Genetic, chromosomal, and syndromic causes of neural tube defects

Science.gov (United States)

Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

2014-01-01

Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

Exploring Relationships Among Belief in Genetic Determinism, Genetics Knowledge, and Social Factors

Science.gov (United States)

Gericke, Niklas; Carver, Rebecca; Castéra, Jérémy; Evangelista, Neima Alice Menezes; Marre, Claire Coiffard; El-Hani, Charbel N.

2017-12-01

Genetic determinism can be described as the attribution of the formation of traits to genes, where genes are ascribed more causal power than what scientific consensus suggests. Belief in genetic determinism is an educational problem because it contradicts scientific knowledge, and is a societal problem because it has the potential to foster intolerant attitudes such as racism and prejudice against sexual orientation. In this article, we begin by investigating the very nature of belief in genetic determinism. Then, we investigate whether knowledge of genetics and genomics is associated with beliefs in genetic determinism. Finally, we explore the extent to which social factors such as gender, education, and religiosity are associated with genetic determinism. Methodologically, we gathered and analyzed data on beliefs in genetic determinism, knowledge of genetics and genomics, and social variables using the "Public Understanding and Attitudes towards Genetics and Genomics" (PUGGS) instrument. Our analyses of PUGGS responses from a sample of Brazilian university freshmen undergraduates indicated that (1) belief in genetic determinism was best characterized as a construct built up by two dimensions or belief systems: beliefs concerning social traits and beliefs concerning biological traits; (2) levels of belief in genetic determination of social traits were low, which contradicts prior work; (3) associations between knowledge of genetics and genomics and levels of belief in genetic determinism were low; and (4) social factors such as age and religiosity had stronger associations with beliefs in genetic determinism than knowledge. Although our study design precludes causal inferences, our results raise questions about whether enhancing genetic literacy will decrease or prevent beliefs in genetic determinism.

Ultrasonic determination of the size of defects

International Nuclear Information System (INIS)

Zetterwall, T.

1989-01-01

The paper presents results from a study of ultrasonic testing of materials. The main topic has been the determination of the size, length and deep, of cracks or defects in stainless steel plates. (K.A.E)

Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect.

Science.gov (United States)

Vogelaar, Ingrid P; Ligtenberg, Marjolijn J L; van der Post, Rachel S; de Voer, Richarda M; Kets, C Marleen; Jansen, Trees J G; Jacobs, Liesbeth; Schreibelt, Gerty; de Vries, I Jolanda M; Netea, Mihai G; Hoogerbrugge, Nicoline

2016-04-01

Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunological assays on peripheral blood mononuclear cells revealed an impaired immune response upon stimulation with Candida albicans, characterized by a defective production of the cytokine interleukin-17. Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk.

Genetic analysis of metabolic defects in the spontaneously hypertensive rat

Czech Academy of Sciences Publication Activity Database

Pravenec, Michal; Zídek, Václav; Musilová, Alena; Šimáková, Miroslava; Kostka, Vlastimil; Mlejnek, Petr; Křen, Vladimír; Křenová, D.; Bílá, V.; Míková, B.; Jáchymová, M.; Horký, K.; Kazdová, L.; St.Lezin, E.; Kurtz, W. T.

2002-01-01

Roč. 13, č. 5 (2002), s. 253-258 ISSN 0938-8990 R&D Projects: GA MŠk LN00A079; GA ČR GV204/98/K015; GA ČR GA305/00/1646; GA MŠk NB5299 Grant - others:NIH(US) RO1 HL56028; NIH(US) PO1 HL35018; HHMI(US) 55000331 Institutional research plan: CEZ:AV0Z5011922 Keywords : metabolic defects * spontaneously hypertensive rat Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.233, year: 2002

Determination of linear defect depths from eddy currents disturbances

Science.gov (United States)

Ramos, Helena Geirinhas; Rocha, Tiago; Pasadas, Dário; Ribeiro, Artur Lopes

2014-02-01

One of the still open problems in the inspection research concerns the determination of the maximum depth to which a surface defect goes. Eddy current testing being one of the most sensitive well established inspection methods, able to detect and characterize different type of defects in conductive materials, is an adequate technique to solve this problem. This paper reports a study concerning the disturbances in the magnetic field and in the lines of current due to a machined linear defect having different depths in order to extract relevant information that allows the determination of the defect characteristics. The image of the eddy currents (EC) is paramount to understand the physical phenomena involved. The EC images for this study are generated using a commercial finite element model (FLUX). The excitation used produces a uniform magnetic field on the plate under test in the absence of defects and the disturbances due to the defects are compared with those obtained from experimental measurements. In order to increase the limited penetration depth of the method giant magnetoresistors (GMR) are used to lower the working frequency. The geometry of the excitation planar coil produces a uniform magnetic field on an area of around the GMR sensor, inducing a uniform eddy current distribution on the plate. In the presence of defects in the material surface, the lines of currents inside the material are deviated from their uniform direction and the magnetic field produced by these currents is sensed by the GMR sensor. Besides the theoretical study of the electromagnetic system, the paper describes the experiments that have been carried out to support the theory and conclusions are drawn for cracks having different depths.

Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID

Directory of Open Access Journals (Sweden)

Saleha Shamim

2017-05-01

Full Text Available Intellectual disability (ID is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID or non-syndromic (NS-ID. ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID.

How Darwinian reductionism refutes genetic determinism.

Science.gov (United States)

Rosoff, Philip M; Rosenberg, Alex

2006-03-01

Genetic determinism labels the morally problematical claim that some socially significant traits, traits we care about, such as sexual orientation, gender roles, violence, alcoholism, mental illness, intelligence, are largely the results of the operation of genes and not much alterable by environment, learning or other human intervention. Genetic determinism does not require that genes literally fix these socially significant traits, but rather that they constrain them within narrow channels beyond human intervention. In this essay we analyze genetic determinism in light of what is now known about the inborn error of metabolism phenylketonuria (PKU), which has for so long been the poster child 'simple' argument in favor of some form of genetic determinism. We demonstrate that this case proves the exact opposite of what it has been proposed to support and provides a strong refutation of genetic determinism in all its guises.

Basement Membrane Defects in Genetic Kidney Diseases

Directory of Open Access Journals (Sweden)

Christine Chew

2018-01-01

Full Text Available The glomerular basement membrane (GBM is a specialized structure with a significant role in maintaining the glomerular filtration barrier. This GBM is formed from the fusion of two basement membranes during development and its function in the filtration barrier is achieved by key extracellular matrix components including type IV collagen, laminins, nidogens, and heparan sulfate proteoglycans. The characteristics of specific matrix isoforms such as laminin-521 (α5β2γ1 and the α3α4α5 chain of type IV collagen are essential for the formation of a mature GBM and the restricted tissue distribution of these isoforms makes the GBM a unique structure. Detailed investigation of the GBM has been driven by the identification of inherited abnormalities in matrix proteins and the need to understand pathogenic mechanisms causing severe glomerular disease. A well-described hereditary GBM disease is Alport syndrome, associated with a progressive glomerular disease, hearing loss, and lens defects due to mutations in the genes COL4A3, COL4A4, or COL4A5. Other proteins associated with inherited diseases of the GBM include laminin β2 in Pierson syndrome and LMX1B in nail patella syndrome. The knowledge of these genetic mutations associated with GBM defects has enhanced our understanding of cell–matrix signaling pathways affected in glomerular disease. This review will address current knowledge of GBM-associated abnormalities and related signaling pathways, as well as discussing the advances toward disease-targeted therapies for patients with glomerular disease.

Effect of Concomitant Birth Defects and Genetic Anomalies on Infant Mortality in Tetralogy of Fallot.

Science.gov (United States)

Jernigan, Eric G; Strassle, Paula D; Stebbins, Rebecca C; Meyer, Robert E; Nelson, Jennifer S

2017-08-15

A substantial proportion of infants born with tetralogy of Fallot (TOF) die in infancy. A better understanding of the heterogeneity associated with TOF, including extracardiac malformations and chromosomal anomalies is vital to stratifying risk and optimizing outcomes during infancy. Using the North Carolina Birth Defects Monitoring Program, infants diagnosed with TOF and born between 2003 and 2012 were included. Kaplan-Meier survival curves were used to estimate cumulative 1-year mortality, stratified by the presence of concomitant birth defects (BDs) and chromosomal anomalies. Multivariable logistic regression was used to estimate the direct effect of each concomitant BD, after adjusting for all others. A total of 496 infants with TOF were included, and 15% (n = 76) died. The number of concomitant BD systems was significantly associated with the risk of death at 1-year, p < 0.0001. Specifically, the risk of mortality was 8% among infants with TOF with or without additional cardiac defects, 16% among infants with TOF and 1 extracardiac BD system, 19% among infants with 2 extracardiac BD systems, and 39% among infants with ≥ 3 extracardiac BD systems. After adjustment, concomitant eye and gastrointestinal defects were significantly associated increased with 1-year mortality, odds ratio 2.83 (95% confidence interval, 1.08-7.32) and odds ratio 4.43 (95% confidence interval, 1.57, 12.45), respectively. Infants with trisomy 13 or trisomy 18 were also significantly more likely to die, p < 0.0001. Both concomitant BDs and genetic anomalies increase the risk of mortality among infants with TOF. Future studies are needed to identify the underlying genetic and socioeconomic risk factors for high-risk TOF infants. Birth Defects Research 109:1154-1165, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

Directory of Open Access Journals (Sweden)

M. Cristina Digilio

2011-07-01

Full Text Available Atrioventricular canal defect (AVCD is a common congenital heart defect (CHD, representing 7.4% of all cardiac malformations, considered secondary to an extracellular matrix anomaly. The AVCD is associated with extracardiac defects in about 75% of the cases. In this review we analyzed different syndromic AVCDs, in particular those associated with polydactyly disorders, which show remarkable genotype-phenotype correlations. Chromo - some imbalances more frequently associated with AVCD include Down syndrome, deletion 8p23 and deletion 3p25, while mendelian disorders include Noonan syndrome and related RASopathies, several polydactyly syndromes, CHARGE and 3C (cranio-cerebello-cardiac syndrome. The complete form of AVCD is prevalent in patients with chromosomal imbalances. Additional cardiac defects are found in patients affected by chromosomal imbalances different from Down syndrome. Left-sided obstructive lesions are prevalently found in patients with RASopathies. Patients with deletion 8p23 often display AVCD with tetralogy of Fallot or with pulmonary valve stenosis. Tetralogy of Fallot is the only additional cardiac defect found in patients with Down syndrome and AVCD. On the other hand, the association of AVCD and tetralogy of Fallot is also quite characteristic of CHARGE and 3C syndromes. Heterotaxia defects, including common atrium and anomalous pulmonary venous return, occur in patients with AVCD associated with polydactyly syndromes (Ellis-van Creveld, short rib polydactyly, oral-facial-digital, Bardet-Biedl, and Smith-Lemli-Opitz syndromes. The initial clinical evidence of anatomic similarities between AVCD and heterotaxia in polydactyly syndromes was corroborated and explained by experimental studies in transgenic mice. These investigations have suggested the involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly and heterotaxia, and ciliary dysfunction was detected as pathomechanism for these disorders

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence

DEFF Research Database (Denmark)

Bjørsum-Meyer, Thomas; Herlin, Morten; Qvist, Niels

2016-01-01

Background: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac...... defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge...... in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. Case presentation: Our first case was a white girl...

Blood flow patterns underlie developmental heart defects.

Science.gov (United States)

Midgett, Madeline; Thornburg, Kent; Rugonyi, Sandra

2017-03-01

Although cardiac malformations at birth are typically associated with genetic anomalies, blood flow dynamics also play a crucial role in heart formation. However, the relationship between blood flow patterns in the early embryo and later cardiovascular malformation has not been determined. We used the chicken embryo model to quantify the extent to which anomalous blood flow patterns predict cardiac defects that resemble those in humans and found that restricting either the inflow to the heart or the outflow led to reproducible abnormalities with a dose-response type relationship between blood flow stimuli and the expression of cardiac phenotypes. Constricting the outflow tract by 10-35% led predominantly to ventricular septal defects, whereas constricting by 35-60% most often led to double outlet right ventricle. Ligation of the vitelline vein caused mostly pharyngeal arch artery malformations. We show that both cardiac inflow reduction and graded outflow constriction strongly influence the development of specific and persistent abnormal cardiac structure and function. Moreover, the hemodynamic-associated cardiac defects recapitulate those caused by genetic disorders. Thus our data demonstrate the importance of investigating embryonic blood flow conditions to understand the root causes of congenital heart disease as a prerequisite to future prevention and treatment. NEW & NOTEWORTHY Congenital heart defects result from genetic anomalies, teratogen exposure, and altered blood flow during embryonic development. We show here a novel "dose-response" type relationship between the level of blood flow alteration and manifestation of specific cardiac phenotypes. We speculate that abnormal blood flow may frequently underlie congenital heart defects. Copyright © 2017 the American Physiological Society.

Molecular marker studies in riverine buffaloes, for characterization and diagnosis of genetic defects

International Nuclear Information System (INIS)

Yadav, B.R.

2005-01-01

The buffalo is probably the last livestock species to have been domesticated, with many genetic, physiological and behavioural traits not yet well understood. Molecular markers have been used for characterizing animals and breeds, diagnosing diseases and identifying anatomical and physiological anomalies. RFLP studies showed low heterozygosity, but genomic and oligonucleotide probes showed species-specific bands useful for identification of carcass or other unknown samples. Use of RAPD revealed band frequencies, band sharing frequencies, genetic distances, and genetic and identity indexes in different breeds. Bovine microsatellite primers indicate that 70.9% of bovine loci were conserved in buffalo. Allele numbers, sizes, frequencies, heterozygosity and polymorphism information content showed breed-specific patterns. Different marker types - genomic and oligonucleotide probes, RAPD and microsatellites - are useful in parent identification. Individual specific DNA fingerprinting techniques were applied with twin-born animal (XX/XY) chimerism, sex identification, anatomically defective and XO individuals. Molecular markers are a potential tool for geneticists and breeders to evaluate existing germplasm and to manipulate it to develop character-specific strains and to provide the basis for effective genetic conservation. (author)

Determination of defects in depth (stereoradiography)

International Nuclear Information System (INIS)

Carvalho, Gilberto

2000-01-01

After the identification of an internal defect, by means of the single radiographic process, it can be necessary to determine it's position to evaluate the importance of the service and to specify which side of the weld the piece should be cut in order to reduce the amount of material to be removed and, in a lot, the cost of repair. The single radiography image does not have perspective and can not show the tri-dimensional vision, and so, do not clearly indicate the relative positions of the various parts of the object, in the direction of the vision. Stereoradiography was idealized to overcome that limitation of the standard radiography and it requests the accomplishment of two exposures, separated by the normal interpupillary distance. In the present work, we use this technique in a simulated pore defect, commonly found in the welding processes, and we present the efficiency of the technique. The material employed was SAE 1020 steel, in several thickness pieces, covering the range of thickness that the use Ir-192 source is recommended. (author)

Schizophrenia with the 22q11.2 deletion and additional genetic defects: case history.

Science.gov (United States)

Toyosima, M; Maekawa, M; Toyota, T; Iwayama, Y; Arai, M; Ichikawa, T; Miyashita, M; Arinami, T; Itokawa, M; Yoshikawa, T

2011-09-01

The 22q11.2 deletion is the most prominent known genetic risk factor for schizophrenia, but its penetrance is at most approximately 50% suggesting that additional risk factors are required for disease progression. We examined a woman with schizophrenia with this deletion for such risk factors. She had high plasma pentosidine levels ('carbonyl stress') and a frameshift mutation in the responsible gene, GLO1. She also had a constant exotropia, so we examined the PHOX2B gene associated with both schizophrenia and strabismus, and detected a 5-alanine deletion. We propose that the combination of these genetic defects may have exceeded the threshold for the manifestation of schizophrenia.

Determining casting defects in near-net shape casting aluminum parts by computed tomography

Science.gov (United States)

Li, Jiehua; Oberdorfer, Bernd; Habe, Daniel; Schumacher, Peter

2018-03-01

Three types of near-net shape casting aluminum parts were investigated by computed tomography to determine casting defects and evaluate quality. The first, second, and third parts were produced by low-pressure die casting (Al-12Si-0.8Cu-0.5Fe-0.9Mg-0.7Ni-0.2Zn alloy), die casting (A356, Al-7Si-0.3Mg), and semi-solid casting (A356, Al-7Si-0.3Mg), respectively. Unlike die casting (second part), low-pressure die casting (first part) significantly reduced the formation of casting defects (i.e., porosity) due to its smooth filling and solidification under pressure. No significant casting defect was observed in the third part, and this absence of defects indicates that semi-solid casting could produce high-quality near-net shape casting aluminum parts. Moreover, casting defects were mostly distributed along the eutectic grain boundaries. This finding reveals that refinement of eutectic grains is necessary to optimize the distribution of casting defects and reduce their size. This investigation demonstrated that computed tomography is an efficient method to determine casting defects in near-net shape casting aluminum parts.

