform of PML-RARα and Flt3-ITD mutation: a rare case report

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Xi Zhang

Full Text Available ABSTRACT CONTEXT: Acute promyelocytic leukemia (APL accounts for 8% to 10% of cases of acute myeloid leukemia (AML. Remission in cases of high-risk APL is still difficult to achieve, and relapses occur readily. CASE REPORT: Here, we describe a case of APL with high white blood cell counts in blood tests and hypogranular variant morphology in bone marrow, together with fms-like tyrosine kinase-3 with internal tandem duplication mutations (FLT3-ITD, and bcr-3 isoform of PML-RARα. Most importantly, we detected high level of Wilms’ tumor gene (WT1 in marrow blasts, through the reverse transcription polymerase chain reaction (RT-PCR. To date, no clear conclusions about an association between WT1 expression levels and APL have been reached. This patient successively received a combined treatment regimen consisting of hydroxycarbamide, arsenic trioxide and idarubicin plus cytarabine, which ultimately enabled complete remission. Unfortunately, he subsequently died of sudden massive hemoptysis because of pulmonary infection. CONCLUSION: Based on our findings and a review of the literature, abnormal functioning of WT1 may be a high-risk factor in cases of APL. Further studies aimed towards evaluating the impact of WT1 expression on the prognosis for APL patients are of interest.

Phase Transformation Behavior of Medium Manganese Steels with 3 Wt Pct Aluminum and 3 Wt Pct Silicon During Intercritical Annealing

Science.gov (United States)

Sun, Binhan; Fazeli, Fateh; Scott, Colin; Yue, Stephen

2016-10-01

Medium manganese steels alloyed with sufficient aluminum and silicon amounts contain high fractions of retained austenite adjustable to various transformation-induced plasticity/twinning-induced plasticity effects, in addition to a reduced density suitable for lightweight vehicle body-in-white assemblies. Two hot rolled medium manganese steels containing 3 wt pct aluminum and 3 wt pct silicon were subjected to different annealing treatments in the present study. The evolution of the microstructure in terms of austenite transformation upon reheating and the subsequent austenite decomposition during quenching was investigated. Manganese content of the steels prevailed the microstructural response. The microstructure of the leaner alloy with 7 wt pct Mn (7Mn) was substantially influenced by the annealing temperature, including the variation of phase constituents, the morphology and composition of intercritical austenite, the Ms temperature and the retained austenite fraction. In contrast, the richer variant 10 wt pct Mn steel (10Mn) exhibited a substantially stable ferrite-austenite duplex phase microstructure containing a fixed amount of retained austenite which was found to be independent of the variations of intercritical annealing temperature. Austenite formation from hot band ferrite-pearlite/bainite mixtures was very rapid during annealing at 1273 K (1000 °C), regardless of Mn contents. Austenite growth was believed to be controlled at early stages by carbon diffusion following pearlite/bainite dissolution. The redistribution of Mn in ferrite and particularly in austenite at later stages was too subtle to result in a measureable change in austenite fraction. Further, the hot band microstructure of both steels contained a large fraction of coarse-grained δ-ferrite, which remained almost unchanged during intercritical annealing. A recently developed thermodynamic database was evaluated using the experimental data. The new database achieved a better agreement

Thermal expansion of ThO2-2 wt% UO2 by HT-XRD

International Nuclear Information System (INIS)

Tyagi, A.K.; Mathews, M.D.

2000-01-01

The linear thermal expansion of polycrystalline ThO 2 -2 wt% UO 2 has been investigated from room temperature to 1473 K in flowing helium atmosphere using high temperature X-ray diffractometry. ThO 2 -2 wt% UO 2 shows a marginally higher linear thermal expansion as compared to pure ThO 2 . The average linear and volume thermal expansion coefficients of ThO 2 -2 wt% UO 2 are found to be α-bar a =9.74x10 -6 K -1 and α-bar v =29.52x10 -6 K -1 (298-1473 K). This study will be useful in designing the nuclear reactor fuel assembly based on ThO 2

Preparation and investigation of Al–4 wt % B4C nanocomposite ...

Indian Academy of Sciences (India)

cal behaviour including light weight, electrical and thermal conductivity (Boey et ... cle sizes, density, geometries, flow or the development of an electrical charge ... 2. Experimental. Argon gas atomized Al–2 wt % Cu powders with a mean size.

SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case

Directory of Open Access Journals (Sweden)

Costa Elena

2011-05-01

Full Text Available Abstract Background 22q11.2 microdeletion is responsible for the DiGeorge Syndrome, characterized by heart defects, psychiatric disorders, endocrine and immune alterations and a 1 in 4000 live birth prevalence. Real-time quantitative PCR (qPCR approaches for allelic copy number determination have recently been investigated in 22q11.2 microdeletions detection. The qPCR method was performed for 22q11.2 microdeletions detection as a first-level screening approach in a genetically unknown series of patients with congenital heart defects. A technical issue related to the VPREB1 qPCR marker was pointed out. Methods A set of 100 unrelated Italian patients with congenital heart defects were tested for 22q11.2 microdeletions by a qPCR method using six different markers. Fluorescence In Situ Hybridization technique (FISH was used for confirmation. Results qPCR identified six patients harbouring the 22q11.2 microdeletion, confirmed by FISH. The VPREB1 gene marker presented with a pattern consistent with hemideletion in one 3 Mb deleted patient, suggestive for a long distal deletion, and in additional five non-deleted patients. The long distal 22q11.2 deletion was not confirmed by Comparative Genomic Hybridization. Indeed, the VPREB1 gene marker generated false positive results in association with the rs1320 G/A SNP, a polymorphism localized within the VPREB1 marker reverse primer sequence. Patients heterozygous for rs1320 SNP, showed a qPCR profile consistent with the presence of a hemideletion. Conclusions Though the qPCR technique showed advantages as a screening approach in terms of cost and time, the VPREB1 marker case revealed that single nucleotide polymorphisms can interfere with qPCR data generating erroneous allelic copy number interpretations.

The Synthesis and Characterization of W- 1wt.% TiC Alloy Using a Chemical Method

Energy Technology Data Exchange (ETDEWEB)

Kim, Taehee; Ryu, Ho Jin [KAIST, Daejeon (Korea, Republic of)

2016-10-15

The tungsten and its alloys have been used in many applications due to their excellent mechanical and thermal properties such as high melting point, high thermal conductivity, high strength at elevated temperatures, low sputtering yield in radiation environment and low tritium inventory. Moreover, many researchers consider tungsten alloys as the most promising candidate for plasma facing components for future nuclear fusion reactors. Three samples of W – 1.0 wt.% TiC composites with the different fabrication methods were successfully developed. The combined method of the wet chemical method and 3D mixing showed small amount of agglomeration of TiC particles, however, the TiC particle sizes were smaller than 3DM1 sample. Since the WCM1 showed the better mechanical property, microhardness, the main future plan is to achieve the same or improved mechanical property of W3D1.

Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome.

Science.gov (United States)

Haeri, Sina; Devers, Patricia L; Kaiser-Rogers, Kathleen A; Moylan, Vincent J; Torchia, Beth S; Horton, Amanda L; Wolfe, Honor M; Aylsworth, Arthur S

2010-08-01

Prune belly syndrome is a rare congenital disorder characterized by deficiency of abdominal wall muscles, cryptorchidism, and urinary tract anomalies. We have had the opportunity to study a baby with prune belly syndrome associated with an apparently de novo 1.3-megabase interstitial 17q12 microdeletion that includes the hepatocyte nuclear factor-1-beta gene at 17q12. One previous patient, an adult, has been reported with prune belly syndrome and a hepatocyte nuclear factor-1-beta microdeletion. Hepatocyte nuclear factor-1-beta is a widely expressed transcription factor that regulates tissue-specific gene expression and is expressed in numerous tissues including mesonephric duct derivatives, the renal tubule of the metanephros, and the developing prostate of the mouse. Mutations in hepatocyte nuclear factor-1-beta cause the "renal cysts and diabetes syndrome," isolated renal cystic dysplasia, and a variety of other malformations. Based on its expression pattern and the observation of two affected cases, we propose that haploinsufficiency of hepatocyte nuclear factor-1-beta may be causally related to the production of the prune belly syndrome phenotype through a mechanism of prostatic and ureteral hypoplasia that results in severe obstructive uropathy with urinary tract and abdominal distension. Copyright Thieme Medical Publishers.

TTP SR1-6-WT-31, Milestone C.3-2 Annual Report on Clemson/INEEL Melter Work

International Nuclear Information System (INIS)

Bickford, D.F.

1999-01-01

This work is performed in collaboration with RL37WT31-C and ID77WT31-B. During the first two years of radioactive operation of the DWPF process, several areas for improvement in melter design have been identified. The continuing scope of this task is to address performance limitations and deficiencies identified by the user. SRS will design and test several configurations of the melter pour spout and associated equipment to improve consistency of performance and recommend design improvements

TTP SR1-6-WT-31, Milestone C.3-2 Annual Report on Clemson/INEEL Melter Work

Energy Technology Data Exchange (ETDEWEB)

Bickford, D.F.

1999-10-20

This work is performed in collaboration with RL37WT31-C and ID77WT31-B. During the first two years of radioactive operation of the DWPF process, several areas for improvement in melter design have been identified. The continuing scope of this task is to address performance limitations and deficiencies identified by the user. SRS will design and test several configurations of the melter pour spout and associated equipment to improve consistency of performance and recommend design improvements.

Review of Z phase precipitation in 9–12 wt-%Cr steels

DEFF Research Database (Denmark)

Danielsen, Hilmar Kjartansson

2016-01-01

For high temperature applications, 9–12 wt-%Cr steels in fossil fired power plants rely upon precipitate strengthening from (V,Nb)N MX nitrides for long term creep strength. During prolonged exposure at service temperature, another nitride precipitates: Cr(V,Nb)NZ phase. The Z phases lowly replace......MX, eventually causing a breakdown in creep strength. The present paper reviews the Z phase and its behaviour in 9–12 wt-%Cr steels including thermodynamic modelling, crystal structure, nucleation process and precipitation rate as a function of chemical composition. The influence of Z phase precipitation upon...

Highlighting micrographic structures of uranium alloys containing 0.5 to 10 per cent wt molybdenum

International Nuclear Information System (INIS)

Laniesse, J.; Bouleau, M.

1959-02-01

The authors report a study which aimed at determining for different uranium molybdenum alloys and with respect to their molybdenum content a polishing method which allows a relatively simple grain examination in the as-cast condition, an as perfect as possible resolution of eutectic decompositions, and the appropriate conditions to highlight structures (beta-alpha and gamma-alpha martensite transformations, beta phase retention and decomposition, transient structures, eutectoid decomposition, and so on). Alloys differ by their molybdenum content: from 0.5 to 1 per cent wt, 1.5 to 3 per cent wt, 5 to 10 per cent wt

Genetics Home Reference: 1q21.1 microdeletion

Science.gov (United States)

... reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Citation on PubMed or Free article on PubMed Central Haldeman-Englert CR, Jewett T. ...

Early Death in Two Patients with Acute Promyelocytic Leukemia Presenting the bcr3 Isoform, FLT3-ITD Mutation, and Elevated WT1 Level

Directory of Open Access Journals (Sweden)

Marianna Greco

2013-01-01

Full Text Available Despite major advances in the treatment of acute promyelocytic leukemia (APL, the problem of early death (ED remains unsolved. Alongside the currently known clinical and hematological risk factors, prognostic significance has been attributed to internal tandem duplication mutations of the fms-like tyrosine kinase-3 (FLT3-ITD, hypogranular variant morphology, and the bcr-3 isoform of PML-RARα. We describe premature death of two patients with the hypogranular variant of APL who presented remarkably high expression levels of Wilms' tumor gene (WT1. Our results point to WT1 as an important prognostic factor of ED that needs to be promptly evaluated in all newly diagnosed cases of APL.

Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

Science.gov (United States)

Jones, Gabriela E; Mousa, Hatem A; Rowley, Helen; Houtman, Peter; Vasudevan, Pradeep C

2015-12-01

The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised. Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease. Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause. © 2015 John Wiley & Sons, Ltd.

Viscous behavior of (Sn61.9Pb38.1)100-xREx (x=0, 0.1, 0.3, 1 wt%) solder alloys

International Nuclear Information System (INIS)

Wu Yuqin; Bian Xiufang; Zhao Yan; Li Xuelian; Zhang Yanning; Tian Yongsheng; Lv Xiaoqian

2008-01-01

The viscous behavior of (Sn 61.9 Pb 38.1 ) 100-x RE x (x=0, 0.1, 0.3, 1 wt%) solder alloys has been investigated by a torsional oscillation viscometer. The structural transition temperature T ' increases with increasing addition of RE elements. Above T ' , the viscosities of melts increase with increasing addition of RE, and are fitted well with the Arrhenius equation. The time dependence of viscosity at the measured temperature below T ' follows the exponential relaxation function and reflects the process of the structural transition in the melt, which can be considered as the thermodynamic equilibrium process. The thermodynamic equilibrium relaxation time τ eq increases with both the equilibrium viscosity η eq and the discrepancy in viscosity (Δη), between the initial state and the equilibrium state. However, it decreases with the measured temperature T. The size of clusters in the melts increases with increasing of viscosity and is restricted by the thermodynamic equilibrium conditions

Microstructure and mechanical properties of an extruded Mg-8Bi-1Al-1Zn (wt%) alloy

Energy Technology Data Exchange (ETDEWEB)

Meng, Shuaiju [School of Materials Science and Engineering, Hebei University of Technology, Tianjin 300130 (China); Yu, Hui, E-mail: yuhuidavid@gmail.com [School of Materials Science and Engineering, Hebei University of Technology, Tianjin 300130 (China); Materials Commercialization Center, Korea Institute of Materials Science, Changwon 51508 (Korea, Republic of); Zhang, Huixing [Mechanical and Material School, Tianjin Sino-German University of Applied Sciences, Tianjin 300350 (China); Cui, Hongwei [School of Materials Science and Engineering, Shangdong University of Technology, Zibo 255049 (China); Park, Sung Hyuk [School of Materials Science and Engineering, Kyungpook National University, Daegu 702701 (Korea, Republic of); Zhao, Weiming [School of Materials Science and Engineering, Hebei University of Technology, Tianjin 300130 (China); You, Bong Sun [Materials Commercialization Center, Korea Institute of Materials Science, Changwon 51508 (Korea, Republic of)

2017-04-06

In this study, the microstructural evolution and mechanical properties of a newly developed rare earth free Mg-8Bi-1Al-1Zn (BAZ811, in wt%) alloy were investigated and compared with those of a commercial AZ31 alloy. The as-extruded BAZ811 alloy with much finer grain size shows more homogeneous dynamical recrystallized (DRXed) microstructure and weaker basal texture than those of AZ31 alloy. In addition, compared with bimodal structure AZ31 alloy containing only relatively coarse and sparse Al{sub 8}Mn{sub 5} phases, the coexistence of strip-like fragmented Mg{sub 3}Bi{sub 2} precipitate and nano-size Mg{sub 3}Bi{sub 2} particles in the microstructure was observed in BAZ811 alloy. Moreover, the BAZ811 alloy exhibits a tensile yield stress of 291 MPa, an ultimate tensile strength of 331 MPa, an elongation to failure of 14.6% as well as a reduction in yield asymmetry, which is mainly attributed to the combined effects of grain refinement and micro-scale broken Mg{sub 3}Bi{sub 2} particles together with nano-scale spherical Mg{sub 3}Bi{sub 2} precipitates. The strain hardening behavior of both BAZ811 and AZ31 alloys were also discussed in terms of microstructure variation.

Generation of H1 PAX6WT/EGFP reporter cells to purify PAX6 positive neural stem/progenitor cells.

Science.gov (United States)

Wu, Wei; Liu, Juli; Su, Zhenghui; Li, Zhonghao; Ma, Ning; Huang, Ke; Zhou, Tiancheng; Wang, Linli

2018-08-25

Neural conversion from human pluripotent cells (hPSCs) is a potential therapy to neurological disease in the future. However, this is still limited by efficiency and stability of existed protocols used for neural induction from hPSCs. To overcome this obstacle, we developed a reporter system to screen PAX6 + neural progenitor/stem cells using transcription activator like effector nuclease (TALEN). We found that knock-in 2 A-EGFP cassette into PAX6 exon of human embryonic stem cells H1 with TALEN-based homology recombination could establish PAX6 WT/EGFP H1 reporter cell line fast and efficiently. This reporter cell line could differentiate into PAX6 and EGFP double positive neural progenitor/stem cells (NPCs/NSCs) after neural induction. Those PAX6 WT/EGFP NPCs could be purified, expanded and specified to post-mitotic neurons in vitro efficiently. With this reporter cell line, we also screened out 1 NPC-specific microRNA, hsa-miR-99a-5p, and 3 ESCs-enriched miRNAs, hsa-miR-302c-5p, hsa-miR-512-3p and hsa-miR-518 b. In conclusion, the TALEN-based neural stem cell screening system is safe and efficient and could help researcher to acquire adequate and pure neural progenitor cells for further application. Copyright © 2018 Elsevier Inc. All rights reserved.

Microstructural evolution of a uranium-10 wt.% molybdenum alloy for nuclear reactor fuels

International Nuclear Information System (INIS)

Clarke, A.J.; Clarke, K.D.; McCabe, R.J.; Necker, C.T.; Papin, P.A.; Field, R.D.; Kelly, A.M.; Tucker, T.J.; Forsyth, R.T.; Dickerson, P.O.; Foley, J.C.; Swenson, H.; Aikin, R.M.; Dombrowski, D.E.

2015-01-01

Low-enriched uranium-10 wt.% molybdenum (LEU-10wt.%Mo) is of interest for the fabrication of monolithic fuels to replace highly-enriched uranium (HEU) dispersion fuels in high performance research and test reactors around the world. In this work, depleted uranium-10 wt.%Mo (DU-10wt.%Mo) is used to simulate the solidification and microstructural evolution of LEU-10wt.%Mo. Electron backscatter diffraction (EBSD) and complementary electron probe microanalysis (EPMA) reveal significant microsegregation present in the metastable γ-phase after solidification. Homogenization is performed at 800 and 1000 °C for times ranging from 1 to 32 h to explore the time–temperature combinations that will reduce the extent of microsegregation, as regions of higher and lower Mo content may influence local mechanical properties and provide preferred regions for γ-phase decomposition. We show for the first time that EBSD can be used to qualitatively assess microstructural evolution in DU-10wt.%Mo after homogenization treatments. Complementary EPMA is used to quantitatively confirm this finding. Homogenization at 1000 °C for 2–4 h may the regions that contain 8 wt.% Mo or lower, whereas homogenization at 1000 °C for longer than 8 h effectively saturates Mo chemical homogeneity, but results in substantial grain growth. The appropriate homogenization time will depend upon additional microstructural considerations, such as grain growth and intended subsequent processing. Higher carbon LEU-10wt.%Mo generally contains more inclusions within the grains and at grain boundaries after solidification. The effect of these inclusions on microstructural evolution (e.g. grain growth) during homogenization and as potential γ-phase decomposition nucleation sites is unclear, but likely requires additional study.

Microstructural evolution of a uranium-10 wt.% molybdenum alloy for nuclear reactor fuels

Energy Technology Data Exchange (ETDEWEB)

Clarke, A.J., E-mail: aclarke@lanl.gov; Clarke, K.D.; McCabe, R.J.; Necker, C.T.; Papin, P.A.; Field, R.D.; Kelly, A.M.; Tucker, T.J.; Forsyth, R.T.; Dickerson, P.O.; Foley, J.C.; Swenson, H.; Aikin, R.M.; Dombrowski, D.E.

2015-10-15

Low-enriched uranium-10 wt.% molybdenum (LEU-10wt.%Mo) is of interest for the fabrication of monolithic fuels to replace highly-enriched uranium (HEU) dispersion fuels in high performance research and test reactors around the world. In this work, depleted uranium-10 wt.%Mo (DU-10wt.%Mo) is used to simulate the solidification and microstructural evolution of LEU-10wt.%Mo. Electron backscatter diffraction (EBSD) and complementary electron probe microanalysis (EPMA) reveal significant microsegregation present in the metastable γ-phase after solidification. Homogenization is performed at 800 and 1000 °C for times ranging from 1 to 32 h to explore the time–temperature combinations that will reduce the extent of microsegregation, as regions of higher and lower Mo content may influence local mechanical properties and provide preferred regions for γ-phase decomposition. We show for the first time that EBSD can be used to qualitatively assess microstructural evolution in DU-10wt.%Mo after homogenization treatments. Complementary EPMA is used to quantitatively confirm this finding. Homogenization at 1000 °C for 2–4 h may the regions that contain 8 wt.% Mo or lower, whereas homogenization at 1000 °C for longer than 8 h effectively saturates Mo chemical homogeneity, but results in substantial grain growth. The appropriate homogenization time will depend upon additional microstructural considerations, such as grain growth and intended subsequent processing. Higher carbon LEU-10wt.%Mo generally contains more inclusions within the grains and at grain boundaries after solidification. The effect of these inclusions on microstructural evolution (e.g. grain growth) during homogenization and as potential γ-phase decomposition nucleation sites is unclear, but likely requires additional study.

Effect of Cu addition on the microstructure and mechanical properties of Al–30 wt% Zn alloy

International Nuclear Information System (INIS)

Abd El-Rehim, A.F.; Sakr, M.S.; El-Sayed, M.M.; Abd El-Hafez, M.

2014-01-01

Highlights: • This paper describes a novel work on the effect of Cu addition on the Al–30 wt% Zn alloy. • The 1 wt% Cu alloy revealed the best hardness of the alloys. • The results indicated two deformation temperature regions (below and above 548 K). - Abstract: The effect of 0.5, 1, 1.5 and 2 wt% Cu addition on the microstructure and mechanical properties of Al–30 wt% Zn alloy has been investigated by stress–strain tests carried out in the temperature range from 508 to 608 K. The work-hardening parameters of the test alloys decreased with increasing the deformation temperature and exhibited discontinuity at 548 K, resulting two deformation temperature regions, the low-temperature region (below 548 K) and high-temperature region (above 548 K). The activation energy of fracture mechanisms has been calculated and found to be 19.6 and 33.2 kJ/mol at the low and high temperature regions respectively. The operating mechanisms of work-hardening of the test alloys were confirmed by the analysis of X-ray diffraction patterns

Infiltration Behavior Of Mechanical Alloyed 75 wt% Cu-25 wt% WC Powders Into Porous WC Compacts

Directory of Open Access Journals (Sweden)

Şelte A.

2015-06-01

Full Text Available In this work infiltration behavior of mechanical alloyed 75 wt% Cu – 25 wt% WC powders into porous WC compacts were studied. Owing to their ductile nature, initial Cu powders were directly added to mechanical alloying batch. On the other hand initial WC powders were high energy milled prior to mechanical alloying. Contact infiltration method was selected for densification and compacts prepared from processed powders were infiltrated into porous WC bodies. After infiltration, samples were characterized via X-Ray diffraction studies and microstructural evaluation of the samples was carried out via scanning electron microscopy observations. Based on the lack of solubility between WC and Cu it was possible to keep fine WC particles in Cu melt since solution reprecipitation controlled densification is hindered. Also microstructural characterizations via scanning electron microscopy confirmed that the transport of fine WC fraction from infiltrant to porous WC skeleton can be carried out via Cu melt flow during infiltration.

The transformation behaviour of the beta phase in Zr-2.5 wt% Nb pressure tubes

International Nuclear Information System (INIS)

Griffiths, M.; Winegar, J.E.

1994-12-01

A temperature-time-transformation (TTT) diagram has been developed for the β-phase in Zr-2.5 wt% Nb pressure tubes. The results show that the morphology and/or physical state of the β-phase in pressure tubes has a significant effect on the transformation behaviour compared with a bulk Zr-19 wt%Nb alloy. (author). 14 refs., 1 tab., 15 figs

Microstructural and thermophysical properties of U–6 wt.%Zr alloy for fast reactor application

International Nuclear Information System (INIS)

Kaity, Santu; Banerjee, Joydipta; Nair, M.R.; Ravi, K.; Dash, Smruti; Kutty, T.R.G.; Kumar, Arun; Singh, R.P.

2012-01-01

Highlights: ► Characterization of U–6%Zr alloy prepared by injection casting route. ► Martensitic to non-martensitic transformation of U–6%Zr alloy occurs at 843 K. ► Specific heat versus temperature curve shows a phase transition at 845 K. ► Average coefficient of thermal expansion is 18.28 × 10 −6 K −1 (298–823 K). ► Hardness versus temperature plot shows a transition at 748 K. - Abstract: The microstructural and high temperature behavior of U–6 wt.%Zr alloy has been investigated in this study. U–6 wt.%Zr alloy sample for this study was prepared by following injection casting route. The thermophysical properties like coefficient of thermal expansion, specific heat, thermal conductivity of the above alloy were determined. The hot-hardness data of the U–6 wt.%Zr alloy was also generated from room temperature to 973 K. Apart from that, the fuel-clad chemical compatibility with T91 grade steel was also studied by diffusion couple experiment. No studies have been reported on U–6 wt.%Zr alloy. This paper aims at filling up the gap on characterization and thermophysical property evaluation of U–6 wt.%Zr alloy.

Aluminium-12wt% silicon coating prepared by thermal spraying technique: Part 1 optimization of spray condition based on a design of experiment

Directory of Open Access Journals (Sweden)

Jiansirisomboon, S.

2006-03-01

Full Text Available At present, thermal spray technology is used for maintenance parts of various machines in many industries. This technology can be used to improve the surface wear resistance. Therefore, this technology can significantly reduce cost of manufacturing. Al-12wt%Si alloy is an interesting and popular material used in the automotive industry. This research studies the suitable condition for spraying of Al-12wt%Si powder. This powder was sprayed by a flame spray technique onto low carbon steel substrates. The suitable conditions for spraying can be achieved by a design of experiment (DOE principle, which provided statistical data defined at 90% confidence. This research used control factors, which were oxygen flow rate, acetylene flow rate and spray distance. The satisfaction levels of these factors were set at 3 levels, i.e. low, medium and high, in order to determine suitable responses, which were hardness, thickness, wear rate and percentage volume fraction of porosity. It was found that the optimized condition for spraying Al-12wt%Si powder consisted of 38 ft3/hr (1.026 m3/hr of oxygen flow rate, 27 ft3/hr (0.729 m3/hr of acetylene flow rate and 58 mm of spray distance.

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions

DEFF Research Database (Denmark)

Kirchhoff, Maria; Bisgaard, Anne-Marie; Bryndorf, Thue

2007-01-01

MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams...... referred with a clinical suspicion of a specific syndrome, which was confirmed in 17 patients (21.3%). The remaining 90 patients were referred because of mental retardation and dysmorphism but without suspicion of a specific syndrome. Seven imbalances, including four duplications, were detected in these 90...

Influence of the UV Radiation on Rhodamine WT Fluorescence in Water Samples

OpenAIRE

, L. Kola; , P. Lazo

2016-01-01

The şuorescence ability of Rhodamine WT enables its using as artiŞcial tracer in the water system studies. The problem is dealt with in relation to applying Rhodamine WT (RhWT) to trace and determine water movements within the karstic system and underground waters. Rhodamine WT has been used as an artiŞcial tracer for the Şrst times in our country on Mali me Gropa system study (2002). UV radiation may induce photochemical decomposition of the dye which can cause large measurement errors on me...

A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.

Science.gov (United States)

Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Lee, Chen-Chi; Wang, Wayseen

2014-03-01

To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22-p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal translocation of t(8;12)(q24.3;p11.2). A 13-year-old girl was referred to the hospital because of autism, mental retardation, and difficulty in the self-care of her menstruation. Cytogenetic analysis revealed an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12) (q24.3;p11.2)dn. The girl manifested microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease, bilateral clinodactyly of the fifth fingers, bilateral pes cavus, learning difficulties, mental retardation, emotional instability, cognitive impairment, behavior problems, jumping-like gaits, and autistic spectrum disorder. aCGH was performed to evaluate genomic imbalance in this patient. aCGH analysis revealed a 1.37-Mb 12p11.22-p11.21 microdeletion or arr [hg 19] 12p11.22-p11.21 (30,645,008-32,014,774)×1 and a 367-kb 22q11.21 microduplication or arr [hg 19] 22q11.21 (18,657,470-19,024,306)×3. The 1.37-Mb 12p11.22-p11.21 microdeletion encompassed 26 genes including IPO8, CAPRIN2, and DDX11, and the 367-kb 22q11.21 microduplication encompassed 20 genes including USP18, DGCR6, PRODH, and DGCR2. An apparently balanced translocation may be in fact affected by concurrent deletion and duplication in two different chromosomal regions. Our presentation provides information on diagnostic phenotype of 12p11.22-p11.21 microdeletion and 22q11.2 microduplication. Copyright © 2014. Published by Elsevier B.V.

Technicolor dynamics corrections to Wt-barb coupling

International Nuclear Information System (INIS)

Yue Chongxing; Huang Jinshu; Lu Gongru; Yang Zhengtao

1998-01-01

The authors consider the contributions of new gauge bosons to Wt-barb coupling in one generation technicolor (OGTC) model and topcolor assisted multiscale technicolor (TOPCMTC) model. The authors find that the exchange of diagonal extended technicolor (ETC) gauge boson has no contribution to Wt-barb coupling. Using the LEP value of R b , the authors calculate the corrections to the CKM matrix element V tb which arise from the sideways ETC gauge boson in OGTC model and the sideways ETC gauge bosons and color exchange in TOPCMTC model. The authors find that the δV tb is significantly large for a certain set of the parameters of either OGTC model or TOPCMTC model which might be detected in the Fermilab Tevatron Run 3 experiments

The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.

Science.gov (United States)

Ha, Kyungsoo; Shen, Yiping; Graves, Tyler; Kim, Cheol-Hee; Kim, Hyung-Goo

2016-01-01

1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysmorphism, microcephaly, cardiac abnormalities, and cataracts. MECP2 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by intellectual disability, global developmental delay, and other neurological complications including late-onset seizures. Previously, these two different genetic syndromes have not been reported segregating independently in a same family. Here we describe two siblings carrying either a chromosome 1q21 microdeletion or a chromosome Xq28 duplication. Using a comparative genomic hybridization (CGH) array, we identified a 1.24 Mb heterozygous deletion at 1q21 resulting in the loss of 9 genes in a girl with learning disability, hypothyroidism, short stature, sensory integration disorder, and soft dysmorphic features including cupped ears and a unilateral ear pit. We also characterized a 508 kb Xq28 duplication encompassing MECP2 in her younger brother with hypotonia, poor speech, cognitive and motor impairment. The parental CGH and quantitative PCR (qPCR) analyses revealed that the 1q21 deletion in the elder sister is de novo , but the Xq28 duplication in the younger brother was originally inherited from the maternal grandmother through the mother, both of whom are asymptomatic carriers. RT-qPCR assays revealed that the affected brother has almost double the amount of MECP2 mRNA expression compared to other family members of both genders including maternal grandmother and mother who have the same Xq28 duplication with no phenotype. This suggests the X chromosome with an Xq28 duplication in the carrier females is preferentially silenced. From our understanding, this would be the first report showing the independent segregation of two genetically unrelated syndromes, 1q21 microdeletion and Xq28 duplication

Effect of microwave irradiation on hydrogen sorption properties of hand mixed MgH{sub 2} – 10 wt.% carbon fibers

Energy Technology Data Exchange (ETDEWEB)

Awad, A.S. [Université de Bordeaux, ICMCB-CNRS, 87 Avenue du Dr Schweitzer, F-33600 Pessac (France); LCPM/PR2N, Université Libanaise, Faculté des Sciences 2, 90656 Jdeidet El Matn (Lebanon); Nakhl, M.; Zakhour, M. [LCPM/PR2N, Université Libanaise, Faculté des Sciences 2, 90656 Jdeidet El Matn (Lebanon); Santos, S.F.; Souza, F.L. [Universidade Federal do ABC, Avenida dos Estados 5001, 09210-580 Santo André – SP (Brazil); Bobet, J.-L., E-mail: jean-louis.bobet@u-bordeaux.fr [Université de Bordeaux, ICMCB-CNRS, 87 Avenue du Dr Schweitzer, F-33600 Pessac (France)

2016-08-15

The effect of microwave (MW) irradiation on the hydrogen sorption properties of magnesium powder is explored in the present work. MgH{sub 2} – 10 wt.% CFs (CFs = Carbons Fibers) was prepared by hand mixing, dehydrogenated under microwave irradiation for 20 s and then hydrogenated/dehydrogenated at about 300 °C – 1 MPa and 330 °C–0.03 MPa to investigate the effect of microwave irradiation on the solid/gas sorption properties. It has to be noted that the hydrogen absorption capacity and sorption kinetics of the MgH{sub 2} – 10 wt.% CFs mixture increased after dehydriding under MW irradiation. The MgH{sub 2} – 10 wt.% CFs mixture dehydrogenated by microwave irradiation can absorb about 5.8 wt.% and 5.3 wt.% H at 330 and 300 °C, respectively, within 2 h while the as-prepared MgH{sub 2} – 10 wt.% CFs mixture absorb only 4.6 wt.% H within the same duration. It is also demonstrated that MgH{sub 2} – 10 wt.% CFs mixture dehydrogenated by microwave irradiation exhibited good hydrogen desorption properties and, as an example, a microwave irradiated sample could release 5.8 wt.% H within 1 h at 330 °C in comparison to the as-prepared MgH{sub 2} – 10 wt.% CFs mixture which desorbed 4.4 wt.% H within 3 h. Scanning electron microscopy (SEM) images revealed that the particle sizes of the MW dehydrogenated mixture decreased after several solid/gas sorption cycles. This contribute to the improvement of hydrogen storage properties of the microwaves dehydrogenated MgH{sub 2} – 10 wt.% CFs mixture. In addition, the hydrogenated MgH{sub 2} – 10 wt.% CFs mixture show reproducible and better microwave-assisted dehydriding reaction during second microwaves cycle. - Highlights: • Dehydriding reaction of MgH{sub 2} by microwave method. • Effect of microwaves treatment on the hydrogen sorption properties of Mg. • Effect of discontinuous microwaves irradiation.