Detection and depth determination of corrosion defects in embedded bolts using ultrasonic testing technique

International Nuclear Information System (INIS)

Lin, Shan; Fukutomi, Hiroyuki; Yuya, Hideki; Ito, Keisuke

2011-01-01

A great number of anchor bolts are used to fix various components to concrete foundation in thermal and nuclear power plants. As aging power plants degrade, it is feared that defects resulted from corrosion may occur underground. In this paper, a measurement method utilizing the phased array technique is developed to detect such defects. Measurement results show that this method can detect local and circumferential corrosion defects introduced artificially, but defect echo position appears to be farther away from the bolt head than is actually the case. A finite element simulation of wave propagation shows that longitudinal waves excited by a phased array probe are mode converted and reflected at the defect and at bolt wall, which results in the position of the defect echo appearing to be farther away than the defect actually is. Moreover, an approach for determining the depth of defects using measurement results is also proposed based on numerical results. The depths determined by the proposed approach agree with the actual depths with a maximum error of 1.8 mm and a RMSE of 1.06 mm. (author)

Optimal Fluorescence Waveband Determination for Detecting Defective Cherry Tomatoes Using a Fluorescence Excitation-Emission Matrix

Directory of Open Access Journals (Sweden)

In-Suck Baek

2014-11-01

Full Text Available A multi-spectral fluorescence imaging technique was used to detect defective cherry tomatoes. The fluorescence excitation and emission matrix was used to measure for defects, sound surface and stem areas to determine the optimal fluorescence excitation and emission wavelengths for discrimination. Two-way ANOVA revealed the optimal excitation wavelength for detecting defect areas was 410 nm. Principal component analysis (PCA was applied to the fluorescence emission spectra of all regions at 410 nm excitation to determine the emission wavelengths for defect detection. The major emission wavelengths were 688 nm and 506 nm for the detection. Fluorescence images combined with the determined emission wavebands demonstrated the feasibility of detecting defective cherry tomatoes with >98% accuracy. Multi-spectral fluorescence imaging has potential utility in non-destructive quality sorting of cherry tomatoes.

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.

Science.gov (United States)

Bjørsum-Meyer, Thomas; Herlin, Morten; Qvist, Niels; Petersen, Michael B

2016-12-21

The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. Our first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases. We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center. All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed. The co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal

Genetic and modifying factors that determine the risk of brain tumors

DEFF Research Database (Denmark)

Montelli, Terezinha de Cresci Braga; Peraçoli, Maria Terezinha Serrão; Rogatto, Silvia Regina

2011-01-01

of tumor escape, CNS tumor immunology, immune defects that impair anti-tumor systemic immunity in brain tumor patients and local immuno-suppressive factors within CNS are also reviewed. New hope to treatment perspectives, as dendritic-cell-based vaccines is summarized too. Concluding, it seems well...... responses can alert immune system. However, it is necessary to clarify if individuals with both constitutional defects in immune functions and genetic instability have higher risk of developing brain tumors. Cytogenetic prospective studies and gene copy number variations analysis also must be performed...

Genetic Engineering and the Amelioration of Genetic Defect

Science.gov (United States)

Lederberg, Joshua

1970-01-01

Discusses the claims for a brave new world of genetic manipulation" and concludes that if we could agree upon applying genetic (or any other effective) remedies to global problems we probably would need no rescourse to them. Suggests that effective methods of preventing genetic disease are prevention of mutations and detection and…

Sex Determination, Sex Ratios, and Genetic Conflict

NARCIS (Netherlands)

Werren, John H.; Beukeboom, Leo W.

1998-01-01

Genetic mechanisms of sex determination are unexpectedly diverse and change rapidly during evolution. We review the role of genetic conflict as the driving force behind this diversity and turnover. Genetic conflict occurs when different components of a genetic system are subject to selection in

Non-destructive test method of determination of surface defects in objects

International Nuclear Information System (INIS)

Gibbons, C.B.; Sewell, M.H.; Taber, R.C.

1975-01-01

In the radiographic method, adsorbed radioactive gas, e.g. krypton 85, is used to determine surface defects such as failures, cracks, and breaks on, e.g. nozzle turbine blades. The surface defects preferably retain the radioactive gas. The defects can be identified by means of a radiographic silver halide emulsion or dispersion made intensive to high energy radiation which is put on the surface or held at a distance to it. Piazine, thiuram disulphide, nitro-1,2,3-benzothiazole or a combination of thiuram disulphide and piazine are amongst others suitable as desensitizing agents. To prevent the adsorbed gases from diffusing out of the defects, the surface can be coated with an insulating mass of e.g. a polymer. The silver halide emulsions are in the form of single, double, or ammoniac emulsions. (DG/LH) [de

Maternal obesity and tobacco use modify the impact of genetic variants on the occurrence of conotruncal heart defects.

Science.gov (United States)

Tang, Xinyu; Nick, Todd G; Cleves, Mario A; Erickson, Stephen W; Li, Ming; Li, Jingyun; MacLeod, Stewart L; Hobbs, Charlotte A

2014-01-01

Conotruncal heart defects (CTDs) are among the most severe birth defects worldwide. Studies of CTDs indicate both lifestyle behaviors and genetic variation contribute to the risk of CTDs. Based on a hybrid design using data from 616 case-parental and 1645 control-parental triads recruited for the National Birth Defects Prevention Study between 1997 and 2008, we investigated whether the occurrence of CTDs is associated with interactions between 921 maternal and/or fetal single nucleotide polymorphisms (SNPs) and maternal obesity and tobacco use. The maternal genotypes of the variants in the glutamate-cysteine ligase, catalytic subunit (GCLC) gene and the fetal genotypes of the variants in the glutathione S-transferase alpha 3 (GSTA3) gene were associated with an elevated risk of CTDs among obese mothers. The risk of delivering infants with CTDs among obese mothers carrying AC genotype for a variant in the GCLC gene (rs6458939) was 2.00 times the risk among those carrying CC genotype (95% confidence interval: 1.41, 2.38). The maternal genotypes of several variants in the glutathione-S-transferase (GST) family of genes and the fetal genotypes of the variants in the GCLC gene interacted with tobacco exposures to increase the risk of CTDs. Our study suggests that the genetic basis underlying susceptibility of the developing heart to the adverse effects of maternal obesity and tobacco use involve both maternal and embryonic genetic variants. These results may provide insights into the underlying pathophysiology of CTDs, and ultimately lead to novel prevention strategies.

Genetic sex determination and extinction.

Science.gov (United States)

Hedrick, Philip W; Gadau, Jürgen; Page, Robert E

2006-02-01

Genetic factors can affect the probability of extinction either by increasing the effect of detrimental variants or by decreasing the potential for future adaptive responses. In a recent paper, Zayed and Packer demonstrate that low variation at a specific locus, the complementary sex determination (csd) locus in Hymenoptera (ants, bees and wasps), can result in a sharply increased probability of extinction. Their findings illustrate situations in which there is a feedback process between decreased genetic variation at the csd locus owing to genetic drift and decreased population growth, resulting in an extreme type of extinction vortex for these ecologically important organisms.

Exploring Relationships among Belief in Genetic Determinism, Genetics Knowledge, and Social Factors

Science.gov (United States)

Gericke, Niklas; Carver, Rebecca; Castéra, Jérémy; Evangelista, Neima Alice Menezes; Marre, Claire Coiffard; El-Hani, Charbel N.

2017-01-01

Genetic determinism can be described as the attribution of the formation of traits to genes, where genes are ascribed more causal power than what scientific consensus suggests. Belief in genetic determinism is an educational problem because it contradicts scientific knowledge, and is a societal problem because it has the potential to foster…

Integrating genetic and toxicogenomic information for determining underlying susceptibility to developmental disorders.

Science.gov (United States)

Robinson, Joshua F; Port, Jesse A; Yu, Xiaozhong; Faustman, Elaine M

2010-10-01

To understand the complex etiology of developmental disorders, an understanding of both genetic and environmental risk factors is needed. Human and rodent genetic studies have identified a multitude of gene candidates for specific developmental disorders such as neural tube defects (NTDs). With the emergence of toxicogenomic-based assessments, scientists now also have the ability to compare and understand the expression of thousands of genes simultaneously across strain, time, and exposure in developmental models. Using a systems-based approach in which we are able to evaluate information from various parts and levels of the developing organism, we propose a framework for integrating genetic information with toxicogenomic-based studies to better understand gene-environmental interactions critical for developmental disorders. This approach has allowed us to characterize candidate genes in the context of variables critical for determining susceptibility such as strain, time, and exposure. Using a combination of toxicogenomic studies and complementary bioinformatic tools, we characterize NTD candidate genes during normal development by function (gene ontology), linked phenotype (disease outcome), location, and expression (temporally and strain-dependent). In addition, we show how environmental exposures (cadmium, methylmercury) can influence expression of these genes in a strain-dependent manner. Using NTDs as an example of developmental disorder, we show how simple integration of genetic information from previous studies into the standard microarray design can enhance analysis of gene-environment interactions to better define environmental exposure-disease pathways in sensitive and resistant mouse strains. © Wiley-Liss, Inc.

Congenital Heart Defects (For Parents)

Science.gov (United States)

... to be associated with genetic disorders, such as Down syndrome . But the cause of most congenital heart defects isn't known. While they can't be prevented, many treatments are available for the defects and related health ...

Cancers and genetic defects resulting from the use of various energy sources

International Nuclear Information System (INIS)

Myers, D.K.

1978-06-01

A review of recent literature on carcinogenic effects of chemical products derived from the combustion of organic fuels suggests that the numbers of fatal cancers and genetic defects induced by utilization of fossil fuels may be much greater than the numbers induced by utilization of nuclear power to produce the same amount of energy. Despite the uncertainties involved in these estimates, the maximum risk of fatal cancers due to carcinogenic by-products associated with the production of electricity by any of these methods appears to be remarkably low compared with the risk of other fatal hazards in Canada and the U.S.A. (author)

Genetic Diseases and Genetic Determinism Models in French Secondary School Biology Textbooks

Science.gov (United States)

Castera, Jeremy; Bruguiere, Catherine; Clement, Pierre

2008-01-01

The presentation of genetic diseases in French secondary school biology textbooks is analysed to determine the major conceptions taught in the field of human genetics. References to genetic diseases, and the processes by which they are explained (monogeny, polygeny, chromosomal anomaly and environmental influence) are studied in recent French…

Determination of defect content and defect profile in semiconductor heterostructures

International Nuclear Information System (INIS)

Zubiaga, A; Garcia, J A; Plazaola, F; Zuniga-Perez, J; Munoz-Sanjose, V

2011-01-01

In this article we present an overview of the technique to obtain the defects depth profile and width of a deposited layer and multilayer based on positron annihilation spectroscopy. In particular we apply the method to ZnO and ZnO/ZnCdO layers deposited on sapphire substrates. After introducing some terminology we first calculate the trend that the W/S parameters of the Doppler broadening measurements must follow, both in a qualitative and quantitative way. From this point we extend the results to calculate the width and defect profiles in deposited layer samples.

Determination of defect content and defect profile in semiconductor heterostructures

Energy Technology Data Exchange (ETDEWEB)

Zubiaga, A [Laboratory of Physics, HUT, PO Box 1100, 02015 TKK, Espoo (Finland); Garcia, J A; Plazaola, F [Zientzia eta Teknologia Fakultatea, Euskal Herriko Unbertsitatea, P. K. 644, 48080, Bilbao (Spain); Zuniga-Perez, J; Munoz-Sanjose, V, E-mail: fernando.plazaola@ehu.es [Universitat de Valencia, Departamento de Fisica Aplicada i Electromagnetisme, Dr. Moliner 50, 46100 Burjassot, Valencia (Spain)

2011-01-10

In this article we present an overview of the technique to obtain the defects depth profile and width of a deposited layer and multilayer based on positron annihilation spectroscopy. In particular we apply the method to ZnO and ZnO/ZnCdO layers deposited on sapphire substrates. After introducing some terminology we first calculate the trend that the W/S parameters of the Doppler broadening measurements must follow, both in a qualitative and quantitative way. From this point we extend the results to calculate the width and defect profiles in deposited layer samples.

Detection of Defective Sensors in Phased Array Using Compressed Sensing and Hybrid Genetic Algorithm

Directory of Open Access Journals (Sweden)

Shafqat Ullah Khan

2016-01-01

Full Text Available A compressed sensing based array diagnosis technique has been presented. This technique starts from collecting the measurements of the far-field pattern. The system linking the difference between the field measured using the healthy reference array and the field radiated by the array under test is solved using a genetic algorithm (GA, parallel coordinate descent (PCD algorithm, and then a hybridized GA with PCD algorithm. These algorithms are applied for fully and partially defective antenna arrays. The simulation results indicate that the proposed hybrid algorithm outperforms in terms of localization of element failure with a small number of measurements. In the proposed algorithm, the slow and early convergence of GA has been avoided by combining it with PCD algorithm. It has been shown that the hybrid GA-PCD algorithm provides an accurate diagnosis of fully and partially defective sensors as compared to GA or PCD alone. Different simulations have been provided to validate the performance of the designed algorithms in diversified scenarios.

An optimization method for defects reduction in fiber laser keyhole welding

Science.gov (United States)

Ai, Yuewei; Jiang, Ping; Shao, Xinyu; Wang, Chunming; Li, Peigen; Mi, Gaoyang; Liu, Yang; Liu, Wei

2016-01-01

Laser welding has been widely used in automotive, power, chemical, nuclear and aerospace industries. The quality of welded joints is closely related to the existing defects which are primarily determined by the welding process parameters. This paper proposes a defects optimization method that takes the formation mechanism of welding defects and weld geometric features into consideration. The analysis of welding defects formation mechanism aims to investigate the relationship between welding defects and process parameters, and weld features are considered to identify the optimal process parameters for the desired welded joints with minimum defects. The improved back-propagation neural network possessing good modeling for nonlinear problems is adopted to establish the mathematical model and the obtained model is solved by genetic algorithm. The proposed method is validated by macroweld profile, microstructure and microhardness in the confirmation tests. The results show that the proposed method is effective at reducing welding defects and obtaining high-quality joints for fiber laser keyhole welding in practical production.

[Elucidation of key genes in sex determination in genetics teaching].

Science.gov (United States)

Li, Meng; He, Zhumei

2014-06-01

Sex is an important and complex feature of organisms, which is controlled by the genetic and environmental factors. The genetic factors, i.e., genes, are vital in sex determination. However, not all the related genes play the same roles, and some key genes play a vital role in the sex determination and differentiation. With the development of the modern genetics, a great progress on the key genes has been made in sex determination. In this review, we summarize the mechanism of sex determination and the strategy of how to study the key genes in sex determination. It will help us to understand the mechanism of sex determination better in the teaching of genetics.

Genetics Home Reference: abdominal wall defect

Science.gov (United States)

... are two main types of abdominal wall defects: omphalocele and gastroschisis . Omphalocele is an opening in the center of the ... covering the exposed organs in gastroschisis. Fetuses with omphalocele may grow slowly before birth (intrauterine growth retardation) ...

What Are Congenital Heart Defects?

Science.gov (United States)

... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

Weak Defect Identification for Centrifugal Compressor Blade Crack Based on Pressure Sensors and Genetic Algorithm.

Science.gov (United States)

Li, Hongkun; He, Changbo; Malekian, Reza; Li, Zhixiong

2018-04-19

pulsation signal. Genetic algorithm (GA) is used to obtain optimal parameters for this SR system to improve its feature enhancement performance. The analysis result of experimental signal shows the validity of the proposed method for the enhancement and identification of weak defect characteristic. In the end, strain test is carried out to further verify the accuracy and reliability of the analysis result obtained by pressure pulsation signal.

The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA

International Nuclear Information System (INIS)

Venema, J.; Mullenders, L.H.; Natarajan, A.T.; van Zeeland, A.A.; Mayne, L.V.

1990-01-01

Cells from patients with Cockayne syndrome (CS) are hypersensitive to UV-irradiation but have an apparently normal ability to remove pyrimidine dimers from the genome overall. We have measured the repair of pyrimidine dimers in defined DNA sequences in three normal and two CS cell strains. When compared to a nontranscribed locus, transcriptionally active genes were preferentially repaired in all three normal cell strains. There was no significant variation in levels of repair between various normal individuals or between two constitutively expressed genes, indicating that preferential repair may be a consistent feature of constitutively expressed genes in human cells. Neither CS strain, from independent complementation groups, was able to repair transcriptionally active DNA with a similar rate and to the same extent as normal cells, indicating that the genetic defect in CS lies in the pathway for repair of transcriptionally active DNA. These results have implications for understanding the pleiotropic clinical effects associated with disorders having defects in the repair of DNA damage. In particular, neurodegeneration appears to be associated with the loss of preferential repair of active genes and is not simply correlated with reduced levels of overall repair

Determining the internal quantum efficiency of shallow-implanted nitrogen-vacancy defects in bulk diamond

DEFF Research Database (Denmark)

Radko, Ilya; Boll, Mads; Israelsen, Niels Møller

2016-01-01

-implanted NV defects in a single-crystal bulk diamond. Using a spherical metallic mirror with a large radius of curvature compared to the optical spot size, we perform calibrated modifications of the local density of states around NV defects and observe the change of their total decay rate, which is further...... used for IQE quantification. We also show that at the excitation wavelength of 532 nm, photo-induced relaxation cannot be neglected even at moderate excitation powers well below the saturation level. For NV defects shallow implanted 4.5 ± 1 and 8 ± 2 nm below the diamond surface, we determine...

Determination of quantum defects from the poles of the Schwinger T matrix

International Nuclear Information System (INIS)

Snitchler, G.L.

1987-01-01

Quantum defects are determined for lithium, sodium, potassium, and beryllium by searching for the poles of the Schwinger T matrix along the negative real-energy axis. This method takes advantage of the fundamental ideas of QDT by using a Coulomb Green's function to factor out most of the energy dependence. For the alkali atoms, a single-channel calculation is performed using model potentials to include the effects of core polarization and correlation. Quantum defects accurate to 1% are easily obtained with small grids and small fixed-basis sets for an entire Rydberg series up to principal quantum number, n, as high as 60. A multichannel extension of this method is used to determined neutral-beryllium quantum defects for the 1 P 0 , 3 P 0 , and 3 S Rydberg series. The 1 P 0 and 3 P 0 calculations are performed in a two-channel approximation using 1s 2 2p static-exchange cores. The 3 S calculation includes a third channel with a 1s 2 3s core. Accurate quantum defects are obtained with 4 to 6 basis functions per channel. The energies are variational and the wave functions have the correct asymptotic form enforced by the Coulomb Green's function. Tentative results for Be I 1 P 0 and 3 P 0 resonances below the 1s 2 2p 2 P threshold are presented. This calculation which is performed in a three-channel approximation uses a complex multichannel Coulomb Green's function to search for poles in the fourth quadrant of the complex-energy plane

Determining the dimension of subsurface defects by active infrared thermography – experimental research

Directory of Open Access Journals (Sweden)

S. Grys

2018-03-01

Full Text Available This paper presents research into a method of processing thermal images aimed at detecting and characterizing material defects, or non-uniformities, of the internal structure of materials. Active thermography was chosen as the NDT method. Hidden defects were revealed by analysing the temperature field of the tested material's front surface which was externally excited with heating lamps. Background removal and image segmentation were applied to the last thermogram in the sequence recorded at the end of the heating phase. The paper focuses on the quality of determining lateral dimensions of subsurface flaws in a polymethylmethacrylate slab with bottom holes drilled to imitate flaws. The following accuracy-affecting factors were taken into account: defect depth, emissivity of the inspected surface as an input, user-set parameter for the IR camera, type of filtering used to eliminate the effect of non-uniformity when heating the object surface with an external source, and global and local thresholding as a segmentation method used for defect detection and sizing.