15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes

DEFF Research Database (Denmark)

Forsingdal, A; Fejgin, Kim; Nielsen, Viggo

2016-01-01

The 15q13.3 microdeletion syndrome is caused by a 1.5-MB hemizygous microdeletion located on 15q13.3 affecting seven genes: FAN1; MTMR10; TRPM1; miR-211; KLF13; OTUD7A; and CHRNA7. The 15q13.3 microdeletion increases the risk of intellectual disability, epilepsy, autism spectrum disorder...

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

DEFF Research Database (Denmark)

Lal, Dennis; Reinthaler, Eva M; Altmüller, Janine

2013-01-01

Partial deletions of the gene encoding the neuronal splicing regulator RBFOX1 have been reported in a range of neurodevelopmental diseases, including idiopathic generalized epilepsy. The RBFOX1 protein and its homologues (RBFOX2 and RBFOX3) regulate alternative splicing of many neuronal transcripts...... involved in the homeostatic control of neuronal excitability. In this study, we explored if structural microdeletions and exonic sequence variations in RBFOX1, RBFOX2, RBFOX3 confer susceptibility to rolandic epilepsy (RE), a common idiopathic focal childhood epilepsy. By high-density SNP array screening...... that exon deletions and truncating mutations of RBFOX1 and RBFOX3 contribute to the genetic variance of partial and generalized idiopathic epilepsy syndromes....

Isolating $Wt$ production at the LHC

CERN Document Server

White, Chris D; Laenen, Eric; Maltoni, Fabio

2009-01-01

We address the issue of single top production in association with a W boson at the Large Hadron Collider, in particular how to obtain an accurate description in the face of the top pair production background given that the two processes interfere with each other. We stress the advantages of an MC@NLO description, and find that for cuts used to isolate the signal, it makes sense to consider Wt as a well-defined production process in that the interference with top pair production is small, and the cross-section of the former is above the scale variation uncertainty associated with the latter. We also consider the case where both Wt and top pair production are backgrounds to a third process (Higgs boson production followed by decay to a W boson pair), and find in this context that interference issues can also be neglected. We discuss the generalization of our results to other situations, aided by a comparison between the MC@NLO approach and a calculation of the WWbb final state matched to a parton shower.

On the use of rhodamine WT for the characterization of stream hydrodynamics and transient storage

Science.gov (United States)

Runkel, Robert L.

2015-01-01

Recent advances in fluorometry have led to increased use of rhodamine WT as a tracer in streams and rivers. In light of this increased use, a review of the dye's behavior in freshwater systems is presented. Studies in the groundwater literature indicate that rhodamine WT is transported nonconservatively, with sorption removing substantial amounts of tracer mass. Column studies document a two-step breakthrough curve in which two structural isomers are chromatographically separated. Although the potential for nonconservative transport is acknowledged in the surface water literature, many studies assume that sorptive losses will not affect the characterization of physical transport processes. A literature review and modeling analysis indicates that this assumption is valid for quantification of physical properties that are based on the bulk of the tracer mass (traveltime), and invalid for the characterization of processes represented by the tracer tail (transient storage attributable to hyporheic exchange). Rhodamine WT should be considered nonconservative in the hyporheic zone due to nonconservative behavior demonstrated for similar conditions in groundwater. As such, rhodamine WT should not be used as a quantitative tracer in hyporheic zone investigations, including the study of long flow paths and the development of models describing hyporheic zone processes. Rhodamine WT may be used to qualitatively characterize storage in large systems, where there are few practical alternatives. Qualitative investigations should rely on early portions of the tracer profile, making use of the temporal resolution afforded by in situ fluorometry, while discarding later parts of the tracer profile that are adversely affected by sorption.

On the synthesis and characterization of some new AB{sub 5} type MmNi{sub 4.3}Al{sub 0.3},Mn{sub 0.4}, LaNi{sub 5-{chi}}Si{sub {chi}} ({chi} = 0.1, 0.3, 0.5) and Mg-{chi} wt% CFMmNi{sub 5}-y wt% Si hydrogen storage materials

Energy Technology Data Exchange (ETDEWEB)

Srivistava, S.; Sai Raman, S.S.; Singh, B.K.; Srivistava, O.N. [Banaras Hindu Univ., Varanasi (India). Dept. of Physics

2000-05-01

The viability and feasibility of Hydrogen Energy becoming the clean alternative to Fossil Fuel Energy through replacement of 'Fossil Fuel' with 'Hydrogen' (the Green Fuel) is inextricably interlinked with development of 'Hydrogen Storage Systems'. Out of the high pressure gaseous hydrogen, liquid hydrogen, storage in glass microspheres, activated carbon, zeolites, hydrogen rich liquids and solid state hydrides, the last option is of implicit importance. Out of the AB (e.g., FeTi, storage capacity -- 1.75 wt%), AB{sub 2} or A{sub 2}B (Mg{sub 2}Ni -- 3.8 wt%), AB{sub 5} (LaNi{sub 5}, MmN{sub 5} -- 1.5 wt%) and K{sub 2} PtCl{sub 6} type (Mg{sub 2}FeH{sub 6} -- 5.2 wt%); the AB{sub 5} type holds potential promise due to easy activation, tolerance to impurities of charging H{sub 2} gas and avid amenability towards material tailoring for improved and better hydrogenation characteristics. We have carried out synthesis, characterization of several of the AB{sub 5} type storage materials. The present paper is aimed at describing and discussing some of our more recent efforts in regard to this. In the present study the hydrogen storage material (MH) has been synthesized through normal casting (Radio Frequency (RF) induction melting) and melt-spinning techniques. The improvements in basic alloys LaNi{sub 5}/MmNi{sub 5} have been studied through structural, microstructural and hydrogenation characteristics. The main features revealed by XRD characterizations are the existence of the free Ni and Si together with AB{sub 5} material in melt-spun alloy of LaNi{sub 5-{chi}}Si{sub {chi}}. These free Ni and Si were found to disappear, giving rise to a singular material after hydrogenation. Also in melt-spun alloy growth has taken place in a direction perpendicular to the c-axis. Melt-spun version was found to be superior over bulk version in regard to kinetics and activation process. For MmNi{sub 4.3}AlO{sub 3}Mn{sub 0.4} alloy, melt-spun version has

Thermal and pseudoelastic cycling in Cu-14.1Al-4.2Ni (wt%) single crystals

International Nuclear Information System (INIS)

Gastien, R.; Corbellani, C.E.; Sade, M.; Lovey, F.C.

2005-01-01

Thermally and stress induced martensitic transformations between β and a mixture of martensitic structures, β' and γ', were studied in Cu-14.1Al-4.2Ni (wt%) single crystals. In this way information on the relative stability between β' and γ' martensites, compared to the β phase, was obtained. The measurement of electrical resistance as a function of temperature was used to follow the evolution of thermally induced transitions. The stress induced transformations were analyzed in the small temperature range at which the pseudoelastic behavior between β and a mixture of both martensites plays the main role. A clear inhibition of the γ' martensite is detected as the number of cycles increases, no matter which thermodynamic coordinate is varied to induce the phase transition, i.e., temperature or stress. An evaluation of the magnitude of the relative stabilization of the β' martensite compared with γ' was obtained by a suitably designed experiment

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.

Science.gov (United States)

Tsuchiya, Takayoshi; Shibata, Minoru; Numabe, Hironao; Jinno, Tomoko; Nakabayashi, Kazuhiko; Nishimura, Gen; Nagai, Toshiro; Ogata, Tsutomu; Fukami, Maki

2014-02-01

Haploinsufficiency of SHOX on the short arm pseudoautosomal region (PAR1) leads to Leri-Weill dyschondrosteosis (LWD), and nullizygosity of SHOX results in Langer mesomelic dysplasia (LMD). Molecular defects of LWD/LMD include various microdeletions in PAR1 that involve exons and/or the putative upstream or downstream enhancer regions of SHOX, as well as several intragenic mutations. Here, we report on a Japanese male infant with mild manifestations of LMD and hitherto unreported microdeletions in PAR1. Clinical analysis revealed mesomelic short stature with various radiological findings indicative of LMD. Molecular analyses identified compound heterozygous deletions, that is, a maternally inherited ∼46 kb deletion involving the upstream region and exons 1-5 of SHOX, and a paternally inherited ∼500 kb deletion started from a position ∼300 kb downstream from SHOX. In silico analysis revealed that the downstream deletion did not affect the known putative enhancer regions of SHOX, although it encompassed several non-coding elements which were well conserved among various species with SHOX orthologs. These results provide the possibility of the presence of a novel enhancer for SHOX in the genomic region ∼300 to ∼800 kb downstream of the start codon. © 2013 Wiley Periodicals, Inc.

Physical properties of monolithic U8 wt.%-Mo

Science.gov (United States)

Hengstler, R. M.; Beck, L.; Breitkreutz, H.; Jarousse, C.; Jungwirth, R.; Petry, W.; Schmid, W.; Schneider, J.; Wieschalla, N.

2010-07-01

As a possible high density fuel for research reactors, monolithic U8 wt.%-Mo ("U8Mo") was examined with regard to its structural, thermal and electric properties. X-ray diffraction by the Bragg-Brentano method was used to reveal the tetragonal lattice structure of rolled U8Mo. The specific heat capacity of cast U8Mo was determined by differential scanning calorimetry, its thermal diffusivity was measured by the laser flash method and its mass density by Archimedes' principle. From these results, the thermal conductivity of U8Mo in the temperature range from 40 °C to 250 °C was calculated; in the measured temperature range, it is in good accordance with literature data for UMo with 8 and 9 wt.% Mo, is higher than for 10 wt.% Mo and lower than for 5 wt.% Mo. The electric conductivity of rolled and cast U8Mo was measured by a four-wire method and the electron based part of the thermal conductivity calculated by the Wiedemann-Frantz law. Rolled and cast U8Mo was irradiated at about 150 °C with 80 MeV 127I ions to receive the same iodine ion density in the damage peak region as the fission product density in the fuel of a typical high flux reactor after the targeted nuclear burn-up. XRD analysis of irradiated U8Mo showed a change of the lattice parameters as well as the creation of UO 2 in the superficial sample regions; however, a phase change by irradiation was not observed. The determination of the electron based part of the thermal conductivity of the irradiated samples failed due to high measurement errors which are caused by the low thickness of the damage region in the ion irradiated samples.

The role of Ag precipitates in Cu-12 wt% Ag

Energy Technology Data Exchange (ETDEWEB)

Yao, D.W.; Song, L.N. [Department of Materials Science and Engineering, Zhejiang University, Zheda Road No.38, Hangzhou, Zhejiang 310027 (China); Dong, A.P.; Wang, L.T. [China Railway Construction Electrification Bureau Group Co.,Ltd., Beijing 100036 (China); Zhang, L. [School of Materials Science and Engineering, University of Science and Technology Beijing, Beijing 100083 (China); Meng, L., E-mail: mengliang@zju.edu.cn [Department of Materials Science and Engineering, Zhejiang University, Zheda Road No.38, Hangzhou, Zhejiang 310027 (China)

2012-12-15

The Cu-12 wt% Ag was prepared to investigate the role of Ag precipitates on the properties of the alloy. Two kinds of heat treatment procedures were adopted to produce different amount of Ag precipitates in the Cu-12 wt% Ag. The microstructure of Ag precipitates was systematically observed by optical microscopy and electron microscopy. The Cu-12 wt% Ag with more Ag precipitates exhibits higher strength and lower electrical conductivity. More Ag precipitates results in more phase interface and less Ag atoms dissolved in Cu matrix. By comparing the strengthening effect and electron scattering effect of phase interface and dissolved Ag atoms, it is conclude that the interface between Cu matrix and Ag precipitates could significantly block dislocation movement and enhance electron scattering in Cu-Ag alloys.

TRIGA high wt -% LEU fuel development program. Final report

International Nuclear Information System (INIS)

West, G.B.

1980-07-01

The principal purpose of this work was to investigate the characteristics of TRIGA fuel where the contained U-235 was in a relatively high weight percent (wt %) of LEU (low enriched uranium - enrichment of less than 20%) rather than a relatively low weight percent of HEU (high enriched uranium). Fuel with up to 45 wt % U was fabricated and found to be acceptable after metallurgical examinations, fission product retention tests and physical property examinations. Design and safety analysis studies also indicated acceptable prompt negative temperature coefficient and core lifetime characteristics for these fuels

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

Science.gov (United States)

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

2015-12-01

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

Coextrusion of 60 to 80 wt % U3O8 nuclear fuel elements

International Nuclear Information System (INIS)

Peacock, H.B.

1980-01-01

Aluminum-clad billets with up to 80 wt % U 3 O 8 in U 3 O 8 -Al cores have been coextruded at SRP. However, above 70 wt % U 3 O 8 , yields are low because of core-cracking. Proper selection of materials and extrusion parameters will give process conditions for successful fabrication. Studies were begun of the effects of these parameters on the flow of metal during coextrusion. In coextruded tubes, cracks are formed in large uranium oxide particles. Cracking is caused by the high tensile deformation of these particles that occurs as the cermet material flows through the die. Lower extrusion ratios and larger die angles appear to reduce severe particle cracking and increase fabrication yields. The particle size distribution of the ceramic fuel phase also influences fabricability. Six P/M assemblies with up to 57 wt % U 3 O 8 in U 3 O 8 -Al cores were successfully irradiated to 1.6 x 10 21 fissions per cm 3 of core. No swelling or blistering of the tubes occurred

Microdeletion in distal 17p13.1

DEFF Research Database (Denmark)

Zeesman, Susan; Kjaergaard, Susanne; Hove, Hanne Buciek

2012-01-01

Array comparative genomic hybridization has led to the identification of new syndromes by identifying genomic imbalances not detectable by standard karyotyping methods and by allowing correlations with physical findings. Deletions in the 17p13.1 region have been reported in patients with dysmorphic...

Clinical and Molecular Consequences of NF1 Microdeletion

Science.gov (United States)

2009-08-01

intriguing possibility that MLH1 deficiency predisposes to NF1 and early onset extracolonic tumors.[120,121] Germline heterozygous inactivating mutations...in MLH1 cause inefficient DNA mismatch repair, with the consequent increase in mutation frequency and susceptibility to hereditary nonpolyposis...colorectal cancer (reviewed in Ref. [122]). Two rare and independent cases of con- sanguineous marriages between MLH1 heterozygous first cousins each

Characterization and property evaluation of U–15 wt%Pu alloy for fast reactor

International Nuclear Information System (INIS)

Kaity, Santu; Banerjee, Joydipta; Ravi, K.; Keswani, R.; Kutty, T.R.G.; Kumar, Arun; Prasad, G.J.

2013-01-01

The characterization and high temperature behaviour of U–15 wt%Pu alloy has been investigated in this study for the first time. U–15 wt%Pu alloy sample for this study was prepared by following melting and casting route. Microstructural characterization of the alloy was carried out by XRD and optical microscopy. The thermophysical properties like phase transition temperatures, coefficient of thermal expansion and hot hardness of the above alloy were determined. Eutectic temperature between T91 and U–15 wt%Pu was established. Apart from that, the fuel–cladding chemical compatibility of U–15 wt%Pu alloy with T91 grade steel was studied by diffusion couple experiment

A de novo microdeletion involving PAFAH1B (LIS1 related to lissencephaly phenotype

Directory of Open Access Journals (Sweden)

Keiko Shimojima

2015-09-01

Full Text Available Lissencephaly is a type of the congenital malformation of the brain. Due to the impairments of neuronal migration, patients show absence of brain convolution manifesting smooth brain surfaces. One of the human genes responsible for lissencephaly is the platelet-activating factor acetylhydrolase 1b gene (PAFAH1B; also known as LIS1 located on 17p13.3. Patients with heterozygous deletion of this chromosomal region exhibit lissencephaly. Recently, we encountered a male patient who showed typical lissencephaly. Using a microarray analysis, we identified a 1.3 Mb submicroscopic deletion in 17p13.3. This deletion included PAFAH1B. Both of the parents showed no deletion in this region. Therefore, this was determined to be derived from de novo origin. After obtaining the written informed consent, skin fibroblasts were provided from this patient and disease-specific induced pluripotent stem (iPS cells were generated and used for medical research (Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, and Yamamoto T. CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. Genomics, in press.

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

Directory of Open Access Journals (Sweden)

Tomaiuolo Anna

2011-04-01

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

Effects of Ion Bombardment and Heat Treatment on Surface Topography and Hardeniability of The Cu-1.5 wt.% Sb Alloy

International Nuclear Information System (INIS)

Habib, S.K.; Rizk, A.; Saad, J.; Soliman, H.N.; Fayek, S.A.

2010-01-01

Specimens of the Cu-1.5 wt.% Sb alloy were prepared and subjected to different heat treatments to obtain specimens with different grain diameters. These were sputtered separately in argon glow discharge using a de magnetron sputtering system. Scanning electron microscopy was used for examining surface topography while EDS for determination of the elemental composition. The hardness of the specimens under investigation was measured under different conditions of testing. The results showed that both hardness and surface topography of the given alloy are greatly affected by grain diameter and sputtering time.

Disease: H01525 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H01525 22q11.2 deletion syndrome; DiGeorge/ Velo-Cardio-Facial syndrome; CATCH22 The 22q11.2 deletion... syndrome is the most common microdeletion disorder with an estimated prevalence of 1 in ...3000-6000 live births. Most of the patients show the common 3 Mb deletion, but proximal 1.5 Mb deletion and unusual deletion...Various syndromes have been associated with 22q11.2 deletion including DiGeorge syndrome (DGS), velocardiofa...cular malformation. Microdeletions of 22q11.2 have been found in more than 90% of

Characteristics and corrosion studies of vanadate conversion coating formed on Mg–14 wt%Li–1 wt%Al–0.1 wt%Ce alloy

International Nuclear Information System (INIS)

Ma Yibin; Li Ning; Li Deyu; Zhang Milin; Huang Xiaomei

2012-01-01

Highlights: ► Vanadate film forms on the surface of Mg–Li–Al–Ce alloy. ► Vanadate coating improves the corrosion resistance. ► Vanadate coating is composed of Mg(OH) 2 , Li 2 O and V 2 O 5 . - Abstract: Mg–14Li–1Al–0.1Ce alloy is immersed in NH 4 VO 3 + K 3 (Fe(CN) 6 ) solutions with different NH 4 VO 3 and/or K 3 (Fe(CN) 6 ) concentrations, and different immersion time. The surface morphology and composition of the vanadate coating are then characterized by scanning electron microscopy with energy dispersion spectroscopy (SEM-EDS) and X-ray photoelectron spectroscopy (XPS), and the corrosion behavior of the conversion coating is studied by polarization technique and electrochemical impedance spectroscopy (EIS). The experimental results indicate that the vanadate film with better corrosion resistance forms on Mg–Li–Al–Ce surface after the sample is immersed in 30 g L −1 NH 4 VO 3 + 3.75 g L −1 K 3 (Fe(CN) 6 ) solution at 80 °C for 10 min. The coating consists of V 2 O 5 , Li 2 O and Mg(OH) 2 .

Ordering and reaccomodation processes for defects in Fe-6.5wt.% Si and its influence on magnetic properties

International Nuclear Information System (INIS)

Cano, J.A; Lambri, O.A; Perez-Landazabal, J.I; Recarte, V

2004-01-01

Mechanical spectroscopy (MS) and magnetic hysteresis measurements were carried out in order to thoroughly study the effects of the order and reactions of the super dislocations in commercial alloys of Fe-6.5wt.% Si and Fe-3wt% Si with GOSS [110] texture during 1 hour, in a high vacuum, followed by tempering in water. The test pieces that were measured came from cut sheets provided by NKK Corp. The deadening and elastic module measurements were done with an inverted torsion pendulum, inside of which a 10 -5 Pa vacuum was made, expressed as a function of the temperature, and reaching three different final values: 973K, 1050K and 1273K. The magnetic measurements were carried out with an electromagnetic system that traced the hysteresis cycles. The behavior of deadening and the elastic module spectrum in Fe-6.5wt% Si is controlled by the relationship between the maximum temperature reached in the pendulum and the order-disorder transformation temperature. This dependence does not appear in the Fe-3wt% Si with GOSS [110] texture. The quenching defects recovery effects in Fe-3wt% Si are less than for the Fe-6.5wt% Si because of the absence of super dislocations and anti phase borders (APB) (CW)

Effect of graphenenano-platelets on the mechanical properties of Mg/3wt%Al alloy-nanocomposite

Science.gov (United States)

Kumar, Pravir; Kujur, MilliSuchita; Mallick, Ashis; Sandar Tun, Khin; Gupta, Manoj

2018-04-01

The bulk Mg/3%Al/0.1%GNP alloy-nano composite was fabricated using powder metallurgy route assisted with microwave sintering and followed by hot extrusion. The microstructural and Raman spectroscopy studies were performed to characterize the graphene nano-platelet(GNP).EDX tests confirmed the presence and the homogeneous distribution of Al and graphene nano-platelets in the magnesium alloy-nanocomposite. The addition of 3 wt% Al and 0.1wt%GNP to the Mg changed Vicker hardness, ultimate tensile strength and failure strain by +46.15%,+17.6% and -5% respectively. The fabricated composite offers higher resistance to the local deformation than monolithic Mg and Mg/3%Al alloy, revealed by the load/unload-indentation depth curve.

Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

Energy Technology Data Exchange (ETDEWEB)

Daack-Hirsch, S.; Basart, A.; Frischmeyer, P. [Univ. of Iowa, IA (United States)] [and others

1994-09-01

Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

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

Directory of Open Access Journals (Sweden)

Bejjani Bassem A

2009-01-01

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

Effects of Ce concentrations on ignition temperature and surface tension of Mg-9wt.%Al alloy

Directory of Open Access Journals (Sweden)

Deng Zhenghua

2013-03-01

Full Text Available Magnesium alloys are well known for their excellent properties, but the potential issues with oxidation and burning during melting and casting largely limit its industrial applications. The addition of Ce in magnesium alloys can significantly raise ignition-proof performance and change the structure of the oxide film on the surface of the molten metal as well as the surface tension values. Surface tension is an important physical parameter of the metal melts, and it plays an important role in the formation of surface oxide film. In this present work, the ignition temperature and the surface tension of Mg-9wt.%Al alloy with different Ce concentrations were studied. Surface tensions was measured using the maximum bubble pressure method (MBPM. Ignition temperature was measured using NiCr-NiSi type thermocouples and was monitored and recorded via a WXT-604 desk recording device. The results show that the ignition point of Mg-9wt.%Al alloy can be effectively elevated by adding Ce. The ignition temperature reaches its highest point of 720 ℃ when the addition of Ce is 1wt.%. The surface tension of the molten Mg-9wt.%Al alloy decreases exponentially with the increase of Ce addition at the same temperature. Similarly, the experiment also shows that the surface tension of Mg-9wt.%Al alloy decreases exponentially with the increase of temperature.

Characteristics and corrosion studies of vanadate conversion coating formed on Mg-14 wt%Li-1 wt%Al-0.1 wt%Ce alloy

Energy Technology Data Exchange (ETDEWEB)

Ma Yibin [School of Chemical Engineering and Technology, Harbin Institute of Technology, Harbin 150001 (China); Li Ning, E-mail: lininghit@263.net [School of Chemical Engineering and Technology, Harbin Institute of Technology, Harbin 150001 (China); Li Deyu [School of Chemical Engineering and Technology, Harbin Institute of Technology, Harbin 150001 (China); Zhang Milin; Huang Xiaomei [Key Laboratory of Superlight Materials and Surface Technology, Ministry of Education, Harbin Engineering University, Harbin 150001 (China)

2012-11-15

Highlights: Black-Right-Pointing-Pointer Vanadate film forms on the surface of Mg-Li-Al-Ce alloy. Black-Right-Pointing-Pointer Vanadate coating improves the corrosion resistance. Black-Right-Pointing-Pointer Vanadate coating is composed of Mg(OH){sub 2}, Li{sub 2}O and V{sub 2}O{sub 5}. - Abstract: Mg-14Li-1Al-0.1Ce alloy is immersed in NH{sub 4}VO{sub 3} + K{sub 3}(Fe(CN){sub 6}) solutions with different NH{sub 4}VO{sub 3} and/or K{sub 3}(Fe(CN){sub 6}) concentrations, and different immersion time. The surface morphology and composition of the vanadate coating are then characterized by scanning electron microscopy with energy dispersion spectroscopy (SEM-EDS) and X-ray photoelectron spectroscopy (XPS), and the corrosion behavior of the conversion coating is studied by polarization technique and electrochemical impedance spectroscopy (EIS). The experimental results indicate that the vanadate film with better corrosion resistance forms on Mg-Li-Al-Ce surface after the sample is immersed in 30 g L{sup -1} NH{sub 4}VO{sub 3} + 3.75 g L{sup -1} K{sub 3}(Fe(CN){sub 6}) solution at 80 Degree-Sign C for 10 min. The coating consists of V{sub 2}O{sub 5}, Li{sub 2}O and Mg(OH){sub 2}.

Mechanical, dynamical and thermodynamic properties of Al-3wt%Mg from first principles

Energy Technology Data Exchange (ETDEWEB)

Yang, Rong [Chongqing Jiaotong Univ., Chongqing (China). College of Materials Science and Engineering; Tang, Bin [Chongqing City Management College, Chongqing (China). Inst. of Finance and Trade; Gao, Tao [Sichuan Univ., Chengdu (China). Inst. of Atomic and Molecular Physics

2017-09-01

The mechanical, dynamical and thermodynamic properties of Al-3wt%Mg have been investigated using the first-principles method. The calculated structural parameter is in good agreement with previous works. Results for the elastic modulus, stress-strain relationships, ideal tensile and shear strengths are presented. Al-3wt%Mg is found to have larger moduli and higher strengths than Al, which is consistent with its exploitation in Al precipitate-hardening mechanisms. The partial density of states (PDOS) show that the partly covalent-like bonding through Al p-Mg s hybridization is the origin of excellent mechanical properties of Al-3wt%Mg. The phonon dispersion curves indicate that Al-3wt%Mg is dynamically stable at ambient pressure and 0 K. Furthermore, the Helmholtz free energy ΔF, the entropy S, the constant-volume specific heat C{sub V} and the phonon contribution to the internal energy ΔE are predicted using the phonon density of states. We expect that our work can provide useful guidance to help with the performance of Al-3wt%Mg.

Mechanical, dynamical and thermodynamic properties of Al-3wt%Mg from first principles

International Nuclear Information System (INIS)

Yang, Rong; Tang, Bin; Gao, Tao

2017-01-01

The mechanical, dynamical and thermodynamic properties of Al-3wt%Mg have been investigated using the first-principles method. The calculated structural parameter is in good agreement with previous works. Results for the elastic modulus, stress-strain relationships, ideal tensile and shear strengths are presented. Al-3wt%Mg is found to have larger moduli and higher strengths than Al, which is consistent with its exploitation in Al precipitate-hardening mechanisms. The partial density of states (PDOS) show that the partly covalent-like bonding through Al p-Mg s hybridization is the origin of excellent mechanical properties of Al-3wt%Mg. The phonon dispersion curves indicate that Al-3wt%Mg is dynamically stable at ambient pressure and 0 K. Furthermore, the Helmholtz free energy ΔF, the entropy S, the constant-volume specific heat C_V and the phonon contribution to the internal energy ΔE are predicted using the phonon density of states. We expect that our work can provide useful guidance to help with the performance of Al-3wt%Mg.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Science.gov (United States)

Mullegama, Sureni V; Rosenfeld, Jill A; Orellana, Carmen; van Bon, Bregje W M; Halbach, Sara; Repnikova, Elena A; Brick, Lauren; Li, Chumei; Dupuis, Lucie; Rosello, Monica; Aradhya, Swaroop; Stavropoulos, D James; Manickam, Kandamurugu; Mitchell, Elyse; Hodge, Jennelle C; Talkowski, Michael E; Gusella, James F; Keller, Kory; Zonana, Jonathan; Schwartz, Stuart; Pyatt, Robert E; Waggoner, Darrel J; Shaffer, Lisa G; Lin, Angela E; de Vries, Bert B A; Mendoza-Londono, Roberto; Elsea, Sarah H

2014-01-01

Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. We hypothesize that the chromosome 2q23.1 region encompassing MBD5 is a dosage-dependent region, wherein deletion or duplication results in altered gene dosage. We previously established the 2q23.1 microdeletion syndrome and report herein 23 individuals with 2q23.1 duplications, thus establishing a complementary duplication syndrome. The observed phenotype includes ID, language impairments, infantile hypotonia and gross motor delay, behavioral problems, autistic features, dysmorphic facial features (pinnae anomalies, arched eyebrows, prominent nose, small chin, thin upper lip), and minor digital anomalies (fifth finger clinodactyly and large broad first toe). The microduplication size varies among all cases and ranges from 68 kb to 53.7 Mb, encompassing a region that includes MBD5, an important factor in methylation patterning and epigenetic regulation. We previously reported that haploinsufficiency of MBD5 is the primary causal factor in 2q23.1 microdeletion syndrome and that mutations in MBD5 are associated with autism. In this study, we demonstrate that MBD5 is the only gene in common among all duplication cases and that overexpression of MBD5 is likely responsible for the core clinical features present in 2q23.1 microduplication syndrome. Phenotypic analyses suggest that 2q23.1 duplication results in a slightly less severe phenotype than the reciprocal deletion. The features associated with a deletion, mutation or duplication of MBD5 and the gene expression changes observed support MBD5 as a dosage-sensitive gene critical for normal development.

Influence of ZnO nano-particles addition on thermal analysis, microstructure evolution and tensile behavior of Sn–5.0 wt% Sb–0.5 wt% Cu lead-free solder alloy

Energy Technology Data Exchange (ETDEWEB)

Fouda, A.N., E-mail: alynabieh@yahoo.com [Physics Department, Faculty of Science, Suez-Canal University, 41522 Ismailia (Egypt); Eid, E.A., E-mail: dr_eid_hti@yahoo.com [Basic Science Department, Higher Technological Institute, 44629 10th of Ramadan City (Egypt)

2015-04-24

Sn–5 wt%Sb–0.5 wt%Cu (plain SSC505) and Sn–5 wt%Sb–0.5 wt%Cu–0.5 wt% ZnO (SSC-ZnO) composite solder alloys have been studied. The variation in thermal behavior, microstructure and tensile characteristics associated with mixing of 0.5 wt% ZnO nano-metric particles to plain SSC505 solder were investigated. A slight increment in the melting temperature [ΔT{sub m}=0.89 °C] was recorded using differential scanning calorimetry (DSC) after addition of ZnO. X-Ray diffraction (XRD) analysis confirmed the existence of β-Sn, SbSn and Cu{sub 6}Sn{sub 5} intermetallic compounds (IMCs) beside some of ZnO planes in SSC-ZnO composite solder. Field emission scanning electronic microscope (FE-SEM) investigation of SSC-ZnO composite solder revealed a homogenous uniform distribution, size refinement of IMCs and β-Sn grains. Addition of ZnO nano-metric particles into the plain SSC505 enhanced the yield stress σ{sub YS} by ~12% and improved the ultimate tensile strength σ{sub UTS} by ~13%. In addition, adding ZnO nano-metric particles was found to be effective for reducing ductility by ~43% of the plain solder due to the refinement of β-Sn grains within SSC-ZnO composite solder. - Highlights: • Melting point of SSC505-ZnO composite solder is slightly increased by 0.89 {sup ο}C compared with the plain SSC505 solder. • XRD and EDX analysis reflect the presence of SbSn, Cu{sub 6}Sn{sub 5} IMCs. • EF-SEM images of SSC-ZnO composite solder revealed homogenous uniform distribution of β-Sn grains and fine IMC particles. • A detectable improvement in the Young modulus, ultimate tensile strength and yield strength were observed after addition of 0.5 wt% ZnO nano-metric particles.

Effect of La addition on the microstructure and mechanical properties of Mg–6 wt% Zn alloys

Energy Technology Data Exchange (ETDEWEB)

Du, Yuzhou, E-mail: duyuzhou@xaut.edu.cn [School of Materials Science and Engineering, Xi' an University of Technology, Xi' an 710048 (China); School of Materials Science and Engineering, Harbin Institute of Technology, Harbin 150001 (China); Zheng, Mingyi, E-mail: zhenghe@hit.edu.cn [School of Materials Science and Engineering, Harbin Institute of Technology, Harbin 150001 (China); Qiao, Xiaoguang [School of Materials Science and Engineering, Harbin Institute of Technology, Harbin 150001 (China); Peng, Wenqiang [Institute of Chemical Materials, China Academy of Engineering Physics, Mianyang 621999 (China); Jiang, Bailing [School of Materials Science and Engineering, Xi' an University of Technology, Xi' an 710048 (China)

2016-09-15

The Mg–6 wt% Zn alloys microalloyed with different amounts of La were cast and extruded. The second phase in the as-cast Mg–Zn alloy is Mg{sub 4}Zn{sub 7}, which was replaced by Mg–Zn–La intermetallics with orthorhombic structure after La addition. Microalloying with La refined the grain size of dynamic recrystallization slightly, which was due to La solute atom in α-Mg alloy. Addition of La weakened the texture and gave rise to the formation of non-basal texture component, attributing to the existence of La in the form of solute atoms in matrix. The ductility was enhanced significantly by adding La to Mg–6 wt% Zn alloy, while the strength was reduced. Such phenomenon was related to the weakening texture of the La containing alloys. The Mg–6Zn–0.2La (wt%) alloy exhibited a superior ductility with the elongation-to-fracture up to 35%. However, with further increasing of La content to 1 wt%, the strength of the as-extruded Mg–Zn–La alloys was not improved but the ductility was reduced, suggesting that small addition of La is preferred for the improvement of mechanical properties.

Effect of Heat Treatments on Microstructures and Tensile Properties of Cu-3 wt%Ag-0.5 wt%Zr Alloy

Science.gov (United States)

Chen, Gang; Wang, ChuanJie; Zhang, Ying; Yi, Cen; Zhang, Peng

2018-03-01

The microstructures and tensile properties of Cu-3 wt%Ag-0.5 wt%Zr alloy sheets under different aging treatments are investigated in this research. As one kind of precipitate, Ag nanoparticles with coherent orientation relationship with matrix precipitate. However, after the peak-age point, most of Ag nanoparticles grow into short rod shape with the interface translating to semi-coherent, which leads to the lower strength of over-aging sample. The yield strength is estimated by considering solid solute, grain boundary and precipitation strengthening mechanisms. The result shows that the Ag precipitates provide the main strengthening role. Then a constitutive equation representing the evolution of dislocation density with plastic strain is built by considering work-hardening behavior coming from shearable and non-shearable precipitates which is mainly the particles containing Zr. The flow stress contributed by shearable particle hardening is higher than that of non-shearable one. Due to the coarsening of grain boundary precipitates and low rate of damage accumulation of these non-shearable particles, the micro-cracks nucleate easily at grain boundary which leads to intergranular fracture.

Study of uranium - 20 Wt per cent plutonium-niobium alloys (1963)

International Nuclear Information System (INIS)

Abgrall, J.; Barthelemy, P.; Boucher, R.

1963-01-01

U-Pu-Nb alloys containing 20 wt per cent Pu and 10 - 20 - 30 - 40 - 50 or 60 wt per cent Nb have been studied principally to determine the feasibility of their use as fuel element. The fabrication, casting and homogenisation presented certain difficulties due specially to niobium. The transformation temperatures, thermal expansion coefficients and nature of phases have been determined by thermal analysis, dilatometry, micrography and X Rays diffraction. For similar compositions, U-Pu-Mo and U-Pu-Nb alloys have many common points concerning the presence of zeta phase (up to 40 wt per cent Nb), the coefficients of expansion, the good behaviour during thermal cycling and the good resistance to air oxidation in spite of zeta phase. In consequence, irradiation tests in EL 3 reactor (Saclay) will be carried out in the near future. (authors) [fr

Hardness and microstructural characteristics of rapidly solidified Al-8-16 wt.%Si alloys

International Nuclear Information System (INIS)

Uzun, O.; Karaaslan, T.; Gogebakan, M.; Keskin, M.

2004-01-01

Al-Si alloys with nominal composition of Al-8 wt.%Si, Al-12 wt.%Si, and Al-16 wt.%Si were rapidly solidified by using melt-spinning technique to examine the influence of the cooling rate/conditions on microstructure and mechanical properties. The microstructures of the rapidly solidified ribbons and ingot samples were investigated by the optical microscopy, electron microscopy and X-ray diffraction (XRD) techniques. The results showed that the structures of all melt-spun ribbons were completely composed of finely dispersed α-Al and eutectic Si phase, and primary silicon was not observed. The XRD analysis indicated that the solubility of Si in the α-Al matrix was greatly increased with rapid solidification. Additionally, mechanical properties of both conventionally cast (ingot) and melt-spun ribbons were examined by using Vickers indenter for one applied load (0.098 N). The hardness values of the melt-spun ribbons were about three times higher than those of ingot counterparts. The high hardness of the rapidly solidified state can be attributed to the supersaturated solid solutions. Besides, hardness values with different applied loads were measured for melt-spun ribbons. The results indicated that Vickers hardness values (H v ) of the ribbons depended on the applied load. Applying the concept of Hays-Kendall, the load independent hardness values were calculated as 694.0, 982.8 and 1186.8 MN/m 2 for Al-8 wt.%Si, Al-12 wt.%Si and Al-16 wt.%Si, respectively

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

Science.gov (United States)

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

2011-06-01

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

Slit-burst testing of cold-worked Zr-2.5 wt.% Nb pressure tubing for CANDU-PHW reactors

International Nuclear Information System (INIS)

Wilkins, B.J.S.; Barrie, J.N.; Zink, R.J.

1978-12-01

This report documents the available data on critical crack length of cold-worked Zr-2.5 wt.% Nb pressure tubing in CANDU reactors. In particular, it includes data for tubing removed from the Pickering 3 and 4 reactors. (author)

Tests of rhodamine WT dye for toxicity to oysters and fish

Science.gov (United States)

Parker, Garald G.

1973-01-01

Because of the toxicity to oyster larvae and eggs of rhodamine B dye in concentrations greater than 1 mg/l in earlier tests, there was a concern that rhodamine WT, a similar tracer dye, would have a detrimental effect on marine life being developed under the aquaculture program of the Lummi Indian Tribe near Bellingham, Wash. Tests showed that 48-hour exposures at 24° C of 11,000 oyster eggs per liter and 6,000 12-day-old larvae per liter, in sea water with concentrations of rhodamine WT ranging from 1 μg/l to 10 mg/l, resulted in development of the eggs to normal straight-hinge larvae and no abnormalities in the larvae development. Tests made on the smolt of both silver salmon and Donaldson trout, with the fish held for 17.5 hours in a tankfull of sea water with a dye concentration of 10 mg/l at 22°C showed no mortalities or respiratory problems. With the concentration increased to 375 mg/l, and the time extended an additional 3.2 hours, still no mortalities or abnormalities were noted. The fish remained healthy in dye-free water when last checked a month after the test.

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Science.gov (United States)

Benko, Sabina; Fantes, Judy A; Amiel, Jeanne; Kleinjan, Dirk-Jan; Thomas, Sophie; Ramsay, Jacqueline; Jamshidi, Negar; Essafi, Abdelkader; Heaney, Simon; Gordon, Christopher T; McBride, David; Golzio, Christelle; Fisher, Malcolm; Perry, Paul; Abadie, Véronique; Ayuso, Carmen; Holder-Espinasse, Muriel; Kilpatrick, Nicky; Lees, Melissa M; Picard, Arnaud; Temple, I Karen; Thomas, Paul; Vazquez, Marie-Paule; Vekemans, Michel; Roest Crollius, Hugues; Hastie, Nicholas D; Munnich, Arnold; Etchevers, Heather C; Pelet, Anna; Farlie, Peter G; Fitzpatrick, David R; Lyonnet, Stanislas

2009-03-01

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a clustering of translocation breakpoints 1.06-1.23 Mb upstream of SOX9, and microdeletions both approximately 1.5 Mb centromeric and approximately 1.5 Mb telomeric of SOX9. We have also identified a heterozygous point mutation in an evolutionarily conserved region of DNA with in vitro and in vivo features of a developmental enhancer. This enhancer is centromeric to the breakpoint cluster and maps within one of the microdeletion regions. The mutation abrogates the in vitro enhancer function and alters binding of the transcription factor MSX1 as compared to the wild-type sequence. In the developing mouse mandible, the 3-Mb region bounded by the microdeletions shows a regionally specific chromatin decompaction in cells expressing Sox9. Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements.

Gravity and magnetic data across the Ghost Dance Fault in WT-2 Wash, Yucca Mountain, Nevada

International Nuclear Information System (INIS)

Oliver, H.W.; Sikora, R.F.

1994-01-01

Detailed gravity and ground magnetic data were obtained in September 1993 along a 4,650 ft-long profile across the Ghost Dance Fault system in WT-2 Wash. Gravity stations were established every 150 feet along the profile. Total-field magnetic measurements made initially every 50 ft along the profile, then remade every 20 ft through the fault zone. These new data are part of a geologic and geophysical study of the Ghost Dance Fault (GDF) which includes detailed geologic mapping, seismic reflection, and some drilling including geologic and geophysical logging. The Ghost Dance Fault is the only through-going fault that has been identified within the potential repository for high-level radioactive waste at Yucca Mountain, Nevada. Preliminary gravity results show a distinct decrease of 0.1 to 0.2 mGal over a 600-ft-wide zone to the east of and including the mapped fault. The gravity decrease probably marks a zone of brecciation. Another fault-offset located about 2,000 ft to the east of the GDF was detected by seismic reflection data and is also marked by a distinct gravity low. The ground magnetic data show a 200-ft-wide magnetic low of about 400 nT centered about 100 ft east of the Ghost Dance Fault. The magnetic low probably marks a zone of brecciation within the normally polarized Topopah Spring Tuff, the top of which is about 170 ft below the surface, and which is known from drilling to extend to a depth of about 1,700 ft. Three-component magnetometer logging in drill hole WT-2 located about 2,700 ft east of the Ghost Dance Fault shows that the Topopah Spring Tuff is strongly polarized magnetically in this area, so that fault brecciation of a vertical zone within the Tuff could provide an average negative magnetic contrast of the 4 Am -1 needed to produce the 400 nT low observed at the surface

The study of microplasticity mechanism in Ti-50 wt.%Nb alloy with high hydrogen content

International Nuclear Information System (INIS)

Golovin, I.S.; Kollerov, M.U.; Schinaeva, E.V.

1996-01-01

The upper yield point (∼ 700 MPa) appears at the compression test curves (ε=0.024 sec -1 ) of b.c.c. Nb-50 wt.%Ti due to the increase of hydrogen content from 0 to 0.2 wt.% and more and leads to the non monotonous increase in compressive lower yield stress from 400 to 550 MPa. Taking into account close connection between macro- and microplasticity of metallic materials the low frequency (∼ 2 Hz) amplitude dependent internal friction (ADIF) spectrum (γ = 1. 60.10 -5 ) in hydrogenized Nb-50 wt.% Ti and Nb samples are studied. The ADIF investigation of the closed hysteresis loop ''loading-unloading'' shows the dependence of its width from the hydrogen content which evidences the fact of dislocation unpinning from hydrogen atmospheres in the 1/2 cycle of loading. The study of ADIF spectrum for samples with different hydrogen content before and after torsion deformation (γ ∼ 2%) shows the sharp increase of IF level at γ = 1. 10.10 -5 after ∼1 hour of natural ageing. At that time the ADIF curves change its shape from Γ-shape to U-shape. The amplitude range of the IF increase depends on the hydrogen content. It is the interaction of hydrogen atoms with dislocations that caused the above mentioned effect which has not been observed in hydrogen free samples. The time estimation for the formation of thermodynamically stable hydrogen atmospheres on dislocations shows that hydrogen atmospheres could not follow the dislocation during compressive tests and that leads to the upper yield point appearance. (orig.)

Mechanism of nanostructure formation in ball-milled Cu and Cu–3wt%Zn studied by X-ray diffraction line profile analysis

International Nuclear Information System (INIS)

Khoshkhoo, M. Samadi; Scudino, S.; Bednarcik, J.; Kauffmann, A.; Bahmanpour, H.; Freudenberger, J.; Scattergood, R.; Zehetbauer, M.J.; Koch, C.C.; Eckert, J.

2014-01-01

Highlights: • Nanostructured powders of Cu and Cu–3wt%Zn were produced using ball milling. • During cryomilling, nanostructure was formed by structural decomposition. • Dynamic recrystallization happened in room–temperature milling of Cu–3wt%Zn. • Structural decomposition took place during room–temperature milling of Cu. -- Abstract: The mechanism of nanostructure formation during cryogenic and room-temperature milling of Cu and Cu–3wt%Zn was investigated using X-ray diffraction line profile analysis. For that, the whole powder pattern modeling approach (WPPM) was used to analyze the evolution of microstructural features including coherently scattering domain size, dislocation density, and density of planar faults. It was found that for all sets of experiments, structural decomposition is the dominant mechanism of nanostructure formation during cryomilling. During subsequent RT-milling, grain refinement still occurs by structural decomposition for pure copper. On the other hand, discontinuous dynamic recrystallization is responsible for nanostructure formation during RT-milling of Cu–3wt%Zn. This is attributed to lower stacking-fault energy of Cu–3wt%Zn compared to pure copper. Finally, room temperature milling reveals the occurrence of a detwinning phenomenon

Faults detection approach using PCA and SOM algorithm in PMSG-WT system

Directory of Open Access Journals (Sweden)

Mohamed Lamine FADDA

2016-07-01

Full Text Available In this paper, a new approach for faults detection in observable data system wind turbine - permanent magnet synchronous generator (WT-PMSG, the studying objective, illustrate the combination (SOM-PCA to build Multi-local-PCA models faults detection in system (WT-PMSG, the performance of the method suggested to faults detection in system data, finding good results in simulation experiment.

Study on the Mechanical Properties and Corrosion Behaviors of Fe-(20, 45) wt%Gd Intermetallics

Energy Technology Data Exchange (ETDEWEB)

Kang, Bo Kyeong; Baik, Youl; Choi, Yong [Dankook University, Chungnam (Korea, Republic of); Moon, Byung Moon [Korea Institute of Industrial Technology, Incheon (Korea, Republic of)

2017-02-15

Fe-(20, 45 wt%) Gd intermetallics were vacuum arc melted as the mother alloy of a neutron shielding and absorbing material. The structure of the cast Fe-20 wt%Gd intermetallics had primary dendrites with a short width of about 2 μm, which became coarse with increasing Gd content. The final compositions of the Fe-20 wt%Gd and Fe-45 wt%Gd intermetallics determined by Rietveld refinement were mainly Fe{sub 3}Gd with 26.6 at%Fe{sub 2}Gd, and Fe{sub 3}Gd with various intermetallics like 13.9 at%Fe{sub 2}Gd, 7.3 at%Fe{sub 9}Gd and 3.9 at%Fe{sub 17}Gd{sub 2}, respectively. The micro-hardnesses, yield strength, ultimate compressive strength and elongation of the Fe-20 wt%Gd intermetallics were 629±12 Hv, 753 MPa, 785 MPa and 4%, respectively, and those of the Fe-45 wt%Gd intermetallics were 741±13 Hv, 772 MPa, 823 MPa and 3%. Passivity was not present in artificial sea water at room temperature. The corrosion potentials and the corrosion rates of the Fe-20 wt%Gd and Fe-45 wt%Gd intermetallics were –624 mV{sub SHE}, 2.771 mA/cm{sup 2} , and –804 mV{sub SHE}, 3.397 mA/cm{sup 2} , respectively. The corroded surface of the Fe-Gd intermetallics contained corrosion products like gadolinium with iron, which detached to leave a trail of pits.

Fabrication and properties of strip casting 4.5 wt% Si steel thin sheet

Energy Technology Data Exchange (ETDEWEB)

Zu, Guoqing, E-mail: gz854@uowmail.edu.au [State Key Laboratory of Rolling and Automation, Northeastern University, Shenyang 110819 (China); School of Mechanical, Materials and Mechatronic Engineering, University of Wollongong, NSW 2522 (Australia); Zhang, Xiaoming [State Key Laboratory of Rolling and Automation, Northeastern University, Shenyang 110819 (China); Zhao, Jingwei [School of Mechanical, Materials and Mechatronic Engineering, University of Wollongong, NSW 2522 (Australia); Wang, Yuqian [State Key Laboratory of Rolling and Automation, Northeastern University, Shenyang 110819 (China); Yan, Yi [School of Mechanical, Materials and Mechatronic Engineering, University of Wollongong, NSW 2522 (Australia); Li, Chengang; Cao, Guangming [State Key Laboratory of Rolling and Automation, Northeastern University, Shenyang 110819 (China); Jiang, Zhengyi [School of Mechanical, Materials and Mechatronic Engineering, University of Wollongong, NSW 2522 (Australia)

2017-02-15

Three 4.5 wt% Si steel thin sheets with different thicknesses were efficiently fabricated by twin-roll strip casting, warm rolling and cold rolling followed by final annealing. A comprehensive investigation from the workability of the as-cast strip to the magnetic property of the produces was performed to illustrate the superiority of the new materials. The results show that the as-cast strip, which has a much lower Vickers hardness than that of the 6.5 wt% Si steel, is suitable for rolling processing. The X-ray diffraction (XRD) and transmission electron microscopy (TEM) studies confirm that no ordering phase exists in the as-cast strip. The cold-rolled thin sheets exhibit good surface quality without edge cracks. Furthermore, all the three 4.5 wt% Si steel thin sheets possess relative strong <100>//ND texture and present high magnetic inductions and low iron losses after finial annealing. - Highlights: • 4.5 wt% Si as-cast sheet with excellent workability was produced by strip casting. • Three 4.5 wt% Si thin sheets were effectively fabricated by warm and cold rolling. • The microstructure and macro-texture of the thin sheets were elucidated. • High magnetic inductions and low iron losses were achieved simultaneously.

SUSY WT identity in a lattice formulation of 2D N=(2,2) SYM

International Nuclear Information System (INIS)

Kadoh, Daisuke; Suzuki, Hiroshi

2010-01-01

We address some issues relating to a supersymmetric (SUSY) Ward-Takahashi (WT) identity in Sugino's lattice formulation of two-dimensional (2D) N=(2,2)SU(k) supersymmetric Yang-Mills theory (SYM). A perturbative argument shows that the SUSY WT identity in the continuum theory is reproduced in the continuum limit without any operator renormalization/mixing and tuning of lattice parameters. As application of the lattice SUSY WT identity, we show that a prescription for the Hamiltonian density in this lattice formulation, proposed by Kanamori, Sugino and Suzuki, is justified also from a perspective of an operator algebra among correctly-normalized supercurrents. We explicitly confirm the SUSY WT identity in the continuum limit to the first nontrivial order in a semi-perturbative expansion.

Role of polymorphic Fc receptor Fc gammaRIIa in cytokine release and adverse effects of murine IgG1 anti-CD3/T cell receptor antibody (WT31).

Science.gov (United States)

Tax, W J; Tamboer, W P; Jacobs, C W; Frenken, L A; Koene, R A

1997-01-15

Anti-CD3 monoclonal antibody (mAb) OKT3 is immunosuppressive, but causes severe adverse effects during the first administration ("first-dose reaction"). These adverse effects are presumably caused by cytokine release that results from T-cell activation. In vitro, T-cell activation by anti-CD3 mAb requires interaction with monocyte Fc receptors. The Fc receptor for murine IgG1, Fc gammaRIIa, is polymorphic. In some individuals, murine IgG1 anti-CD3 mAb causes T-cell proliferation and cytokine release in vitro (high responders [HR]), whereas in individuals with the low-responder (LR) phenotype it does not. We have now investigated the role of this Fc gammaRIIa polymorphism in the release of cytokines in vivo and the occurrence of adverse effects after the administration of WT31, a murine IgG1 anti-CD3/T cell receptor mAb. WT31 caused an increase of plasma tumor necrosis factor-alpha in all four HR patients and none of the five LR patients. In all HR patients except one, plasma gamma-interferon and interleukin 6 also increased, and a first-dose response was observed, whereas no cytokine release or adverse effects occurred in any of the LR patients. WT31 caused lymphopenia in all HR and none of the LR patients. FACS analysis demonstrated that in HR patients, after the initial disappearance of CD3+ cells from peripheral blood, modulation of CD3 occurred, whereas in LR patients a high degree of coating of the lymphocytes was observed. Surprisingly, WT31 also induced a marked granulocytopenia, as well as a decrease of thrombocytes, in three of the four HR patients (and in none of the LR patients). These data provide direct clinical evidence that Fc receptor interaction determines the release of cytokines and the occurrence of adverse effects after administration of anti-CD3/T cell receptor mAb. Furthermore, these data suggest that tumor necrosis factor-alpha by itself is not sufficient to induce the first-dose reaction.

Room Temperature Mechanical Properties of A356 Alloy with Ni Additions from 0.5 Wt to 2 Wt %

Directory of Open Access Journals (Sweden)

Lucia Lattanzi

2018-03-01

Full Text Available In recent years, the influence of Ni on high-temperature mechanical properties of casting Al alloys has been extensively examined in the literature. In the present study, room temperature mechanical properties of an A356 alloy with Ni additions from 0.5 to 2 wt % were investigated. The role of Ni-based compounds and eutectic Si particles in reinforcing the Al matrix was studied with image analysis and was then related to tensile properties and microhardness. In the as-cast condition, the formation of the 3D network is not sufficient to determine an increase of mechanical properties of the alloys since fracture propagates by cleavage through eutectic Si particles and Ni aluminides or by the debonding of brittle phases from the aluminum matrix. After T6 heat treatment the increasing amount of Ni aluminides, due to further addition of Ni to the alloy, together with their brittle behavior, leads to a decrease of yield strength, ultimate tensile strength, and Vickers microhardness. Despite the fact that Ni addition up to 2 wt % hinders spheroidization of eutectic Si particles during T6 heat treatment, it also promotes the formation of a higher number of brittle Ni-based compounds that easily promote fracture propagation.

Clinical and Molecular Consequences of NF1 Microdeletion

National Research Council Canada - National Science Library

Stephens, Karen

2007-01-01

... model of plexiform neurofibroma tunorigenesis and the conservation of recombination hotspots. Our hypothesis that genome instability occurs during NF1-tumorigenesis continues to be supported by our findings...

Viscous behavior of (Sn{sub 61.9}Pb{sub 38.1}){sub 100-x}RE{sub x} (x=0, 0.1, 0.3, 1 wt%) solder alloys

Energy Technology Data Exchange (ETDEWEB)

Wu Yuqin [Key Laboratory of Liquid Structure and Heredity of Materials, Ministry of Education, Shandong University (Southern Campus), 73 Jingshi Road, Jinan 250061 (China); Bian Xiufang [Key Laboratory of Liquid Structure and Heredity of Materials, Ministry of Education, Shandong University (Southern Campus), 73 Jingshi Road, Jinan 250061 (China)], E-mail: xfbian@sdu.edu.cn; Zhao Yan; Li Xuelian; Zhang Yanning; Tian Yongsheng; Lv Xiaoqian [Key Laboratory of Liquid Structure and Heredity of Materials, Ministry of Education, Shandong University (Southern Campus), 73 Jingshi Road, Jinan 250061 (China)

2008-05-19

The viscous behavior of (Sn{sub 61.9}Pb{sub 38.1}){sub 100-x}RE{sub x} (x=0, 0.1, 0.3, 1 wt%) solder alloys has been investigated by a torsional oscillation viscometer. The structural transition temperature T{sup '} increases with increasing addition of RE elements. Above T{sup '}, the viscosities of melts increase with increasing addition of RE, and are fitted well with the Arrhenius equation. The time dependence of viscosity at the measured temperature below T{sup '} follows the exponential relaxation function and reflects the process of the structural transition in the melt, which can be considered as the thermodynamic equilibrium process. The thermodynamic equilibrium relaxation time {tau}{sub eq} increases with both the equilibrium viscosity {eta}{sub eq} and the discrepancy in viscosity ({delta}{eta}), between the initial state and the equilibrium state. However, it decreases with the measured temperature T. The size of clusters in the melts increases with increasing of viscosity and is restricted by the thermodynamic equilibrium conditions.

Metallurgical characterization of melt-spun ribbons of U-5.4 wt%Nb alloy

Science.gov (United States)

Ma, Rong; Ren, Zhiyong; Tang, Qingfu; Chen, Dong; Liu, Tingyi; Su, Bin; Wang, Zhenhong; Luo, Chao

2018-06-01

The microstructures and micro-mechanical properties of the melt-spun ribbons of U-5.4 wt%Nb alloy were characterized using optical microscopy, scanning electron microscopy, X-ray diffraction and nanoindentation. Observed variations in microstructures and properties are related to the changes in ribbon thicknesses and cooling rates. The microstructures of the melt-spun ribbon consist of fine-scale columnar grains (∼1 μm) adjacent to the chill surface and coarse cellular grains in the remainder of the ribbon. In addition, the formation of inclusions in the ribbon is suppressed kinetically due to the high cooling rate during melt spinning. Compared with the water-quenched specimen prepared by traditional gravity casting and solution heat treatment, the elastic modulus values of the U-5.4 wt%Nb alloy were examined to vary with grain size and exhibited diverse energy dissipation capacities.

Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family

OpenAIRE

Chih-Ping Chen; Shuenn-Dyh Chang; Tzu-Hao Wang; Liang-Kai Wang; Jeng-Daw Tsai; Yu-Peng Liu; Schu-Rern Chern; Peih-Shan Wu; Jun-Wei Su; Yu-Ting Chen; Wayseen Wang

2013-01-01

Objective: This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. Materials and Methods: A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woma...

Effects of sintering processes on mechanical properties and microstructure of TiB2–TiC + 8 wt% nano-Ni composite ceramic cutting tool material

International Nuclear Information System (INIS)

Zou Bin; Huang Chuanzhen; Song Jinpeng; Liu Ziye; Liu Lin; Zhao Yan

2012-01-01

Highlights: ► TiB 2 –TiC + 8 wt% nano-Ni ceramic tool material was sintered by six processes. ► The properties of material depended mainly on the holding stages and duration. ► SP1 process was involved with the multiple holding stages and longer duration. ► SP1 process led to many pores, and coarsening and brittle rupture of grains. ► Tool material sintered by SP6 process exhibited the optimum mechanical properties. - Abstract: TiB 2 –TiC composite powder was prepared by ball-milled with ethanol and vacuum dry, and TiB 2 –TiC + 8 wt% nano-Ni composite ceramic cutting tool material was sintered using vacuum hot-pressed sintering technique by six processes which included the different holding stages and times. The effects of sintering processes on the mechanical properties and microstructure were investigated. The polished surface and fracture surface of TiB 2 –TiC + 8 wt% nano-Ni ceramics sintered by the different sintering processes were observed by scanning electron microscope (SEM), X-ray diffraction (XRD) and energy-dispersive spectrometry (EDS), and the relationships between mechanical properties and microstructure were discussed. The mechanical properties and microstructure depended mainly on the total holding time and the different holding stages. The longer holding time and multiple holding stages led to coarsening of TiB 2 and TiC grains, formation of pores and the brittle rupture of grains, which deteriorated the mechanical properties of TiB 2 –TiC + 8 wt% nano-Ni ceramic. TiB 2 –TiC + 8 wt% nano-Ni composite ceramic cutting tool material sintered by SP6 process exhibited the optimum resultant mechanical properties because of its finer microstructure and higher relative density, and its flexural strength, fracture toughness and hardness were 916.8 MPa, 7.80 MPa m 1/2 and 22.54 GPa, respectively.

FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region

OpenAIRE

J.C. Llerena Jr.; J.C. Cabral de Almeida; E. Bastos; J.A. Crolla

2000-01-01

Conventional cytogenetic studies on a female infant with sporadic aniridia revealed what appeared to be a balanced de novo t(11;13) (p13;q33) translocation. Fluorescence in situ hybridization (FISH) investigations, however, detected the presence of a cryptic 11p13p14 deletion which included the WAGR region and involved approximately 7.5 Mb of DNA, including the PAX6 and WT1 genes. These results account for the patient's aniridia, and place her at high risk for developing Wilms' tumour. The ab...

Influence of Nb content on grain size and mechanical properties of 18 wt% Cr ferritic stainless steel

Energy Technology Data Exchange (ETDEWEB)

Kang, Y. [School of Materials Science and Engineering, University of Science and Technology Beijing, Beijing 100083 (China); Mao, W.M., E-mail: weiminmao@263.net [School of Materials Science and Engineering, University of Science and Technology Beijing, Beijing 100083 (China); Chen, Y.J. [School of Materials Science and Engineering, University of Science and Technology Beijing, Beijing 100083 (China); Jing, J.; Cheng, M. [Taizhou Xinyu Precision Manufacture Company Limited, Jiangyan 225500, Jiangsu (China)

2016-11-20

The influence of Nb contents between 0.20 and 1.20 wt% on the grain size and mechanical properties of 18 wt% Cr ferritic stainless steel produced by investment casting was investigated. The average grain sizes of the three steels decreased apparently with increasing Nb content mainly due to the increasing number of pre-existing oxides formed at higher temperature, which were more likely to be the nuclei of heterogeneous nucleation. The thermodynamic analysis of Nb(C,N) formation was in conformity to the experimental result that the Nb(C,N) precipitates became larger with increasing Nb content. The as-cast specimen with the smallest grain size of steel C had the worse tensile strength and elongation in comparison with the as-cast specimens of steels A and B, mostly owing to the catenarian and dendritic Nb(C,N) particles distributed densely at the grain boundaries. The mechanical properties of specimens were not improved remarkably through high temperature solid-solution, whereas the mechanical properties of normalized specimens in the three steels were improved to different degrees. The coalescence and sparse distribution of smaller precipitates at grain boundaries after normalizing effectively weakened the local stress concentration arising from the reticular distribution of particles. The normalized specimen of steel A with 0.24 wt% Nb still showed good mechanical properties. Normalizing at 850 °C for 2 h is the appropriate heat treatment for the 18 wt% Cr ferritic stainless steel. The comparatively rational Nb content of the ferritic stainless steel is between 0.20 and 0.40 wt% for investment casting production.