Nonhomologous recombination between defective poliovirus and coxsackievirus genomes suggests a new model of genetic plasticity for picornaviruses.

Science.gov (United States)

Holmblat, Barbara; Jégouic, Sophie; Muslin, Claire; Blondel, Bruno; Joffret, Marie-Line; Delpeyroux, Francis

2014-08-05

Most of the circulating vaccine-derived polioviruses (cVDPVs) implicated in poliomyelitis outbreaks in Madagascar have been shown to be recombinants between the type 2 poliovirus (PV) strain of the oral polio vaccine (Sabin 2) and another species C human enterovirus (HEV-C), such as type 17 coxsackie A virus (CA17) in particular. We studied intertypic genetic exchanges between PV and non-PV HEV-C by developing a recombination model, making it possible to rescue defective type 2 PV RNA genomes with a short deletion at the 3' end by the cotransfection of cells with defective or infectious CA17 RNAs. We isolated over 200 different PV/CA17 recombinants, using murine cells expressing the human PV receptor (PVR) and selecting viruses with PV capsids. We found some homologous (H) recombinants and, mostly, nonhomologous (NH) recombinants presenting duplications of parental sequences preferentially located in the regions encoding proteins 2A, 2B, and 3A. Short duplications appeared to be stable, whereas longer duplications were excised during passaging in cultured cells or after multiplication in PVR-transgenic mice, generating H recombinants with diverse sites of recombination. This suggests that NH recombination events may be a transient, intermediate step in the generation and selection of the fittest H recombinants. In addition to the classical copy-choice mechanism of recombination thought to generate mostly H recombinants, there may also be a modular mechanism of recombination, involving NH recombinant precursors, shaping the genomes of recombinant enteroviruses and other picornaviruses. Importance: The multiplication of circulating vaccine-derived polioviruses (cVDPVs) in poorly immunized human populations can render these viruses pathogenic, causing poliomyelitis outbreaks. Most cVDPVs are intertypic recombinants between a poliovirus (PV) strain and another human enterovirus, such as type 17 coxsackie A viruses (CA17). For further studies of the genetic exchanges

Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis

Directory of Open Access Journals (Sweden)

Nico Derichs

2013-03-01

Full Text Available Cystic fibrosis (CF is caused by genetic mutations that affect the cystic fibrosis transmembrane conductance regulator (CFTR protein. These mutations can impact the synthesis and transfer of the CFTR protein to the apical membrane of epithelial cells, as well as influencing the gating or conductance of chloride and bicarbonate ions through the channel. CFTR dysfunction results in ionic imbalance of epithelial secretions in several organ systems, such as the pancreas, gastrointestinal tract, liver and the respiratory system. Since discovery of the CFTR gene in 1989, research has focussed on targeting the underlying genetic defect to identify a disease-modifying treatment for CF. Investigated management strategies have included gene therapy and the development of small molecules that target CFTR mutations, known as CFTR modulators. CFTR modulators are typically identified by high-throughput screening assays, followed by preclinical validation using cell culture systems. Recently, one such modulator, the CFTR potentiator ivacaftor, was approved as an oral therapy for CF patients with the G551D-CFTR mutation. The clinical development of ivacaftor not only represents a breakthrough in CF care but also serves as a noteworthy example of personalised medicine.

Determination of genetic diversity among some almond accessions

Directory of Open Access Journals (Sweden)

Pinar Hasan

2015-01-01

Full Text Available More recently the use of different molecular markers in fruit species to determine particularly genetic diversity, genetic relationships and cultivar identification has been gained more importance. In the study, 13 randomly amplified polimorfic DNA (RAPD and 4 inter-simple sequence repeat (ISSR markers were used to evaluate genetic relationships among 95 almong accessions (26 foreign cultivars and 69 national cultivars and selections. The all plant material found in Almond Germplasm Repository in Gaziantep, Turkey. Both RAPD and ISSR markers distinguished the almond cultivars and selections in various levels. 17 RAPD and ISSR markers yielded a total of 73 scorable bands, which 51 are polymorphic. The two marker system exhibited variation with regard to average band sizes and polymorphism ratio. The average polymorphism was higher in ISSR (88% compared to RAPD (74%. RAPD and ISSR marker systems were found to be useful for determining genetic diversity among almong genotypes and cultivars. Combining of two dendrograms obtained through these markers show different clustering of 96 almond specimens without geographical isolation. These results supported that almonds in Turkey indicated considerable genetic diversity.

Genetic Variant in Flavin-Containing Monooxygenase 3 Alters Lipid Metabolism in Laying Hens in a Diet-Specific Manner

OpenAIRE

Wang, Jing; Long, Cheng; Zhang, Haijun; Zhang, Yanan; Wang, Hao; Yue, Hongyuan; Wang, Xiaocui; Wu, Shugeng; Qi, Guanghai

2016-01-01

Genetic variant T329S in flavin-containing monooxygenase 3 (FMO3) impairs trimethylamine (TMA) metabolism in birds. The TMA metabolism that under complex genetic and dietary regulation, closely linked to cardiovascular disease risk. We determined whether the genetic defects in TMA metabolism may change other metabolic traits in birds, determined whether the genetic effects depend on diets, and to identify genes or gene pathways that underlie the metabolic alteration induced by genetic and die...

An ultrastructural and immunocytochemical study of a rare genetic sperm tail defect that causes infertility in humans.

Science.gov (United States)

Baccetti, Baccio; Bruni, Emanuele; Gambera, Laura; Moretti, Elena; Piomboni, Paola

2004-08-01

To characterize and describe the ontogenesis of a rare flagellar defect affecting the whole sperm population of a sterile man. Case report. Regional referral center for male infertility in Siena, Italy. A 28-year-old man with severe asthenozoospermia. Physical and hormonal assays, semen analysis, and testicular biopsy. Semen samples and testicular biopsies were analyzed by light and transmission electron microscopy; immunocytochemical study with anti-beta-tubulin and anti-AKAP 82 antibodies was performed to detect the presence and distribution of proteins. Ultrastructural analysis of ejaculated spermatozoa and testicular biopsy revealed absence of the fibrous sheath in the principal-piece region of the tail. Fibrous sheath-like structures were observed in cytoplasmic residues and residual bodies released by spermatids in the seminiferous epithelium. Other anomalies observed were supplementary axonemes and mitochondrial helix elongation. These features were confirmed by immunocytochemical staining. This rare sperm tail defect, characterized by absence of the fibrous sheath, presence of supplementary axonemes, and an abnormally elongated midpiece, originates in the seminiferous tubules during spermiogenesis, as detected in testicular biopsy sections. These defects occur in the whole sperm population, and therefore a genetic origin could be suggested.

Public health approach to birth defects: the Argentine experience.

Science.gov (United States)

Bidondo, María Paz; Groisman, Boris; Barbero, Pablo; Liascovich, Rosa

2015-04-01

Birth defects are a global problem, but their impact is particularly severe in low and middle income countries, where the conditions for prevention, treatment, and rehabilitation are more critical. The epidemiological transition in the infant mortality causes, and the concern of the community and the mass media about the teratogenic risk of environmental pollutants, has made health authorities aware of the importance of birth defects in Argentina. The objective of this paper is to outline those actions specifically taken in Argentina aimed at the prevention of birth defects at a national level. Firstly, we focus on birth defects in Argentina on a general basis, and then we present different laws and actions taken in terms of surveillance and public health programs, primary, secondary, and tertiary prevention. Finally, we present the Teratology Information Service "Fetal Health Line", and the genetic services organization and health professionals training by the National Center of Medical Genetics and the National Program of Genetics Network. In conclusion, in the country, several programs focus on different approaches to the problem, and the challenge is to coordinate the teamwork between them. Finally, we list tips to address birth defects from the public health perspective.

Ultrasonic delay measurements for the determination of the size of quasi-natural defects

International Nuclear Information System (INIS)

Proegler, H.

1978-01-01

Criteria in the form of delay measurements and phase assessments on ultrasonic pulses were worked out for a series of the most different reflection positions of the artificial, quasi-natural and natural kind which in many cases enable an differentiation of defects and the determination of the defect size. Even though it was not possible to completely clarify all effects occuring, such as reflection positions with undefined pulse orientations, the results sofar are still a contribution to the improvement of the stating ability of ultrasonic testing. (orig./RW) [de

Genetic variability of indigenous cowpea genotypes as determined ...

African Journals Online (AJOL)

Bayesian statistics coupled with the Markov chain Monte Carlo technique was applied to determine population structure, while the genetic variability was established by analysis of molecular variance. UPGMA analysis allowed the separation of the genotypes into three groups, but no relationship between the genetic and ...

A haploid genetic screen identifies the G1/S regulatory machinery as a determinant of Wee1 inhibitor sensitivity.

Science.gov (United States)

Heijink, Anne Margriet; Blomen, Vincent A; Bisteau, Xavier; Degener, Fabian; Matsushita, Felipe Yu; Kaldis, Philipp; Foijer, Floris; van Vugt, Marcel A T M

2015-12-08

The Wee1 cell cycle checkpoint kinase prevents premature mitotic entry by inhibiting cyclin-dependent kinases. Chemical inhibitors of Wee1 are currently being tested clinically as targeted anticancer drugs. Wee1 inhibition is thought to be preferentially cytotoxic in p53-defective cancer cells. However, TP53 mutant cancers do not respond consistently to Wee1 inhibitor treatment, indicating the existence of genetic determinants of Wee1 inhibitor sensitivity other than TP53 status. To optimally facilitate patient selection for Wee1 inhibition and uncover potential resistance mechanisms, identification of these currently unknown genes is necessary. The aim of this study was therefore to identify gene mutations that determine Wee1 inhibitor sensitivity. We performed a genome-wide unbiased functional genetic screen in TP53 mutant near-haploid KBM-7 cells using gene-trap insertional mutagenesis. Insertion site mapping of cells that survived long-term Wee1 inhibition revealed enrichment of G1/S regulatory genes, including SKP2, CUL1, and CDK2. Stable depletion of SKP2, CUL1, or CDK2 or chemical Cdk2 inhibition rescued the γ-H2AX induction and abrogation of G2 phase as induced by Wee1 inhibition in breast and ovarian cancer cell lines. Remarkably, live cell imaging showed that depletion of SKP2, CUL1, or CDK2 did not rescue the Wee1 inhibition-induced karyokinesis and cytokinesis defects. These data indicate that the activity of the DNA replication machinery, beyond TP53 mutation status, determines Wee1 inhibitor sensitivity, and could serve as a selection criterion for Wee1-inhibitor eligible patients. Conversely, loss of the identified S-phase genes could serve as a mechanism of acquired resistance, which goes along with development of severe genomic instability.

Determinism and mass-media portrayals of genetics.

Science.gov (United States)

Condit, C M; Ofulue, N; Sheedy, K M

1998-01-01

Scholars have expressed concern that the introduction of substantial coverage of "medical genetics" in the mass media during the past 2 decades represents an increase in biological determinism in public discourse. To test this contention, we analyzed the contents of a randomly selected, structured sample of American public newspapers (n=250) and magazines (n=722) published during 1919-95. Three coders, using three measures, all with intercoder reliability >85%, were employed. Results indicate that the introduction of the discourse of medical genetics is correlated with both a statistically significant decrease in the degree to which articles attribute human characteristics to genetic causes (P<.001) and a statistically significant increase in the differentiation of attributions to genetic and other causes among various conditions or outcomes (P<. 016). There has been no statistically significant change in the relative proportions of physical phenomena attributed to genetic causes, but there has been a statistically significant decrease in the number of articles assigning genetic causes to mental (P<.002) and behavioral (P<.000) characteristics. These results suggest that the current discourse of medical genetics is not accurately described as more biologically deterministic than its antecedents. PMID:9529342

Iridoschisis: high frequency ultrasound imaging. Evidence for a genetic defect?

Science.gov (United States)

Danias, J; Aslanides, I M; Eichenbaum, J W; Silverman, R H; Reinstein, D Z; Coleman, D J

1996-01-01

AIMS: To elucidate changes in the anatomy of the anterior chamber associated with iridoschisis, a rare form of iris atrophy, and their potential contribution to angle closure glaucoma. METHODS: Both eyes of a 71-year-old woman with bilateral iridoschisis and fibrous dysplasia and her asymptomatic 50-year-old daughter were scanned with a very high frequency (50 MHz) ultrasound system. RESULTS: The symptomatic patient exhibited diffuse changes in the iris stoma with an intact posterior iris pigmented layer in both eyes. These changes were clinically compatible with the lack of iris transillumination defects. Additionally, iris bowing with a resultant narrowing of the angle occurred. The asymptomatic daughter showed discrete, but less severe iris stromal changes. CONCLUSION: This is the first detailed study of high frequency ultrasonic imaging of the iris in iridoschisis. The observed structural changes suggest angle narrowing by forward bowing of the anterior iris stroma may be a mechanism of IOP elevation in this condition. The ultrasonic detection of iris changes in the asymptomatic daughter of the symptomatic patient and the association of iridoschisis with fibrous dysplasia suggest a possible genetic component in the pathogenesis of this condition. Images PMID:9059271

[Genetic diagnostics of cancer diseases].

Science.gov (United States)

Cobilanschi, Joana

2013-11-27

Cancer is caused by genetic alterations, but only 10% of the cancer diseases are inherited. The probability for an individual or a family of having inherited cancer, individual consequences of the respective results of genetic testing, as well as its costs and reimbursement by the health insurance must be addressed by expert genetic counseling which at-risk requires special expertise. Identification of a germline mutation which may predispose to a variety of different cancer types allows determination of an individual's specific life time risk in symptomatic as well as in a-symptomatic family members. Identification of the underlying defective gene in heritable cancer disorders also enables optimized preventive and novel therapeutic approaches specifically targeting the underlying molecular pathomechanisms.

Considering genetic characteristics in German Holstein breeding programs.

Science.gov (United States)

Segelke, D; Täubert, H; Reinhardt, F; Thaller, G

2016-01-01

Recently, several research groups have demonstrated that several haplotypes may cause embryonic loss in the homozygous state. Up to now, carriers of genetic disorders were often excluded from mating, resulting in a decrease of genetic gain and a reduced number of sires available for the breeding program. Ongoing research is very likely to identify additional genetic defects causing embryonic loss and calf mortality by genotyping a large proportion of the female cattle population and sequencing key ancestors. Hence, a clear demand is present to develop a method combining selection against recessive defects (e.g., Holstein haplotypes HH1-HH5) with selection for economically beneficial traits (e.g., polled) for mating decisions. Our proposed method is a genetic index that accounts for the allele frequencies in the population and the economic value of the genetic characteristic without excluding carriers from breeding schemes. Fertility phenotypes from routine genetic evaluations were used to determine the economic value per embryo lost. Previous research has shown that embryo loss caused by HH1 and HH2 occurs later than the loss for HH3, HH4, and HH5. Therefore, an economic value of € 97 was used against HH1 and HH2 and € 70 against HH3, HH4, and HH5. For polled, € 7 per polled calf was considered. Minor allele frequencies of the defects ranged between 0.8 and 3.3%. The polled allele has a frequency of 4.1% in the German Holstein population. A genomic breeding program was simulated to study the effect of changing the selection criteria from assortative mating based on breeding values to selecting the females using the genetic index. Selection for a genetic index on the female path is a useful method to control the allele frequencies by reducing undesirable alleles and simultaneously increasing economical beneficial characteristics maintaining most of the genetic gain in production and functional traits. Additionally, we applied the genetic index to real data and

Systematic Analysis of the DNA Damage Response Network in Telomere Defective Budding Yeast

Directory of Open Access Journals (Sweden)

Eva-Maria Holstein

2017-07-01

Full Text Available Functional telomeres are critically important to eukaryotic genetic stability. Scores of proteins and pathways are known to affect telomere function. Here, we report a series of related genome-wide genetic interaction screens performed on budding yeast cells with acute or chronic telomere defects. Genetic interactions were examined in cells defective in Cdc13 and Stn1, affecting two components of CST, a single stranded DNA (ssDNA binding complex that binds telomeric DNA. For comparison, genetic interactions were also examined in cells with defects in Rfa3, affecting the major ssDNA binding protein, RPA, which has overlapping functions with CST at telomeres. In more complex experiments, genetic interactions were measured in cells lacking EXO1 or RAD9, affecting different aspects of the DNA damage response, and containing a cdc13-1 induced telomere defect. Comparing fitness profiles across these data sets helps build a picture of the specific responses to different types of dysfunctional telomeres. The experiments show that each context reveals different genetic interactions, consistent with the idea that each genetic defect causes distinct molecular defects. To help others engage with the large volumes of data, the data are made available via two interactive web-based tools: Profilyzer and DIXY. One particularly striking genetic interaction observed was that the chk1∆ mutation improved fitness of cdc13-1 exo1∆ cells more than other checkpoint mutations (ddc1∆, rad9∆, rad17∆, and rad24∆, whereas, in cdc13-1 cells, the effects of all checkpoint mutations were similar. We show that this can be explained by Chk1 stimulating resection—a new function for Chk1 in the eukaryotic DNA damage response network.

Weight Stigma Reduction and Genetic Determinism.