Wear properties of Ti-13Zr-13Nb (wt.%) near β titanium alloy containing 0.5 wt.% boron in dry condition, Hank's solution and bovine serum

International Nuclear Information System (INIS)

Majumdar, P.; Singh, S.B.; Chakraborty, M.

2010-01-01

The effect of heat treatment on the microstructure, hardness and sliding wear behaviour of Ti-13Zr-13Nb (wt.%) containing 0.5 wt.% B (TZNB) has been studied and compared with that of Ti-13Zr-13Nb (wt.%) (TZN) alloy. The wear properties were tested in dry condition and in simulated body fluid (Hank's solution and bovine serum) to understand the effect of different medium on wear behaviour of the TZNB alloy. Depending on the heat treatment condition the microstructure of the alloy consisted of α/martensite and TiB in β matrix. In general, the hardness of all the heat treated samples varied in a narrow range and in most of the cases addition of boron to the TZN alloy decreased the hardness. Almost all cases, no significant variation of the wear rate in dry condition with heat treatment was observed. Compared with the wear rate in dry condition, the wear rate in Hank's solution of the all the TZNB samples increased substantially. Moreover, the wear was found to be most severe in bovine serum. Addition of boron to TZN alloy did not result in any improvement in the wear resistance in all the media studied.

MYR1-Dependent Effectors Are the Major Drivers of a Host Cell’s Early Response to Toxoplasma, Including Counteracting MYR1-Independent Effects

Directory of Open Access Journals (Sweden)

Adit Naor

2018-04-01

Full Text Available The obligate intracellular parasite Toxoplasma gondii controls its host cell from within the parasitophorous vacuole (PV by using a number of diverse effector proteins, a subset of which require the aspartyl protease 5 enzyme (ASP5 and/or the recently discovered MYR1 protein to cross the PV membrane. To examine the impact these effectors have in the context of the entirety of the host response to Toxoplasma, we used RNA-Seq to analyze the transcriptome expression profiles of human foreskin fibroblasts infected with wild-type RH (RH-WT, RHΔmyr1, and RHΔasp5 tachyzoites. Interestingly, the majority of the differentially regulated genes responding to Toxoplasma infection are MYR1 dependent. A subset of MYR1 responses were ASP5 independent, and MYR1 function did not require ASP5 cleavage, suggesting the export of some effectors requires only MYR1. Gene set enrichment analysis of MYR1-dependent host responses suggests an upregulation of E2F transcription factors and the cell cycle and a downregulation related to interferon signaling, among numerous others. Most surprisingly, “hidden” responses arising in RHΔmyr1- but not RH-WT-infected host cells indicate counterbalancing actions of MYR1-dependent and -independent activities. The host genes and gene sets revealed here to be MYR1 dependent provide new insight into the parasite’s ability to co-opt host cell functions.

Micro deletion in the y-chromosome of egyptian infertile men

International Nuclear Information System (INIS)

El-maghraby, T.; Hussein, A.H.; El-sayed, N.M.; Elghandor, T.

2003-01-01

The present investigation was designed to study the microdeletions in 5 different sites of azoospermia factor (AZF) in y-chromosome, SY 239, SY 254, SY 277, SY 283 in AZFc and SY 133 in AZFcb region using polymerase chain reactions. The present investigation included also measuring the levels of FSH, LH, testosterone and prolactin. Semen orgasm and cytogenetic analysis were also done. The study included 50 Egyptian men, 30 patients with azoospermia or oligospermia and 20 fertile men as control. Patients were classified into 2 groups, one having sertoli cells only (SCO) and the other suffering from maturation arrest (MA) according to testis biopsies. Three patients from SCO have been exposed to radiotherapy for different reasons. Results revealed that 13.3% of infertile men (SCO and MA) showed Y microdeletions (15% and 10% respectively). Moreover, SY 239 and SY 254 in DAZ gene were the common microdeletion sitesa more in patients of the present study. However, SY 133 microdeletion was detected in SCO patients only. As expected, there were highly significant increases in serum FSH and LH in SCO group compared with normal and MA groups. PCR based assay is important to detect microdeletions in AZF region of Y-chromosome in non-idiopathic infertile men

Environmental impact assessment of a WtE plant after structural upgrade measures.

Science.gov (United States)

Passarini, Fabrizio; Nicoletti, Monica; Ciacci, Luca; Vassura, Ivano; Morselli, Luciano

2014-04-01

The study focuses on analysing the evolution of environmental impacts caused by a medium-large Italian WtE plant before and after revamping and maintenance operations, with the aim of providing an evaluation of how much these structural upgrade measures may affect the total environmental performance. LCA methodology was applied for the modelling and comparison of six WtE scenarios, each describing the main structural upgrades carried out in the plant over the years 1996-2011. The comparison was conducted by adopting 1ton of MSW as the functional unit, and the net contribution from energy recovery to power generation was distinguished by defining consistent national grid electricity mixes for every year considered. The Ecoindicator99 2.09 impact assessment method was used to evaluate the contribution to midpoint and endpoint categories (e.g. carcinogens, respiratory inorganics and organics, climate change, damage to human health). Lastly, the "Pedigree quality matrix" was applied to verify the reliability and robustness of the model created. As expected, the results showed better environmental scores after both the implementation of new procedures and the integration of operations. However, while a net reduction of air emissions seems to be achievable through dedicated flue gas treatment technologies, outcomes underscored potentials for improving the management of bottom ash through the adoption of alternative options aimed to use that solid residue mainly as filler, and to decrease risks from its current disposal in landfill. If the same effort that is put into flue gas treatment were devoted to energy recovery, the targets for the WtE plant could be easily met, achieving a higher sustainability. This aspect is even more complex: national policies for implementing greener and renewable energy sources would result in a lower impact of the national energy mix and, hence, in a lower net avoided burden from energy recovery. The study confirmed the expected improvements

Phase-field simulation of peritectic solidification closely coupled with directional solidification experiments in an Al-36 wt% Ni alloy

International Nuclear Information System (INIS)

Siquieri, R; Emmerich, H; Doernberg, E; Schmid-Fetzer, R

2009-01-01

In this work we present experimental and theoretical investigations of the directional solidification of Al-36 wt% Ni alloy. A phase-field approach (Folch and Plapp 2005 Phys. Rev. E 72 011602) is coupled with the CALPHAD (calculation of phase diagrams) method to be able to simulate directional solidification of Al-Ni alloy including the peritectic phase Al 3 Ni. The model approach is calibrated by systematic comparison to microstructures grown under controlled conditions in directional solidification experiments. To illustrate the efficiency of the model it is employed to investigate the effect of temperature gradient on the microstructure evolution of Al-36 wt% Ni during solidification.

Role of male genetic factors in recurrent pregnancy loss in Northeast China.

Science.gov (United States)

Dai, Rulin; Pan, Yuan; Fu, Yan; Liu, Qian; Han, Weifeng; Liu, Ruizhi

2018-05-01

This study aimed to investigate the roles of male genetic factors, including Y chromosome microdeletions and chromosomal heteromorphism, in recurrent pregnancy loss (RPL) in Northeast China. We evaluated 1072 male patients from Northeast China whose wives had a history of two or more consecutive miscarriages. We also selected 971 infertile and 200 fertile men as control groups. Semen analysis was carried out by computer-assisted sperm analysis. Y chromosome microdeletions were detected by polymerase chain reaction and chromosomes were evaluated by karyotype analysis. There were no microdeletions in the RPL and fertile control groups, but 112 of the infertile men had Y chromosome microdeletions. Chromosomal heteromorphism was detected in all the groups. Patients in the infertile control group had a significantly higher percentage (2.16%) of Y variation (Yqh±) heteromorphism compared with the RPL group, but there were no significant differences in the incidences of chromosomal heteromorphism among the other groups. Y chromosome microdeletions and chromosomal heteromorphism are not associated with RPL in Northeast China. Some RPL males had structural chromosome anomalies, all of which were reciprocal translocations. We suggest that it may not be necessary to detect Y chromosome microdeletions in RPL males with Yqh±. Copyright © 2018 Elsevier B.V. All rights reserved.

Low temperature bainite in steel with 0.26 wt% C

Energy Technology Data Exchange (ETDEWEB)

Soliman, Mohamed, E-mail: mohamed.soliman@tu-clausthal.de [Institute of Metallurgy, Clausthal University of Technology, D38678 Clausthal-Zellerfeld (Germany); Mostafa, Hanaa [Institute of Metallurgy, Clausthal University of Technology, D38678 Clausthal-Zellerfeld (Germany); El-Sabbagh, Ahmed S. [Faculty of Engineering, Ain-Shams University, Cairo (Egypt); Palkowski, Heinz [Institute of Metallurgy, Clausthal University of Technology, D38678 Clausthal-Zellerfeld (Germany)

2010-11-15

Research highlights: {yields} Low temperature bainite is produced in 0.26 wt% C steel. {yields} Alloy and process design enable decreasing the carbon content of the alloy. {yields} Generations of bainite are formed at temperatures lower than M{sub S} of the bulk alloy. {yields} Bainite plate thicknesses record values between 90 nm and 164 nm. {yields} Y.S. up to 1570 MPa and U.S. up to 2200 MPa are recorded in compression. - Abstract: Low temperature bainite has been produced in steel with 0.26 wt% C. In this steel the bainite transformation was suppressed, firstly, by adding substitutional solute of about 2 wt% Ni and, secondly, by modifying the conventional single-step bainite transformation. This modification made use of the suppression of martensite start of the undecomposed austenite due to carbon partitioning between that austenite and the formed bainitic ferrite. Consequently, it has been experimentally proved that generations of bainite were formed at temperatures lower than the martensite start of the bulk alloy. Dilatometric measurements were used to design and monitor the bainitic transformation process. The structure was characterized using light optical microscopy, scanning electron microscopy and X-ray diffractometry. In order to investigate the effect of the microstructure parameters on the material's mechanical properties, compression tests have been conducted at room temperature. The results were compared to those obtained by bainitic transformation in single-step process.

Low temperature bainite in steel with 0.26 wt% C

International Nuclear Information System (INIS)

Soliman, Mohamed; Mostafa, Hanaa; El-Sabbagh, Ahmed S.; Palkowski, Heinz

2010-01-01

Research highlights: → Low temperature bainite is produced in 0.26 wt% C steel. → Alloy and process design enable decreasing the carbon content of the alloy. → Generations of bainite are formed at temperatures lower than M S of the bulk alloy. → Bainite plate thicknesses record values between 90 nm and 164 nm. → Y.S. up to 1570 MPa and U.S. up to 2200 MPa are recorded in compression. - Abstract: Low temperature bainite has been produced in steel with 0.26 wt% C. In this steel the bainite transformation was suppressed, firstly, by adding substitutional solute of about 2 wt% Ni and, secondly, by modifying the conventional single-step bainite transformation. This modification made use of the suppression of martensite start of the undecomposed austenite due to carbon partitioning between that austenite and the formed bainitic ferrite. Consequently, it has been experimentally proved that generations of bainite were formed at temperatures lower than the martensite start of the bulk alloy. Dilatometric measurements were used to design and monitor the bainitic transformation process. The structure was characterized using light optical microscopy, scanning electron microscopy and X-ray diffractometry. In order to investigate the effect of the microstructure parameters on the material's mechanical properties, compression tests have been conducted at room temperature. The results were compared to those obtained by bainitic transformation in single-step process.

Study of the corrosion behavior and the corrosion films formed on the surfaces of Mg–xSn alloys in 3.5 wt.% NaCl solution

International Nuclear Information System (INIS)

Wang, Jingfeng; Li, Yang; Huang, Song; Zhou, Xiaoen

2014-01-01

Highlights: • Corrosion of four cast Mg–xSn alloys in 3.5 wt.% NaCl solution was investigated. • Both Mg(OH) 2 /SnO 2 corrosion product film and Mg(OH) 2 /MgSnO 3 clusters formed on Mg–1.5Sn. • Compact Mg(OH) 2 /MgSnO 3 film suppressed the cathodic effect of the impurity inclusions. • Mg–xSn (x = 0.5, 1.0, 2.0 wt.%) alloys only formed loose Mg(OH) 2 /SnO 2 corrosion product film. - Abstract: The corrosion behavior and the corrosion films formed on the surfaces of Mg–xSn (x = 0.5, 1.0, 1.5, and 2.0 wt.%) alloys in 3.5 wt.% NaCl solution were investigated by immersion tests, electrochemical measurements, corrosion morphology observations, and X-ray diffraction analysis. Immersion tests and electrochemical measurements illustrated that the best corrosion resistance was reported for the Mg–1.5Sn alloy. Both Mg(OH) 2 /SnO 2 corrosion product film and Mg(OH) 2 /MgSnO 3 clusters formed on Mg–1.5Sn alloy surface. Mg(OH) 2 /MgSnO 3 clusters were compact and suppressed the cathodic effect of the impurity inclusions greatly. The Mg–xSn (x = 0.5, 1.0, and 2.0 wt.%) alloys only formed loose Mg(OH) 2 /SnO 2 corrosion product film during the corrosion process

Neutron diffraction study of the deformation mechanisms of the uranium-7 wt.% niobium shape memory alloy

Energy Technology Data Exchange (ETDEWEB)

Brown, D.W. [Los Alamos National Lab, Los Alamos, NM 87545 (United States)]. E-mail: dbrown@lanl.gov; Bourke, M.A.M. [Los Alamos National Lab, Los Alamos, NM 87545 (United States); Field, R.D. [Los Alamos National Lab, Los Alamos, NM 87545 (United States); Hults, W.L. [Los Alamos National Lab, Los Alamos, NM 87545 (United States); Teter, D.F. [Los Alamos National Lab, Los Alamos, NM 87545 (United States); Thoma, D.J. [Los Alamos National Lab, Los Alamos, NM 87545 (United States); Vogel, S.C. [Los Alamos National Lab, Los Alamos, NM 87545 (United States)

2006-04-15

The shape memory effect (SME) has been reported in the uranium-niobium alloy system in the region of the phase diagram surrounding U-6.5 wt.% Nb. In this regime, the material may have either an {alpha}'' monoclinic (U-6 wt.% Nb), or {gamma}{sup 0} tetragonal structure (U-7 wt.% Nb) and is two phase near 6.5 wt.% niobium. In situ neutron diffraction studies during uniaxial compressive loading of U-7 wt.% Nb indicate that strain in the recoverable region is accommodated by both motion of existing twin boundaries within {gamma}{sup 0}-phase and stress-induced phase transformation from the {gamma}{sup 0} to the {alpha}'' structure. The volume fraction of the {gamma}{sup 0}-phase decreases from 100% initially to {approx}26% after 4% total strain and some reversion is observed on release. The initial stress state of the stress-induced {alpha}'' grains will be discussed as well as the load sharing between the two phases.

Tribological Behavior of Plasma-Sprayed Al2O3-20 wt.%TiO2 Coating

Science.gov (United States)

Cui, Shiyu; Miao, Qiang; Liang, Wenping; Zhang, Zhigang; Xu, Yi; Ren, Beilei

2017-05-01

Al2O3-20 wt.% TiO2 ceramic coatings were deposited on the surface of Grade D steel by plasma spraying of commercially available powders. The phases and the microstructures of the coatings were investigated by x-ray diffraction and scanning electron microscopy, respectively. The Al2O3-20 wt.% TiO2 composite coating exhibited a typical inter-lamellar structure consisting of the γ-Al2O3 and the Al2TiO5 phases. The dry sliding wear behavior of the coating was examined at 20 °C using a ball-on-disk wear tester. The plasma-sprayed coating showed a low wear rate ( 4.5 × 10-6 mm3 N-1 m-1), which was matrix ( 283.3 × 10-6 mm3 N-1 m-1), under a load of 15 N. In addition, the tribological behavior of the plasma-sprayed coating was analyzed by examining the microstructure after the wear tests. It was found that delamination of the Al2TiO5 phase was the main cause of the wear during the sliding wear tests. A suitable model was used to simulate the wear mechanism of the coating.

Effect of wheel speed on magnetic and mechanical properties of melt spun Fe-6.5 wt.% Si high silicon steel

Science.gov (United States)

Ouyang, Gaoyuan; Jensen, Brandt; Tang, Wei; Dennis, Kevin; Macziewski, Chad; Thimmaiah, Srinivasa; Liang, Yongfeng; Cui, Jun

2018-05-01

Fe-Si electric steel is the most widely used soft magnetic material in electric machines and transformers. Increasing the silicon content from 3.2 wt.% to 6.5 wt.% brings about large improvement in the magnetic and electrical properties. However, 6.5 wt.% silicon steel is inherited with brittleness owing to the formation of B2 and D03 ordered phase. To obtain ductility in Fe-6.5wt.% silicon steel, the ordered phase has to be bypassed with methods like rapid cooling. In present paper, the effect of cooling rate on magnetic and mechanical properties of Fe-6.5wt.% silicon steel is studied by tuning the wheel speed during melt spinning process. The cooling rate significantly alters the ordering and microstructure, and thus the mechanical and magnetic properties. X-ray diffraction data shows that D03 ordering was fully suppressed at high wheel speeds but starts to nucleate at 10m/s and below, which correlates with the increase of Young's modulus towards low wheel speeds as tested by nanoindentation. The grain sizes of the ribbons on the wheel side decrease with increasing wheel speeds, ranging from ˜100 μm at 1m/s to ˜8 μm at 30m/s, which lead to changes in coercivity.

The inflammatory cytokine TNFα cooperates with Ras in elevating metastasis and turns WT-Ras to a tumor-promoting entity in MCF-7 cells

International Nuclear Information System (INIS)

Leibovich-Rivkin, Tal; Liubomirski, Yulia; Meshel, Tsipi; Abashidze, Anastasia; Brisker, Daphna; Solomon, Hilla; Rotter, Varda; Weil, Miguel; Ben-Baruch, Adit

2014-01-01

In the present study we determined the relative contribution of two processes to breast cancer progression: (1) Intrinsic events, such as activation of the Ras pathway and down-regulation of p53; (2) The inflammatory cytokines TNFα and IL-1β, shown in our published studies to be highly expressed in tumors of >80% of breast cancer patients with recurrent disease. Using MCF-7 human breast tumor cells originally expressing WT-Ras and WT-p53, we determined the impact of the above-mentioned elements and cooperativity between them on the expression of CXCL8 (ELISA, qRT-PCR), a member of a “cancer-related chemokine cluster” that we have previously identified. Then, we determined the mechanisms involved (Ras-binding-domain assays, Western blot, luciferase), and tested the impact of Ras + TNFα on angiogenicity (chorioallantoic membrane assays) and on tumor growth at the mammary fat pad of mice and on metastasis, in vivo. Using Ras G12V that recapitulates multiple stimulations induced by receptor tyrosine kinases, we found that Ras G12V alone induced CXCL8 expression at the mRNA and protein levels, whereas down-regulation of p53 did not. TNFα and IL-1β potently induced CXCL8 expression and synergized with Ras G12V , together leading to amplified CXCL8 expression. Testing the impact of WT-Ras, which is the common form in breast cancer patients, we found that WT-Ras was not active in promoting CXCL8; however, TNFα has induced the activation of WT-Ras: joining these two elements has led to cooperative induction of CXCL8 expression, via the activation of MEK, NF-κB and AP-1. Importantly, TNFα has led to increased expression of WT-Ras in an active GTP-bound form, with properties similar to those of Ras G12V . Jointly, TNFα + Ras activities have given rise to increased angiogenesis and to elevated tumor cell dissemination to lymph nodes. TNFα cooperates with Ras in promoting the metastatic phenotype of MCF-7 breast tumor cells, and turns WT-Ras into a tumor

Air pollution control systems in WtE units: An overview

Energy Technology Data Exchange (ETDEWEB)

Vehlow, J., E-mail: juergen.vehlow@partner.kit.edu

2015-03-15

Highlights: • The paper describes in brief terms the development of gas cleaning in waste incineration. • The main technologies for pollutant removal are described including their basic mechanisms. • Their respective efficiencies and their application are discussed. • A cautious outlook regarding future developments is made. - Abstract: All WtE (waste-to-energy) plants, based on combustion or other thermal processes, need an efficient gas cleaning for compliance with legislative air emission standards. The development of gas cleaning technologies started along with environment protection regulations in the late 1960s. Modern APC (air pollution control) systems comprise multiple stages for the removal of fly ashes, inorganic and organic gases, heavy metals, and dioxins from the flue gas. The main technologies and devices used for abatement of the various pollutants are described and their basic principles, their peculiarities, and their application are discussed. Few systems for cleaning of synthesis gas from waste gasification plants are included. Examples of APC designs in full scale plants are shown and cautious prospects for the future development of APC systems are made.

Air pollution control systems in WtE units: An overview

International Nuclear Information System (INIS)

Vehlow, J.

2015-01-01

Highlights: • The paper describes in brief terms the development of gas cleaning in waste incineration. • The main technologies for pollutant removal are described including their basic mechanisms. • Their respective efficiencies and their application are discussed. • A cautious outlook regarding future developments is made. - Abstract: All WtE (waste-to-energy) plants, based on combustion or other thermal processes, need an efficient gas cleaning for compliance with legislative air emission standards. The development of gas cleaning technologies started along with environment protection regulations in the late 1960s. Modern APC (air pollution control) systems comprise multiple stages for the removal of fly ashes, inorganic and organic gases, heavy metals, and dioxins from the flue gas. The main technologies and devices used for abatement of the various pollutants are described and their basic principles, their peculiarities, and their application are discussed. Few systems for cleaning of synthesis gas from waste gasification plants are included. Examples of APC designs in full scale plants are shown and cautious prospects for the future development of APC systems are made

Conceptual design study of Hyb-WT as fusion–fission hybrid reactor for waste transmutation

International Nuclear Information System (INIS)

Siddique, Muhammad Tariq; Kim, Myung Hyun

2014-01-01

Highlights: • Conceptual design study of fusion-fission hybrid reactor for waste transmutation. • MCNPX and MONTEBURNS are compared for transmutation performance of WT-Hyb. • Detailed neutronic performance of final optimized Hyb-WT design is analyzed. • A new tube-in-duct core design is implemented and compared with pin type design. • Study shows many aspects of hybrid reactor even though scope was limited to neutronic analysis. - Abstract: This study proposes a conceptual design of a hybrid reactor for waste transmutation (Hyb-WT). The design of Hyb-WT is based on a low-power tokamak (less than 150 MWt) and an annular ring-shaped reactor core with metal fuel (TRU 60 w/o, Zr 40 w/o) and a fission product (FP) zone. The computational code systems MONTEBURNS and MCNPX2.6 are investigated for their suitability in evaluating the performance of Hyb-WT. The overall design performance of the proposed reactor is determined by considering pin-type and tube-in-duct core designs. The objective of such consideration is to explore the possibilities for enhanced transmutation with reduced wall loading from fusion neutrons and reduced transuranic (TRU) inventory. TRU and FP depletion is analyzed by calculating waste transmutation ratio, mass burned per full power year (in units of kg/fpy), and support ratio. The radio toxicity analysis of TRUs and FPs is performed by calculating the percentage of toxicity reduction in TRU and FP over a burn cycle

A Project Assessment of Stabilizing System of WT Generation using Rechargeable Battery

Science.gov (United States)

Kojima, Yasuhiro; Takano, Tomihiro; Tanikawa, Ryoichi; Takagi, Tetsuro; Hirooka, Koutaro; Kumagai, Sadatoshi

The expansion of the renewable energy introduction is examined as measures for controlling global warming. Wind power generation is expected as effective power resource, but the negative impact from the difficulty of an unstable output is concerned. In recent years, WT generation with contract of cut-of with shorting adjusting power and with rechargeable battery for stabilizing control are examined, but the introduction has not been accelerated yet because there is an influence in WT generation entrepreneur's business. In this paper, we make a brief summary of relation between the fluctuation of wind power generation and stability of electric power operation, and two types of approach; cut-off contract and stabilization using rechargeable battery. For the stabilization using battery, there are two methods, one is reduction control and the other is constant control. We propose a new control method for constant control based on profit optimization considering WT generation forecast and its risk of deviation. We also propose the estimation method for the .limitation of battery installation. Simulation results show the efficiency of our proposed methods.

Microdeletions of chromosome 17p13.3 markers in an unselected survey of probands with type I lissencephaly

Energy Technology Data Exchange (ETDEWEB)

Giannakoudis, J.; Wrisch, A.; Farber, C. [and others

1994-09-01

Type I lissencephaly (MIM No.247200, McKusick, 1992), a brain malformation characterized by a smooth cerebral surface, exhibits a four-layered cortex and leads to mental retardation and other neurological anomalies. Lissencephaly, type I occurs either isolated (ILS) or in association with dysmorphic facial features (Miller-Dieker syndrome, MDS). Microdeletions were detected within a 350 kb critical segment in 17p13.3 in about 13% of patients with ILS and about 90% with MDS. Most of these patients were selected for molecular analysis, however, by an already known abnormal karyotype. Therefore, the diagnostic value of microsatellite and VNTR markers to identify deletions in unselected ILS/MDS patients is still unknown. We have tested the respective significance of a novel (CA)17 VNDR element (D17S379) and of the VNTR marker YNZ22 (D17S5) to identify deletions in an unselected survey of 28 ILS/MDS patients. For D17S379, 50% of our patients were heterozygous, while 46% were uninformative with respect to segregation of alleles within their family. One patient (3.6%) was shown to be deleted for a paternal allele. PCR for D17S5, which maps proximal to the ILS region, disclosed a deletion in 3 patients (10.7%), including the one seen also by D17S379. Altogether, 75% were heterozygous and only 14% uninformative for this locus. Our results suggest that the combined PCR analysis for two of the most significant markers within the ILS/MDS region disclose a deletion in about 10% of unselected patients with features of type I lissencephaly. The low frequency of deletions detected may reflect different mutation mechanisms, genetic heterogeneity, the need for more densely spaced markers around the critical region, and/or more strict clinical criteria for defining the study group.

VNTR fingerprinting of Kluyveromyces marxianus strains WT, 7-1, and 8-1 by using different primer types to give best results in PCR and on electrophorese gel in order to find differentiation of the DNA of the yeast strains.

Science.gov (United States)

Using mutagenized Kluyveromyces marxianus strains (WT, 7-1, 8-1) we wish to find out the variable numbered tandem repeats (VNTR) of each of the DNA strains from the different mutagenized K. marxianus strains. To do this we used Phusion HF Buffer Pack to try and give a clear picture of the VNTR by u...

Correlation study on waist circumference-triglyceride (WT) index and coronary artery scores in patients with coronary heart disease.

Science.gov (United States)

Yang, R-F; Liu, X-Y; Lin, Z; Zhang, G

2015-01-01

Coronary disease is analyzed through common lipid profiles, but these analyses fail to account for residual risk due to abdominal weight and elevated TG levels. We aimed to investigate the relationship between the waist circumference × triglyceride index (WT index) and the Coronary Artery Score (CAS) in patients with coronary heart disease. 346 patients in our Cardiology Department were recruited from September 2007 to August 2011 and divided into two groups according to whether the patients presented with metabolic syndrome. We performed coronary angiography using the standard Judkins method. The severity of coronary artery stenosis and the CAS were calculated and analyzed with a computerized quantitative analysis system. The signs index, which includes the body mass index (BMI), waist circumference, hip circumference, waist-hip-ratio, and waist-height-ratio, the blood glucose and blood lipid index of all the patients were collected and used to calculate the WT index (waist circumference x triglyceride index. We performed a correlative analysis with age, gender, body mass index, blood glucose and blood lipid, blood pressure and other risk indicators of all patients as the dependent variables and the CAS as the independent variable. We show that the CAS is positively correlated to the WT index. Several lipid profiles and waist circumference were significantly associated with the CAS. The WT index is correlated to the CAS and is a good predictor for the development of coronary artery disease; it can be applied in the clinic for early intervention in populations at risk for coronary heart disease.

26 CFR 1.1013-1 - Property included in inventory.

Science.gov (United States)

2010-04-01

... 26 Internal Revenue 11 2010-04-01 2010-04-01 true Property included in inventory. 1.1013-1 Section... inventory. The basis of property required to be included in inventory is the last inventory value of such property in the hands of the taxpayer. The requirements with respect to the valuation of an inventory are...

Monitoring therapy with MEK inhibitor U0126 in a novel Wilms tumor model in Wt1 knockout Igf2 transgenic mice using 18F-FDG PET with dual-contrast enhanced CT and MRI: early metabolic response without inhibition of tumor growth.

Science.gov (United States)

Flores, Leo G; Yeh, Hsin-Hsien; Soghomonyan, Suren; Young, Daniel; Bankson, James; Hu, Qianghua; Alauddin, Mian; Huff, Vicki; Gelovani, Juri G

2013-04-01

The understanding of the role of genetic alterations in Wilms tumor development could be greatly advanced using a genetically engineered mouse models that can replicate the development and progression of this disease in human patients and can be monitored using non-invasive structural and molecular imaging optimized for renal tumors. Repetitive dual-contrast computed tomography (CT; intravenous and intraperitoneal contrast), T2-weighted magnetic resonance imaging (MRI), and delayed 2-deoxy-2-[(18)F]fluoro-D-glucose ((18)F-FDG) positron emission tomography (PET) were utilized for characterization of Igf2 biallelic expression/Wt1 knockout mouse model of Wilms tumor. For CT imaging, Ioversol 678 mg/ml in 200 μl was administered i.p. followed by 100 μl injected intravenously at 20 and 15 min prior to imaging, respectively. Static PET imaging studies were acquired at 1, 2, and 3 h after i.v. administration of (18)F-FDG (400 μCi). Coronal and sagittal T1-weighted images (TE/TR 8.5/620 ms) were acquired before and immediately after i.v. injection of 0.4 ml/kg gadopentetate dimeglumine followed by T2-weighted images (TE/TR 60/300 ms). Tumor tissue samples were characterized by histopathology and immunohistochemistry for Glut1, FASN, Ki67, and CD34. In addition, six Wt1-Igf2 mice were treated with a mitogen-activated protein kinase (MEK) inhibitor U0126 (50 μmol/kg i.p.) every 4 days for 6 weeks. (18)F-FDG PET/CT imaging was repeated at different days after initiation of therapy with U0126. The percent change of initial tumor volume and SUV was compared to non-treated historic control animals. Overall, the best tumor-to-adjacent kidney contrast as well as soft tissue contrast for other abdominal organs was achieved using T2-weighted MRI. Delayed (18)F-FDG PET (3-h post (18)F-FDG administration) and dual-contrast CT (intravenous and intraperitoneal contrast) provided a more accurate anatomic and metabolic characterization of Wilms tumors in Wt1-Igf2 mice

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

Energy Technology Data Exchange (ETDEWEB)

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

1995-07-17

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

Femtosecond laser induced crystallization and permanent relief grating structures in amorphous inorganic (In2O3+1 wt % TiO2) films

International Nuclear Information System (INIS)

Katayama, Shigeru; Tsutsumi, Naoto; Nakamura, Toshitaka; Horiike, Mika; Hirao, Kazuyuki

2002-01-01

This letter presents an investigation of crystalline relief grating structures induced by irradiation of near-infrared femtosecond laser pulses on an amorphous inorganic (In 2 O 3 +1 wt % TiO 2 ) film. The shapes of crystallized relief structures were sensitive to the scanning rate and the focused point height of irradiation, and the optimized irradiation condition gave cone-shaped cross section structures. Selective wet etching on unirradiated amorphous regions using a 3% hydrochloric acid solution could make sharper relief grating structures of crystalline regions. Diffraction efficiency of the relief grating structures with Au coating was measured, and it was confirmed that first-order diffraction, efficiencies were approximately 40% and 20% for etched and nonetched samples, respectively

Mechanical properties of hot-pressed Al-4.5 wt. % Cu/WC composite

Directory of Open Access Journals (Sweden)

Samaneh Bernoosi

2014-12-01

Full Text Available In this study, the elemental powders of aluminum and copper were initially subjected to mechanical alloying using an attrition ball mill under argon atmosphere to produce an Al-4.5 wt% Cu powder alloy. The WC nanoparticles were then added to the powder alloy and milled in a planetary ball mill to explore the role of the WC nanoparticles on the mechanical properties of the fabricated composite powder. The experimental results revealed that a solid solution of Al-Cu could be formed after MA and a good dispersion of the WC nanoparticles in the aluminum matrix was obtained as characterized using X-ray diffraction and scanning electron microscopy, respectively. The results of hardness and compression tests of the hot pressed composites indicated that the MA followed by the hot-press processes was successful to fabricate an alloy and a metal matrix composite with considerable mechanical properties. However, a decreasing trend in the hardness and strength of the composites with the WC contents of more than 5wt% was observed. The maximum values of 260 HV and 575 MPa were obtained for a composite containing 5 wt% of nano ceramic particles.

Cytochrome P450 20A1 in zebrafish: Cloning, regulation and potential involvement in hyperactivity disorders

International Nuclear Information System (INIS)

Lemaire, Benjamin; Kubota, Akira; O'Meara, Conor M.; Lamb, David C.; Tanguay, Robert L.; Goldstone, Jared V.; Stegeman, John J.

2016-01-01

Cytochrome P450 (CYP) enzymes for which there is no functional information are considered “orphan” CYPs. Previous studies showed that CYP20A1, an orphan, is expressed in human hippocampus and substantia nigra, and in zebrafish (Danio rerio) CYP20A1 maternal transcript occurs in eggs, suggesting involvement in brain and in early development. Moreover, hyperactivity is reported in humans with chromosome 2 microdeletions including CYP20A1. We examined CYP20A1 in zebrafish, including impacts of chemical exposure on expression. Zebrafish CYP20A1 cDNA was cloned, sequenced, and aligned with cloned human CYP20A1 and predicted vertebrate orthologs. CYP20A1s share a highly conserved N-terminal region and unusual sequences in the I-helix and the heme-binding CYP signature motifs. CYP20A1 mRNA expression was observed in adult zebrafish organs including the liver, heart, gonads, spleen and brain, as well as the eye and optic nerve. Putative binding sites in proximal promoter regions of CYP20A1s, and response of zebrafish CYP20A1 to selected nuclear and xenobiotic receptor agonists, point to up-regulation by agents involved in steroid hormone response, cholesterol and lipid metabolism. There also was a dose-dependent reduction of CYP20A1 expression in embryos exposed to environmentally relevant levels of methylmercury. Morpholino knockdown of CYP20A1 in developing zebrafish resulted in behavioral effects, including hyperactivity and a slowing of the optomotor response in larvae. The results suggest that altered expression of CYP20A1 might be part of a mechanism linking methylmercury exposure to neurobehavioral deficits. The expanded information on CYP20A1 brings us closer to “deorphanization”, that is, identifying CYP20A1 functions and its roles in health and disease. - Highlights: • The “orphan” CYP20A1 was cloned from zebrafish and its sequence analyzed. • Knockdown of CYP20A1 reduced an optomotor response and elicited bursts of activity. • Effects of

Cytochrome P450 20A1 in zebrafish: Cloning, regulation and potential involvement in hyperactivity disorders

Energy Technology Data Exchange (ETDEWEB)

Lemaire, Benjamin; Kubota, Akira; O' Meara, Conor M. [Biology Department, Woods Hole Oceanographic Institution, Woods Hole, MA (United States); Lamb, David C. [Institute of Life Science, Medical School, Swansea University, Swansea (United Kingdom); Tanguay, Robert L. [Department of Environmental and Molecular Toxicology, Oregon State University, Corvallis, OR (United States); Goldstone, Jared V. [Biology Department, Woods Hole Oceanographic Institution, Woods Hole, MA (United States); Stegeman, John J., E-mail: jstegeman@whoi.edu [Biology Department, Woods Hole Oceanographic Institution, Woods Hole, MA (United States)

2016-04-01

Cytochrome P450 (CYP) enzymes for which there is no functional information are considered “orphan” CYPs. Previous studies showed that CYP20A1, an orphan, is expressed in human hippocampus and substantia nigra, and in zebrafish (Danio rerio) CYP20A1 maternal transcript occurs in eggs, suggesting involvement in brain and in early development. Moreover, hyperactivity is reported in humans with chromosome 2 microdeletions including CYP20A1. We examined CYP20A1 in zebrafish, including impacts of chemical exposure on expression. Zebrafish CYP20A1 cDNA was cloned, sequenced, and aligned with cloned human CYP20A1 and predicted vertebrate orthologs. CYP20A1s share a highly conserved N-terminal region and unusual sequences in the I-helix and the heme-binding CYP signature motifs. CYP20A1 mRNA expression was observed in adult zebrafish organs including the liver, heart, gonads, spleen and brain, as well as the eye and optic nerve. Putative binding sites in proximal promoter regions of CYP20A1s, and response of zebrafish CYP20A1 to selected nuclear and xenobiotic receptor agonists, point to up-regulation by agents involved in steroid hormone response, cholesterol and lipid metabolism. There also was a dose-dependent reduction of CYP20A1 expression in embryos exposed to environmentally relevant levels of methylmercury. Morpholino knockdown of CYP20A1 in developing zebrafish resulted in behavioral effects, including hyperactivity and a slowing of the optomotor response in larvae. The results suggest that altered expression of CYP20A1 might be part of a mechanism linking methylmercury exposure to neurobehavioral deficits. The expanded information on CYP20A1 brings us closer to “deorphanization”, that is, identifying CYP20A1 functions and its roles in health and disease. - Highlights: • The “orphan” CYP20A1 was cloned from zebrafish and its sequence analyzed. • Knockdown of CYP20A1 reduced an optomotor response and elicited bursts of activity. • Effects of

Densification, phase stability and in vitro biocompatibility property of hydroxyapatite-10 wt% silver composites.

Science.gov (United States)

Nath, Shekhar; Kalmodia, Sushma; Basu, Bikramjit

2010-04-01

In this paper, we demonstrate how a simple fabrication route, i.e., pressureless sintering of mechanically mixed powders can be employed to develop hydroxyapatite (HAp, Ca(10)(PO(4))(6)(OH)(2))-silver (Ag) bioceramic composites with superior combination of physical (hardness, toughness), non-cytotoxicity, cytocompatiblity and anti-microbial property. The densification results show that such composites can be sintered at 1200 degrees C for 2 h near to theoretical density (>98% rho(th).) An important observation is that the dissociation of HAp phase can be prevented during sintering up to 1300 degrees C for 2 h in HAp-10 wt% Ag composites. The stability of HAp in presence of silver is discussed in reference to the results obtained using XRD, FTIR and Raman spectroscopy. The hardness values of the composites are comparable (approximately 6.5 GPa) to that of pure HAp, despite of the presence of softer Ag particles. The sintered composites exhibit modest crack growth resistance property and their toughness varies in the range of 0.9-1.2 MPa m(0.5), depending on sintering temperature. For selected samples, the in vitro characterization was performed using mouse fibroblast (L929) and human osteosarcoma (MG63) cell lines. The combination of biochemical assays (MTT, ALP and osteocalcin) confirm that HAp-10 wt% Ag biocomposites have comparable or even better cellular viability, osteogenic differentiation and bone mineralization as well as osteoinduction property. Antibacterial experiments involving gram-negative bacteria, Escherichia coli confirm excellent bactericidal property of HAp-10 wt% Ag composites, sintered using mechanically mixed powders.

Microanalysis on the Hydrogen Ion Irradiated 50 wt pct TiC-C Films

Institute of Scientific and Technical Information of China (English)

Hui JIANG; Yaoguang LIU; Ningkang HUANG

2007-01-01

The 50 wt pct TiC-C films were prepared on stainless steel substrates by using a technique of ion beam mixing.These films were irradiated by hydrogen ion beam with a dose of 1×1018 ions/cm2 and an energy of 5 keV.Microanalysis of X-ray photoelectron spectroscopy (XPS) and secondary ion mass spectroscopy (SIMS) were used to analyze the films before and after hydrogen ion irradiation and to study the mechanism of hydrogen resistance.

Microstructure, Mechanical Properties and Corrosion Behavior of Porous Mg-6 wt.% Zn Scaffolds for Bone Tissue Engineering

Science.gov (United States)

Yan, Yang; Kang, Yijun; Li, Ding; Yu, Kun; Xiao, Tao; Wang, Qiyuan; Deng, Youwen; Fang, Hongjie; Jiang, Dayue; Zhang, Yu

2018-03-01

Porous Mg-based scaffolds have been extensively researched as biodegradable implants due to their attractive biological and excellent mechanical properties. In this study, porous Mg-6 wt.% Zn scaffolds were prepared by powder metallurgy using ammonium bicarbonate particles as space-holder particles. The effects of space-holder particle content on the microstructure, mechanical properties and corrosion resistance of the Mg-6 wt.% Zn scaffolds were studied. The mean porosity and pore size of the open-cellular scaffolds were within the range 6.7-52.2% and 32.3-384.2 µm, respectively. Slight oxidation was observed at the grain boundaries and on the pore walls. The Mg-6 wt.% Zn scaffolds were shown to possess mechanical properties comparable with those of natural bone and had variable in vitro degradation rates. Increased content of space-holder particles negatively affected the mechanical behavior and corrosion resistance of the Mg-6 wt.% Zn scaffolds, especially when higher than 20%. These results suggest that porous Mg-6 wt.% Zn scaffolds are promising materials for application in bone tissue engineering.

NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

DEFF Research Database (Denmark)

Svenstrup, K; Møller, R S; Christensen, J

2011-01-01

or signs are found. Mutations in the NIPA1 gene have been reported to cause spastic paraplegia type 6 (SPG6) in 10 families. SPG6 is a rare form of autosomal dominantly inherited HSP associated with a pure phenotype; however, in one complex SPG6 family, idiopathic generalized epilepsy (IGE) has been...... described and in addition, recurrent microdeletions at 15q11.2 including NIPA1 have been identified in patients with IGE. The purpose was to identify NIPA1 mutations in patients with pure and complex HSP. Methods: Fifty-two patients with HSP were screened for mutations in NIPA1. Results: One previously...... reported missense mutation c.316G>A, p.Gly106Arg, was identified in a complex HSP patient with spastic dysarthria, facial dystonia, atrophy of the small hand muscles, upper limb spasticity, and presumably IGE. The epilepsy co-segregated with HSP in the family. Conclusion: NIPA1 mutations were rare in our...

Mechanical alloying and sitering of TI - 10WT.% MG powders

CSIR Research Space (South Africa)

Machio, Christopher N

2009-06-01

Full Text Available A Ti-10wt.%Mg powder alloy has been produced by mechanical alloying. Elemental powders of Ti and Mg were ball milled in a Zoz-Simoloyer CM01 for 16 and 20 hours under argon. Mechanical alloying was followed by XRD, SEM and particle size analysis...

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.

Science.gov (United States)

Bi, Weimin; Cheung, Sau-Wai; Breman, Amy M; Bacino, Carlos A

2016-10-01

Deletions in the 4p16.3 region cause Wolf-Hirschhorn syndrome, a well known contiguous microdeletion syndrome with the critical region for common phenotype mapped in WHSCR2. Recently, duplications in 4p16.3 were reported in three patients with developmental delay and dysmorphic features. Through chromosomal microarray analysis, we identified 156 patients with a deletion (n = 109) or duplication (n = 47) in 4p16.3 out of approximately 60,000 patients analyzed by Baylor Miraca Genetics Laboratories. Seventy-five of the postnatally detected deletions encompassed the entire critical region, 32 (43%) of which were associated with other chromosome rearrangements, including six patients (8%) that had a duplication adjacent to the terminal deletion. Our data indicate that Wolf-Hirschhorn syndrome deletions with an adjacent duplication occur at a higher frequency than previously appreciated. Pure deletions (n = 14) or duplications (n = 15) without other copy number changes distal to or inside the WHSCR2 were identified for mapping of critical regions. Our data suggest that deletion of the segment from 0.6 to 0.9 Mb from the terminus of 4p causes a seizure phenotype and duplications of a region distal to the previously defined smallest region of overlap for 4p16.3 microduplication syndrome are associated with neurodevelopmental problems. We detected seven Wolf-Hirschhorn syndrome deletions and one 4p16.3 duplication prenatally; all of the seven are either >8 Mb in size and/or associated with large duplications. In conclusion, our study provides deeper insight into the molecular mechanisms, the critical regions and effective prenatal diagnosis for 4p16.3 deletions/ duplications. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Strain-softening behavior of an Fe-6.5 wt%Si alloy during warm deformation and its applications

International Nuclear Information System (INIS)

Fu Huadong; Zhang Zhihao; Yang Qiang; Xie Jianxin

2011-01-01

Research highlights: → An Fe-6.5 wt%Si alloy exhibits strain-softening behavior after large deformation. → The decrease of the order degree is responsible for the strain-softening behavior. → The strain-softening behavior of Fe-6.5 wt%Si alloy can be applied in cold rolling. → An Fe-6.5 wt%Si thin strip with thickness of 0.20 mm is fabricated by cold rolling. - Abstract: An Fe-6.5 wt%Si alloy with columnar grains was compressed at a temperature below its recrystallization temperature. The Vickers hardness and structure of the alloy before and after deformation were investigated. The results showed that with an increase in the degree of deformation, Vickers hardness of the alloy initially increased rapidly and then decreased slowly, indicating that the alloy had a strain-softening behavior after a large deformation. Meanwhile, the work-hardening exponent of the alloy decreased significantly. Transmission electron microscopy confirmed that the decrease of the order degree was responsible for the strain-softening behavior of the deformed alloy. Applying its softening behavior, the Fe-6.5 wt%Si alloy with columnar grains was rolled at 400 deg. C and then at room temperature. An Fe-6.5 wt%Si thin strip with thickness of 0.20 mm was fabricated. The surface of the strip was bright and had no obvious edge cracks.

Susceptibility of cold-worked zirconium-2.5 wt% niobium alloy to delayed hydrogen cracking

International Nuclear Information System (INIS)

Coleman, C.E.

1976-01-01

Notched tensile specimens of cold-worked zirconium-2.5 wt% niobium alloy have been stressed at 350 K and 520 K. At 350 K, above a possible threshold stress of 200 MPa, specimens exhibited delayed failure which was attributed to hydride cracking. Metallography showed that hydrides accumulated at notches and tips of growing cracks. The time to failure appeared to be independent of hydrogen content over the range 7 to 100 ppm hydrogen. Crack growth rates of about 10 -10 m/s deduced from fractography were in the same range as those necessary to fracture pressure tubes. The asymptotic stress intensity for delayed failure, Ksub(1H), appeared to be about 5 MPa√m. With this low value of Ksub(1H) small surface flaws may propagate in pressure tubes which contain large residual stresses. Stress relieving and modified rolling procedures will reduce the residual stresses to such an extent that only flaws 12% of the wall thickness or greater will grow. At 520 K no failures were observed at times a factor of three greater than times to failure at 350 K. Zirconium-2.5 wt% niobium appears to be safe from delayed hydrogen cracking at the reactor operating temperature. (author)

Post-irradiation examination of A1-61 wt % U3Si fuel rods from the NRU reactor

International Nuclear Information System (INIS)

Sears, D.F.; Wang, N.

1997-09-01

This paper describes the post-irradiation examination of 4 intact low-enrichment uranium (LEU) fuel rods from the national research universal (NRU) reactor at the Chalk River Laboratories of AECL. The rods were irradiated during the period 1993 through 1995, under typical driver fuel operating conditions in NRU, i.e., nominal D 2 0 coolant inlet temperature 37 degrees C, inlet pressure 654 kPa and mass flow 12.4 L/s. Irradiation exposures ranged from 147 to 251 full-power days, corresponding to 40 to 84 atom % 235 U burnup. The maximum rod power was ∼2 MW, with element linear power ratings up to 68 kW/m. Post-irradiation examinations, conducted in 1997, focused on optical metallography to measure cladding oxide thickness and fuel core and cladding microstructural examinations. The cladding oxide was approximately 24 μm thick at the mid-plane of fuel rods irradiated to 251 full-power days, with small areas up to 34 μm thick on the fins. The cladding retained significant ductility after irradiation, and its microstructure appeared unchanged. Fuel core diametral increases were small (up to 4%) and within the range previously observed on A1-61 wt % U 3 Si fuel irradiated in the NRU reactor. (author)

Hot deformation of U-9 wt% Mo

International Nuclear Information System (INIS)

Kapoor, R.; Thota, M.K.; Chakravartty, J.K.; Basak, C.B.; Jha, S.K.; Hussain, M.M.

2016-01-01

Uranium – 9 wt% molybdenum in the as-extruded condition was deformed in compression in vacuum at temperatures from 850 to 1000 °C and strain rates from 3 × 10"−"3 to 1 s"−"1. The strain rate sensitivity (m) was computed and plotted as iso-strain rate sensitivity contour plots. m was around 0.33 at 950–1000 °C at strain rate of 3 × 10"−"3 s"−"1. Electron backscatter diffraction showed that at 1000 °C–3 × 10"−"3 s"−"1 grains refined, fraction of high angle boundaries increased and the average local misorientation reduced, all indicative of the occurrence of dynamic recrystallization. In comparison, at 950 and 900 °C both the fraction of low angle boundaries and local misorientation was higher. At 1000 °C–3 × 10"−"3 s"−"1 the [111] direction was aligned along the compression axis, whereas at lower temperature of 900 °C and 3 × 10"−"3 s"−"1 it was the orientations close to [001]. - Highlights: • U-9Mo was deformed from 850 to 1000 °C and 3 × 10"−"3 to 1 s"−"1. • Strain rate sensitivity of 0.33 was observed at 1000 °C–3 × 10"−"3 s"−"1. • At 1000 °C the dominant texture was along the compression axis.

Male infertility associated with de novo pericentric inversion of chromosome 1.

Science.gov (United States)

Balasar, Özgür; Zamani, Ayşe Gül; Balasar, Mehmet; Acar, Hasan

2017-12-01

Inversion occurs after two breaks in a chromosome have happened and the segment rotates 180° before reinserting. Inversion carriers have produced abnormal gametes if there is an odd number crossing- over between the inverted and the normal homologous chromosomes causing a duplication or deletion. Reproductive risks such as infertility, abortion, stillbirth and birth of malformed child would be expected in that case. A 54-year- old male patient was consulted to our clinic for primary infertility. The routine chromosome study were applied using peripheral blood lymphocyte cultures and analyzed by giemsa-trypsin-giemsa (GTG) banding, and centromer banding (C-banding) stains. Y chromosome microdeletions in the azoospermia factor (AZF) regions were analyzed with polymerase chain reaction. Additional test such as fluorescence in situ hybridization (FISH) was used to detect the sex-determining region of the Y chromosome (SRY). Semen analysis showed azoospermia. A large pericentric inversion of chromosome 1 46,XY, inv(1) (p22q32) was found in routine chromosome analysis. No microdeletions were seen in AZF regions. In our patient the presence of SRY region was observed by using FISH technique with SRY-specific probe. Men who have pericentric inversion of chromosome 1, appear to be at risk for infertility brought about by spermatogenic breakdown. The etiopathogenic relationship between azoospermia and pericentric inversion of chromosome 1 is discussed.

Effect of iron addition on the work-hardening characteristics of Al-16 wt%Ag alloy

International Nuclear Information System (INIS)

Abd El-Salam, F.; Mahmoud, M.A.; Abd El-Khalek, A.M.; Nada, R.H.

2002-01-01

The effect of pre-aging time (up to 120 min) and temperatures (428-498 K) on the stress-strain characteristics of Al-16 wt%Ag and Al-16 wt%Ag-0.28 wt%Fe alloys was investigated at different deformation temperatures in the range 353-413 K. The tensile parameters measured for both alloys showed general increase with increasing pre-aging time at 428 and 458 K, while the samples pre-aged at 498 K showed initial softening up to pre-aging time of 60 min followed by increased hardening for longer pre-aging times. The Fe-free samples were generally harder than the ternary samples. The activation energy of the fracture mechanism in both alloys was around 28 kJ/mol

Wild-type male offspring of fmr-1+/- mothers exhibit characteristics of the fragile X phenotype.

Science.gov (United States)

Zupan, Bojana; Toth, Miklos

2008-10-01

Fragile X syndrome is an X-linked disorder caused by the inactivation of the FMR-1 gene with symptoms ranging from impaired cognitive functions to seizures, anxiety, sensory abnormalities, and hyperactivity. Males are more severely affected than heterozygote (H) females, who, as carriers, have a 50% chance of transmitting the mutated allele in each pregnancy. fmr-1 knockout (KO) mice reproduce fragile X symptoms, including hyperactivity, seizures, and abnormal sensory processing. In contrast to the expectation that wild-type (WT) males born to H (fmr-1(+/-)) mothers (H>WT) are behaviorally normal and indistinguishable from WT males born to WT mothers (WT>WT); here, we show that H>WT offspring are more active than WT>WT offspring and that their hyperactivity is similar to male KO mice born to H or KO (fmr-1(-/-)) mothers (H>KO/KO>KO). H>WT mice, however, do not exhibit seizures or abnormal sensory processing. Consistent with their hyperactivity, the effect of the D2 agonist quinpirole is reduced in H>WT as well as in H>KO and KO>KO mice compared to WT>WT offspring, suggesting a diminished feedback inhibition of dopamine release. Our data indicate that some aspects of hyperactivity and associated dopaminergic changes in 'fragile X' mice are a maternal fmr-1 genotype rather than an offspring fmr-1 genotype effect.

RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome.

Science.gov (United States)

Corley, Susan M; Canales, Cesar P; Carmona-Mora, Paulina; Mendoza-Reinosa, Veronica; Beverdam, Annemiek; Hardeman, Edna C; Wilkins, Marc R; Palmer, Stephen J

2016-06-13

Williams-Beuren Syndrome (WBS) is a genetic disorder associated with multisystemic abnormalities, including craniofacial dysmorphology and cognitive defects. It is caused by a hemizygous microdeletion involving up to 28 genes in chromosome 7q11.23. Genotype/phenotype analysis of atypical microdeletions implicates two evolutionary-related transcription factors, GTF2I and GTF2IRD1, as prime candidates for the cause of the facial dysmorphology. Using a targeted Gtf2ird1 knockout mouse, we employed massively-parallel sequencing of mRNA (RNA-Seq) to understand changes in the transcriptional landscape associated with inactivation of Gtf2ird1 in lip tissue. We found widespread dysregulation of genes including differential expression of 78 transcription factors or coactivators, several involved in organ development including Hey1, Myf6, Myog, Dlx2, Gli1, Gli2, Lhx2, Pou3f3, Sox2, Foxp3. We also found that the absence of GTF2IRD1 is associated with increased expression of genes involved in cellular proliferation, including growth factors consistent with the observed phenotype of extreme thickening of the epidermis. At the same time, there was a decrease in the expression of genes involved in other signalling mechanisms, including the Wnt pathway, indicating dysregulation in the complex networks necessary for epidermal differentiation and facial skin patterning. Several of the differentially expressed genes have known roles in both tissue development and neurological function, such as the transcription factor Lhx2 which regulates several genes involved in both skin and brain development. Gtf2ird1 inactivation results in widespread gene dysregulation, some of which may be due to the secondary consequences of gene regulatory network disruptions involving several transcription factors and signalling molecules. Genes involved in growth factor signalling and cell cycle progression were identified as particularly important for explaining the skin dysmorphology observed in this

Disease: H01877 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H01877 Chromosome 15q13.3 microdeletion syndrome Chromosome 15q13.3 microdeletion ...syndrome causes a spectrum of cognitive disorders. The syndrome is caused by microdeletions in the 15q13.2q-...and attention deficit hyperactivity disorder (ADHD). The neuropsychiatric phenotypes of 15q13.3 microdeletion...ognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome. ... JOURNAL ... J Autism Dev Disord 46:1455-63 (2016) DOI:10.1007/s10803-015-2694-0 ...

19q13.12 microdeletion syndrome fibroblasts display abnormal storage of cholesterol and sphingolipids in the endo-lysosomal system.

Science.gov (United States)

Zhao, Kexin; van der Spoel, Aarnoud; Castiglioni, Claudia; Gale, Sarah; Fujiwara, Hideji; Ory, Daniel S; Ridgway, Neale D

2018-06-01

Microdeletions in 19q12q13.12 cause a rare and complex haploinsufficiency syndrome characterized by intellectual deficiency, developmental delays, and neurological movement disorders. Variability in the size and interval of the deletions makes it difficult to attribute the complex clinical phenotype of this syndrome to an underlying gene(s). As an alternate approach, we examined the biochemical and metabolic features of fibroblasts from an affected individual to derive clues as to the molecular basis for the syndrome. Immunofluorescence and electron microscopy of affected fibroblasts revealed an abnormal endo-lysosomal compartment that was characterized by rapid accumulation of lysosomotropic dyes, elevated LAMP1 and LAMP2 expression and vacuoles containing membrane whorls, common features of lysosomal lipid storage disorders. The late endosomes-lysosomes (LE/LY) of affected fibroblasts accumulated low-density lipoprotein cholesterol, and displayed reduced cholesterol esterification and increased de novo cholesterol synthesis, indicative of defective cholesterol transport to the endoplasmic reticulum. Affected fibroblasts also had increased ceramide and sphingolipid mass, altered glycosphingolipid species and accumulation of a fluorescent lactosylceramide probe in LE/LY. Autophagosomes also accumulated in affected fibroblasts because of decreased fusion with autolysosomes, a defect associated with other lysosomal storage diseases. Attempts to correct the cholesterol/sphingolipid storage defect in fibroblasts with cyclodextrin, sphingolipid synthesis inhibitors or by altering ion transport were unsuccessful. Our data show that 19q13.12 deletion fibroblasts have abnormal accumulation of cholesterol and sphingolipids in the endo-lysosomal system that compromises organelle function and could be an underlying cause of the clinical features of the syndrome. Copyright © 2018 Elsevier B.V. All rights reserved.

Electrodeposition, characterization and corrosion behaviour of tin-20 wt.% zinc coatings electroplated from a non-cyanide alkaline bath

International Nuclear Information System (INIS)

Dubent, S.; Mertens, M.L.A.D.; Saurat, M.

2010-01-01

Tin-zinc alloy electroplated coatings are recognized as a potential alternative to toxic cadmium as corrosion resistant deposits because they combine the barrier protection of tin with the cathodic protection afforded by zinc. The coatings containing 20 wt.% zinc, balance tin, offer excellent corrosion protection for steel and do not form gross voluminous white corrosion products like pure zinc or high zinc alloy deposits. In this study, the effects of variables of the process (i.e. cathodic current density, pH and temperature) on deposit composition have been evaluated using a Hull cell to obtain 20 wt.% zinc alloy coatings. The tin-20 wt.% zinc deposits, produced with electroplating optimized conditions, were characterized by scanning electron microscopy (SEM), energy dispersive X-ray spectrometry (EDS), X-ray fluorescence spectrometry (XRF) and glow discharge optical emission spectrometry (GDOES). On the other hand, the corrosion behaviour of tin-zinc alloy electroplated coatings on steel has been investigated using electrochemical methods in a 3 wt.% NaCl solution and the salt spray test. The performance of the deposits was compared with cadmium and zinc-nickel electrodeposited coatings. The results show that the corrosion resistance of tin-20 wt.% zinc alloy coating is superior to that of cadmium and zinc-12 wt.% nickel coatings. Finally, sliding friction tests were conducted.

Effect of Cu content on the microstructure evolution and fracture behavior of Al-Mg-Si-xCu (x  =  0, 1, 2 and 4 wt.%) alloys

Science.gov (United States)

Rahman, Tanzilur; Sakib Rahman, Saadman; Zurais Ibne Ashraf, Md; Ibn Muneer, Khalid; Rashed, H. M. Mamun Al

2017-10-01

Lightweighting automobiles can dramatically reduce their consumption of fossil fuels and the atmospheric CO2 concentration. Heat-treatable Al-Mg-Si has attracted a great deal of research interest due to their high strength-to-weight ratio, good formability, and resistance to corrosion. In the past, it has been reported that the mechanical properties of Al-Mg-Si can be ameliorated by the addition of Cu. However, determining the right amount of Cu content still remains a challenge. To address this the microstructure evolution, phase transformation, mechanical properties, and fracture behavior of Al-Mg-Si-xCu (x  =  0, 1, 2 and 4 wt.%) alloys were studied through optical and field emission scanning electron microscopy, energy-dispersive x-ray spectroscopy, differential scanning calorimetry, hardness measurements, and tensile tests. The obtained results indicate that the addition of Cu of up to 4 wt.% improved the hardness (17.5% increase) of the alloy, but reduced its ductility. Moreover, an alloy with 4 wt.% Cu fractured in a brittle manner while Al-Mg-Si showed ductile fracture mechanism. In addition, differential scanning calorimetry analysis revealed five exothermic peaks in all Cu containing alloys. Our results also showed that θʹ and Qʹ-type intermetallic phases formed owing to the addition of Cu, which affected the strength and ductility. Thus, Al-Mg-Si-xCu alloy with the right amount of Cu content serves as an excellent candidate for replacing more costly alloys for cost-effective lightweighting and other applications.

Experimental approach to IGF-1 therapy in CCl4-induced acute liver damage in healthy controls and mice with partial IGF-1 deficiency.

Science.gov (United States)

Morales-Garza, Luis A; Puche, Juan E; Aguirre, Gabriel A; Muñoz, Úrsula; García-Magariño, Mariano; De la Garza, Rocío G; Castilla-Cortazar, Inma

2017-05-04

Cell necrosis, oxidative damage, and fibrogenesis are involved in cirrhosis development, a condition in which insulin-like growth factor 1 (IGF-1) levels are diminished. This study evaluates whether the exogenous administration of low doses of IGF-1 can induce hepatoprotection in acute carbon tetrachloride (CCl 4 )-induced liver damage compared to healthy controls (Wt Igf +/+ ). Additionally, the impact of IGF-1 deficiency on a damaged liver was investigated in mice with a partial deficit of this hormone (Hz Igf1 +/- ). Three groups of 25 ± 5-week-old healthy male mice (Wt Igf +/+ ) were included in the protocol: untreated controls (Wt). Controls that received CCl 4 (Wt + CCl 4 ) and Wt + CCl 4 were treated subcutaneously with IGF-1 (2 µg/100 g body weight/day) for 10 days (Wt + CCl 4  + IGF1). In parallel, three IGF-1-deficient mice (Hz Igf1 +/- ) groups were studied: untreated Hz, Hz + CCl 4 , and Hz + CCl 4  + IGF-1. Microarray and real-time quantitative polymerase chain reaction (RT-qPCR) analyses, serum aminotransferases levels, liver histology, and malondialdehyde (MDA) levels were assessed at the end of the treatment in all groups. All data represent mean ± SEM. An altered gene coding expression pattern for proteins of the extracellular matrix, fibrosis, and cellular protection were found, as compared to healthy controls, in which IGF-1 therapy normalized in the series including healthy mice. Liver histology showed that Wt + CCl 4  + IGF1 mice had less oxidative damage, fibrosis, lymphocytic infiltrate, and cellular changes when compared to the Wt + CCl 4 . Moreover, there was a correlation between MDA levels and the histological damage score (Pearson's r = 0.858). In the IGF-1-deficient mice series, similar findings were identified, denoting a much more vulnerable hepatic parenchyma. IGF1 treatment improved the biochemistry, histology, and genetic expression of pro-regenerative and cytoprotective factors in both series

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

Science.gov (United States)

Demily, Caroline; Franck, Nicolas

2016-11-01

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

Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.