Science.gov (United States)

Hilbert, Anja

2016-01-01

One major approach to weight stigma reduction consists of decreasing beliefs about the personal controllability of-and responsibility for-obesity by educating about its biogenetic causes. Evidence on the efficacy of this approach is mixed, and it remains unclear whether this would create a deterministic view, potentially leading to detrimental side-effects. Two independent studies from Germany using randomized designs with delayed-intervention control groups served to (1) develop and pilot a brief, interactive stigma reduction intervention to educate N = 128 university students on gene × environment interactions in the etiology of obesity; and to (2) evaluate this intervention in the general population (N = 128) and determine mechanisms of change. The results showed (1) decreased weight stigma and controllability beliefs two weeks post-intervention in a student sample; and (2) decreased internal attributions and increased genetic attributions, knowledge, and deterministic beliefs four weeks post-intervention in a population sample. Lower weight stigma was longitudinally predicted by a decrease in controllability beliefs and an increase in the belief in genetic determinism, especially in women. The results underline the usefulness of a brief, interactive intervention promoting an interactionist view of obesity to reduce weight stigma, at least in the short term, lending support to the mechanisms of change derived from attribution theory. The increase in genetic determinism that occurred despite the intervention's gene × environment focus had no detrimental side-effect on weight stigma, but instead contributed to its reduction. Further research is warranted on the effects of how biogenetic causal information influences weight management behavior of individuals with obesity.

Weight Stigma Reduction and Genetic Determinism.

Directory of Open Access Journals (Sweden)

Anja Hilbert

Full Text Available One major approach to weight stigma reduction consists of decreasing beliefs about the personal controllability of-and responsibility for-obesity by educating about its biogenetic causes. Evidence on the efficacy of this approach is mixed, and it remains unclear whether this would create a deterministic view, potentially leading to detrimental side-effects. Two independent studies from Germany using randomized designs with delayed-intervention control groups served to (1 develop and pilot a brief, interactive stigma reduction intervention to educate N = 128 university students on gene × environment interactions in the etiology of obesity; and to (2 evaluate this intervention in the general population (N = 128 and determine mechanisms of change. The results showed (1 decreased weight stigma and controllability beliefs two weeks post-intervention in a student sample; and (2 decreased internal attributions and increased genetic attributions, knowledge, and deterministic beliefs four weeks post-intervention in a population sample. Lower weight stigma was longitudinally predicted by a decrease in controllability beliefs and an increase in the belief in genetic determinism, especially in women. The results underline the usefulness of a brief, interactive intervention promoting an interactionist view of obesity to reduce weight stigma, at least in the short term, lending support to the mechanisms of change derived from attribution theory. The increase in genetic determinism that occurred despite the intervention's gene × environment focus had no detrimental side-effect on weight stigma, but instead contributed to its reduction. Further research is warranted on the effects of how biogenetic causal information influences weight management behavior of individuals with obesity.

Utilization of shear stress for determination of activation energy of the defects created by neutron irradiation

International Nuclear Information System (INIS)

Gonzalez, Hector C.; Miralles, Monica

1996-01-01

This paper describes an experimental technique used for the determination thermodynamical parameters such as activation energy using the thermal annealing of increments of Critical resolved Shear Stress of the defects created by neutron irradiation at 77 K. The doses chosen for this work was 3.1 x 10 16 n/cm 2 since the defects are stable to plastic deformation and the cascades of atomic displacements do not overlap. Specimens without any prior deformation were used allowing then the single addition of the initial stress to that due to the created defects. (author)

The acceptability among young Hindus and Muslims of actively ending the lives of newborns with genetic defects.

Science.gov (United States)

Kamble, Shanmukh; Ahmed, Ramadan; Sorum, Paul Clay; Mullet, Etienne

2014-03-01

To explore the views in non-Western cultures about ending the lives of damaged newborns. 254 university students from India and 150 from Kuwait rated the acceptability of ending the lives of newborns with genetic defects in 54 vignettes consisting of all combinations of four factors: gestational age (term or 7 months); severity of genetic defect (trisomy 21 alone, trisomy 21 with serious morphological abnormalities or trisomy 13 with impending death); the parents' attitude about prolonging care (unknown, in favour or opposed); and the procedure used (withholding treatment, withdrawing it or injecting a lethal substance). Four clusters were identified by cluster analysis and subjected to analysis of variance. Cluster I, labelled 'Never Acceptable', included 4% of the Indians and 59% of the Kuwaitis. Cluster II, 'No Firm Opinion', had little variation in rating from one scenario to the next; it included 38% of the Indians and 18% of the Kuwaitis. In Cluster III, 'Parents' Attitude+Severity+Procedure', all three factors affected the ratings; it was composed of 18% of the Indians and 16% of the Kuwaitis. Cluster IV was called 'Severity+Parents' Attitude' because these had the strongest impact; it was composed of 40% of the Indians and 7% of the Kuwaitis. In accordance with the teachings of Islam versus Hinduism, Kuwaiti students were more likely to oppose ending a newborn's life under all conditions, Indian students more likely to favour it and to judge its acceptability in light of the different circumstances.

The Congenital Heart Disease Genetic Network Study: Cohort description.

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Thanh T Hoang

Full Text Available The Pediatric Cardiac Genomics Consortium (PCGC designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome. Cases with CHDs were recruited through ten sites, 2010-2014. Information on cases (N = 9,727 and their parents was collected through interviews and medical record abstraction. Four case characteristics, eleven parental characteristics, and thirteen parent-reported neurodevelopment outcomes were summarized using counts and frequencies and compared across CHD types and subtypes. Eleven percent of cases had a genetic diagnosis. Among cases without a genetic diagnosis, the majority had conotruncal heart defects (40% or left ventricular outflow tract obstruction (21%. Across CHD types, there were significant differences (p<0.05 in the distribution of all four case characteristics (e.g., sex, four parental characteristics (e.g., maternal pregestational diabetes, and five neurodevelopmental outcomes (e.g., learning disabilities. Several characteristics (e.g., sex were also significantly different across CHD subtypes. The PCGC cohort is one of the largest CHD cohorts available for the study of genetic determinants of risk and outcomes. The majority of cases do not have a genetic diagnosis. This description of the PCGC cohort, including differences across CHD types and subtypes, provides a reference work for investigators who are interested in collaborating with or using publically available resources from the PCGC.

Growth Defects in the Dorsal Pallium after Genetically Targeted Ablation of Principal Preplate Neurons and Neuroblasts: A Morphometric Analysis

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Robin Fisher

2010-09-01

Full Text Available The present study delineates the large-scale, organic responses of growth in the dorsal pallium to targeted genetic ablations of the principal PP (preplate neurons of the neocortex. Ganciclovir treatment during prenatal development [from E11 (embryonic age 11 to E13] of mice selectively killed cells with shared S-phase vulnerability and targeted expression of a GPT [golli promoter transgene; GPT linked to HSV-TK (herpes simplex virus-thymidine kinase, τ-eGFP and lacZ reporters] localized in PP neurons and their intermediate progenitor neuroblasts. The volume, area and thickness of the pallium were measured in an E12-P4 (postnatal age 4 longitudinal study with comparisons between ablated (HSV-TK+/0 and control (HSV-TK0/0 littermates. The extent of ablations was also systematically varied, and the effect on physical growth was assessed in an E18 cross-sectional study. The morphological evidence obtained in the present study supports the conclusion that genetically targeted ablations delay the settlement of the principal PP neurons of the dorsal pallium. This leads to progressive and substantial reductions of growth, despite compensatory responses that rapidly replace the ablated cells. These growth defects originate from inductive cellular interactions in the proliferative matrix of the ventricular zone of the pallium, but are amplified by subsequent morphogenic and trophic cellular interactions. The defects persist during the course of prenatal and postnatal development to demonstrate a constrained dose-response relationship with the extent of specific killing of GPT neurons. The defects propagate simultaneously in both the horizontal and vertical cytoarchitectural dimensions of the developing pallium, an outcome that produces a localized shortfall of volume in the telencephalic vesicles.

Genetic determinants of hepatic steatosis in man

Science.gov (United States)

Hooper, Amanda J.; Adams, Leon A.; Burnett, John R.

2011-01-01

Hepatic steatosis is one of the most common liver disorders in the general population. The main cause of hepatic steatosis is nonalcoholic fatty liver disease (NAFLD), representing the hepatic component of the metabolic syndrome, which is characterized by type 2 diabetes, obesity, and dyslipidemia. Insulin resistance and excess adiposity are considered to play key roles in the pathogenesis of NAFLD. Although the risk factors for NAFLD are well established, the genetic basis of hepatic steatosis is largely unknown. Here we review recent progress on genomic variants and their association with hepatic steatosis and discuss the potential impact of these genetic studies on clinical practice. Identifying the genetic determinants of hepatic steatosis will lead to a better understanding of the pathogenesis and progression of NAFLD. PMID:21245030

[Application of Multiple Genetic Markers in a Case of Determination of Half Sibling].

Science.gov (United States)

Yang, Xue; Shi, Mei-sen; Yuan, Li; Lu, Di

2016-02-01

A case of half sibling was determined with multiple genetic markers, which could be potentially applied for determination of half sibling relationship from same father. Half sibling relationship was detected by 39 autosomal STR genetic markers, 23 Y-chromosomal STR genetic markers and 12 X -chromosomal STR genetic markers among ZHAO -1, ZHAO -2, ZHAO -3, ZHAO -4, and ZHAO-5. According to autosomal STR, Y-STR and X-STR genotyping results, it was determined that ZHAO-4 (alleged half sibling) was unrelated with ZHAO-1 and ZHAO-2; however, ZHAO-3 (alleged half sibling), ZHAO-5 (alleged half sibling) shared same genetic profile with ZHAO-1, and ZHAO-2 from same father. It is reliable to use multiple genetic markers and family gene reconstruction to determine half sibling relationship from same father, but it is difficult to determination by calculating half sibling index with ITO and discriminant functions.

Positron annihilation spectroscopy for the determination of thickness and defect profile in thin semiconductor layers

Science.gov (United States)

Zubiaga, A.; García, J. A.; Plazaola, F.; Tuomisto, F.; Zúñiga-Pérez, J.; Muñoz-Sanjosé, V.

2007-05-01

We present a method, based on positron annihilation spectroscopy, to obtain information on the defect depth profile of layers grown over high-quality substrates. We have applied the method to the case of ZnO layers grown on sapphire, but the method can be very easily generalized to other heterostructures (homostructures) where the positron mean diffusion length is small enough. Applying the method to the ratio of W and S parameters obtained from Doppler broadening measurements, W/S plots, it is possible to determine the thickness of the layer and the defect profile in the layer, when mainly one defect trapping positron is contributing to positron trapping at the measurement temperature. Indeed, the quality of such characterization is very important for potential technological applications of the layer.

The molecular basis of hereditary enamel defects in humans.

Science.gov (United States)

Wright, J T; Carrion, I A; Morris, C

2015-01-01

The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. © International & American Associations for

The Molecular Basis of Hereditary Enamel Defects in Humans

Science.gov (United States)

Carrion, I.A.; Morris, C.

2015-01-01

The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. PMID:25389004

Congenital heart defects in Williams syndrome.

Science.gov (United States)

Yuan, Shi-Min

2017-01-01

Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

Genetic Essentialism: On the Deceptive Determinism of DNA

OpenAIRE

Dar-Nimrod, Ilan; Heine, Steven J.

2011-01-01

This paper introduces the notion of genetic essentialist biases: cognitive biases associated with essentialist thinking that are elicited when people encounter arguments that genes are relevant for a behavior, condition, or social group. Learning about genetic attributions for various human conditions leads to a particular set of thoughts regarding those conditions: they are more likely to be perceived as a) immutable and determined, b) having a specific etiology, c) homogeneous and discrete,...

Syndromes and Disorders Associated with Omphalocele (III: Single Gene Disorders, Neural Tube Defects, Diaphragmatic Defects and Others

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2007-06-01

Full Text Available Omphalocele can be associated with single gene disorders, neural tube defects, diaphragmatic defects, fetal valproate syndrome, and syndromes of unknown etiology. This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick–Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen–Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall–Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai–Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello–Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosis- mental retardation syndrome of Lin and Gettig. Perinatal identification of omphalocele should alert one to the possibility of omphalocele-related disorders and familial inheritance and prompt a thorough genetic counseling for these disorders.

The fractal character of radiation defects aggregation in crystals

International Nuclear Information System (INIS)

Akylbekov, A.; Akimbekov, E.; Baktybekov, K.; Vasil'eva, I.

2002-01-01

In processes of self-organization, which characterize open systems, the source of ordering is a non-equilibrium. One of the samples of ordering system is radiation-stimulated aggregation of defects in solids. In real work the analysis of criterions of ordering defects structures in solid, which is continuously irradiate at low temperature is presented. The method of cellular automata used in simulation of irradiation. It allowed us to imitate processes of defects formation and recombination. The simulation realized on the surfaces up to 1000x1000 units with initial concentration of defects C n (the power of dose) 0.1-1 %. The number of iterations N (duration of irradiation) mounted to 10 6 cycles. The single centers, which are the sources of formation aggregates, survive in the result of probabilistic nature of formation and recombination genetic pairs of defects and with strictly fixed radius of recombination (the minimum inter anionic distance). For determination the character of same type defects distribution the potential of their interaction depending of defects type and reciprocal distance is calculated. For more detailed study of processes, proceeding in cells with certain sizes of aggregates, the time dependence of potential interaction is constructed. It is shown, that on primary stage the potential is negative, then it increase and approach the saturation in positive area. The minimum of interaction potential corresponds to state of physical chaos in system. Its increasing occurs with formation of same type defects aggregates. Further transition to saturation and 'undulating' character of curves explains by formation and destruction aggregates. The data indicated that - these processes occur simultaneously in cells with different sizes. It allows us to assume that the radiation defects aggregation have a fractal nature

Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice.

Science.gov (United States)

Oliveira, Priscila H A; Souza, Beatriz S; Pacheco, Eimi N; Menegazzo, Michele S; Corrêa, Ivan S; Zen, Paulo R G; Rosa, Rafael F M; Cesa, Claudia C; Pellanda, Lucia C; Vilela, Manuel A P

2018-01-01

Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Science.gov (United States)

Ishida, M; Cullup, T; Boustred, C; James, C; Docker, J; English, C; Lench, N; Copp, A J; Moore, G E; Greene, N D E; Stanier, P

2018-04-01

Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap. Collectively, NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite having a similar frequency to spina bifida and being the most common type of NTD observed in mouse models, has had more limited inclusion in genetic studies. A genetic influence is strongly implicated in determining risk of NTDs and a molecular diagnosis is of fundamental importance to families both in terms of understanding the origin of the condition and for managing future pregnancies. Here we used a custom panel of 191 NTD candidate genes to screen 90 patients with cranial NTDs (n = 85 anencephaly and n = 5 craniorachischisis) with a targeted exome sequencing platform. After filtering and comparing to our in-house control exome database (N = 509), we identified 397 rare variants (minor allele frequency, MAF < 1%), 21 of which were previously unreported and predicted damaging. This included 1 frameshift (PDGFRA), 2 stop-gained (MAT1A; NOS2) and 18 missense variations. Together with evidence for oligogenic inheritance, this study provides new information on the possible genetic causation of anencephaly. © 2017 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Reproduction, Smell and Neurodevelopmental disorders: Genetic defects in different hypogonadotropic hypogonadal syndromes.

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Hernan G VALDES-SOCIN

2014-07-01

Full Text Available The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH secreting neurons that modulate the activity of the reproductive axis across life. Congenital hypogonadotropic hypogonadism (HH is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate hypothalamic GnRH axis activation, or a failure of pituitary gonadotropin secretion/effects. In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing number of mutations in different genes are responsible for congenital HH. Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations (Kallmann syndrome and idiopathic hypogonadotropic hypogonadism (IHH with normal smell (normosmic IHH. Kallmann syndrome (KS is a heterogeneous disorder affecting 1 in 5000 males, with a 3-5 fold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF and WDR11 genes that are related to defects in neuronal migration. These reproductive and olfactory deficits include a variable non reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities and/or renal agenesis. Interestingly, defects in PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, LEP/LEPR, HESX1, FSHB and LHB are only present in patients with normosmic IHH. In this paper, we summarize the reproductive, neurodevelopmental and genetic aspects of HH in human pathology.

Primary Ovarian Insufficiency: X chromosome defects and autoimmunity.

Science.gov (United States)

Persani, Luca; Rossetti, Raffaella; Cacciatore, Chiara; Bonomi, Marco

2009-08-01

Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche or premature depletion of ovarian follicles before the age of 40 years. However, in several instances the distinction between definitive or intermittent POF may be difficult on clinical bases, therefore the more appropriate term Primary Ovarian Insufficiency (POI) has been recently proposed and will be used in this review. POI is a heterogeneous disorder affecting approximately 1% of women disappearance of menstrual cycles (secondary amenorrhea) associated with a defective folliculogenesis. POI is generally characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (LH and FSH) (hypergonadotropic amenorrhea). Heterogeneity of POI is reflected by the variety of possible causes, including autoimmunity, toxics, drugs, as well as genetic defects. Several data indicate that POI has a strong genetic component. In this manuscript we discuss the X chromosome abnormalities that are associated with POI.

Young Adults' Belief in Genetic Determinism, and Knowledge and Attitudes towards Modern Genetics and Genomics: The PUGGS Questionnaire.

Science.gov (United States)

Carver, Rebecca Bruu; Castéra, Jérémy; Gericke, Niklas; Evangelista, Neima Alice Menezes; El-Hani, Charbel N

2017-01-01

In this paper we present the development and validation a comprehensive questionnaire to assess college students' knowledge about modern genetics and genomics, their belief in genetic determinism, and their attitudes towards applications of modern genetics and genomic-based technologies. Written in everyday language with minimal jargon, the Public Understanding and Attitudes towards Genetics and Genomics (PUGGS) questionnaire is intended for use in research on science education and public understanding of science, as a means to investigate relationships between knowledge, determinism and attitudes about modern genetics, which are to date little understood. We developed a set of core ideas and initial items from reviewing the scientific literature on genetics and previous studies on public and student knowledge and attitudes about genetics. Seventeen international experts from different fields (e.g., genetics, education, philosophy of science) reviewed the initial items and their feedback was used to revise the questionnaire. We validated the questionnaire in two pilot tests with samples of university freshmen students. The final questionnaire contains 45 items, including both multiple choice and Likert scale response formats. Cronbach alpha showed good reliability for each section of the questionnaire. In conclusion, the PUGGS questionnaire is a reliable tool for investigating public understanding and attitudes towards modern genetics and genomic-based technologies.