Science.gov (United States)

Staropoli, John F; Xin, Winnie; Sims, Katherine B

2010-11-01

Norrie disease is a rare X-linked congenital retinal vasculopathy that may be accompanied by sensorineural deafness, mental retardation, and other neurological deficits. Here we present a family in which Norrie disease co-segregated with either early-onset idiopathic pulmonary hypertension or sudden death preceded by a period of progressive dyspnea. Neither Norrie disease, nor its atypical variants described to date, have been associated with this extended clinical phenotype. Molecular analysis of the Norrie disease gene (NDP) and adjacent loci was performed by multiplex ligation-dependent probe amplification and comparative genomic hybridisation. Affected males in this family showed an inherited hemizygous deletion restricted to NDP and two immediately telomeric genes, monoamine oxidase-B (MAO-B) and monoamine oxidase-A (MAO-A), which encode closely related enzymes that metabolize biogenic amines including serotonin, dopamine, and norepinephrine. Sequencing of the deletion junction showed an unusual pattern in which a region of microhomology flanked intervening genomic sequence. Because abnormalities of biogenic amines, particularly serotonin, have been implicated in the pathophysiology of pulmonary hypertension, we propose that presumed MAO deficiency in these patients may represent a novel risk factor for pulmonary hypertension, particularly forms with very early onset. Fine-mapping of other microdeletions at this locus may provide insights into additional mechanisms for nonrecurrent genomic rearrangements at this and other chromosomal loci.

Electrochemical studies and analysis of 1–10 wt% UCl3 concentrations in molten LiCl–KCl eutectic

International Nuclear Information System (INIS)

Hoover, Robert O.; Shaltry, Michael R.; Martin, Sean; Sridharan, Kumar; Phongikaroon, Supathorn

2014-01-01

Three electrochemical methods – cyclic voltammetry (CV), chronopotentiometry (CP), and anodic stripping voltammetry (ASV) – were applied to solutions of up to 10 wt% UCl 3 in the molten LiCl–KCl eutectic salt at 500 °C to determine electrochemical properties and behaviors and to help provide a scientific basis for the development of an in situ electrochemical probe for determining the concentration of uranium in a used nuclear fuel electrorefiner. Diffusion coefficients of UCl 4 and UCl 3 were calculated to be (6.72 ± 0.360) × 10 −6 cm 2 /s and (1.04 ± 0.17) × 10 −5 cm 2 /s, respectively. Apparent standard reduction potentials were determined to be (−0.381 ± 0.013) V and (−1.502 ± 0.076) V vs. 5 mol% Ag/AgCl or (−1.448 ± 0.013) V and (−2.568 ± 0.076) V vs. Cl 2 /Cl − for the U(IV)/U(III) and U(III)/U redox couples, respectively. In comparing this data with supercooled thermodynamic data to determine activity coefficients, the thermodynamic database used was important with resulting activity coefficients ranging from 2.34 × 10 −3 to 1.08 × 10 −2 for UCl 4 and 4.94 × 10 −5 to 4.50 × 10 −4 for UCl 3 . Of anodic stripping voltammetry and cyclic voltammetry anodic or cathodic peaks, the CV cathodic peak height divided by square root of scan rate was shown to be the most reliable method of determining UCl 3 concentration in the molten salt

Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

Directory of Open Access Journals (Sweden)

Egger JI

2014-03-01

Full Text Available Jos I M Egger,1–3 Willem M A Verhoeven,1,4 Wim Verbeeck,5 Nicole de Leeuw61Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, the Netherlands; 2Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, the Netherlands; 3Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, the Netherlands; 4Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, the Netherlands; 5Vincent van Gogh Institute for Psychiatry, Centre for Autism and ADHD, Venray, the Netherlands; 6Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the NetherlandsAbstract: The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2 deletion of approximately 600 kb (BP4–BP5 that includes the SH2B1 gene that is reported to be causative for morbid obesity. This more centromeric deletion is most strongly related to autism spectrum susceptibility and is functionally different from the more distal 16p12.2p11.2 region, which includes the so-called atypical 16p11.2 BP2–BP3 deletion (approximately 220 kb presenting with developmental delay, behavioral problems and mild facial dysmorphisms. Here, an adult male with a long history of maladaptive behaviors is described who was referred for diagnostic assessment of his amotivational features. Extensive neuropsychological examination demonstrated rigid thinking, anxious beliefs, and ideas of reference in the presence of normal intelligence. Microarray analysis demonstrated a de novo 970 kb 16p11.2 BP1–BP4 microdeletion that can be regarded as explanatory for his behavioral profile. It is concluded that microdeletion syndromes are not exclusively related to intellectual disabilities and

Creep properties of Nb-1Zr and Nb-1Zr-0.1C

International Nuclear Information System (INIS)

Horak, J.A.; Egner, L.K.

1994-12-01

In the early 1980s a compact, lithium cooled, fast-energy spectrum nuclear reactor was selected for space applications requiring prolonged uninterrupted electrical power. This reactor was to be capable of generating up to 100 kilowatts of electricity for times up to seven years in space and thus was given the acronym SP-100. The material selected for the fuel cladding, reactor heat transport systems and structural components was Nb-1 wt % Zr (Nb-1Zr). In addition to commercial Nb-1Zr, modified alloys containing 100--200 wt ppM each of carbon and nitrogen and 900 ± 150 wt ppM carbon were also included, Type B Nb-1Zr and PWC-11, respectively. The SP-100 reactor was designed to operate at temperatures of 1290--1425 K. At these temperatures the principal mode of deformation for Nb-1Zr is creep, and creep strain of the fuel cladding limits the useful reactor lifetime. To develop a creep data base for design, safety and reliability analyses, uniaxial creep testing of Nb-1Zr, Type B Nb-1Zr and PWC-11 was conducted from 1250--1450 K at stresses from 5.0 MPa to 41.4 MPa. Methodology and test results are presented

Modification and aging precipitation behavior of hypereutectic Al-21wt.%Si alloy treated by P+Ce combination

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Liu Pei

2014-11-01

Full Text Available In the present study, the tested hypereutectic Al-21wt.%Si alloys were prepared by modifying the melt using different proportions of P and Ce, and then applying T6 heat treatment. The modification effects and mechanism of P+Ce complex modifier on the Si phase of hypereutectic Al-21wt.%Si alloy were studied, and the aging precipitation behavior after modification was characterized by means of tensile strength measurement, OM, SEM and TEM analysis. The results show that the massive primary silicon phase particles are significantly refined after modification, while the needle-like eutectic silicon crystals become fibrous and short. It was found that the mechanism of phosphorus modification on the primary silicon can be attributed to heterogeneous nucleation of AlP, while the modification mechanism of Ce can be explained by adsorbing-twinning theory. In the aged microstructure of the modified hypereutectic Al-21wt.%Si alloy, there existed some strengthening phases such as Al4Cu9, Al2Cu, AlCu3, and Al57Mn12. The P+Ce complex modifier not only affected the size of primary silicon and eutectic silicon, but also the aging behavior of alloys under the heat treatment process. When Al-21wt.%Si alloy was modified using 0.08%wt.P + 0.6wt.% Ce, the aging precipitates were dispersed uniformly in the alloy, and its mechanical properties at room and elevated temperatures are optimized (Rm = 287.6 MPa at RT, Rm = 210 MPa at 300 ℃.

Hydrogenation Properties of Mg-5 wt.% TiCr_10NbX (x=1,3,5) Composites by Mechanical Alloying Process

International Nuclear Information System (INIS)

Kim, Kyeong-Il; Hong, Tae-Whan

2011-01-01

Hydrogen and hydrogen energy have been recognized as clean energy sources and high energy carrier. Mg and Mg alloys are attractive hydrogen storage materials because of their lightweight and low cost materials with high hydrogen capacity (about 7.6 wt.%). However, the commercial applications of the Mg hydrides are currently hinder by its high absorption/desorption temperature, and very slow reaction kinetics. However, Ti and Ti based hydrogen storage alloys have been thought to be the third generation of alloys with a high hydrogen capacity, which makes it difficult to handle because of high reactivity. One of the most methods to develop kinetics was addition of transition metal. Therefore, Mg-Ti-Cr-Nb alloy was fabricated to add TiCrNb by hydrogen induced mechanical alloying. TiCrNb systems have included transition metals, low operating temperatures and hydrogen storage materials. As-received specimens were characterized using X-ray Diffraction analysis (XRD), Scanning Electron Microscopy (SEM) and Thermo Gravimetric analysis/Differential Scanning Calorimetry (TG/DSC). Mg-TiCr_10Nb systems were evaluated for hydrogen kinetics by Sievert’s type Pressure-Composition-Isotherm (PCI) equipment. The operating temperature range was 473, 523, 573 and 623 K.

Microstructural evolution in warm-rolled and cold-rolled strip cast 6.5 wt% Si steel thin sheets and its influence on magnetic properties

Energy Technology Data Exchange (ETDEWEB)

Wang, Xianglong, E-mail: 215454278@qq.com; Liu, Zhenyu, E-mail: zyliu@mail.neu.edu.cn; Li, Haoze; Wang, Guodong

2017-07-01

Highlights: • The experimental materials used in the study are based on strip casting. • Magnetic properties between warm rolled and cold rolled sheets are investigated. • Cold rolled 6.5% Si sheet has better magnetic properties than warm rolled sheet. • The γ and λ-fiber recrystallization textures can be optimized after cold rolling. • Cold rolling should be more suitable for fabricating 6.5% Si steel thin sheets. - Abstract: 6.5 wt% Si steel thin sheets were usually fabricated by warm rolling. In our previous work, 6.5 wt% Si steel thin sheets with good magnetic properties had been successfully fabricated by cold rolling based on strip casting. In the present work, the main purposes were to find out the influences of warm rolling and cold rolling on microstructures and magnetic properties of the thin sheets with the thickness of 0.2 mm, and to confirm which rolling method was more suitable for fabricating 6.5 wt% Si steel thin sheets. The results showed that the cold rolled sheet could obtain good surface quality and flatness, while the warm rolled sheet could not. The intensity of γ-fiber rolling texture (<1 1 1>//ND) of cold rolled specimen was weaker than that of the warm rolled specimen, especially for the {1 1 1}<1 1 2> component at surface layer and {1 1 1}<1 1 0> component at center layer. After the same annealing treatment, the cold rolled specimen, which had higher stored energy and weaker intensity of γ-fiber rolling texture, could obtain smaller recrystallization grain size, weaker intensity of γ-fiber recrystallization texture and stronger intensity of λ-fiber recrystallization texture. Therefore, due to the good surface quality, smaller recrystallization grain size and optimum recrystallization texture, the cold rolled specimen possessed improved magnetic properties, and cold rolling should be more suitable for fabricating 6.5 wt% Si steel thin sheets.

Frequency participation by using virtual inertia in wind turbines including energy storage

DEFF Research Database (Denmark)

Xiao, Zhao xia; Huang, Yu; Guerrero, Josep M.

2017-01-01

With the increase of wind generation penetration, power fluctuations and weak inertia may attempt to the power system frequency stability. In this paper, in order to solve this problem, a hierarchical control strategy is proposed for permanent magnet synchronous generator (PMSG) based wind turbine...... (WT) and battery unit (BU). A central controller forecasts wind speed and determines system operation states to be sent to the local controllers. These local controllers include MPPT, virtual inertia, and pitch control for the WT; and power control loops for the BU. The proposed approach achieve...

Automatic Artifact Removal in EEG of Normal and Demented Individuals Using ICA–WT during Working Memory Tasks

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Noor Kamal Al-Qazzaz

2017-06-01

Full Text Available Characterizing dementia is a global challenge in supporting personalized health care. The electroencephalogram (EEG is a promising tool to support the diagnosis and evaluation of abnormalities in the human brain. The EEG sensors record the brain activity directly with excellent time resolution. In this study, EEG sensor with 19 electrodes were used to test the background activities of the brains of five vascular dementia (VaD, 15 stroke-related patients with mild cognitive impairment (MCI, and 15 healthy subjects during a working memory (WM task. The objective of this study is twofold. First, it aims to enhance the recorded EEG signals using a novel technique that combines automatic independent component analysis (AICA and wavelet transform (WT, that is, the AICA–WT technique; second, it aims to extract and investigate the spectral features that characterize the post-stroke dementia patients compared to the control subjects. The proposed AICA–WT technique is a four-stage approach. In the first stage, the independent components (ICs were estimated. In the second stage, three-step artifact identification metrics were applied to detect the artifactual components. The components identified as artifacts were marked as critical and denoised through DWT in the third stage. In the fourth stage, the corrected ICs were reconstructed to obtain artifact-free EEG signals. The performance of the proposed AICA–WT technique was compared with those of two other techniques based on AICA and WT denoising methods using cross-correlation X C o r r and peak signal to noise ratio ( P S N R (ANOVA, p ˂ 0.05. The AICA–WT technique exhibited the best artifact removal performance. The assumption that there would be a deceleration of EEG dominant frequencies in VaD and MCI patients compared with control subjects was assessed with AICA–WT (ANOVA, p ˂ 0.05. Therefore, this study may provide information on post-stroke dementia particularly VaD and stroke

MYR1-Dependent Effectors Are the Major Drivers of a Host Cell's Early Response to Toxoplasma, Including Counteracting MYR1-Independent Effects.

Science.gov (United States)

Naor, Adit; Panas, Michael W; Marino, Nicole; Coffey, Michael J; Tonkin, Christopher J; Boothroyd, John C

2018-04-03

The obligate intracellular parasite Toxoplasma gondii controls its host cell from within the parasitophorous vacuole (PV) by using a number of diverse effector proteins, a subset of which require the aspartyl protease 5 enzyme (ASP5) and/or the recently discovered MYR1 protein to cross the PV membrane. To examine the impact these effectors have in the context of the entirety of the host response to Toxoplasma , we used RNA-Seq to analyze the transcriptome expression profiles of human foreskin fibroblasts infected with wild-type RH (RH-WT), RHΔ myr1 , and RHΔ asp5 tachyzoites. Interestingly, the majority of the differentially regulated genes responding to Toxoplasma infection are MYR1 dependent. A subset of MYR1 responses were ASP5 independent, and MYR1 function did not require ASP5 cleavage, suggesting the export of some effectors requires only MYR1. Gene set enrichment analysis of MYR1-dependent host responses suggests an upregulation of E2F transcription factors and the cell cycle and a downregulation related to interferon signaling, among numerous others. Most surprisingly, "hidden" responses arising in RHΔ myr1 - but not RH-WT-infected host cells indicate counterbalancing actions of MYR1-dependent and -independent activities. The host genes and gene sets revealed here to be MYR1 dependent provide new insight into the parasite's ability to co-opt host cell functions. IMPORTANCE Toxoplasma gondii is unique in its ability to successfully invade and replicate in a broad range of host species and cells within those hosts. The complex interplay of effector proteins exported by Toxoplasma is key to its success in co-opting the host cell to create a favorable replicative niche. Here we show that a majority of the transcriptomic effects in tachyzoite-infected cells depend on the activity of a novel translocation system involving MYR1 and that the effectors delivered by this system are part of an intricate interplay of activators and suppressors. Removal of all MYR1

Fabrication and tensile properties of rapidly solidified Cu-10wt. %Ni alloy. [Cu-10Ni

Energy Technology Data Exchange (ETDEWEB)

Baril, D; Angers, R; Baril, J [Dept. of Mining and Metallurgy, Laval Univ., Ste-Foy, Quebec (Canada)

1992-10-15

Cu-10wt.%Ni ribbons were produced by melt spinning and cut into small particles with a blade cutter mill. The powders were then hot consolidated to full density by hot pressing followed by hot extrusion. Tensile properties of the resulting pieces were measured. Cu-10wt.%Ni cast ingots were also hot extruded and mechanically tested to compare with the rapidly solidified alloy and to evaluate the possible benefits brought by the rapid solidification process.

Concept of large scale PV-WT-PSH energy sources coupled with the national power system

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Jurasz Jakub

2017-01-01

Full Text Available Intermittent/non-dispatchable energy sources are characterized by a significant variation of their energy yield over time. In majority of cases their role in energy systems is marginalized. However, even in Poland which is strongly dedicated to its hard and brown coal fired power plants, the wind generation in terms of installed capacity starts to play a significant role. This paper briefly introduces a concept of wind (WT and solar (PV powered pumped storage hydroelectricity (PSH which seems to be a viable option for solving the problem of the variable nature of PV and WT generation. Additionally we summarize the results of our so far conducted research on the integration of variable renewable energy sources (VRES to the energy systems and present conclusions which strictly refer to the prospects of large scale PV-WT-PSH operating as a part of the polish energy system.

Effect of {gamma}` and {gamma} (Ag{sub 2}Al) precipitates on the steady state creep of Al-16wt%Ag alloys with and without Zr addition

Energy Technology Data Exchange (ETDEWEB)

Deaf, G.H. [Ain Shams Univ., Cairo (Egypt). Dept. of Physics; Youssef, S.B. [Ain Shams Univ., Cairo (Egypt). Dept. of Physics; Mahmoud, M.A. [Ain Shams Univ., Cairo (Egypt). Dept. of Physics

1996-11-16

The steady state creep behaviour of Al-16 wt% Ag and Al-16 wt% Ag-0.1 wt% Zr alloys has been studied at constant load (= 137.2 MPa) and tested at different working temperatures for samples aged at temperatures favouring the formation of {gamma}` and {gamma} precipitates. It was found that addition of Zr to Al-16 wt% Ag alloy accelerates the precipitations {gamma}` and {gamma} due to the formation of the metastable phase Al{sub 3}Zr. For both alloys, two values of activation energy have been obtained as (34 {+-} 0.3) kJ/mol for viscous glide of dislocations due to the existence of {gamma}` precipitates and (68 {+-} 0.3) kJ/mol for grain boundary diffusion due to the existence of {gamma} precipitates. TEM investigations of {gamma}` and {gamma} precipitates confirmed the above-mentioned effect of Zr addition. (orig.)

U-8 wt %Mo and 7 wt %Mo alloys powder obtained by an hydride-de hydride process

International Nuclear Information System (INIS)

Balart, Silvia N.; Bruzzoni, Pablo; Granovsky, Marta S.; Gribaudo, Luis M. J.; Hermida, Jorge D.; Ovejero, Jose; Rubiolo, Gerardo H.; Vicente, Eduardo E.

2000-01-01

Uranium-molybdenum alloys are been tested as a component in high-density LEU dispersion fuels with very good performances. These alloys need to be transformed to powder due to the manufacturing requirements of the fuels. One method to convert ductile alloys into powder is the hydride-de hydride process, which takes advantage of the ability of the U-α phase to transform to UH 3 : a brittle and relatively low-density compound. U-Mo alloys around 7 and 8 wt % Mo were melted and heat treated at different temperature ranges in order to partially convert γ -phase to α -phase. Subsequent hydriding transforms this α -phase to UH 3 . The volume change associated to the hydride formation embrittled the material which ends up in a powdered alloy. Results of the optical metallography, scanning electron microscopy, X-ray diffraction during different steps of the process are shown. (author)

The influence of post-extrusion thermomechanical treatments on the tensile properties of Zr-2.5 wt% Nb alloy

International Nuclear Information System (INIS)

Fleck, R.G.; Shek, G.K.

1983-01-01

The production routes used for Zr-2.5 wt% Nb pressure tubes are described. Tensile results (UTS) from laboratory tests which simulated modified production routes are presented and compared to UTS values of actual pressure tubes. Strengthening of stress relieved Zr-2.5 wt% Nb is discussed in terms of: a) sub-grain formation; b) transformation of the second phase; and c) reorientation of the second phase relative to the matrix. The strength of cold worked Zr-2.5 wt% Nb is not influenced by the prior cold worked grain size. (author)

Analysis on Radioactive Waste Transmutation in Light Water cooled Hyb-WT

International Nuclear Information System (INIS)

Hong, Seonghee; Kim, Myung Hyun

2014-01-01

A feasibility of realization is much higher in FFHR compared with pure fusion. A combination of plasma fusion source for neutrons with a subcritical reactor at the blanket side has much higher capability in transmutation of waste as well as reactor safety compared with fission reactor options. Fusion-Fission Hybrid Reactor (FFHR) uses various coolants depending on the purpose. It is important that coolant being used should be suitable to reactor purpose, because reactor performance and the design constraints may change depending on the coolant. There are basically two major groups of coolants for FFHR. One group of coolant does not contain Li. They are Na, Pb-Bi, H 2 O and D 2 O. The other group contains Li for tritium breeding. They are Li, LiPb, LiSN, FLIBE and FLiNaBe. Currently, the issue in FFHR is its implication for radioactive waste transmutation (FFHR for WT). Because radioactive wastes of spent nuclear fuel (SNF) are transmuted using fusion neutron source. Therefore a suitable coolant should be used for effective waste transmutation. . In FFHR for WT, LiPb coolant is being used mainly because of tritium production in Li and high neutron economic through reaction in Pb. However different coolants use such as Na, Pb-Bi are used in fast reactors and accelerator driven systems (ADS) having same purpose. In this study, radioactive waste transmutation performance of various coolants mentioned above will be compared and analyzed. Through this study, the coolants are judged primarily for their support to waste transmutation disregarding their limitation to reactor design and tritium breeding capability. First, performance of the light water coolant regarding radioactive waste transmutation was analyzed among various coolants mentioned above. In this paper, performance of radioactive waste transmutation can be known depending on different volume fractions (54.53, 60.27, 97.94vol.%) of the light water. Light water dose required fusion power lower than LiPb due to

Fabrication of Fe-6.5wt%Si Ribbons by Melt Spinning Method on Large Scale

Directory of Open Access Journals (Sweden)

Y. F. Liang

2015-01-01

Full Text Available Melt spinning method has been widely applied for fabrication of Fe-based amorphous/nanocrystalline ribbons in industry. Compared with Fe-based amorphous/nanocrystalline alloys, Fe-6.5wt%Si high silicon steel is of low cost and has comparable excellent soft magnetic properties. Due to higher melting point and absence of supercooled liquid region, fabrication of Fe-6.5wt%Si ribbons is very hard and is only on lab scale. In this paper, we report that large scale fabrication of Fe-6.5wt%Si ribbons was successful and microstructures, ordered structures, and mechanical and soft magnetic properties of the ribbons were investigated. Due to rapid solidification rate, the ribbons were of ultrafine grains, and low degree of order and exhibited some extent of bending and tensile ductility. After heat treatment, excellent soft magnetic properties were obtained. Due to near-zero magnetostriction, the ribbons are promising to be used in electric devices with high frequencies where low noises are required.

Combined effects of ultrasonic vibration and manganese on Fe-containing inter-metallic compounds and mechanical properties of Al-17Si alloy with 3wt.%Fe

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Lin Chong

2013-05-01

Full Text Available The research studied the combined effects of ultrasonic vibration (USV and manganese on the Fe-containing inter-metallic compounds and mechanical properties of Al-17Si-3Fe-2Cu-1Ni (wt.% alloys. The results showed that, without USV, the alloys with 0.4wt.% Mn or 0.8wt.% Mn both contain a large amount of coarse plate-like δ-Al4(Fe,MnSi2 phase and long needle-like β-Al5(Fe,MnSi phase. When the Mn content changes from 0.4wt.% to 0.8wt.% in the alloys, the amount and the length of needle-like β-Al5(Fe,MnSi phase decrease and the plate-like δ-Al4(Fe,MnSi2 phase becomes much coarser. After USV treatment, the Fe-containing compounds in the alloys are refined and exist mainly as δ-Al4(Fe,MnSi2 particles with an average grain size of about 20 μm, and only a small amount of β-Al5(Fe,MnSi phase remains. With USV treatment, the ultimate tensile strengths (UTS of the alloys containing 0.4wt.%Mn and 0.8wt.%Mn at room temperature are 253 MPa and 262 MPa, respectively, and the ultimate tensile strengths at 350 °C are 129 MPa and 135 MPa, respectively. It is considered that the modified morphology and uniform distribution of the Fe-containing inter-metallic compounds, which are caused by the USV process, are the main reasons for the increase in the tensile strength of these two alloys.

High temperature tensile properties and their application to toughness enhancement in ultra-fine grained W-(0-1.5)wt% TiC

Energy Technology Data Exchange (ETDEWEB)

Kurishita, H. [International Research Center for Nuclear Materials Science, Institute for Materials Research (IMR), Tohoku University, Oarai, Ibaraki 311-1313 (Japan)], E-mail: kurishi@imr.tohoku.ac.jp; Matsuo, S.; Arakawa, H.; Narui, M.; Yamazaki, M. [International Research Center for Nuclear Materials Science, Institute for Materials Research (IMR), Tohoku University, Oarai, Ibaraki 311-1313 (Japan); Sakamoto, T.; Kobayashi, S.; Nakai, K. [Department of Materials Science and Biotechnology, Ehime University, Matsuyama, Ehime 790-8577 (Japan); Takida, T.; Takebe, K. [A.L.M.T. Corp., 2 Iwase-koshi-machi, Toyama, Toyama 931-8543 (Japan); Kawai, M. [Institute of Material Structure Science, KEK, Tsukuba, Ibaraki 305-0801 (Japan); Yoshida, N. [Institute for Applied Mechanics, Kyushu University, Kasuga, Fukuoka 816-8580 (Japan)

2009-04-30

Ultra-fine grained (UFG) W-TiC consolidates are very promising for use as divertors in fusion reactors, however, the assurance of room-temperature ductility of UFG W-TiC remains unsettled. The assurance requires a sufficient degree of plastic working for the consolidates and thus overcoming of poor plastic workability in UFG W-TiC by applying superplasticity. Therefore, the magnitudes of elongation to fracture and flow stress which are important measures for plastic working were examined for UFG W-(0-1.5)%TiC (in wt%) at 1673-1973 K where superplasticity occurs without appreciable grain growth. It is shown that the elongation and flow stress are strongly dependent on TiC addition and atmosphere (Ar, H{sub 2}) during mechanical alloying (MA). As the TiC addition increases, the elongation significantly increases without appreciable increase in the flow stress level. W-TiC fabricated with MA in H{sub 2} exhibits larger elongation and larger strain rate sensitivity of flow stress than W-TiC with MA in Ar. These results were applied to perform plastic working and the room-temperature bend test results for plastic worked W-1.0%TiC are shown.

Synthesis by mechanical alloying and characterization of 95.5Sn/4.0Ag/0.5Cu, (wt%) nanopowder

International Nuclear Information System (INIS)

Barreto, Karen Lyn Lima; Manzato, Lizandro; Rivera, Jose Anglada; Oliveira, Marceli Falcao de

2010-01-01

This work aims at sintering and characterizing the 95.5Sn/4.0Ag/0.5Cu (wt%) nanopowder, produced by high energy milling. The nano-sized particles reduce the melting point of this solder, which is usually higher for such alloys, for example, when compared with the usual 63Sn/37Pb (wt%) solder. The alloy was processed in a Spex mill with the following parameters: (I) different times of milling, 12, 24 and 48 hours. (II) the ratio of ball/mass powder of 40:1 and (II) hydrogen milling atmosphere. The microstructural evolution during milling was studied by X-ray diffraction and differential calorimetry. Combining these three variables, after grinding, a reduction of the particle size and the melting point of the solder were observed. This material is promising for applications in microelectronics packaging as a lead free solder. (author)

Effect of Reinforcement Content and Technological Parameters on the Properties of Cu-4 wt.% Ni-TiC Composites

Science.gov (United States)

Jha, Pushkar; Gautam, R. K.; Tyagi, Rajnesh

2017-10-01

The present study deals with the synthesis and investigation of microstructure, density, and hardness behavior of Cu-4 wt.% Ni-TiC metal matrix composites, produced by high-energy ball milling, followed by compaction and sintering. Matrix of Cu-4 wt.% Ni was used, and different weight percentages (0, 2, 4, 6, and 8) of TiC particles were added. The uniform distribution of TiC particles in the matrix alloy was confirmed by characterizing these composite powders by using scanning electron microscope, energy-dispersive spectroscopy, and x-ray diffraction. Both the density and the hardness of the composite containing 4 wt.% TiC were found to be the highest. The density was found to decrease with increasing TiC content beyond 4 wt.%, and it has been attributed to the agglomeration of TiC particles leading to the formation of pores when added in relatively larger amounts. The compressibility behaviors of the milled powders were studied by using Panelli and Ambrosio Filho equation.

Active Tension Control for WT Wheelchair Robot by Using a Novel Control Law for Holonomic or Nonholonomic Systems

Directory of Open Access Journals (Sweden)

Jian Wang

2013-01-01

Full Text Available Interactional characteristics between WT wheelchair robot and stair environment are analyzed, and possible patterns of WT wheelchair robot during the stair-climbing process are summarized, with the criteria of the wheelchair robot for determining the pattern proposed. Aiming at WT wheelchair robot's complicated mechanism with holonomic constraints and combined with the computed torque method, a novel control law that is called active tension control is presented for holonomic or nonholonomic robotic systems, by which the wheelchair robot with a holonomic or nonholonomic mechanism can track the reference input of the constraint forces of holonomic or nonholonomic constraints as well as tracking the reference input of the generalized coordinate of each joint. A stateflow module of Matlab is used to simulate the entire stair-climbing process for WT wheelchair robot. A comparison of output curve with the reference input curve of each joint is made, with the effectiveness of the presented control law verified.

Lithium ionic mobility study in xLi{sub 2}CO{sub 3}-yLiI (x = 95-70, y = 5-30 wt.%) solid electrolyte by impedance spectroscopy technique

Energy Technology Data Exchange (ETDEWEB)

Omar, Mohd Khari; Ahmad, Azizah Hanom [Faculty of Applied Sciences, Universiti Teknologi MARA, 40450 Shah Alam, Selangor D.E. (Malaysia); Institute of Science, Universiti Teknologi MARA, 40450 Shah Alam, Selangor D.E. (Malaysia)

2015-08-28

A detailed systematic study on the effects of different amount (wt.%) of LiI addition on the electrical conductivity and dielectric behavior of the xLi{sub 2}CO{sub 3}-xLiI (x = 95-70, y = 5-30 wt.%) electrolyte system was carried out. The samples with different compositions were prepared and ground by mechanical milling method. The electrical and dielectric properties of the samples over a range of frequency (50Hz – 1MHz) were investigated by deploying electrical impedance spectroscopy (EIS) technique in a series of temperature set (298–373K). Normally, Li{sub 2}CO{sub 3} itself shows a very low electrical conductivity (10{sup −5} Scm{sup −1}). However, the electrical conductivity of the system was found to be increased (10{sup −3} Scm{sup −1}) as the lithium salt (LiI) were introduced to the system. The dielectric analysis displayed that the activation energy was inversely proportional to the increment of LiI (wt.%). As the electrical conductivity reached their maximum value (4.63 × 10{sup −3} Scm{sup −1}) at the 20 wt.% of LiI, the activation energy was dropped to the minimum (0.1 eV). The electrical conductivity increases with the temperature (298 – 373K) indicate that the system obeys Arrhenius law.

Influence wt.% of SiC and borax on the mechanical properties of AlSi-Mg-TiB-SiC composite by the method of semi solid stir casting

Science.gov (United States)

Bhiftime, E. I.; Guterres, Natalino F. D. S.; Haryono, M. B.; Sulardjaka, Nugroho, Sri

2017-04-01

SiC particle reinforced metal matrix composites (MMCs) with solid semi stir casting method is becoming popular in recent application (automotive, aerospace). Stirring the semi solid condition is proven to enhance the bond between matrix and reinforcement. The purpose of this study is to investigate the effect of the SiC wt.% and the addition of borax on mechanical properties of composite AlSi-Mg-TiB-SiC and AlSi-Mg-TiB-SiC/Borax. Specimens was tested focusing on the density, porosity, tensile test, impact test microstructure and SEM. AlSi is used as a matrix reinforced by SiC with percentage variations (10, 15, 20 wt.%). Giving wt.% Borax which is the ratio of 1: 4 between wt.% SiC. The addition of 1.5% of TiB gives grain refinement. The use of semi-solid stir casting method is able to increase the absorption of SiC particles into a matrix AlSi evenly. The improved composite presented here can be used as a guideline to make a new composite.

Helicase-like transcription factor (Hltf regulates G2/M transition, Wt1/Gata4/Hif-1a cardiac transcription networks, and collagen biogenesis.