Young Adults’ Belief in Genetic Determinism, and Knowledge and Attitudes towards Modern Genetics and Genomics: The PUGGS Questionnaire

Science.gov (United States)

Carver, Rebecca Bruu; Castéra, Jérémy; Gericke, Niklas; Evangelista, Neima Alice Menezes

2017-01-01

In this paper we present the development and validation a comprehensive questionnaire to assess college students’ knowledge about modern genetics and genomics, their belief in genetic determinism, and their attitudes towards applications of modern genetics and genomic-based technologies. Written in everyday language with minimal jargon, the Public Understanding and Attitudes towards Genetics and Genomics (PUGGS) questionnaire is intended for use in research on science education and public understanding of science, as a means to investigate relationships between knowledge, determinism and attitudes about modern genetics, which are to date little understood. We developed a set of core ideas and initial items from reviewing the scientific literature on genetics and previous studies on public and student knowledge and attitudes about genetics. Seventeen international experts from different fields (e.g., genetics, education, philosophy of science) reviewed the initial items and their feedback was used to revise the questionnaire. We validated the questionnaire in two pilot tests with samples of university freshmen students. The final questionnaire contains 45 items, including both multiple choice and Likert scale response formats. Cronbach alpha showed good reliability for each section of the questionnaire. In conclusion, the PUGGS questionnaire is a reliable tool for investigating public understanding and attitudes towards modern genetics and genomic-based technologies. PMID:28114357

Birth Defects in the Newborn Population: Race and Ethnicity

Directory of Open Access Journals (Sweden)

Alexander C. Egbe

2015-06-01

Conclusion: This is a comprehensive description of racial differences in the risk of birth defects in the United States. Observed racial differences in the risk of birth defects may be related to genetic susceptibilities, to cultural or social differences that could modify exposures, or to the many potential combinations between susceptibilities and exposures.

The Prevalence of Enamel Defects in Students 7-12 Years of Age in Isfahan

Directory of Open Access Journals (Sweden)

Mahmodian J

2000-05-01

Full Text Available Dental enamel is the end product of amelogenesis, which can be considered to take place in"nthree interrelated phases. When this complex sequence of cytological and physicochemica! events"ndisrupted by genetic or environmental factors, the function of the ameloblasts may be disrupted"npermanently or temporarily. The result shows qualitative and quantitative defects that may range from a"ncomplete absence of enamel or a slight discoloration. The aim of this study was to determine the"nprevalence of enamel defects by DDE index in a randomly selection group of 1637 students age 7-12"nyears old in Isfahan (0.2-0.3 PPMF". Enamel defects were present on one or more teeth in 27% of the"ncases. The most common affected tooth was the central maxillary and then first molar of maxilla. The"nmost common affected surfaces were buccal. Hypoplastic defects were found in first molar; however"npremolar and canine were affected by diffuse white lines opacity.

Genetic Testing: MedlinePlus Health Topic

Science.gov (United States)

... Your Family's Health (National Institutes of Health) - PDF Topic Image MedlinePlus Email Updates Get Genetic Testing updates ... testing and your cancer risk Karyotyping Related Health Topics Birth Defects Genetic Counseling Genetic Disorders Newborn Screening ...

Quo Vadis, Medical Genetics?

Science.gov (United States)

Czeizel, Andrew E.

The beginning of human genetics and its medical part: medical genetics was promising in the early decades of this century. Many genetic diseases and defects with Mendelian origin were identified and it helped families with significant genetic burden to limit their child number. Unfortunately this good start was shadowed by two tragic events. On the one hand, in the 1930s and early 1940s the German fascism brought about the dominance of an unscientific eugenics to mask vile political crimes. People with genetic diseases-defects were forced to sterilisation and several of them were killed. On the other hand, in the 1950s lysenkoism inhibitied the evolution of genetics in the Soviet Union and their satelite countries. Lysenko's doctrine declared genetics as a product of imperialism and a guilty science, therefore leading geneticists were ousted form their posts and some of them were executed or put in prison. Past decades genetics has resulted fantastic new results and achieved a leading position within the natural sciences. To my mind, however, the expected wider use of new eugenics indicates a new tragedy and this Cassandra's prediction is the topic of this presentation.

Molecular and Genetic Determinants of Glioma Cell Invasion

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Kenta Masui

2017-12-01

Full Text Available A diffusely invasive nature is a major obstacle in treating a malignant brain tumor, “diffuse glioma”, which prevents neurooncologists from surgically removing the tumor cells even in combination with chemotherapy and radiation. Recently updated classification of diffuse gliomas based on distinct genetic and epigenetic features has culminated in a multilayered diagnostic approach to combine histologic phenotypes and molecular genotypes in an integrated diagnosis. However, it is still a work in progress to decipher how the genetic aberrations contribute to the aggressive nature of gliomas including their highly invasive capacity. Here we depict a set of recent discoveries involving molecular genetic determinants of the infiltrating nature of glioma cells, especially focusing on genetic mutations in receptor tyrosine kinase pathways and metabolic reprogramming downstream of common cancer mutations. The specific biology of glioma cell invasion provides an opportunity to explore the genotype-phenotype correlation in cancer and develop novel glioma-specific therapeutic strategies for this devastating disease.

Genetic determinants of pathogenesis by feline infectious peritonitis virus.

Science.gov (United States)

Brown, Meredith A

2011-10-15

Feline infectious peritonitis (FIP) is a fatal, immune-augmented, and progressive viral disease of cats associated with feline coronavirus (FCoV). Viral genetic determinants specifically associated with FIPV pathogenesis have not yet been discovered. Viral gene signatures in the spike, non-structural protein 3c, and membrane of the coronavirus genome have been shown to often correlate with disease manifestation. An "in vivo mutation transition hypothesis" is widely accepted and postulates that de novo virus mutation occurs in vivo giving rise to virulence. The existence of "distinct circulating avirulent and virulent strains" is an alternative hypothesis of viral pathogenesis. It may be possible that viral dynamics from both hypotheses are at play in the occurrence of FIP. Epidemiologic data suggests that the genetic background of the cat contributes to the manifestation of FIP. Further studies exploring both viral and host genetic determinants of disease in FIP offer specific opportunities for the management of this disease. Copyright © 2011 Elsevier B.V. All rights reserved.

75 FR 8299 - Draft Environmental Impact Statement; Determination of Regulated Status of Alfalfa Genetically...

Science.gov (United States)

2010-02-24

...] Draft Environmental Impact Statement; Determination of Regulated Status of Alfalfa Genetically... making a determination on the status of the Monsanto Company and Forage Genetics International alfalfa... status of the Monsanto Company and Forage Genetics International alfalfa lines designated as events J101...

Genetic determinants of financial risk taking.

Science.gov (United States)

Kuhnen, Camelia M; Chiao, Joan Y

2009-01-01

Individuals vary in their willingness to take financial risks. Here we show that variants of two genes that regulate dopamine and serotonin neurotransmission and have been previously linked to emotional behavior, anxiety and addiction (5-HTTLPR and DRD4) are significant determinants of risk taking in investment decisions. We find that the 5-HTTLPR s/s allele carriers take 28% less risk than those carrying the s/l or l/l alleles of the gene. DRD4 7-repeat allele carriers take 25% more risk than individuals without the 7-repeat allele. These findings contribute to the emerging literature on the genetic determinants of economic behavior.

Defects in medical X-ray equipment

International Nuclear Information System (INIS)

Eder, H.; Wahl, H.; Troeger, W.

1979-01-01

A careful estimate of the effects on the genetically significant radiation load shows that it is in the same order of magnitude as the increase in the skin dose area product. This is to say that of the genetically significant radiation dose of about 500 mJ/kg (50 mrem) per year and person due to medical X-ray diagnostics, about 75 mJ/kg (7.5 mrem) are due to serious defects in X-ray equipment. (orig.) [de

Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice

Directory of Open Access Journals (Sweden)

Priscila H. A. Oliveira

Full Text Available Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Method: A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. Results: The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%, interventricular communication (51.6%, patent ductus arteriosus (35.4%, pulmonary artery stenosis (25.8% and tetralogy of Fallot (22.5%. Conclusion: Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

Genetic Counseling: MedlinePlus Health Topic

Science.gov (United States)

... Craniosynostosis as a clinical and diagnostic problem: molecular pathology and... Article: GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital ... March of Dimes Birth Defects Foundation Also in Spanish ...

Genetic determinants of heart failure: facts and numbers.

Science.gov (United States)

Czepluch, Frauke S; Wollnik, Bernd; Hasenfuß, Gerd

2018-06-01

The relevance of gene mutations leading to heart diseases and hence heart failure has become evident. The risk for and the course of heart failure depends on genomic variants and mutations underlying the so-called genetic predisposition. Genetic contribution to heart failure is highly heterogenous and complex. For any patient with a likely inherited heart failure syndrome, genetic counselling is recommended and important. In the last few years, novel sequencing technologies (named next-generation sequencing - NGS) have dramatically improved the availability of molecular testing, the efficiency of genetic analyses, and moreover reduced the cost for genetic testing. Due to this development, genetic testing has become increasingly accessible and NGS-based sequencing is now applied in clinical routine diagnostics. One of the most common reasons of heart failure are cardiomyopathies such as the dilated or the hypertrophic cardiomyopathy. Nearly 100 disease-associated genes have been identified for cardiomyopathies. The knowledge of a pathogenic mutation can be used for genetic counselling, risk and prognosis determination, therapy guidance and hence for a more effective treatment. Besides, family cascade screening for a known familial, pathogenic mutation can lead to an early diagnosis in affected individuals. At that timepoint, a preventative intervention could be used to avoid or delay disease onset or delay disease progression. Understanding the cellular basis of genetic heart failure syndromes in more detail may provide new insights into the molecular biology of physiological and impaired cardiac (cell) function. As our understanding of the molecular and genetic pathophysiology of heart failure will increase, this might help to identify novel therapeutic targets and may lead to the development of new and specific treatment options in patients with heart failure. © 2018 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of the European

Developmental defects in zebrafish for classification of EGF pathway inhibitors

Energy Technology Data Exchange (ETDEWEB)

Pruvot, Benoist; Curé, Yoann; Djiotsa, Joachim; Voncken, Audrey; Muller, Marc, E-mail: m.muller@ulg.ac.be

2014-01-15

One of the major challenges when testing drug candidates targeted at a specific pathway in whole animals is the discrimination between specific effects and unwanted, off-target effects. Here we used the zebrafish to define several developmental defects caused by impairment of Egf signaling, a major pathway of interest in tumor biology. We inactivated Egf signaling by genetically blocking Egf expression or using specific inhibitors of the Egf receptor function. We show that the combined occurrence of defects in cartilage formation, disturbance of blood flow in the trunk and a decrease of myelin basic protein expression represent good indicators for impairment of Egf signaling. Finally, we present a classification of known tyrosine kinase inhibitors according to their specificity for the Egf pathway. In conclusion, we show that developmental indicators can help to discriminate between specific effects on the target pathway from off-target effects in molecularly targeted drug screening experiments in whole animal systems. - Highlights: • We analyze the functions of Egf signaling on zebrafish development. • Genetic blocking of Egf expression causes cartilage, myelin and circulatory defects. • Chemical inhibition of Egf receptor function causes similar defects. • Developmental defects can reveal the specificity of Egf pathway inhibitors.

Developmental defects in zebrafish for classification of EGF pathway inhibitors

International Nuclear Information System (INIS)

Pruvot, Benoist; Curé, Yoann; Djiotsa, Joachim; Voncken, Audrey; Muller, Marc

2014-01-01

One of the major challenges when testing drug candidates targeted at a specific pathway in whole animals is the discrimination between specific effects and unwanted, off-target effects. Here we used the zebrafish to define several developmental defects caused by impairment of Egf signaling, a major pathway of interest in tumor biology. We inactivated Egf signaling by genetically blocking Egf expression or using specific inhibitors of the Egf receptor function. We show that the combined occurrence of defects in cartilage formation, disturbance of blood flow in the trunk and a decrease of myelin basic protein expression represent good indicators for impairment of Egf signaling. Finally, we present a classification of known tyrosine kinase inhibitors according to their specificity for the Egf pathway. In conclusion, we show that developmental indicators can help to discriminate between specific effects on the target pathway from off-target effects in molecularly targeted drug screening experiments in whole animal systems. - Highlights: • We analyze the functions of Egf signaling on zebrafish development. • Genetic blocking of Egf expression causes cartilage, myelin and circulatory defects. • Chemical inhibition of Egf receptor function causes similar defects. • Developmental defects can reveal the specificity of Egf pathway inhibitors

Defective Glycinergic Synaptic Transmission in Zebrafish Motility Mutants

OpenAIRE

Hirata, Hiromi; Carta, Eloisa; Yamanaka, Iori; Harvey, Robert J.; Kuwada, John Y.

2010-01-01

Glycine is a major inhibitory neurotransmitter in the spinal cord and brainstem. Recently, in vivo analysis of glycinergic synaptic transmission has been pursued in zebrafish using molecular genetics. An ENU mutagenesis screen identified two behavioral mutants that are defective in glycinergic synaptic transmission. Zebrafish bandoneon (beo) mutants have a defect in glrbb, one of the duplicated glycine receptor (GlyR) β subunit genes. These mutants exhibit a loss of glycinergic synaptic ...

Genetic polymorphisms of the TYMS gene are not associated with congenital cardiac septal defects in a Han Chinese population.

Directory of Open Access Journals (Sweden)

Jian-Yuan Zhao

Full Text Available BACKGROUND: Clinical research indicates that periconceptional administration of folic acid can reduce the occurrence of congenital cardiac septal defects (CCSDs. The vital roles of folate exhibits in three ways: the unique methyl donor for DNA expression regulation, the de novo biosynthesis of purine and pyrimidine for DNA construction, and the serum homocysteine removal. Thymidylate synthase (TYMS is the solo catalysis enzyme for the de novo synthesis of dTMP, which is the essential precursor of DNA biosynthesis and repair process. To examine the role of TYMS in Congenital Cardiac Septal Defects (CCSDs risk, we investigated whether genetic polymorphisms in the TYMS gene associated with the CCSDs in a Han Chinese population. METHOD: Polymorphisms in the noncoding region of TYMS were identified via direct sequencing in 32 unrelated individuals composed of half CCSDs and half control subjects. Nine SNPs and two insertion/deletion polymorphisms were genotyped from two independent case-control studies involving a total of 529 CCSDs patients and 876 healthy control participants. The associations were examined by both single polymorphism and haplotype tests using logistic regression. RESULT: We found that TYMS polymorphisms were not related to the altered CCSDs risk, and even to the changed risk of VSDs subgroup, when tested in both studied groups separately or in combination. In the haplotype analysis, there were no haplotypes significantly associated with risks for CCSDs either. CONCLUSION: Our results show no association between common genetic polymorphisms of the regulatory region of the TYMS gene and CCSDs in the Han Chinese population.

Reduced TCA Flux in Diabetic Myotubes: Determined by Single Defects?

Science.gov (United States)

Gaster, Michael

2012-01-01

The diabetic phenotype is complex, requiring elucidation of key initiating defects. Diabetic myotubes express a primary reduced tricarboxylic acid (TCA) cycle flux but at present it is unclear in which part of the TCA cycle the defect is localised. In order to localise the defect we studied ATP production in isolated mitochondria from substrates entering the TCA cycle at various points. ATP production was measured by luminescence with or without concomitant ATP utilisation by hexokinase in mitochondria isolated from myotubes established from eight lean and eight type 2 diabetic subjects. The ATP production of investigated substrate combinations was significantly reduced in mitochondria isolated from type 2 diabetic subjects compared to lean. However, when ATP synthesis rates at different substrate combinations were normalized to the corresponding individual pyruvate-malate rate, there was no significant difference between groups. These results show that the primary reduced TCA cycle flux in diabetic myotubes is not explained by defects in specific part of the TCA cycle but rather results from a general downregulation of the TCA cycle.

76 FR 5780 - Determination of Regulated Status of Alfalfa Genetically Engineered for Tolerance to the...

Science.gov (United States)

2011-02-02

...] Determination of Regulated Status of Alfalfa Genetically Engineered for Tolerance to the Herbicide Glyphosate... decision and determination on the petition regarding the regulated status of alfalfa genetically engineered... regulated status of alfalfa genetically engineered for tolerance to the herbicide glyphosate based on an...

Genetic Determinism in the Genetics Curriculum: An Exploratory Study of the Effects of Mendelian and Weldonian Emphases

Science.gov (United States)

Jamieson, Annie; Radick, Gregory

2017-01-01

Twenty-first-century biology rejects genetic determinism, yet an exaggerated view of the power of genes in the making of bodies and minds remains a problem. What accounts for such tenacity? This article reports an exploratory study suggesting that the common reliance on Mendelian examples and concepts at the start of teaching in basic genetics is…

Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.

Science.gov (United States)

Boer, Lucas L; Morava, Eva; Klein, Willemijn M; Schepens-Franke, Annelieke N; Oostra, Roelof Jan

2017-06-01

The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis. It is imaginable that different "primary field defects," whether or not genetically based, induce a spectrum of caudal malformations. In the current study, we review the contemporary hypotheses and conceptual approaches regarding the etiology and pathogenesis of sirenomelia, especially in the context of concomitant conditions. To expand on the latter, we included the external and internal dysmorphology of one third trimester sirenomelic fetus from our anatomical museum collection, in which multiple concomitant but discordant anomalies were observed compared with classic sirenomelia, and was diagnosed as VACTERL-H association with sirenomelia. Birth Defects Research 109:791-804, 2017. © 2017 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc. © 2017 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc.

Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population

DEFF Research Database (Denmark)

Appel, Emil V R; Moltke, Ida; Jørgensen, Marit E

2018-01-01

We previously showed that a common genetic variant leads to a remarkably increased risk of type 2 diabetes (T2D) in the small and historically isolated Greenlandic population. Motivated by this, we aimed at discovering novel genetic determinants for glycated hemoglobin (HbA1C) and at estimating...

Genetic variants determining survival and fertility in an adverse African environment

DEFF Research Database (Denmark)

Koopman, Jacob J E; Pijpe, Jeroen; Böhringer, Stefan

2016-01-01

Human survival probability and fertility decline strongly with age. These life history traits have been shaped by evolution. However, research has failed to uncover a consistent genetic determination of variation in survival and fertility. As an explanation, such genetic determinants have been...... selected in adverse environments, in which humans have lived during most of their history, but are almost exclusively studied in populations in modern affluent environments. Here, we present a large-scale candidate gene association study in a rural African population living in an adverse environment...

Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

Science.gov (United States)

Hart, Joseph; Miriyala, Kalpana

2017-09-01

Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes. Though the association between spina bifida and WS1 is now well-documented, no study has attempted to characterize the range of spina bifida phenotypes seen in WS. Spina bifida encompasses several diagnoses with a wide scope of clinical severity, ranging from spina bifida occulta to myelomeningocele. We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth. Additionally, we review 32 total cases of neural tube defects associated with WS. Including this report, there have been 15 published cases of myelomeningocele, 10 cases of unspecified spina bifida, 3 cases of sacral dimples, 0 cases of meningocele, and 4 cases of miscellaneous other neural tube defects. Though the true frequency of each phenotype cannot be determined from this collection of cases, these results demonstrate that Waardenburg syndrome type 1 carries a notable risk of severe neural tube defects, which has implications in prenatal and genetic counseling. © 2017 Wiley Periodicals, Inc.

Correlation of damage threshold and surface geometry of nodular defects in HR coatings as determined by in-situ atomic force microscopy

International Nuclear Information System (INIS)

Staggs, M.C.; Kozlowski, M.R.; Siekhaus, W.J.; Balooch, M.

1992-10-01

Atomic force microscopy (AFM) was used to determine in-situ the correlation between the surface dimensions of defects in dielectric multilayer optical coatings and their susceptibility to damage by pulsed laser illumination. The primary surface defects studied were μm-scale domes associated with the classic nodule defect. The optical film studied was a highly reflective dielectric multilayer consisting of pairs of alternating HfO 2 and SiO 2 layers of quarter wave thickness at 1.06 μm. Nodule defect height and width dimensions were measured prior to laser illumination on two different samples. Correlation between these dimensions supported a simple model for the defect geometry. Defects with high nodule heights (> 0.6 μm) were found to be most susceptible to laser damage over a range of fluences between 0-35 J/cm 2 (1.06 μm, 10 ns, and 1/e 2 diam. of 1.3 mm). Crater defects, formed by nodules ejected from the coating prior to illumination, were also studied. None of the crater defects damaged when illuminated over the same range of fluences that the nodule defects were subjected to

Beliefs in genetic determinism and attitudes towards psychiatric genetic research: psychometric scale properties, construct associations, demographic correlates, and cross-cultural comparisons.

Science.gov (United States)

Voracek, Martin; Swami, Viren; Loibl, Lisa Mariella; Furnham, Adrian

2007-12-01

Using two new scales, this study examined beliefs in genetic determinism and attitudes towards psychiatric genetic research in student samples from Austria, Malaysia, Romania, and the United Kingdom. For both constructs, effects of culture were detectable, whereas those related to key demographics were either small and inconsistent across samples (political orientation and religiosity) or zero (sex and age). Judged from factorial dimensionality and internal consistency, the psychometric properties of both scales were satisfactory. Belief in genetic determinism had lower prevalence and corresponded only modestly to positive attitudes towards psychiatric genetic research which had higher prevalence. The correlations of both constructs with a preference of inequality among social groups (social dominance orientation) were modest and inconsistent across samples. Both scales appear appropriate for cross-cultural applications, in particular for research into lay theories and public perceptions regarding genetic vs environmental effects on human behavior, mental disorders, and behavioral and psychiatric genetic research related to these.

Expectation and futurity: The remarkable success of genetic determinism.

Science.gov (United States)

Esposito, Maurizio

2017-04-01

Genetic determinism is nowadays largely questioned and widely criticized. However, if we look at the history of biology in the last one hundred years, we realize that genetic determinism has always been controversial. Why, then, did it acquire such relevance in the past despite facing longstanding criticism? Through the analysis of some of the ambitious expectations of future scientific applications, this article explores the possibility that part of the historical success of genetic determinism lies in the powerful rhetorical strategies that have connected the germinal matter with alluring bio-technological visions. Indeed, in drawing on the recent perspectives of "expectation studies" in science and technology, it will be shown that there has been an interesting historical relationship between reductionist notions of the gene as a hereditary unit, coded information or functional DNA segment, and startling prophecies of what controlling such an entity might achieve. It will also be suggested that the well-known promissory nature of genomics is far older than the emergence of biotechnology in the 1970s. At least from the time of the bio-utopias predicted by J.B.S. Haldane and J. S. Huxley, the gene has often been surrounded by what I call the "rhetoric of futurity": a promissory rhetoric that, despite momentous changes in the life sciences throughout the 20th century, has remained relatively consistent over time. Copyright © 2017 Elsevier Ltd. All rights reserved.

An approach to determine a critical size for rolling contact fatigue initiating from rail surface defects

NARCIS (Netherlands)

Li, Z.; Zhao, X.; Dollevoet, R.P.B.J.

2016-01-01

A methodology for the determination of a critical size of surface defects, above which RCF can initiate, has been developed and demonstrated with its application to the passive type of squats under typical Dutch railway loading conditions. Such a methodology is based on stress evaluation of

Genetics of SCID

Directory of Open Access Journals (Sweden)

Cossu Fausto

2010-11-01

Full Text Available Abstract Human SCID (Severe Combined Immunodeficiency is a prenatal disorder of T lymphocyte development, that depends on the expression of numerous genes. The knowledge of the genetic basis of SCID is essential for diagnosis (e.g., clinical phenotype, lymphocyte profile and treatment (e.g., use and type of pre-hematopoietic stem cell transplant conditioning. Over the last years novel genetic defects causing SCID have been discovered, and the molecular and immunological mechanisms of SCID have been better characterized. Distinct forms of SCID show both common and peculiar (e.g., absence or presence of nonimmunological features aspects, and they are currently classified into six groups according to prevalent pathophysiological mechanisms: impaired cytokine-mediated signaling; pre-T cell receptor defects; increased lymphocyte apoptosis; defects in thymus embryogenesis; impaired calcium flux; other mechanisms. This review is the updated, extended and largely modified translation of the article "Cossu F: Le basi genetiche delle SCID", originally published in Italian language in the journal "Prospettive in Pediatria" 2009, 156:228-238.

Genetic Determinism in the Genetics Curriculum. An Exploratory Study of the Effects of Mendelian and Weldonian Emphases

Science.gov (United States)

Jamieson, Annie; Radick, Gregory

2017-12-01

Twenty-first-century biology rejects genetic determinism, yet an exaggerated view of the power of genes in the making of bodies and minds remains a problem. What accounts for such tenacity? This article reports an exploratory study suggesting that the common reliance on Mendelian examples and concepts at the start of teaching in basic genetics is an eliminable source of support for determinism. Undergraduate students who attended a standard `Mendelian approach' university course in introductory genetics on average showed no change in their determinist views about genes. By contrast, students who attended an alternative course which, inspired by the work of a critic of early Mendelism, W. F. R. Weldon (1860-1906), replaced an emphasis on Mendel's peas with an emphasis on developmental contexts and their role in bringing about phenotypic variability, were less determinist about genes by the end of teaching. Improvements in both the new Weldonian curriculum and the study design are in view for the future.

An Aggregated Method for Determining Railway Defects and Obstacle Parameters

Science.gov (United States)

Loktev, Daniil; Loktev, Alexey; Stepanov, Roman; Pevzner, Viktor; Alenov, Kanat

2018-03-01

The method of combining algorithms of image blur analysis and stereo vision to determine the distance to objects (including external defects of railway tracks) and the speed of moving objects-obstacles is proposed. To estimate the deviation of the distance depending on the blur a statistical approach, logarithmic, exponential and linear standard functions are used. The statistical approach includes a method of estimating least squares and the method of least modules. The accuracy of determining the distance to the object, its speed and direction of movement is obtained. The paper develops a method of determining distances to objects by analyzing a series of images and assessment of depth using defocusing using its aggregation with stereoscopic vision. This method is based on a physical effect of dependence on the determined distance to the object on the obtained image from the focal length or aperture of the lens. In the calculation of the blur spot diameter it is assumed that blur occurs at the point equally in all directions. According to the proposed approach, it is possible to determine the distance to the studied object and its blur by analyzing a series of images obtained using the video detector with different settings. The article proposes and scientifically substantiates new and improved existing methods for detecting the parameters of static and moving objects of control, and also compares the results of the use of various methods and the results of experiments. It is shown that the aggregate method gives the best approximation to the real distances.

Risk factors of neural tube defects: A reality of Batna region in Algeria

Directory of Open Access Journals (Sweden)

Romyla Bourouba

2018-07-01

Full Text Available Background: Neural tube defects (NTDs are severe birth defects, with genetic and/or environmental risk factors. Aim: The objective of this study was to analyze data on NTDs cases at the Batna Maternity Hospital and to investigate some environmental and two genetic risk factors suspected in the etiology of NTDs. Subjects and methods: This study was conducted on 82 healthy participants and 48 mothers with an NTD child. Peripheral blood samples were collected, in EDTA tubes and frozen at −20 °C until DNA extraction by conventional method. Genetic analysis of methylene tetrahydrofolate reductase C677T polymorphism was determined by real time PCR, while cystathionine-beta-synthase 844 insertion was investigated by traditional PCR. Chi-square analyses were used to evaluate differences in the distribution of data. The odds-ratio was also calculated. A P-value less than 0.05 were significant. Results: The incidence of NTD in Batna region was 1.58 per 1000 births. The rate of NTD was significantly higher in females than males, highest affected NTD newborn’s was observed in mothers aged between 25 and 29 years and the consanguinity among all NTD cases was 30%. Data showed no significant association of NTDs with personal education, obesity, diabetes, but regarding folic acid consumption, about 86% of NTD’s mothers in our region didn’t take pre-conceptional supplementation with this vitamin .Genetic factors results didn't show a significant association of NTDs with specific mutations of the variant C677T MTHFR, and no gene-gene interaction of CBS insertion and C677T polymorphism was found, despite a significant difference in heterozygote frequency of CBS 844ins68 genotype between NTD’s mothers and controls, OR: 2.85(1.18–6.88. Conclusion: NTD represents a real public health problem in Batna, Algeria. Various genetic and/or nutritional factors are implicated, although the mechanism is not clear. We suggest that further research should continue

Genetic determinants of P wave duration and PR segment

NARCIS (Netherlands)

Verweij, Niek; Mateo Leach, Irene; van den Boogaard, Malou; van Veldhuisen, Dirk J.; Christoffels, Vincent M.; Hillege, Hans L.; van Gilst, Wiek H.; Barnett, Phil; de Boer, Rudolf A.; van der Harst, Pim

2014-01-01

The PR interval on the ECG reflects atrial depolarization and atrioventricular nodal delay which can be partially differentiated by P wave duration and PR segment, respectively. Genome-wide association studies have identified several genetic loci for PR interval, but it remains to be determined

Quantitative determination of charge transfer parameters of photorefractive BaTiO3:Rh from EPR-based defect studies

International Nuclear Information System (INIS)

Veber, C; Meyer, M; Schirmer, O F; Kaczmarek, M

2003-01-01

Optical absorption bands can be used as fingerprints of defects and their charge states in insulators and semiconductors. On the basis of the photochromicity usually shown by such materials, a method is introduced by which the optical bands are assigned to the defects and their charge states. It is based on simultaneous measurements of the light-induced changes of the optical absorption and of the corresponding EPR signals. Moreover, indirectly optical bands of EPR-silent defects can also be labelled in this way, strongly widening the scope of EPR based defect studies. We apply this method to the infrared-sensitive photorefractive system BaTiO 3 :Rh, where illumination leads to recharging among the valence states Rh 5+ , Rh 4+ and Rh 3+ . The values of all parameters governing the charge transfers responsible are inferred from the magnitude of the absorption bands, the absolute determination of their absorption cross-sections and the kinetics of the absorption changes under illumination. In contrast to previous investigations, these parameters are deduced independently of photorefractive measurements

Allotment of aircraft spare parts using genetic alorithms

Directory of Open Access Journals (Sweden)

Batchoun Pascale

2003-01-01

Full Text Available In this paper we attempt to determine the optimal allocation of aircraft parts used as spares for replacement of defective parts on-board of a departing flight. In order to minimize the cost of delay caused by unexpected failure, Genetic algorithms (GAs are used to allocate the initial quantity of parts among the airports. GAs are a class of adaptive search procedures, that distinguish themselves from other optimization techniques by the use of concepts from population genetics to guide the search. Problem-specific knowledge is incorporated into the problem and efficient parameters are identified and tested for the task of optimizing the allocation of parts. The approach is illustrated by numerical results.

Genetic determinism of oil acidity among some DELI oil palm ...

African Journals Online (AJOL)

Genetic determinism of oil acidity among some DELI oil palm (Elaeis guineensis Jacq.) progenies. Benoit Constant Likeng-Li-Ngue, Joseph Martin Bell, Georges Franck Ngando-Ebongue, Godswill Ntsefong Ntsomboh, Hermine Bille Ngalle ...

Point defects in platinum

International Nuclear Information System (INIS)

Piercy, G.R.

1960-01-01

An investigation was made of the mobility and types of point defect introduced in platinum by deformation in liquid nitrogen, quenching into water from 1600 o C, or reactor irradiation at 50 o C. In all cases the activation energy for motion of the defect was determined from measurements of electrical resistivity. Measurements of density, hardness, and x-ray line broadening were also made there applicable. These experiments indicated that the principal defects remaining in platinum after irradiation were single vacant lattice sites and after quenching were pairs of vacant lattice sites. Those present after deformation In liquid nitrogen were single vacant lattice sites and another type of defect, perhaps interstitial atoms. (author)

Genetic Determinism and the Innate-Acquired Distinction in Medicine

Science.gov (United States)

2009-01-01

This article illustrates in which sense genetic determinism is still part of the contemporary interactionist consensus in medicine. Three dimensions of this consensus are discussed: kinds of causes, a continuum of traits ranging from monogenetic diseases to car accidents, and different kinds of determination due to different norms of reaction. On this basis, this article explicates in which sense the interactionist consensus presupposes the innate–acquired distinction. After a descriptive Part 1, Part 2 reviews why the innate–acquired distinction is under attack in contemporary philosophy of biology. Three arguments are then presented to provide a limited and pragmatic defense of the distinction: an epistemic, a conceptual, and a historical argument. If interpreted in a certain manner, and if the pragmatic goals of prevention and treatment (ideally specifying what medicine and health care is all about) are taken into account, then the innate–acquired distinction can be a useful epistemic tool. It can help, first, to understand that genetic determination does not mean fatalism, and, second, to maintain a system of checks and balances in the continuing nature–nurture debates. PMID:20234831

Visualizing Angiogenesis by Multiphoton Microscopy In Vivo in Genetically Modified 3D-PLGA/nHAp Scaffold for Calvarial Critical Bone Defect Repair.

Science.gov (United States)

Li, Jian; Jahr, Holger; Zheng, Wei; Ren, Pei-Gen

2017-09-07

The reconstruction of critically sized bone defects remains a serious clinical problem because of poor angiogenesis within tissue-engineered scaffolds during repair, which gives rise to a lack of sufficient blood supply and causes necrosis of the new tissues. Rapid vascularization is a vital prerequisite for new tissue survival and integration with existing host tissue. The de novo generation of vasculature in scaffolds is one of the most important steps in making bone regeneration more efficient, allowing repairing tissue to grow into a scaffold. To tackle this problem, the genetic modification of a biomaterial scaffold is used to accelerate angiogenesis and osteogenesis. However, visualizing and tracking in vivo blood vessel formation in real-time and in three-dimensional (3D) scaffolds or new bone tissue is still an obstacle for bone tissue engineering. Multiphoton microscopy (MPM) is a novel bio-imaging modality that can acquire volumetric data from biological structures in a high-resolution and minimally-invasive manner. The objective of this study was to visualize angiogenesis with multiphoton microscopy in vivo in a genetically modified 3D-PLGA/nHAp scaffold for calvarial critical bone defect repair. PLGA/nHAp scaffolds were functionalized for the sustained delivery of a growth factor pdgf-b gene carrying lentiviral vectors (LV-pdgfb) in order to facilitate angiogenesis and to enhance bone regeneration. In a scaffold-implanted calvarial critical bone defect mouse model, the blood vessel areas (BVAs) in PHp scaffolds were significantly higher than in PH scaffolds. Additionally, the expression of pdgf-b and angiogenesis-related genes, vWF and VEGFR2, increased correspondingly. MicroCT analysis indicated that the new bone formation in the PHp group dramatically improved compared to the other groups. To our knowledge, this is the first time multiphoton microscopy was used in bone tissue-engineering to investigate angiogenesis in a 3D bio-degradable scaffold in

Application of genetic algorithm in radio ecological models parameter determination

Energy Technology Data Exchange (ETDEWEB)

Pantelic, G. [Institute of Occupatioanl Health and Radiological Protection ' Dr Dragomir Karajovic' , Belgrade (Serbia)

2006-07-01

The method of genetic algorithms was used to determine the biological half-life of 137 Cs in cow milk after the accident in Chernobyl. Methodologically genetic algorithms are based on the fact that natural processes tend to optimize themselves and therefore this method should be more efficient in providing optimal solutions in the modeling of radio ecological and environmental events. The calculated biological half-life of 137 Cs in milk is (32 {+-} 3) days and transfer coefficient from grass to milk is (0.019 {+-} 0.005). (authors)

The Use of Patient-Specific Induced Pluripotent Stem Cells (iPSCs to Identify Osteoclast Defects in Rare Genetic Bone Disorders

Directory of Open Access Journals (Sweden)

I-Ping Chen

2014-12-01

Full Text Available More than 500 rare genetic bone disorders have been described, but for many of them only limited treatment options are available. Challenges for studying these bone diseases come from a lack of suitable animal models and unavailability of skeletal tissues for studies. Effectors for skeletal abnormalities of bone disorders may be abnormal bone formation directed by osteoblasts or anomalous bone resorption by osteoclasts, or both. Patient-specific induced pluripotent stem cells (iPSCs can be generated from somatic cells of various tissue sources and in theory can be differentiated into any desired cell type. However, successful differentiation of hiPSCs into functional bone cells is still a challenge. Our group focuses on the use of human iPSCs (hiPSCs to identify osteoclast defects in craniometaphyseal dysplasia. In this review, we describe the impact of stem cell technology on research for better treatment of such disorders, the generation of hiPSCs from patients with rare genetic bone disorders and current protocols for differentiating hiPSCs into osteoclasts.