Directory of Open Access Journals (Sweden)

Rebecca A Helmer

Full Text Available HLTF/Hltf regulates transcription, remodels chromatin, and coordinates DNA damage repair. Hltf is expressed in mouse brain and heart during embryonic and postnatal development. Silencing Hltf is semilethal. Seventy-four percent of congenic C57BL/6J Hltf knockout mice died, 75% within 12-24 hours of birth. Previous studies in neonatal (6-8 hour postpartum brain revealed silencing Hltf disrupted cell cycle progression, and attenuated DNA damage repair. An RNA-Seq snapshot of neonatal heart transcriptome showed 1,536 of 20,000 total transcripts were altered (p < 0.05 - 10 up- and 1,526 downregulated. Pathway enrichment analysis with MetaCore™ showed Hltf's regulation of the G2/M transition (p=9.726E(-15 of the cell cycle in heart is nearly identical to its role in brain. In addition, Brca1 and 12 members of the Brca1 associated genome surveillance complex are also downregulated. Activation of caspase 3 coincides with transcriptional repression of Bcl-2. Hltf loss caused downregulation of Wt1/Gata4/Hif-1a signaling cascades as well as Myh7b/miR499 transcription. Hltf-specific binding to promoters and/or regulatory regions of these genes was authenticated by ChIP-PCR. Hif-1a targets for prolyl (P4ha1, P4ha2 and lysyl (Plod2 collagen hydroxylation, PPIase enzymes (Ppid, Ppif, Ppil3 for collagen trimerization, and lysyl oxidase (Loxl2 for collagen-elastin crosslinking were downregulated. However, transcription of genes for collagens, fibronectin, Mmps and their inhibitors (Timps was unaffected. The collective downregulation of genes whose protein products control collagen biogenesis caused disorganization of the interstitial and perivascular myocardial collagen fibrillar network as viewed with picrosirius red-staining, and authenticated with spectral imaging. Wavy collagen bundles in control hearts contrasted with collagen fibers that were thin, short and disorganized in Hltf null hearts. Collagen bundles in Hltf null hearts were tangled and

Etching characteristics of Si{110} in 20 wt% KOH with addition of hydroxylamine for the fabrication of bulk micromachined MEMS

Science.gov (United States)

Rao, A. V. Narasimha; Swarnalatha, V.; Pal, P.

2017-12-01

Anisotropic wet etching is a most widely employed for the fabrication of MEMS/NEMS structures using silicon bulk micromachining. The use of Si{110} in MEMS is inevitable when a microstructure with vertical sidewall is to be fabricated using wet anisotropic etching. In most commonly employed etchants (i.e. TMAH and KOH), potassium hydroxide (KOH) exhibits higher etch rate and provides improved anisotropy between Si{111} and Si{110} planes. In the manufacturing company, high etch rate is demanded to increase the productivity that eventually reduces the cost of end product. In order to modify the etching characteristics of KOH for the micromachining of Si{110}, we have investigated the effect of hydroxylamine (NH2OH) in 20 wt% KOH solution. The concentration of NH2OH is varied from 0 to 20% and the etching is carried out at 75 °C. The etching characteristics which are studied in this work includes the etch rates of Si{110} and silicon dioxide, etched surface morphology, and undercutting at convex corners. The etch rate of Si{110} in 20 wt% KOH + 15% NH2OH solution is measured to be four times more than that of pure 20 wt% KOH. Moreover, the addition of NH2OH increases the undercutting at convex corners and enhances the etch selectivity between Si and SiO2.

Stress corrosion cracking of 350 maraging steel in 3.5 Wt. % NaCl solution

International Nuclear Information System (INIS)

Hussain, I.; Hussain, T.; Tauqir, A.; Hashmi, F.H.; Khan, A.Q.

1993-01-01

Stress corrosion behavior of 350 maraging steel in 3.5 wt.% NaCl solution was investigated. The results suggest that the steel is susceptible to stress corrosion cracking as the time to failure was always considerably shorter, as compared to those in air at the same stress level. The fracture mode was nearly intergranular and occasionally transgranular. There was no definite trend for the different modes of failure. The strain rate effect was also considered and the results show that the stress corrosion cracks were absent at strain rate high than 1.97 x 10/sup -4/S/sup -1/ and lower than 1.29 x 10/sup -7/S/sup -1/. The critical strain rate range was found to be between 6.4 x 10/sup -7/ to 3.24 x10/sup -5/S /sup -1/. (author)

Effects of torsional oscillation on tensile behavior of Sn–3.5 wt% Ag alloy with and without adding ZnO nanoparticles

Energy Technology Data Exchange (ETDEWEB)

Sobhy, M., E-mail: miladsobhym@yahoo.com

2014-07-29

Stress–strain characteristics of both Sn–3.5 wt% Ag and Sn–3.5 wt% Ag–0.3 wt% ZnO alloys were investigated using tensile testing machine. Different superimposed torsional oscillation frequencies ranging from 0 to 1.3 Hz at different deformation temperatures ranging from 303 to 363 K were performed. X-ray diffraction (XRD), transition electron microscopy (TEM) and optical microscopy were used to investigate the microstructures of both alloys. The mechanical parameters such as Young's modulus Y, yield stress σ{sub y}, fracture stress σ{sub f}, work hardening coefficient χ{sub p} and fracture strain ε{sub f} were calculated. The fracture stress of both alloys decreases with increasing the superimposed frequency of torsional oscillations as well as deformation temperatures. The fracture strain behaves in a different manner i.e. it increases with increasing the deformation temperature in the alloy containing ZnO nanoparticles while decreases in the alloy free from ZnO nanoparticles. With respect to the effect of the frequency of the superimposed torsional deformation, the fracture strain increases in both alloys.

Secondary dendrite arm spacing and solute redistribution effects on the corrosion resistance of Al-10 wt% Sn and Al-20 wt% Zn alloys

International Nuclear Information System (INIS)

Osorio, Wislei R.; Spinelli, Jose E.; Cheung, Noe; Garcia, Amauri

2006-01-01

In general, aluminum alloys provide the most significant part of all shaped casting manufactured. An optimum range of properties can be obtained as a function of different cooling rate processes, such as sand, plaster, investment, permanent molds and die castings. It is well known that the dendritic network affects not only the mechanical properties but also the corrosion resistance. However, the literature is scarce on reports concerning the influences of dendrite arm spacing on corrosion resistance and mechanical behavior. The aim of this study is to investigate the influence of as-cast microstructure features, i.e., dendrite arm spacing and solute redistribution on the corrosion resistance of samples of aluminum alloys. In order to investigate the electrochemical behavior of solute and solvent of different aluminum systems, samples with the same order of magnitude of dendritic spacings were analyzed to permit comparison between Al-10 wt% Sn and Al-20 wt% Zn alloys. A casting water-cooled assembly promoting upward directional solidification was used in order to obtain controlled casting samples of these alloys. In order to characterize the dendritic structure, longitudinal sections from the directionally solidified specimens were analyzed by using optical and electronic microscopy techniques. The corrosion resistance was analyzed by both the electrochemical impedance spectroscopy technique and Tafel extrapolation method conducted in a 3% NaCl solution at room temperature. Although both systems present an Al-rich dendritic matrix, different responses to corrosive action as a function of dendritic spacing have been detected

Secondary dendrite arm spacing and solute redistribution effects on the corrosion resistance of Al-10 wt% Sn and Al-20 wt% Zn alloys

Energy Technology Data Exchange (ETDEWEB)

Osorio, Wislei R. [Department of Materials Engineering, State University of Campinas-UNICAMP, P.O. Box 6122, 13083-970 Campinas, SP (Brazil); Spinelli, Jose E. [Department of Materials Engineering, State University of Campinas-UNICAMP, P.O. Box 6122, 13083-970 Campinas, SP (Brazil); Cheung, Noe [Department of Materials Engineering, State University of Campinas-UNICAMP, P.O. Box 6122, 13083-970 Campinas, SP (Brazil); Garcia, Amauri [Department of Materials Engineering, State University of Campinas-UNICAMP, P.O. Box 6122, 13083-970 Campinas, SP (Brazil)]. E-mail: amaurig@fem.unicamp.br

2006-03-25

In general, aluminum alloys provide the most significant part of all shaped casting manufactured. An optimum range of properties can be obtained as a function of different cooling rate processes, such as sand, plaster, investment, permanent molds and die castings. It is well known that the dendritic network affects not only the mechanical properties but also the corrosion resistance. However, the literature is scarce on reports concerning the influences of dendrite arm spacing on corrosion resistance and mechanical behavior. The aim of this study is to investigate the influence of as-cast microstructure features, i.e., dendrite arm spacing and solute redistribution on the corrosion resistance of samples of aluminum alloys. In order to investigate the electrochemical behavior of solute and solvent of different aluminum systems, samples with the same order of magnitude of dendritic spacings were analyzed to permit comparison between Al-10 wt% Sn and Al-20 wt% Zn alloys. A casting water-cooled assembly promoting upward directional solidification was used in order to obtain controlled casting samples of these alloys. In order to characterize the dendritic structure, longitudinal sections from the directionally solidified specimens were analyzed by using optical and electronic microscopy techniques. The corrosion resistance was analyzed by both the electrochemical impedance spectroscopy technique and Tafel extrapolation method conducted in a 3% NaCl solution at room temperature. Although both systems present an Al-rich dendritic matrix, different responses to corrosive action as a function of dendritic spacing have been detected.

Classification of different kinds of pesticide residues on lettuce based on fluorescence spectra and WT-BCC-SVM algorithm

Science.gov (United States)

Zhou, Xin; Jun, Sun; Zhang, Bing; Jun, Wu

2017-07-01

In order to improve the reliability of the spectrum feature extracted by wavelet transform, a method combining wavelet transform (WT) with bacterial colony chemotaxis algorithm and support vector machine (BCC-SVM) algorithm (WT-BCC-SVM) was proposed in this paper. Besides, we aimed to identify different kinds of pesticide residues on lettuce leaves in a novel and rapid non-destructive way by using fluorescence spectra technology. The fluorescence spectral data of 150 lettuce leaf samples of five different kinds of pesticide residues on the surface of lettuce were obtained using Cary Eclipse fluorescence spectrometer. Standard normalized variable detrending (SNV detrending), Savitzky-Golay coupled with Standard normalized variable detrending (SG-SNV detrending) were used to preprocess the raw spectra, respectively. Bacterial colony chemotaxis combined with support vector machine (BCC-SVM) and support vector machine (SVM) classification models were established based on full spectra (FS) and wavelet transform characteristics (WTC), respectively. Moreover, WTC were selected by WT. The results showed that the accuracy of training set, calibration set and the prediction set of the best optimal classification model (SG-SNV detrending-WT-BCC-SVM) were 100%, 98% and 93.33%, respectively. In addition, the results indicated that it was feasible to use WT-BCC-SVM to establish diagnostic model of different kinds of pesticide residues on lettuce leaves.

irradiation growth in annealed Zr2.5wt%Nb at 3530K

International Nuclear Information System (INIS)

Rogerson, A.; Murgatroyd, R.A.

1978-10-01

Zr 2.5wt%Nb growth specimens have been irradiated at 353 0 K to a fast neutron dose of approximately 4.0 x 10 25 n/m 2 . Specimens were taken from the longitudinal and transverse directions of a nominally annealed, seam-welded tube and irradiated in both the stress relieved and fully annealed conditions. Growth in these specimens is characterised by large positive and negative strains in the longitudinal and transverse directions respectively, with dimensional changes in weld material exhibiting intermediate growth behaviour. The results are compared with growth data on both annealed and cold worked Zircaloy-2 at 353 0 K and discussed in terms of the effect of texture, grain size, and cold work on irradiation growth. It is concluded that the continuation of growth to high doses in annealed Zr-2.5wt%Nb at 353 0 K results from interstitial induced dislocation climb with vacancies diffusing to grain boundaries. (author)

Top Polarisation in H-t and Wt production

International Nuclear Information System (INIS)

Godbole, R.M.; Hartgring, L.; Niessen, I.; White, C.D.

2012-01-01

We consider laboratory frame observables (like the azimuthal angle between the top quark and its decay lepton or the polar angle between the top quark and leptonic directions) obtained from leptonic decay products of top quarks produced in association with a charged Higgs or W boson. These are robust against QCD corrections to top quark decay, and can be used to pin down the parameter space of a charged Higgs boson, or reduce backgrounds in H - t and (Standard Model) Wt production. Polarisation information can efficiently be used to distinguish single top quark production processes from their backgrounds, as well as to pin down the parameters of a charged Higgs boson model

Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome

Directory of Open Access Journals (Sweden)

Rakonjac Marijana

2016-01-01

Full Text Available The 22q11.2 Deletion Syndrome (22q11.2DS, which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72 - 94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH and/or multiplex ligation-dependent probe amplification (MLPA. In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both families showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion.

Pengaruh unsur Tembaga (Cu terhadap fluiditas paduan Al-Si 11.8 wt% (ADC 12 dengan metode Vacuum Suction Test

Directory of Open Access Journals (Sweden)

Bambang Suharno

2012-11-01

Full Text Available Al-Si 11.8 wt% alloy which classified to eutectic Al-Si composition usually used to produce a flat casting product with high pressure die casting process. Alloying element become an important things to determine behavior and characteristic of aluminum. Copper added into aluminum to improve strength and hardness, but there has no many studies on the effect of copper on fluidity. This fluidity study is using vacuum suction test method and the microstructure is observed with SEM/EDS. Spectrometer test has been used to find out chemical composition of sample. The result of this study shows that with copper addition from 2.25 wt% to 3.11 wt%, the fluidity value has increased 24.11% on 680oC pouring temperature. On 3.11 wt% copper composition, fluidity value has increased 14.38% from 640oC pouring temperature to 700oC pouring temperature.

Electrochemical studies and analysis of 1–10 wt% UCl{sub 3} concentrations in molten LiCl–KCl eutectic

Energy Technology Data Exchange (ETDEWEB)

Hoover, Robert O., E-mail: roberthoover@vandals.uidaho.edu [Chemical and Materials Engineering Department and Nuclear Engineering Program, University of Idaho, Idaho Falls, Center for Advanced Energy Studies, 995 University Blvd, Idaho Falls, ID 83401 (United States); Shaltry, Michael R., E-mail: mshaltry@uidaho.edu [Chemical and Materials Engineering Department and Nuclear Engineering Program, University of Idaho, Idaho Falls, Center for Advanced Energy Studies, 995 University Blvd, Idaho Falls, ID 83401 (United States); Martin, Sean, E-mail: Sean.martin@xenuclear.com [Department of Engineering Physics, University of Wisconsin-Madison, 1415 Engineering Drive, Madison, WI 53706 (United States); Sridharan, Kumar, E-mail: kumar@engr.wisc.edu [Department of Engineering Physics, University of Wisconsin-Madison, 1415 Engineering Drive, Madison, WI 53706 (United States); Phongikaroon, Supathorn, E-mail: supathor@uidaho.edu [Chemical and Materials Engineering Department and Nuclear Engineering Program, University of Idaho, Idaho Falls, Center for Advanced Energy Studies, 995 University Blvd, Idaho Falls, ID 83401 (United States)

2014-09-15

Three electrochemical methods – cyclic voltammetry (CV), chronopotentiometry (CP), and anodic stripping voltammetry (ASV) – were applied to solutions of up to 10 wt% UCl{sub 3} in the molten LiCl–KCl eutectic salt at 500 °C to determine electrochemical properties and behaviors and to help provide a scientific basis for the development of an in situ electrochemical probe for determining the concentration of uranium in a used nuclear fuel electrorefiner. Diffusion coefficients of UCl{sub 4} and UCl{sub 3} were calculated to be (6.72 ± 0.360) × 10{sup −6} cm{sup 2}/s and (1.04 ± 0.17) × 10{sup −5} cm{sup 2}/s, respectively. Apparent standard reduction potentials were determined to be (−0.381 ± 0.013) V and (−1.502 ± 0.076) V vs. 5 mol% Ag/AgCl or (−1.448 ± 0.013) V and (−2.568 ± 0.076) V vs. Cl{sub 2}/Cl{sup −} for the U(IV)/U(III) and U(III)/U redox couples, respectively. In comparing this data with supercooled thermodynamic data to determine activity coefficients, the thermodynamic database used was important with resulting activity coefficients ranging from 2.34 × 10{sup −3} to 1.08 × 10{sup −2} for UCl{sub 4} and 4.94 × 10{sup −5} to 4.50 × 10{sup −4} for UCl{sub 3}. Of anodic stripping voltammetry and cyclic voltammetry anodic or cathodic peaks, the CV cathodic peak height divided by square root of scan rate was shown to be the most reliable method of determining UCl{sub 3} concentration in the molten salt.

An estimation of the prevalence of genomic disorders using chromosomal microarray data.

Science.gov (United States)

Gillentine, Madelyn A; Lupo, Philip J; Stankiewicz, Pawel; Schaaf, Christian P

2018-04-24

Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11.23), Smith-Magenis syndrome (17p11.2), velocardiofacial syndrome (22q11.21), Prader-Willi/Angelman syndromes (15q11.2q12), 17q12 deletion syndrome, and Charcot-Marie-Tooth neuropathy type 1/hereditary neuropathy with liability to pressure palsy (PMP22, 17q11.2). We have generated a method to estimate prevalence of highly penetrant genomic disorders by (1) leveraging epidemiological data for genomic disorders with previously reported prevalence estimates, (2) obtaining chromosomal microarray data on genomic disorders from a large medical genetics clinic; and (3) utilizing these in a linear regression model to determine the prevalence of this syndromic copy number change among the general population. Using our algorithm, the prevalence for five clinically relevant recurrent genomic disorders: 1q21.1 microdeletion (1/6882 live births) and microduplication syndromes (1/6309), 15q13.3 microdeletion syndrome (1/5525), and 16p11.2 microdeletion (1/3021) and microduplication syndromes (1/4216), were determined. These findings will inform epidemiological strategies for evaluating those conditions, and our method may be useful to evaluate the prevalence of other highly penetrant genomic disorders.

Contraction Twinning Dominated Tensile Deformation and Subsequent Fracture in Extruded Mg-1Mn (Wt Pct) at Ambient Temperature

Science.gov (United States)

Chakkedath, A.; Maiti, T.; Bohlen, J.; Yi, S.; Letzig, D.; Eisenlohr, P.; Boehlert, C. J.

2018-03-01

Due to their excellent strength-to-weight ratio, Mg alloys are attractive for applications where weight savings are critical. However, the limited cold formability of wrought Mg alloys severely restricts their widespread usage. In order to study the role that deformation twinning might play in limiting the elongation-to-failure ({ɛ} f ), in-situ tensile tests along the extrusion axis of Mg-1Mn (wt pct) were performed at 323 K, 423 K, and 523 K. The alloy exhibited a strong basal texture such that most of the grains experienced compression along their -axis during deformation. At 323 K, fracture occurred at about 10 pct strain. Although basal, prismatic, and pyramidal slip activity was observed along with extension twinning, contraction twinning significantly influenced the deformation, and such twins evolved into {10{\\bar{1}} 1}-{10{\\bar{1}} 2} double twins. Crystal plasticity simulation showed localized shear deformation within the contraction twins and double twins due to the enhanced activity of basal slip in the reoriented twin volume. Due to this, the twin-matrix interface was identified to be a potential crack initiation site. Thus, contraction twins were considered to have led to the failure of the material at a relatively low strain, suggesting that this deformation mode is detrimental to the cold formability of Mg and its alloys. With increasing temperature, there was a significant decrease in the activity of contraction twinning as well as extension twinning, along with a decrease in the tensile strength and an increase in the {ɛ} f value. A combination of basal, prismatic, and pyramidal slips accounted for a large percentage of the observed deformation activity at 423 K and 523 K. The lack of contraction twinning was explained by the expected decrease in the critical resolved shear stress values for pyramidal slip, and the improved {ɛ} f values at elevated temperatures were attributed to the vanishing activity of contraction twinning.

Contraction Twinning Dominated Tensile Deformation and Subsequent Fracture in Extruded Mg-1Mn (Wt Pct) at Ambient Temperature

Science.gov (United States)

Chakkedath, A.; Maiti, T.; Bohlen, J.; Yi, S.; Letzig, D.; Eisenlohr, P.; Boehlert, C. J.

2018-06-01

Due to their excellent strength-to-weight ratio, Mg alloys are attractive for applications where weight savings are critical. However, the limited cold formability of wrought Mg alloys severely restricts their widespread usage. In order to study the role that deformation twinning might play in limiting the elongation-to-failure ({ɛ} _{ {f}}), in-situ tensile tests along the extrusion axis of Mg-1Mn (wt pct) were performed at 323 K, 423 K, and 523 K. The alloy exhibited a strong basal texture such that most of the grains experienced compression along their -axis during deformation. At 323 K, fracture occurred at about 10 pct strain. Although basal, prismatic, and pyramidal slip activity was observed along with extension twinning, contraction twinning significantly influenced the deformation, and such twins evolved into {10{\\bar{1}}1}-{10{\\bar{1}}2} double twins. Crystal plasticity simulation showed localized shear deformation within the contraction twins and double twins due to the enhanced activity of basal slip in the reoriented twin volume. Due to this, the twin-matrix interface was identified to be a potential crack initiation site. Thus, contraction twins were considered to have led to the failure of the material at a relatively low strain, suggesting that this deformation mode is detrimental to the cold formability of Mg and its alloys. With increasing temperature, there was a significant decrease in the activity of contraction twinning as well as extension twinning, along with a decrease in the tensile strength and an increase in the {ɛ} _{ {f}} value. A combination of basal, prismatic, and pyramidal slips accounted for a large percentage of the observed deformation activity at 423 K and 523 K. The lack of contraction twinning was explained by the expected decrease in the critical resolved shear stress values for pyramidal slip, and the improved {ɛ} _{ {f}} values at elevated temperatures were attributed to the vanishing activity of contraction twinning.

Structure and phase stability of a Pu-0.32 wt% Ga alloy

Energy Technology Data Exchange (ETDEWEB)

Wheeler, D.W., E-mail: David.Wheeler@awe.co.uk; Ennaceur, S.M.; Matthews, M.B.; Roussel, P.; Bayer, P.D.

2016-08-01

In plutonium-gallium (Pu-Ga) alloys that have a Ga content of 0.3–0.4 wt%, their readiness to transform to α′ renders them of particular interest in efforts to understand the tenuous nature of δ phase stability. The present study is a comprehensive examination of the structure and phase stability of a cast Pu-0.32 wt% Ga alloy, the Ga content being close to the minimum amount needed to retain the δ phase to ambient temperature. The alloy was characterised in both the as-cast condition as well as following a homogenising heat treatment. The 250-h heat treatment at 450 °C was shown to achieve an apparently stable δ-Pu phase. However, the stability of the δ-Pu phase was shown to be marginal: partial transformation to α′-Pu was observed when the alloy was subjected to hydrostatic compression. Similar transformation was also apparent during metallographic preparation as well as during hardness indentation. The results provide new understanding of the nature of δ phase stability. - Highlights: • New insights into the delta phase stability of a Pu-0.32 wt% Ga alloy. • Density and DSC of as-cast alloy both show α-Pu contents of approximately 30%. • The heat-treated alloy has a largely δ-Pu structure at ambient temperature. • Heat-treated alloy susceptible to δ → α transformation during hardness indentation.

Microstructure and mechanical properties of in situ TiC and Nd2O3 particles reinforced Ti-4.5 wt.%Si alloy composites

International Nuclear Information System (INIS)

Zhang, Xinjiang; Li, Yibin; Song, Guangping; Sun, Yue; Peng, Qingyu; Li, Yuxin; He, Xiaodong

2011-01-01

Highlights: → (TiC + Nd 2 O 3 )/Ti-4.5 wt.%Si composites were in situ synthesized. → The phase components and microstructures of the composites were investigated. → In situ reinforcements improve the mechanical properties of the matrix alloy. -- Abstract: (TiC + Nd 2 O 3 )/Ti-4.5 wt.%Si composites were in situ synthesized by a non-consumable arc-melting technology. The phases in the composites were identified by X-ray diffraction. Microstructures of the composites were observed by optical microscope and scanning electron microscope. The composite contains four phases: TiC, Nd 2 O 3 , Ti 5 Si 3 and Ti. The TiC and Nd 2 O 3 particles with dendritic and near-equiaxed shapes are well distributed in Ti-4.5 wt.%Si alloy matrix, and the fine Nd 2 O 3 particles exist in the network Ti + Ti 5 Si 3 eutectic cells and Ti matrix of the composites. The hardness and compressive strength of the composites are markedly higher than that of Ti-4.5 wt.%Si alloy. When the TiC content is fixed as 10 wt.% in the composites, the hardness is enhanced as the Nd 2 O 3 content increases from 8 wt.% to 13 wt.%, but the compressive strength peaks at the Nd 2 O 3 content of 8 wt.%.

Long-term oxidation of Zr-2.5 wt% Nb alloy

International Nuclear Information System (INIS)

Cox, B.

1976-09-01

A long-term study of the oxidation of Zr-2.5 wt% Nb alloys in water, steam, air and fused nitrate/nitrite salt has been carried out as a function of material batch, degree of cold-work, and heat treatment. Examination after oxidation was by weight gain, optical microscopy, replica electron microscopy, scanning electron microscopy, oxide impedance measurements, mercury porosimetry and metallographic sectioning. The results are compared with other published work and some hypothetical oxidation mechanisms are proposed and discussed. (author)

Work hardening characteristics in Al base alloys with 12.6 and 45 wt.% Zn

International Nuclear Information System (INIS)

Abd El-Salam, F.; Mostafa, M.M.; Wahab, L.A.; Mostafa, M.T.; Abd El-Aziz, Sh.M.

2008-01-01

The stress-strain curves were obtained for Al-Zn alloys of 12.6 wt.% Zn (alloy I) and 45 wt.% Zn (alloy II) with elements of purity (99.99). The monotonic shift of these curves towards lower flow stress and higher ductility was interrupted at the transformation temperatures 483 K (alloy I) and both 543, 603 K (alloy II). By increasing deformation temperature, Young's modulus, Y, yield and fracture stresses, σ y and σ f , respectively, fracture time, t f , the coefficient of parabolic work hardening, χ, decreased while fracture strain, ε f , and dislocation slip distance, L, increased. From the obtained X-rays diffraction patterns the lattice strain, ε, crystallite size, η, and dislocation density, ρ, were obtained at different deformation temperatures around transformation

Characterization and assessment of voltage and power constraints of DFIG WT connected to a weak network

DEFF Research Database (Denmark)

Abulanwar, Elsayed; Hu, Weihao; Iov, Florin

2014-01-01

This article thoroughly investigates the challenges and constraints raised by the integration of a Doubly-fed Induction generator wind turbine, DFIG WT, into an ac network of extensively varying parameters and very weak conditions. The objective is to mitigate the voltage variations at the point...... of common coupling, PCC, and maximize the wind power penetration into weak networks. As a basis of investigation, a simplified system model is utilized and the respective PCC voltage, active and reactive power stability issues are identified. Besides, a steady-state study for DFIG WT connected to a weak...

The coarsening process of Ge precipitates in an Al-4 wt.% Ge alloy

Energy Technology Data Exchange (ETDEWEB)

Deaf, G.H

2004-05-01

In this paper the results of a quantitative transmission electron microscopy (TEM) investigation of the precipitation process of Ge in an Al-4 wt.% Ge alloy are described. Two crystallographic orientation relationships between the irregular germanium precipitate and aluminum matrix were found to be [1 0 0]{sub Ge} || [1 1 0]{sub Al} and [1 1 4]{sub Ge} || [1 0 0]{sub Al}. The irregular germanium precipitates formed on [0 0 1]{sub Al} habit planes. The origin of the irregular shape is due to the existence of a highly anisotropic interfacial energy as well as in an isotropic growth rate along <1 1 0>{sub A1} directions. Particles sizes were determined for variety of isothermal ageing times at 348, 423 and 523 K. The coarsening of the different morphologies of Ge precipitates was found to obey Ostwald ripening kinetics. The TEM results showed that the coarsening of irregular particles was due to the interfacial coalescence between these particles. Nine different morphologies have been distinguished in the form of (i) irregular particles, (ii) spheres, (iii) hexagonal plates, (iv) rods, (v) triangular plates, (vi) laths, (vii) small tetrahedra, (viii) rectangular plates, and (ix) Lamellae shape.

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.

Science.gov (United States)

Abdelhedi, Fatma; El Khattabi, Laila; Essid, Nouha; Viot, Geraldine; Letessier, Dominique; Lebbar, Aziza; Dupont, Jean-Michel

2016-07-01

Chromosomal microarray analysis has become a powerful diagnostic tool in the investigation of patients with intellectual disability leading to the discovery of dosage sensitive genes implicated in the manifestation of various genomic disorders. Interstitial deletions of the short arm of chromosome 10 represent rare genetic abnormalities, especially those encompassing the chromosomal region 10p11-p12. To date, only 10 postnatal cases with microdeletion of this region have been described, and all patients shared a common phenotype, including intellectual disability, abnormal behavior, distinct dysmorphic features, visual impairment, and cardiac malformations. WAC was suggested to be the main candidate gene for intellectual disability associated with 10 p11-p12 deletion syndrome. Here, we describe a new case of de novo 10p11.23-p12.1 microdeletion in a patient with intellectual disability, abnormal behavior, and distinct dysmorphic features. Our observation allows us to redefine the smallest region of overlap among patients reported so far, with a size of 80 Kb and which contains only the WAC gene. These findings strengthen the hypothesis that haploinsufficency of WAC gene might be likely responsible for intellectual disability and behavior disorders. Our data also led us to propose a clinical pathway for patients with this recognizable genetic syndrome depending on the facial dysmorphisms. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13(p13;q33 translocation detect a microdeletion involving the WAGR region

Directory of Open Access Journals (Sweden)

J.C. Llerena Jr.

2000-09-01

Full Text Available Conventional cytogenetic studies on a female infant with sporadic aniridia revealed what appeared to be a balanced de novo t(11;13 (p13;q33 translocation. Fluorescence in situ hybridization (FISH investigations, however, detected the presence of a cryptic 11p13p14 deletion which included the WAGR region and involved approximately 7.5 Mb of DNA, including the PAX6 and WT1 genes. These results account for the patient's aniridia, and place her at high risk for developing Wilms' tumour. The absence of mental retardation in the patient suggests that the position of the distal breakpoint may also help to refine the mental retardation locus in the WAGR contiguous gene syndrome (Wilms', aniridia, genital anomalies and mental retardation.O estudo citogenético convencional em uma menina com aniridia esporádica resultou em uma aparente translocação balanceada t(11;13(p13;q33 de novo. Entretanto, o estudo citogenético pela hibridação in situ fluorescente (FISH detectou a presença de uma deleção críptica 11p13p14, incluindo a região WAGR e envolvendo aproximadamente 7.5 Mb de DNA, deletando os genes PAX6 e WT1. Estes resultados correlacionam-se com o quadro clínico da paciente e a coloca em alto risco de desenvolver tumor de Wilms. A ausência de retardo mental na paciente indica que a posição distal do ponto de quebra poderá refinar o mapeamento do locus retardo mental na síndrome de genes contíguos WAGR (Wilms, aniridia, anomalias genitais e retardo mental.

Fabrication of U-10wt.%Zr Fuel slug for SFR by Injection Casting

International Nuclear Information System (INIS)

Kim, Jong Hwan; Song, Hoon; Kim, Hyung Tae; Ko, Young Mo; Kim, Ki Hwan; Lee, Chan B.

2013-01-01

The fabrication technology of metal fuel has been developed by various methods such as rolling, swaging, wire drawing, and co-extrusion, but each of these methods had process limitations requiring an additional subsequent process, and needing the fabrication equipment is complex, which is not favorable for remote use. A practical process of metallic fuel fabrication for an SFR needs to be cost efficient, suitable for remote operation, and capable of mass production while reducing the amount of radioactive waste. Injection casting was chosen as the most promising technique, in the early 1950s, and this technique has been applied to fuel slug fabrication for the Experimental Breeder Reactor-II (EBR-II) driver and the Fast Flux Test Facility (FFTF) fuel pins. Because of the simplistic nature of the process and equipment, compared to other processes examined, this process has been successfully used in a remote operation environment for fueling of the EBR-II reactor. In this study, vacuum injection casting suitable for remote operation has been developed to fabricate metallic fuel for an SFR. Vacuum injection casting technique was developed to fabricate metallic fuel for an SFR. The appearance of the fabricated U-10wt.%Zr fuel was generally sound and the internal integrity was found to be satisfactory through gamma-ray radiography. Minimum fuel losses after casting relative to the initial charge amount of U-10wt.%Zr fuel slugs met the proposed goal of less than 0.1% fuel losses during fabrication. Modifications of the current facility system and advanced casting techniques are underway to produce higher quality fuel slugs

Fabrication of U-10wt.%Zr Fuel slug for SFR by Injection Casting

Energy Technology Data Exchange (ETDEWEB)

Kim, Jong Hwan; Song, Hoon; Kim, Hyung Tae; Ko, Young Mo; Kim, Ki Hwan; Lee, Chan B. [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

2013-10-15

The fabrication technology of metal fuel has been developed by various methods such as rolling, swaging, wire drawing, and co-extrusion, but each of these methods had process limitations requiring an additional subsequent process, and needing the fabrication equipment is complex, which is not favorable for remote use. A practical process of metallic fuel fabrication for an SFR needs to be cost efficient, suitable for remote operation, and capable of mass production while reducing the amount of radioactive waste. Injection casting was chosen as the most promising technique, in the early 1950s, and this technique has been applied to fuel slug fabrication for the Experimental Breeder Reactor-II (EBR-II) driver and the Fast Flux Test Facility (FFTF) fuel pins. Because of the simplistic nature of the process and equipment, compared to other processes examined, this process has been successfully used in a remote operation environment for fueling of the EBR-II reactor. In this study, vacuum injection casting suitable for remote operation has been developed to fabricate metallic fuel for an SFR. Vacuum injection casting technique was developed to fabricate metallic fuel for an SFR. The appearance of the fabricated U-10wt.%Zr fuel was generally sound and the internal integrity was found to be satisfactory through gamma-ray radiography. Minimum fuel losses after casting relative to the initial charge amount of U-10wt.%Zr fuel slugs met the proposed goal of less than 0.1% fuel losses during fabrication. Modifications of the current facility system and advanced casting techniques are underway to produce higher quality fuel slugs.

Endogenous IL-1 in cognitive function and anxiety: a study in IL-1RI-/- mice.

Directory of Open Access Journals (Sweden)

Carol L Murray

Full Text Available Interleukin-1 (IL-1 is a key pro-inflammatory cytokine, produced predominantly by peripheral immune cells but also by glia and some neuronal populations within the brain. Its signalling is mediated via the binding of IL-1α or IL-1β to the interleukin-1 type one receptor (IL-1RI. IL-1 plays a key role in inflammation-induced sickness behaviour, resulting in depressed locomotor activity, decreased exploration, reduced food and water intake and acute cognitive deficits. Conversely, IL-1 has also been suggested to facilitate hippocampal-dependent learning and memory: IL-1RI(-/- mice have been reported to show deficits on tasks of visuospatial learning and memory. We sought to investigate whether there is a generalised hippocampal deficit in IL-1RI(-/- animals. Therefore, in the current study we compared wildtype (WT mice to IL-1RI(-/- mice using a variety of hippocampal-dependent learning and memory tasks, as well as tests of anxiety and locomotor activity. We found no difference in performance of the IL-1RI(-/- mice compared to WT mice in a T-maze working memory task. In addition, the IL-1RI(-/- mice showed normal learning in various spatial reference memory tasks including the Y-maze and Morris mater maze, although there was a subtle deficit in choice behaviour in a spatial discrimination, beacon watermaze task. IL-1RI(-/- mice also showed normal memory for visuospatial context in the contextual fear conditioning paradigm. In the open field, IL-1RI(-/- mice showed a significant increase in distance travelled and rearing behaviour compared to the WT mice and in the elevated plus-maze spent more time in the open arms than did the WT animals. The data suggest that, contrary to prior studies, IL-1RI(-/- mice are not robustly impaired on hippocampal-dependent memory and learning but do display open field hyperactivity and decreased anxiety compared to WT mice. The results argue for a careful evaluation of the roles of endogenous IL-1 in hippocampal

Altered white matter microstructure is associated with social cognition and psychotic symptoms in 22q11.2 microdeletion syndrome

Directory of Open Access Journals (Sweden)

Maria eJalbrzikowski

2014-11-01

Full Text Available 22q11.2 Microdeletion Syndrome (22q11DS is a highly penetrant genetic mutation associated with a significantly increased risk for psychosis. Aberrant neurodevelopment may lead to inappropriate neural circuit formation and cerebral dysconnectivity in 22q11DS, which may contribute to symptom development. Here we examined: 1 differences between 22q11DS participants and typically developing controls in diffusion tensor imaging (DTI measures within white matter tracts; 2 whether there is an altered age-related trajectory of white matter pathways in 22q11DS; and 3 relationships between DTI measures, social cognition task performance and positive symptoms of psychosis in 22q11DS and typically developing controls. Sixty-four direction diffusion weighted imaging data were acquired on 65 participants (36 22q11DS, 29 controls. We examined differences between 22q11DS vs. controls in measures of fractional anisotropy (FA, axial (AD and radial diffusivity (RD, using both a voxel-based and region of interest approach. Social cognition domains assessed were: Theory of Mind and emotion recognition. Positive symptoms were assessed using the Structured Interview for Prodromal Syndromes. Compared to typically developing controls, 22q11DS participants showed significantly lower AD and RD in multiple white matter tracts, with effects of greatest magnitude for AD in the superior longitudinal fasciculus. Additionally, 22q11DS participants failed to show typical age-associated changes in FA and RD in the left inferior longitudinal fasciculus. Higher AD in the left inferior fronto-occipital fasciculus and left uncinate fasciculus was associated with better social cognition in 22q11DS and controls. In contrast, greater severity of positive symptoms was associated with lower AD in bilateral regions of the inferior fronto-occipital fasciculus in 22q11DS. White matter microstructure in tracts relevant to social cognition is disrupted in 22q11DS, and may contribute to

Characterization of the reaction layer in U-7wt%Mo/Al diffusion couples

Energy Technology Data Exchange (ETDEWEB)

Mirandou, M.I.; Balart, S.N.; Ortiz, M.; Granovsky, M.S. E-mail: granovsk@cnea.gov.ar

2003-11-15

The reaction layer in chemical diffusion couples U-7wt%Mo/Al was investigated using optical and scanning electron microscopy, electron probe microanalysis and X-ray diffraction (XRD) techniques. When the U-7wt%Mo alloy was previously homogenized and the {gamma}(U, Mo) phase was retained, the formation of (U, Mo)Al{sub 3} and (U, Mo)Al{sub 4} was observed at 580 deg. C. Also a very thin band was detected close to the Al side, the structure of the ternary compound Al{sub 20}UMo{sub 2} might be assigned to it. When the decomposition of the {gamma}(U, Mo) took place, a drastic change in the diffusion behavior was observed. In this case, XRD indicated the presence of phases with the structures of (U, Mo)Al{sub 3}, Al{sub 43}U{sub 6}Mo{sub 4}, {gamma}(U, Mo) and {alpha}(U) in the reaction layer.

Absorption of dissolved hydrogen from lithiated water during accelerated corrosion of zirconium-2.5 wt% niobium alloy

International Nuclear Information System (INIS)

Manolescu, A.V.; Mayer, P.; Rasile, E.M.; Mummenhoff, J.W.

1982-01-01

A series of laboratory experiments was carried out to determine the extent of dissolved hydrogen absorption from lithiated water by zirconium-2.5 wt% niobium alloy during corrosion. The material was exposed at 340 0 C to 1 M LiOH aqueous solution containing 0 to approximately 70 cm 3 /L of dissolved hydrogen. Results indicate that dissolved hydrogen has no effect on the corrosion rate or on the amount of hydrogen absorbed by the material

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

Science.gov (United States)

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

2016-12-10

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

Photoresponse in La0.9Hf0.1MnO3/0.05wt%Nb-doped SrTiO3 heteroepitaxial junctions

Science.gov (United States)

Qi, Yaping; Ni, Hao; Zheng, Ming; Zeng, Jiali; Jiang, Yucheng; Gao, Ju

2018-05-01

Excellent photo detectors need to have the rapid response and good repeatability from the requirement of industrial applications. In this paper, transport behavior and opto-response of heterostructures made with La0.9Hf0.1MnO3 and 0.05wt%Nb-doped SrTiO3 were investigated. The heterojunctions exhibited an excellent rectifying feature with very low leakage in a broad temperature region (from 40 to 300 K). These thin films presented persistent and stable photovoltages upon light illumination. Rapid shift between small and large voltages corresponding to "light OFF" and "light ON" states, respectively, was observed, demonstrating reliable photo detection behavior. A semiconductor laser with a wavelength of 650 nm was used as the light source. It is also noted that the observed photovoltages are strongly determined by light intensity. The injection of photoexcited charge carriers (electrons) could be responsible for the appearance of the observed opto-response. Such manipulative features by light irradiation exhibit great potential for light detectors for visible light.

Photoresponse in La0.9Hf0.1MnO3/0.05wt%Nb-doped SrTiO3 heteroepitaxial junctions

Directory of Open Access Journals (Sweden)

Yaping Qi

2018-05-01

Full Text Available Excellent photo detectors need to have the rapid response and good repeatability from the requirement of industrial applications. In this paper, transport behavior and opto-response of heterostructures made with La0.9Hf0.1MnO3 and 0.05wt%Nb-doped SrTiO3 were investigated. The heterojunctions exhibited an excellent rectifying feature with very low leakage in a broad temperature region (from 40 to 300 K. These thin films presented persistent and stable photovoltages upon light illumination. Rapid shift between small and large voltages corresponding to “light OFF” and “light ON” states, respectively, was observed, demonstrating reliable photo detection behavior. A semiconductor laser with a wavelength of 650 nm was used as the light source. It is also noted that the observed photovoltages are strongly determined by light intensity. The injection of photoexcited charge carriers (electrons could be responsible for the appearance of the observed opto-response. Such manipulative features by light irradiation exhibit great potential for light detectors for visible light.

Critical experiments with 4.31 wt % 235U-enriched UO2 rods in highly borated water lattices

International Nuclear Information System (INIS)

Durst, B.M.; Bierman, S.R.; Clayton, E.D.

1982-08-01

A series of critical experiments were performed with 4.31 wt % 235 U enriched UO 2 fuel rods immersed in water containing various concentrations of boron ranging up to 2.55 g/l. The boron was added in the form of boric acid (H 3 BO 3 ). Critical experimental data were obtained for two different lattice pitches wherein the water-to-uranium oxide volume ratios were 1.59 and 1.09. The experiments provide benchmarks on heavily borated systems for use in validating calculational techniques employed in analyzing fuel shipping casks and spent fuel storage systems that may utilize boron for criticality control

Microstructure, Tensile and Fatigue Properties of Al-5 wt.%Mg Alloy Manufactured by Twin Roll Strip Casting

Science.gov (United States)

Heo, Joon-Young; Baek, Min-Seok; Euh, Kwang-Jun; Lee, Kee-Ahn

2018-04-01

This study investigated the microstructure, tensile and fatigue properties of Al-5 wt.%Mg alloy manufactured by twin roll strip casting. Strips cast as a fabricated (F) specimen and a specimen heat treated (O) at 400 °C/5 h were produced and compared. In the F specimen, microstructural observation discovered clustered precipitates in the center area, while in the O specimen precipitates were relatively more evenly distributed. Al, Al6(Mn, Fe), Mg2Al3 and Mg2Si phases were observed. However, most of the Mg2Al3 phase in the heat-treated O specimen was dissolved. A room temperature tensile test measured yield strength of 177.7 MPa, ultimate tensile strength of 286.1 MPa and elongation of 11.1% in the F specimen and 167.7 MPa (YS), 301.5 MPa (UTS) and 24.6% (EL) in the O specimen. A high cycle fatigue test measured a fatigue limit of 145 MPa in the F specimen and 165 MPa in the O specimen, and the O specimen achieved greater fatigue properties in all fatigue stress conditions. The tensile and fatigue fracture surfaces of the above-mentioned specimens were observed, and this study attempted to investigate the tensile and fatigue deformation behavior of strip cast Al-5 wt.%Mg based on the findings.

Muscle spindles exhibit core lesions and extensive degeneration of intrafusal fibers in the Ryr1I4895T/wt mouse model of core myopathy

International Nuclear Information System (INIS)

Zvaritch, Elena; MacLennan, David H.

2015-01-01

Muscle spindles from the hind limb muscles of adult Ryr1 I4895T/wt (IT/+) mice exhibit severe structural abnormalities. Up to 85% of the spindles are separated from skeletal muscle fascicles by a thick layer of connective tissue. Many intrafusal fibers exhibit degeneration, with Z-line streaming, compaction and collapse of myofibrillar bundles, mitochondrial clumping, nuclear shrinkage and pyknosis. The lesions resemble cores observed in the extrafusal myofibers of this animal model and of core myopathy patients. Spindle abnormalities precede those in extrafusal fibers, indicating that they are a primary pathological feature in this murine Ryr1-related core myopathy. Muscle spindle involvement, if confirmed for human core myopathy patients, would provide an explanation for an array of devastating clinical features characteristic of these diseases and provide novel insights into the pathology of RYR1-related myopathies. - Highlights: • Muscle spindles exhibit structural abnormalities in a mouse model of core myopathy. • Myofibrillar collapse and mitochondrial clumping is observed in intrafusal fibers. • Myofibrillar degeneration follows a pattern similar to core formation in extrafusal myofibers. • Muscle spindle abnormalities are a part of the pathological phenotype in the mouse model of core myopathy. • Direct involvement of muscle spindles in the pathology of human RYR1-related myopathies is proposed

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Science.gov (United States)

Sharp, Andrew J; Hansen, Sierra; Selzer, Rebecca R; Cheng, Ze; Regan, Regina; Hurst, Jane A; Stewart, Helen; Price, Sue M; Blair, Edward; Hennekam, Raoul C; Fitzpatrick, Carrie A; Segraves, Rick; Richmond, Todd A; Guiver, Cheryl; Albertson, Donna G; Pinkel, Daniel; Eis, Peggy S; Schwartz, Stuart; Knight, Samantha J L; Eichler, Evan E

2006-09-01

Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic disorders. We tested 290 individuals with mental retardation by BAC array comparative genomic hybridization and identified 16 pathogenic rearrangements, including de novo microdeletions of 17q21.31 found in four individuals. Using oligonucleotide arrays, we refined the breakpoints of this microdeletion, defining a 478-kb critical region containing six genes that were deleted in all four individuals. We mapped the breakpoints of this deletion and of four other pathogenic rearrangements in 1q21.1, 15q13, 15q24 and 17q12 to flanking segmental duplications, suggesting that these are also sites of recurrent rearrangement. In common with the 17q21.31 deletion, these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions.

Co-administration of α-GalCer analog and TLR4 agonist induces robust CD8+ T-cell responses to PyCS protein and WT-1 antigen and activates memory-like effector NKT cells

OpenAIRE

Coelho-dos-Reis, Jordana G.; Huang, Jing; Tsao, Tiffany; Pereira, Felipe V.; Funakoshi, Ryota; Nakajima, Hiroko; Sugiyama, Haruo; Tsuji, Moriya

2016-01-01

In the present study, the combined adjuvant effect of 7DW8-5, a potent α-GalCer-analog, and monophosphoryl lipid A (MPLA), a TLR4 agonist, on the induction of vaccine-induced CD8+ T-cell responses and protective immunity was evaluated. Mice were immunized with peptides corresponding to the CD8+ T-cell epitopes of a malaria antigen, a circumsporozoite protein of Plasmodium yoelii, and a tumor antigen, a Wilms Tumor antigen-1 (WT-1), together with 7DW8-5 and MPLA, as an adjuvant. These immuniza...

Radiation-enhanced precipitation in a V-10 wt % Ti alloy

International Nuclear Information System (INIS)

Agarwal, S.C.; Taylor, A.

1976-01-01

A V-10 wt % Ti alloy was irradiated with 2.7 MeV 51 V + at 650 0 C to doses of 2 to 60 dpa. No void swelling was observed at any dose. The irradiation resulted in an enhancement of a precipitation process similar to that observed in unirradiated materials. The precipitates in irradiated specimens were found to have the NaCl-type cubic crystal structure with a lattice parameter of TiO. The orientation relationship between the matrix and the precipitates was the same as that observed under thermal equilibrium conditions in unirradiated materials

Reaction layer in U-7WT%MO/Al diffusion couples

International Nuclear Information System (INIS)

Mirandou, M.I.; Balart, S.N.; Ortiz, M.; Granovsky, M.S.

2003-01-01

New results of the reaction layer characterization between γ (U-7wt%Mo) alloy and Al, in chemical diffusion couples, are presented. The analysis was performed using optical and scanning electron microscopy with EDAX and X-ray diffraction techniques. Besides the main components (U, Mo)Al 3 and (U, Mo)Al 4 , already reported, two ternary compounds of high Al content have been identified in the reaction layer when it grew in retained or decomposed γ (U, Mo) phase, respectively. The drastic consequence on the interdiffusion behavior due to the thermal instability of the retained γ (U, Mo) phase is discussed. (author)

Dispersed hydroxyapatite and modified bioglass 45S5 composites: sintering behavior of glass matrix ranging from 20 to 30 wt% in calcium oxide investigation

Energy Technology Data Exchange (ETDEWEB)

Silva, A.C.; Parra-Silva, J.; Santos, S.C.; Mello-Castanho, S.R.H, E-mail: dasilva.ac@uol.com.br [Instituto de Pesquisas Enegeticas e Nucleares (IPEN/CNEN-SP), DP (Brazil); Braga, F.J.C. [Consulmat Materiais de Referencia, Solucoes e Servicos, Sao Carlos, SP (Brazil); Setz, L.F.G. [Universidade Federal do ABC (UFABC), Santo Andre, SP (Brazil)

2014-07-01

Biomaterial technology plays an important role in cell-based tissue proliferation environment creation. The hydroxyapatite (HA) bioceramics are reference materials to employment as a bone substitute, however, their slow rate of degradation and its low rate of bioactivity (Ib) are presented as limiting factors for application as bone graft. In contrast, the bioglass (BG) is a resorbable and osteoinductive material and can act as fluxing in HA/BG composites. The present work objective the development of HA/BG (40/70wt%) composites, Three compositions of the 45S5 bioglass derived ranging from 20-30wt% in CaO were used in order to study the sintering behavior of these materials with hydroxyapatite 30wt% dispersed. The composites were uniaxially pressed in the form of cylinders and sinterized at (1100°C/1h). The characterization was made employing scanning electron microscopy, Infra-Red Spectrometry, X-ray diffraction and hydrolytic resistance test. The results indicate the potential use of the materials developed for applications like bone graft.(author)

Dispersed hydroxyapatite and modified bioglass 45S5 composites: sintering behavior of glass matrix ranging from 20 to 30 wt% in calcium oxide investigation

International Nuclear Information System (INIS)

Silva, A.C.; Parra-Silva, J.; Santos, S.C.; Mello-Castanho, S.R.H; Braga, F.J.C.; Setz, L.F.G.

2014-01-01

Biomaterial technology plays an important role in cell-based tissue proliferation environment creation. The hydroxyapatite (HA) bioceramics are reference materials to employment as a bone substitute, however, their slow rate of degradation and its low rate of bioactivity (Ib) are presented as limiting factors for application as bone graft. In contrast, the bioglass (BG) is a resorbable and osteoinductive material and can act as fluxing in HA/BG composites. The present work objective the development of HA/BG (40/70wt%) composites, Three compositions of the 45S5 bioglass derived ranging from 20-30wt% in CaO were used in order to study the sintering behavior of these materials with hydroxyapatite 30wt% dispersed. The composites were uniaxially pressed in the form of cylinders and sinterized at (1100°C/1h). The characterization was made employing scanning electron microscopy, Infra-Red Spectrometry, X-ray diffraction and hydrolytic resistance test. The results indicate the potential use of the materials developed for applications like bone graft.(author)

Porosity Effect on Thermal Properties of Al-12 wt % Si/Graphite Composites

Directory of Open Access Journals (Sweden)

José-Miguel Molina

2017-02-01

Full Text Available The effect of porosity on the thermal conductivity and the coefficient of thermal expansion of composites obtained by infiltration of Al-12 wt % Si alloy into graphite particulate preforms has been determined. Highly irregular graphite particles were used to fabricate the preforms. The thermal conductivity of these composites gradually increases with the applied infiltration pressure given the inherent reduction in porosity. A simple application of the Hasselman-Johnson model in a two-step procedure (that accounts for the presence of both graphite particles and voids randomly dispersed in a metallic matrix offers a good estimation of the experimental results. As concerns the coefficient of thermal expansion, the results show a slight increase with saturation being approximately in the range 14.6–15.2 × 10−6 K−1 for a saturation varying from 86% up to 100%. Results lie within the standard Hashin-Strikman bounds.

Porosity Effect on Thermal Properties of Al-12 wt % Si/Graphite Composites.

Science.gov (United States)

Molina, José-Miguel; Rodríguez-Guerrero, Alejandro; Louis, Enrique; Rodríguez-Reinoso, Francisco; Narciso, Javier

2017-02-14

The effect of porosity on the thermal conductivity and the coefficient of thermal expansion of composites obtained by infiltration of Al-12 wt % Si alloy into graphite particulate preforms has been determined. Highly irregular graphite particles were used to fabricate the preforms. The thermal conductivity of these composites gradually increases with the applied infiltration pressure given the inherent reduction in porosity. A simple application of the Hasselman-Johnson model in a two-step procedure (that accounts for the presence of both graphite particles and voids randomly dispersed in a metallic matrix) offers a good estimation of the experimental results. As concerns the coefficient of thermal expansion, the results show a slight increase with saturation being approximately in the range 14.6-15.2 × 10 -6 K -1 for a saturation varying from 86% up to 100%. Results lie within the standard Hashin-Strikman bounds.

Thermomechanical process optimization of U-10 wt% Mo – Part 1: high-temperature compressive properties and microstructure

Energy Technology Data Exchange (ETDEWEB)

Joshi, Vineet V., E-mail: vineet.joshi@pnnl.gov [Pacific Northwest National Laboratory, Richland, WA 99354 (United States); Nyberg, Eric A.; Lavender, Curt A.; Paxton, Dean [Pacific Northwest National Laboratory, Richland, WA 99354 (United States); Garmestani, Hamid [Georgia Institute of Technology, Atlanta, GA 30332 (United States); Burkes, Douglas E. [Pacific Northwest National Laboratory, Richland, WA 99354 (United States)

2015-10-15

Nuclear power research facilities require alternatives to existing highly enriched uranium alloy fuel. One option for a high density metal fuel is uranium alloyed with 10 wt% molybdenum (U–10Mo). Fuel fabrication process development requires specific mechanical property data that, to date has been unavailable. In this work, as-cast samples were compression tested at three strain rates over a temperature range of 400–800 °C to provide data for hot rolling and extrusion modeling. The results indicate that with increasing test temperature the U–10Mo flow stress decreases and becomes more sensitive to strain rate. In addition, above the eutectoid transformation temperature, the drop in material flow stress is prominent and shows a strain-softening behavior, especially at lower strain rates. Room temperature X-ray diffraction and scanning electron microscopy combined with energy dispersive spectroscopy analysis of the as-cast and compression tested samples were conducted. The analysis revealed that the as-cast samples and the samples tested below the eutectoid transformation temperature were predominantly γ phase with varying concentration of molybdenum, whereas the ones tested above the eutectoid transformation temperature underwent significant homogenization.

RRR and thermal conductivity of Ag and Ag0.2wt%Mg alloy in Ag/Bi-2212 wires

Energy Technology Data Exchange (ETDEWEB)

Li, Pei [Fermilab; Ye, L. [North Carolina State U.; Jiang. J., Jiang. J. [Natl. High Mag. Field Lab.; Shen, T. [Fermilab

2015-08-19

The residual resistivity ratio (RRR) and thermal conductivity of metal matrix in metal/superconductor composite wires are important parameters for designing superconducting magnets. However, the resistivity of silver in reacted Ag/Bi-2212 wires has yet to be determined over temperature range from 4.2 K to 80 K because Bi-2212 filaments have a critical transition temperature Tc of ~ 80 K, and because it is unknown whether the RRR of Ag/Bi-2212 degrades with Cu diffusing from Bi-2212 filaments into silver sheathes at elevated temperatures and to what degree it varies with heat treatment. We measured the resistivity of stand-alone Ag and AgMg (Ag-0.2wt%Mg) wires as well as the resistivity of Ag and Ag- 0.2wt%Mg in the state-of-the-art Ag/Bi-2212 round wires reacted in 1 bar oxygen at 890 °C for 1, 8, 24 and 48 hours and quickly cooled to room temperature. The heat treatment was designed to reduce the critical current Ic of Bi-2212 wires to nearly zero while allowing Cu loss to fully manifest itself. We determined that pure silver exhibits a RRR of ~ 220 while the oxide-dispersion strengthened AgMg exhibits a RRR of ~ 5 in stand-alone samples. A surprising result is that the RRR of silver in the composite round wires doesn’t degrade with extended time at 890 °C for up to 48 hours. This surprising result may be explained by our observation that the Cu that diffuses into the silver tends to form Cu2O precipitates in oxidizing atmosphere, instead of forming Ag-Cu solution alloy. We also measured the thermal conductivity and the magneto-resistivity of pure Ag and Ag-0.2 wt%Mg from 4.2 K to 300 K in magnetic fields up to 14.8 T and summarized them using a Kohler plot.

Effects of laser power during laser assisted cold spraying of Al-12wt%Si on stainless steel

CSIR Research Space (South Africa)

Tlotleng, Monnamme

2012-10-01

Full Text Available as they help improve the integrity of coatings1. Tissue engineering is one application under which metal coatings can undergo corrosion and wear. The results are not desirable given the amount of toxicity associated with them. In tissue engineering...W. Porosity values are (a) 2.64%, (b) 0.16% and (c) 4.12%. ? We have successfully deposited Al-12wt%Si on stainless steel substrate; ? Laser power has significant impact on the adhesion properties of power particles on metals as well as the coating...

Influences of silicon on the work hardening behavior and hot deformation behavior of Fe–25 wt%Mn–(Si, Al) TWIP steel

International Nuclear Information System (INIS)

Li, Dejun; Feng, Yaorong; Song, Shengyin; Liu, Qiang; Bai, Qiang; Ren, Fengzhang; Shangguan, Fengshou

2015-01-01

Highlights: • Influence of Si on work hardening behavior of Fe–25 wt%Mn TWIP steel was investigated. • Influence of Si on hot deformation behavior of Fe–25 wt%Mn TWIP steel was studied. • Si blocks dislocation glide and favors mechanical twinning in Fe–25 wt%Mn TWIP steel. • The addition of Si increases the hot deformation activation energy of Fe–25 wt%Mn TWIP steel. • The addition of Si retards the nucleation and growth of DRX grains of Fe–25 wt%Mn TWIP steel. - Abstract: The influence of silicon on mechanical properties and hot deformation behavior of austenitic Fe–25 wt%Mn TWIP steel was investigated by means of the comparison research between 25Mn3Al and 25Mn3Si3Al steel. The results show that the 25Mn3Si3Al steel has higher yield strength and higher hardness than that of 25Mn3Al steel because of the solution strengthening caused by Si atoms and possesses higher uniform deformation ability and tensile strength than that of 25Mn3Al steel due to the higher work hardening ability of 25Mn3Si3Al steel. 25Mn3Si3Al steel presents a clear four-stage curve of work hardening rate in course of cold compression. Quite the opposite, the 25Mn3Al steel presents a monotonic decline curve of work hardening rate. The difference of the work hardening behavior between 25Mn3Al and 25Mn3Si3Al steel can be attributed to the decline of stacking fault energy (SFE) caused by the addition of 3 wt% Si. The dislocation glide plays an important role in the plastic deformation of 25Mn3Al steel even though the mechanical twinning is still one of the main deformation mechanisms. The 3 wt% Si added into the 25Mn3Al steel blocks the dislocation glide and promotes the mechanical twinning, and then the dislocation glide characteristics cannot be observed in cold deformed microstructure of 25Mn3Si3Al steel. The hot compression tests reveal that the hot deformation resistance of the 25Mn3Si3Al steel is significantly higher than that of the 25Mn3Al steel due to the solid

Study on the sintered characteristics and properties of nanostructured WC–15 wt% (Fe–Ni–Co) and WC–15 wt% Co hard metal alloys

Energy Technology Data Exchange (ETDEWEB)

Chang, Shih-Hsien, E-mail: changsh@ntut.edu.tw [Department of Materials and Mineral Resources Engineering, National Taipei University of Technology, Taipei 10608, Taiwan (China); Chang, Ming-Hung [Department of Materials and Mineral Resources Engineering, National Taipei University of Technology, Taipei 10608, Taiwan (China); Huang, Kuo-Tsung [Department of Auto-Mechanics, National Kangshan Agricultural Industrial Senior High School, Kaohsiung 82049, Taiwan (China)

2015-11-15

In this work, four different vacuum sintering temperatures (1250 °C, 1300 °C, 1350 °C and 1400 °C) were studied to determine the optimal process parameters of nano WC–15 wt% (Fe–Ni–Co) and WC–15 wt% Co sintered hard metal alloys. Experimental results showed that the optimal sintering temperatures for nano WC–(Fe–Ni–Co) and WC–Co alloys were 1300 °C and 1350 °C for 1 h, respectively. The sintered nano WC–(Fe–Ni–Co) and WC–Co hard metal alloys showed a good contiguity of 0.44 and 0.42; hardness was enhanced to HRA 90.83 and 90.92; the transverse rupture strength (TRS) increased to 2567.97 and 2860.08 MPa; and K{sub IC} was 16.23 and 12.33 MPa√m, respectively. Although the nano WC–(Fe–Ni–Co) alloys possessed a slightly lower TRS value, they exhibited superior fracture toughness (K{sub IC}) and hardness similar to that of the nano WC–Co material. Significantly, nano WC–(Fe–Ni–Co) alloys could be sintered at a lower temperature and still retained their excellent mechanical properties. - Graphical abstract: The following figure shows the fracture morphology of the WC–(Fe–Ni–Co) and WC–Co specimens by means of high-magnification SEM after the K{sub IC} tests. Fig. a shows that numerous binder phases (Fe–Ni–Co) existed in the crack areas, which resisted the penetration and extension of the cracks. Due to the bridging effect of the binder phase, the stress concentration of the crack tip will be resolved through plastic deformation; thus, the cracks did not continue to extend. Once the deformation reaches a critical value, the crack propagation occurs. Meanwhile, the binder phase can link together the two crack faces through the bridging process. Although parts of the cracked areas also showed the bridging effect in the WC–Co specimens, as shown by the arrows (Fig. b), the crack propagation path was not obviously affected. This result corresponds to the tortuosity phenomenon. Consequently, the bridging process

Oncogenic activation of FOXR1 by 11q23 intrachromosomal deletion-fusions in neuroblastoma

NARCIS (Netherlands)

Santo, E. E.; Ebus, M. E.; Koster, J.; Schulte, J. H.; Lakeman, A.; van Sluis, P.; Vermeulen, J.; Gisselsson, D.; Øra, I.; Lindner, S.; Buckley, P. G.; Stallings, R. L.; Vandesompele, J.; Eggert, A.; Caron, H. N.; Versteeg, R.; Molenaar, J. J.

2012-01-01

Neuroblastoma tumors frequently show loss of heterozygosity of chromosome 11q with a shortest region of overlap in the 11q23 region. These deletions are thought to cause inactivation of tumor suppressor genes leading to haploinsufficiency. Alternatively, micro-deletions could lead to gene fusion

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.

A Dosimetric Comparison of Breast Radiotherapy Techniques to Treat Locoregional Lymph Nodes Including the Internal Mammary Chain.