Measuring genetic knowledge: a brief survey instrument for adolescents and adults.

Science.gov (United States)

Fitzgerald-Butt, S M; Bodine, A; Fry, K M; Ash, J; Zaidi, A N; Garg, V; Gerhardt, C A; McBride, K L

2016-02-01

Basic knowledge of genetics is essential for understanding genetic testing and counseling. The lack of a written, English language, validated, published measure has limited our ability to evaluate genetic knowledge of patients and families. Here, we begin the psychometric analysis of a true/false genetic knowledge measure. The 18-item measure was completed by parents of children with congenital heart defects (CHD) (n = 465) and adolescents and young adults with CHD (age: 15-25, n = 196) with a mean total correct score of 12.6 [standard deviation (SD) = 3.5, range: 0-18]. Utilizing exploratory factor analysis, we determined that one to three correlated factors, or abilities, were captured by our measure. Through confirmatory factor analysis, we determined that the two factor model was the best fit. Although it was necessary to remove two items, the remaining items exhibited adequate psychometric properties in a multidimensional item response theory analysis. Scores for each factor were computed, and a sum-score conversion table was derived. We conclude that this genetic knowledge measure discriminates best at low knowledge levels and is therefore well suited to determine a minimum adequate amount of genetic knowledge. However, further reliability testing and validation in diverse research and clinical settings is needed. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Genetics Home Reference: DNMT3A overgrowth syndrome

Science.gov (United States)

... symptoms, including a rounded upper back that also curves to the side ( kyphoscoliosis ), heart defects, flat feet ( ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

Application of genetic algorithm in radio ecological models parameter determination

International Nuclear Information System (INIS)

Pantelic, G.

2006-01-01

The method of genetic algorithms was used to determine the biological half-life of 137 Cs in cow milk after the accident in Chernobyl. Methodologically genetic algorithms are based on the fact that natural processes tend to optimize themselves and therefore this method should be more efficient in providing optimal solutions in the modeling of radio ecological and environmental events. The calculated biological half-life of 137 Cs in milk is (32 ± 3) days and transfer coefficient from grass to milk is (0.019 ± 0.005). (authors)

Defects and Disorder in the Drosophila Eye

Science.gov (United States)

Kim, Sangwoo; Carthew, Richard; Hilgenfeldt, Sascha

Cell division and differentiation tightly control the regular pattern in the normal eye of the Drosophila fruit fly while certain genetic mutations introduce disorder in the form of topological defects. Analyzing data from pupal retinas, we develop a model based on Voronoi construction that explains the defect statistics as a consequence of area variation of individual facets (ommatidia). The analysis reveals a previously unknown systematic long-range area variation that spans the entire eye, with distinct effects on topological disorder compared to local fluctuations. The internal structure of the ommatidia and the stiffness of their interior cells also plays a crucial role in the defect generation. Accurate predictions of the correlation between the area variation and the defect density in both normal and mutant animals are obtained without free parameters. This approach can potentially be applied to cellular systems in many other contexts to identify size-topology correlations near the onset of symmetry breaking. This work has been supported by the NIH (GM098077) and the NSF (Grant No. 1504301).

Topological defects in extended inflation

International Nuclear Information System (INIS)

Copeland, E.J.; Kolb, E.W.; Chicago Univ., IL; Liddle, A.R.

1990-04-01

We consider the production of topological defects, especially cosmic strings, in extended inflation models. In extended inflation, the Universe passes through a first-order phase transition via bubble percolation, which naturally allows defects to form at the end of inflation. The correlation length, which determines the number density of the defects, is related to the mean size of bubbles when they collide. This mechanism allows a natural combination of inflation and large-scale structure via cosmic strings. 18 refs

Topological defects in extended inflation

International Nuclear Information System (INIS)

Copeland, E.J.; Kolb, E.W.; Liddle, A.R.

1990-01-01

We consider the production of topological defects, especially cosmic strings, in extended-inflation models. In extended inflation, the Universe passes through a first-order phase transition via bubble percolation, which naturally allows defects to form at the end of inflation. The correlation length, which determines the number density of the defects, is related to the mean size of the bubbles when they collide. This mechanism allows a natural combination of inflation and large-scale structure via cosmic strings

76 FR 37767 - Pioneer Hi-Bred International, Inc.; Determination of Nonregulated Status for Corn Genetically...

Science.gov (United States)

2011-06-28

... genetically modified organisms but did not provide any specific disagreement with APHIS' analysis. Commenters... certain genetically engineered organisms. Our determination is based on our evaluation of data submitted... pests. Such genetically engineered organisms and products are considered ``regulated articles.'' The...

Teachers' Conceptions About the Genetic Determinism of Human Behaviour: A Survey in 23 Countries

Science.gov (United States)

Castéra, Jérémy; Clément, Pierre

2014-02-01

This work analyses the answers to a questionnaire from 8,285 in-service and pre-service teachers from 23 countries, elaborated by the Biohead-Citizen research project, to investigate teachers' conceptions related to the genetic determinism of human behaviour. A principal components analysis is used to assess the main trends in all the interviewed teachers' conceptions. This illustrates that innatism is present in two distinct ways: in relation to individuals (e.g. genetic determinism to justify intellectual likeness between individuals such as twins) or in relation to groups of humans (e.g. genetic determinism to justify gender differences or the superiority of some human ethnic groups). A between-factor analysis discriminates between countries, showing very significant differences. There is more innatism among teachers' conceptions in African countries and Lebanon than in European countries, Brazil and Australia. Among the other controlled parameters, only two are significantly independent of the country: the level of training and the level of knowledge of biology. A co-inertia analysis shows a strong correlation between non-citizen attitudes towards and innatist conceptions of genetic determinism regarding human groups. We discuss these findings and their implications for education.

Genetic modification of chondrocytes with insulin-like growth factor-1 enhances cartilage healing in an equine model.

Science.gov (United States)

Goodrich, L R; Hidaka, C; Robbins, P D; Evans, C H; Nixon, A J

2007-05-01

Gene therapy with insulin-like growth factor-1 (IGF-1) increases matrix production and enhances chondrocyte proliferation and survival in vitro. The purpose of this study was to determine whether arthroscopically-grafted chondrocytes genetically modified by an adenovirus vector encoding equine IGF-1 (AdIGF-1) would have a beneficial effect on cartilage healing in an equine femoropatellar joint model. A total of 16 horses underwent arthroscopic repair of a single 15 mm cartilage defect in each femoropatellar joint. One joint received 2 x 10(7) AdIGF-1 modified chondrocytes and the contralateral joint received 2 x 10(7) naive (unmodified) chondrocytes. Repairs were analysed at four weeks, nine weeks and eight months after surgery. Morphological and histological appearance, IGF-1 and collagen type II gene expression (polymerase chain reaction, in situ hybridisation and immunohistochemistry), collagen type II content (cyanogen bromide and sodium dodecyl sulphate-polyacrylamide gel electrophoresis), proteoglycan content (dimethylmethylene blue assay), and gene expression for collagen type I, matrix metalloproteinase (MMP)-1, MMP-3, MMP-13, aggrecanase-1, tissue inhibitor of matrix metalloproteinase-1 (TIMP-1) and TIMP-3 were evaluated. Genetic modification of chondrocytes significantly increased IGF-1 mRNA and ligand production in repair tissue for up to nine weeks following transplantation. The gross and histological appearance of IGF-1 modified repair tissue was improved over control defects. Gross filling of defects was significantly improved at four weeks, and a more hyaline-like tissue covered the lesions at eight months. Histological outcome at four and nine weeks post-transplantation revealed greater tissue filling of defects transplanted with genetically modified chondrocytes, whereas repair tissue in control defects was thin and irregular and more fibrous. Collagen type II expression in IGF-1 gene-transduced defects was increased 100-fold at four weeks and

Characteristic Morphologies of the Bicuspid Aortic Valve in Patients with Genetic Syndromes.

Science.gov (United States)

Niaz, Talha; Poterucha, Joseph T; Olson, Timothy M; Johnson, Jonathan N; Craviari, Cecilia; Nienaber, Thomas; Palfreeman, Jared; Cetta, Frank; Hagler, Donald J

2018-02-01

In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes. The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016. Cusp fusion morphology was determined from the echocardiographic studies, while coexisting cardiac defects and genetic syndromes were determined from chart review. A total of 1,037 patients with BAV were identified: 550 (53%) had an isolated BAV, 299 (29%) had BAV and a coexisting congenital heart defect, and 188 (18%) had BAV and a coexisting genetic syndrome or disorder. There were no differences in distribution of morphology across the three groups. However, right-noncoronary (RN) cusp fusion was the predominant morphology associated with Down syndrome (P = .002) and right-left (RL) cusp fusion was the predominant morphology associated with Turner syndrome (P = .02), DiGeorge syndrome (P = .02), and Shone syndrome (P = .0007), when compared with valve morphology in patients with isolated BAV. Isolated BAV patients with RN cusp fusion had larger ascending aorta diameter (P = .001) and higher number of patients with ≥ moderate aortic regurgitation (P = .02), while those with RL cusp fusion had larger sinus of Valsalva diameter (P = .0006). Morphological subtypes of BAV are associated with different genetic syndromes, suggesting distinct perturbations of developmental pathways in aortic valve malformation. Copyright © 2017 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

LENUS (Irish Health Repository)

Pangilinan, Faith

2012-08-02

AbstractBackgroundNeural tube defects (NTDs) are common birth defects (~1 in 1000 pregnancies in the US and Europe) that have complex origins, including environmental and genetic factors. A low level of maternal folate is one well-established risk factor, with maternal periconceptional folic acid supplementation reducing the occurrence of NTD pregnancies by 50-70%. Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) and MTHFD1 rs2236225 (R653Q)) have been found to increase NTD risk. We hypothesized that variants in additional folate\\/B12 pathway genes contribute to NTD risk.MethodsA tagSNP approach was used to screen common variation in 82 candidate genes selected from the folate\\/B12 pathway and NTD mouse models. We initially genotyped polymorphisms in 320 Irish triads (NTD cases and their parents), including 301 cases and 341 Irish controls to perform case–control and family based association tests. Significantly associated polymorphisms were genotyped in a secondary set of 250 families that included 229 cases and 658 controls. The combined results for 1441 SNPs were used in a joint analysis to test for case and maternal effects.ResultsNearly 70 SNPs in 30 genes were found to be associated with NTDs at the p < 0.01 level. The ten strongest association signals (p-value range: 0.0003–0.0023) were found in nine genes (MFTC, CDKN2A, ADA, PEMT, CUBN, GART, DNMT3A, MTHFD1 and T (Brachyury)) and included the known NTD risk factor MTHFD1 R653Q (rs2236225). The single strongest signal was observed in a new candidate, MFTC rs17803441 (OR = 1.61 [1.23-2.08], p = 0.0003 for the minor allele). Though nominally significant, these associations did not remain significant after correction for multiple hypothesis testing.ConclusionsTo our knowledge, with respect to sample size and scope of evaluation of candidate polymorphisms, this is the largest NTD genetic association study reported to date. The scale of the study and the

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

Directory of Open Access Journals (Sweden)

Pangilinan Faith

2012-08-01

Full Text Available Abstract Background Neural tube defects (NTDs are common birth defects (~1 in 1000 pregnancies in the US and Europe that have complex origins, including environmental and genetic factors. A low level of maternal folate is one well-established risk factor, with maternal periconceptional folic acid supplementation reducing the occurrence of NTD pregnancies by 50-70%. Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T and MTHFD1 rs2236225 (R653Q have been found to increase NTD risk. We hypothesized that variants in additional folate/B12 pathway genes contribute to NTD risk. Methods A tagSNP approach was used to screen common variation in 82 candidate genes selected from the folate/B12 pathway and NTD mouse models. We initially genotyped polymorphisms in 320 Irish triads (NTD cases and their parents, including 301 cases and 341 Irish controls to perform case–control and family based association tests. Significantly associated polymorphisms were genotyped in a secondary set of 250 families that included 229 cases and 658 controls. The combined results for 1441 SNPs were used in a joint analysis to test for case and maternal effects. Results Nearly 70 SNPs in 30 genes were found to be associated with NTDs at the p MFTC, CDKN2A, ADA, PEMT, CUBN, GART, DNMT3A, MTHFD1 and T (Brachyury and included the known NTD risk factor MTHFD1 R653Q (rs2236225. The single strongest signal was observed in a new candidate, MFTC rs17803441 (OR = 1.61 [1.23-2.08], p = 0.0003 for the minor allele. Though nominally significant, these associations did not remain significant after correction for multiple hypothesis testing. Conclusions To our knowledge, with respect to sample size and scope of evaluation of candidate polymorphisms, this is the largest NTD genetic association study reported to date. The scale of the study and the stringency of correction are likely to have contributed to real associations failing to survive

Influence of neutrophil defects on Burkholderia cepacia complex pathogenesis

Directory of Open Access Journals (Sweden)

Laura A. Porter

2011-11-01

Full Text Available The Burkholderia cepacia complex (Bcc is a group of Gram-negative bacteria that are ubiquitous in the environment and have emerged as opportunistic pathogens in immunocompromised patients. The primary patient populations infected with Bcc include individuals with cystic fibrosis (CF, as well as those with chronic granulomatous disease (CGD. While Bcc infection in CF is better characterized than in CGD, these two genetic diseases are not obviously similar and it is currently unknown if there is any commonality in host immune defects that is responsible for the susceptibility to Bcc. CF is caused by mutations in the CF transmembrane conductance regulator, resulting in manifestations in various organ systems, however the major cause of morbidity and mortality is currently due to bacterial respiratory infections. CGD, on the other hand, is a genetic disorder that is caused by defects in phagocyte NADPH oxidase. Because of the defect in CGD, phagocytes in these patients are unable to produce reactive oxygen species, which results in increased susceptibility to bacterial and fungal infections. Despite this significant defect in microbial clearance, the spectrum of pathogens frequently implicated in infections in CGD is relatively narrow and includes some bacterial species that are considered almost pathognomonic for this disorder. Very little is known about the cause of the specific susceptibility to Bcc over other potential pathogens more prevalent in the environment, and a better understanding of specific mechanisms required for bacterial virulence has become a high priority. This review will summarize both the current knowledge and future directions related to Bcc virulence in immunocompromised individuals with a focus on the roles of bacterial factors and neutrophil defects in pathogenesis.

Genetic determinants of leucocyte telomere length in children: a neglected and challenging field.

Science.gov (United States)

Stathopoulou, Maria G; Petrelis, Alexandros M; Buxton, Jessica L; Froguel, Philippe; Blakemore, Alexandra I F; Visvikis-Siest, Sophie

2015-03-01

Telomere length is associated with a large range of human diseases. Genome-wide association studies (GWAS) have identified genetic variants that are associated with leucocyte telomere length (LTL). However, these studies are limited to adult populations. Nevertheless, childhood is a crucial period for the determination of LTL, and the assessment of age-specific genetic determinants, although neglected, could be of great importance. Our aim was to provide insights and preliminary results on genetic determinants of LTL in children. Healthy children (n = 322, age range = 6.75-17 years) with available GWAS data (Illumina Human CNV370-Duo array) were included. The LTL was measured using multiplex quantitative real-time polymerase chain reaction. Linear regression models adjusted for age, gender, parental age at child's birth, and body mass index were used to test the associations of LTL with polymorphisms identified in adult GWAS and to perform a discovery-only GWAS. The previously GWAS-identified variants in adults were not associated with LTL in our paediatric sample. This lack of association was not due to possible interactions with age or gene × gene interactions. Furthermore, a discovery-only GWAS approach demonstrated six novel variants that reached the level of suggestive association (P ≤ 5 × 10(-5)) and explain a high percentage of children's LTL. The study of genetic determinants of LTL in children may identify novel variants not previously identified in adults. Studies in large-scale children populations are needed for the confirmation of these results, possibly through a childhood consortium that could better handle the methodological challenges of LTL genetic epidemiology field. © 2015 John Wiley & Sons Ltd.

Mouse Models for Investigating the Developmental Bases of Human Birth Defects

OpenAIRE

MOON, ANNE M.

2006-01-01

Clinicians and basic scientists share an interest in discovering how genetic or environmental factors interact to perturb normal development and cause birth defects and human disease. Given the complexity of such interactions, it is not surprising that 4% of human infants are born with a congenital malformation, and cardiovascular defects occur in nearly 1%. Our research is based on the fundamental hypothesis that an understanding of normal and abnormal development will permit us to generate ...

New method for the determination of the defect profile in thin layers grown over a substrate

International Nuclear Information System (INIS)

Zubiaga, A.; Garcia, J.A.; Plazaola, F.; Tuomisto, F.; Zuniga, J.; Munoz-Sanjose, V.

2007-01-01

We present a new method to obtain information about the defect profile of films grown over high quality substrates. The method is valid, at least, for films where the positron mean-diffusion length is small. We have used the method for the case of ZnO films grown over sapphire, but the method can be generalized very easily to other film/substrate systems. Applying the method to the ratio of W and S parameters obtained from Doppler broadening measurements, W/S plots, one can determine the thickness of the film and the defect profile trend in the film, when mainly one positron trap is contributing to positron trapping within the film. Indeed, the quality of such a characterization is very important for the potential technological applications of the film. (copyright 2007 WILEY-VCH Verlag GmbH and Co. KGaA, Weinheim) (orig.)

New method for the determination of the defect profile in thin layers grown over a substrate

Energy Technology Data Exchange (ETDEWEB)

Zubiaga, A.; Garcia, J.A.; Plazaola, F. [Fisika Aplikatua II Saila, Euskal Herriko Unibertsitatea, Bilbao (Spain); Tuomisto, F. [Laboratory of Physics, Helsinki University of Technology, Espoo (Finland); Zuniga, J.; Munoz-Sanjose, V. [Departamento de Fisica Aplicada i Electromagnetisme, Burjassot (Valencia) (Spain)

2007-07-01

We present a new method to obtain information about the defect profile of films grown over high quality substrates. The method is valid, at least, for films where the positron mean-diffusion length is small. We have used the method for the case of ZnO films grown over sapphire, but the method can be generalized very easily to other film/substrate systems. Applying the method to the ratio of W and S parameters obtained from Doppler broadening measurements, W/S plots, one can determine the thickness of the film and the defect profile trend in the film, when mainly one positron trap is contributing to positron trapping within the film. Indeed, the quality of such a characterization is very important for the potential technological applications of the film. (copyright 2007 WILEY-VCH Verlag GmbH and Co. KGaA, Weinheim) (orig.)

The multiple genetic causes of central hypothyroidism.

Science.gov (United States)

Persani, Luca; Bonomi, Marco

2017-03-01

An insufficient stimulation by thyrotropin (TSH) of an otherwise normal thyroid gland represents the cause of Central Hypothyrodism (CeH). CeH is about 1000-folds rarer than Primary Hypothyroidism and often represents a real challenge for the clinicians, mainly because they cannot rely on adequately sensitive parameters for diagnosis or management, as it occurs with circulating TSH in PH. Therefore, CeH diagnosis can be frequently missed or delayed in patients with a previously unknown pituitary involvement. A series of genetic defects have been described to account for isolated CeH or combined pituitary hormone defects (CPHDs) with variable clinical characteristics and degrees of severity. The recently identified candidate gene IGSF1 appears frequently involved. This review provides an updated illustration of the different genetic defects accounting for CeH. Copyright © 2017 Elsevier Ltd. All rights reserved.

Genetically determined angiotensin converting enzyme level and myocardial tolerance to ischemia

OpenAIRE

Messadi, Erij; Vincent, Marie-Pascale; Griol-Charhbili, Violaine; Mandet, Chantal; Colucci, Juliana; Krege, John H.; Bruneval, Patrick; Bouby, Nadine; Smithies, Oliver; Alhenc-Gelas, François; Richer, Christine

2010-01-01

Angiotensin I-converting enzyme (ACE; kininase II) levels in humans are genetically determined. ACE levels have been linked to risk of myocardial infarction, but the association has been inconsistent, and the causality underlying it remains undocumented. We tested the hypothesis that genetic variation in ACE levels influences myocardial tolerance to ischemia. We studied ischemia-reperfusion injury in mice bearing 1 (ACE1c), 2 (ACE2c, wild type), or 3 (ACE3c) functional copies of the ACE gene ...

A better coefficient of determination for genetic profile analysis.

Science.gov (United States)

Lee, Sang Hong; Goddard, Michael E; Wray, Naomi R; Visscher, Peter M

2012-04-01

Genome-wide association studies have facilitated the construction of risk predictors for disease from multiple Single Nucleotide Polymorphism markers. The ability of such "genetic profiles" to predict outcome is usually quantified in an independent data set. Coefficients of determination (R(2) ) have been a useful measure to quantify the goodness-of-fit of the genetic profile. Various pseudo-R(2) measures for binary responses have been proposed. However, there is no standard or consensus measure because the concept of residual variance is not easily defined on the observed probability scale. Unlike other nongenetic predictors such as environmental exposure, there is prior information on genetic predictors because for most traits there are estimates of the proportion of variation in risk in the population due to all genetic factors, the heritability. It is this useful ability to benchmark that makes the choice of a measure of goodness-of-fit in genetic profiling different from that of nongenetic predictors. In this study, we use a liability threshold model to establish the relationship between the observed probability scale and underlying liability scale in measuring R(2) for binary responses. We show that currently used R(2) measures are difficult to interpret, biased by ascertainment, and not comparable to heritability. We suggest a novel and globally standard measure of R(2) that is interpretable on the liability scale. Furthermore, even when using ascertained case-control studies that are typical in human disease studies, we can obtain an R(2) measure on the liability scale that can be compared directly to heritability. © 2012 Wiley Periodicals, Inc.

Nonhomologous Recombination between Defective Poliovirus and Coxsackievirus Genomes Suggests a New Model of Genetic Plasticity for Picornaviruses

Science.gov (United States)

Holmblat, Barbara; Jégouic, Sophie; Muslin, Claire; Blondel, Bruno; Joffret, Marie-Line

2014-01-01

ABSTRACT Most of the circulating vaccine-derived polioviruses (cVDPVs) implicated in poliomyelitis outbreaks in Madagascar have been shown to be recombinants between the type 2 poliovirus (PV) strain of the oral polio vaccine (Sabin 2) and another species C human enterovirus (HEV-C), such as type 17 coxsackie A virus (CA17) in particular. We studied intertypic genetic exchanges between PV and non-PV HEV-C by developing a recombination model, making it possible to rescue defective type 2 PV RNA genomes with a short deletion at the 3′ end by the cotransfection of cells with defective or infectious CA17 RNAs. We isolated over 200 different PV/CA17 recombinants, using murine cells expressing the human PV receptor (PVR) and selecting viruses with PV capsids. We found some homologous (H) recombinants and, mostly, nonhomologous (NH) recombinants presenting duplications of parental sequences preferentially located in the regions encoding proteins 2A, 2B, and 3A. Short duplications appeared to be stable, whereas longer duplications were excised during passaging in cultured cells or after multiplication in PVR-transgenic mice, generating H recombinants with diverse sites of recombination. This suggests that NH recombination events may be a transient, intermediate step in the generation and selection of the fittest H recombinants. In addition to the classical copy-choice mechanism of recombination thought to generate mostly H recombinants, there may also be a modular mechanism of recombination, involving NH recombinant precursors, shaping the genomes of recombinant enteroviruses and other picornaviruses. PMID:25096874

Gonad morphogenesis defects drive hybrid male sterility in asymmetric hybrid breakdown of Caenorhabditis nematodes.

Science.gov (United States)

Dey, Alivia; Jin, Qi; Chen, Yen-Chu; Cutter, Asher D

2014-01-01

Determining the causes and evolution of reproductive barriers to gene flow between populations, speciation, is the key to understanding the origin of diversity in nature. Many species manifest hybrid breakdown when they intercross, characterized by increasingly exacerbated problems in later generations of hybrids. Recently, Caenorhabditis nematodes have emerged as a genetic model for studying speciation, and here we investigate the nature and causes of hybrid breakdown between Caenorhabditis remanei and C. latens. We quantify partial F1 hybrid inviability and extensive F2 hybrid inviability; the ~75% F2 embryonic arrest occurs primarily during gastrulation or embryonic elongation. Moreover, F1 hybrid males exhibit Haldane's rule asymmetrically for both sterility and inviability, being strongest when C. remanei serves as maternal parent. We show that the mechanism by which sterile hybrid males are incapable of transferring sperm or a copulatory plug involves defective gonad morphogenesis, which we hypothesize results from linker cell defects in migration and/or cell death during development. This first documented case of partial hybrid male sterility in Caenorhabditis follows expectations of Darwin's corollary to Haldane's rule for asymmetric male fitness, providing a powerful foundation for molecular dissection of intrinsic reproductive barriers and divergence of genetic pathways controlling organ morphogenesis. © 2014 Wiley Periodicals, Inc.

75 FR 20560 - Syngenta Biotechnology, Inc.; Determination of Nonregulated Status for Corn Genetically...

Science.gov (United States)

2010-04-20

...] Syngenta Biotechnology, Inc.; Determination of Nonregulated Status for Corn Genetically Engineered for... are advising the public of our determination that a corn line developed by Syngenta Biotechnology, Inc... Biotechnology, Inc., in its petition for a determination of nonregulated status, our analysis of other...

Natural defects and defects created by ionic implantation in zinc tellurium

International Nuclear Information System (INIS)

Roche, J.P.; Dupuy, M.; Pfister, J.C.

1977-01-01

Various defects have been studied in ZnTe crystals by transmission electron microscope and by scanning electron microscope in cathodo-luminescence mode: grain boundaries, sub-grain boundaries, twins. Ionic implants of boron (100 keV - 2x10 14 and 10 15 ions cm -2 ) were made on these crystals followed by isochrone annealing (30 minutes) of zinc under partial pressure at 550, 650 and 750 0 C. The nature of the defects was determined by transmission electron microscope: these are interstitial loops (b=1/3 ) the size of which varies between 20 A (non-annealed sample) and 180A (annealed at 750 0 C). The transmission electron microscope was also used to make concentration profiles of defects depending on depth. It is found that for the same implant (2x10 14 ions.cm -2 ), the defect peak moves towards the exterior of the crystal as the annealing temperature rises (400 - 1000 and 7000 A for the three annealings). These results are explained from a model which allows for the coalescence of defects and considers the surface of the sample as being the principal source of vacancies. During the annealings, the migration of vacancies brings about the gradual annihilation of the implant defects. The adjustment of certain calculation parameters on the computer result in giving 2 eV as energy value for the formation of vacancies [fr

Determination of nonlinear genetic architecture using compressed sensing.

Science.gov (United States)

Ho, Chiu Man; Hsu, Stephen D H

2015-01-01

One of the fundamental problems of modern genomics is to extract the genetic architecture of a complex trait from a data set of individual genotypes and trait values. Establishing this important connection between genotype and phenotype is complicated by the large number of candidate genes, the potentially large number of causal loci, and the likely presence of some nonlinear interactions between different genes. Compressed Sensing methods obtain solutions to under-constrained systems of linear equations. These methods can be applied to the problem of determining the best model relating genotype to phenotype, and generally deliver better performance than simply regressing the phenotype against each genetic variant, one at a time. We introduce a Compressed Sensing method that can reconstruct nonlinear genetic models (i.e., including epistasis, or gene-gene interactions) from phenotype-genotype (GWAS) data. Our method uses L1-penalized regression applied to nonlinear functions of the sensing matrix. The computational and data resource requirements for our method are similar to those necessary for reconstruction of linear genetic models (or identification of gene-trait associations), assuming a condition of generalized sparsity, which limits the total number of gene-gene interactions. An example of a sparse nonlinear model is one in which a typical locus interacts with several or even many others, but only a small subset of all possible interactions exist. It seems plausible that most genetic architectures fall in this category. We give theoretical arguments suggesting that the method is nearly optimal in performance, and demonstrate its effectiveness on broad classes of nonlinear genetic models using simulated human genomes and the small amount of currently available real data. A phase transition (i.e., dramatic and qualitative change) in the behavior of the algorithm indicates when sufficient data is available for its successful application. Our results indicate

Legal implications of genetics and crime research.

Science.gov (United States)

Denno, D W

1996-01-01

Two controversial topics dominate discussions of the legal implications of genetics and crime research; (1) the viability and politics of such research, which has sparked fervent debate in the USA; and (2) the current status of new or atypical criminal law defences, which would include a genetic-defect defence to criminal behaviour. This chapter begins by examining the scientifically discredited XYY chromosome syndrome defence, the major genetic-defect defence that defendants have attempted, albeit unsuccessfully. It then focuses on attorneys' efforts to test for evidence of genetic abnormality in the recent and highly publicized case involving convicted murderer Stephen Mobley, whose family history reveals four generations of violent, aggressive and behaviourally disordered men and women. Mobley is currently appealing his death sentence before the Georgia Supreme Court on the basis that the trial court denied his request both to have genetic testing performed and to have such testing allowed as evidence into court. This chapter concludes by emphasizing that the question is not whether genetic evidence will ever be admitted into court, but when and under what kinds of circumstances. No doubt, genetic evidence, and comparable kinds of biological evidence, will have a major impact on juries when such evidence is more fully accepted by the legal and scientific communities.

Predicting internal red oak (Quercus rubra) log defect features using surface defect defect measurements

Science.gov (United States)

R. Edward. Thomas

2013-01-01

Determining the defects located within a log is crucial to understanding the tree/log resource for efficient processing. However, existing means of doing this non-destructively requires the use of expensive x-ray/CT (computerized tomography), MRI (magnetic resonance imaging), or microwave technology. These methods do not lend themselves to fast, efficient, and cost-...

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Science.gov (United States)

Horga, Alejandro; Pitceathly, Robert D S; Blake, Julian C; Woodward, Catherine E; Zapater, Pedro; Fratter, Carl; Mudanohwo, Ese E; Plant, Gordon T; Houlden, Henry; Sweeney, Mary G; Hanna, Michael G; Reilly, Mary M

2014-12-01

Progressive external ophthalmoplegia is a common clinical feature in mitochondrial disease caused by nuclear DNA defects and single, large-scale mitochondrial DNA deletions and is less frequently associated with point mutations of mitochondrial DNA. Peripheral neuropathy is also a frequent manifestation of mitochondrial disease, although its prevalence and characteristics varies considerably among the different syndromes and genetic aetiologies. Based on clinical observations, we systematically investigated whether the presence of peripheral neuropathy could predict the underlying genetic defect in patients with progressive external ophthalmoplegia. We analysed detailed demographic, clinical and neurophysiological data from 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia. Seventy-eight patients (67%) had a single mitochondrial DNA deletion, 12 (10%) had a point mutation of mitochondrial DNA and 26 (22%) had mutations in either POLG, C10orf2 or RRM2B, or had multiple mitochondrial DNA deletions in muscle without an identified nuclear gene defect. Seventy-seven patients had neurophysiological studies; of these, 16 patients (21%) had a large-fibre peripheral neuropathy. The prevalence of peripheral neuropathy was significantly lower in patients with a single mitochondrial DNA deletion (2%) as compared to those with a point mutation of mitochondrial DNA or with a nuclear DNA defect (44% and 52%, respectively; Pperipheral neuropathy as the only independent predictor associated with a nuclear DNA defect (P=0.002; odds ratio 8.43, 95% confidence interval 2.24-31.76). Multinomial logistic regression analysis identified peripheral neuropathy, family history and hearing loss as significant predictors of the genotype, and the same three variables showed the highest performance in genotype classification in a decision tree analysis. Of these variables, peripheral neuropathy had the highest specificity (91%), negative

Genetic determinants of common epilepsies

DEFF Research Database (Denmark)

2014-01-01

and insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilepsy and focal epilepsy). METHODS: We combined genome-wide association data from 12 cohorts of individuals with epilepsy...... not previously implicated in epilepsy and provides further evidence about the genetic architecture of these disorders, with the ultimate aim of assisting in disease classification and prognosis. The data suggest that specific loci can act pleiotropically raising risk for epilepsy broadly, or can have effects...... and controls from population-based datasets. Controls were ethnically matched with cases. We phenotyped individuals with epilepsy into categories of genetic generalised epilepsy, focal epilepsy, or unclassified epilepsy. After standardised filtering for quality control and imputation to account for different...

On the application of the weak-beam technique to the determination of the sizes of small point-defect clusters in ion-irradiated copper

International Nuclear Information System (INIS)

Jenkins, M. L.

1998-01-01

We have made an analysis of the conditions necessary for the successful use of the weak-beam technique for identifying and characterizing small point-defect clusters in ion-irradiated copper. The visibility of small defects was found to depend only weakly on the magnitude of the beam-convergence. In general, the image sizes of small clusters were found to be most sensitive to the magnitude of Sa with the image sizes of some individual defects changing by large amounts with changes as small as 0.025 nm -1 . The most reliable information on the true defect size is likely to be obtained by taking a series of 5-9 micrographs with a systematic variation of deviation parameter from 0.2-0.3 nm -1 . This procedure allows size information to be obtained down to a resolution limit of about 0.5 nm for defects situated throughout a foil thickness of 60 nm. The technique has been applied to the determination of changes in the sizes of small defects produced by a low-temperature in-situ irradiation and annealing experiment

Nuclear genetic defects of mitochondrial ATP synthase

Czech Academy of Sciences Publication Activity Database

Hejzlarová, Kateřina; Mráček, Tomáš; Vrbacký, Marek; Kaplanová, Vilma; Karbanová, Vendula; Nůsková, Hana; Pecina, Petr; Houštěk, Josef

2014-01-01

Roč. 63, Suppl.1 (2014), S57-S71 ISSN 0862-8408 R&D Projects: GA ČR(CZ) GAP303/11/0970; GA ČR GAP303/12/1363; GA MZd(CZ) NT12370; GA MZd(CZ) NT14050 Grant - others:Univerzita Karlova(CZ) 370411 Institutional support: RVO:67985823 Keywords : mitochondrial diseases * TMEM70 * ATPAF1 * ATP5A1 * ATP5E Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.293, year: 2014

Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency

Directory of Open Access Journals (Sweden)

Djidjik Réda

2012-08-01

Full Text Available Abstract Presenting processed antigens to CD4+ lymphocytes during the immune response involves major histocompatibility complex class II molecules. MHC class II genes transcription is regulated by four transcription factors: CIITA, RFXANK, RFX5 and RFXAP. Defects in these factors result in major histocompatibility complex class II expression deficiency, a primary combined immunodeficiency frequent in North Africa. Autosomal recessive mutations in the RFXANK gene have been reported as being the principal defect found in North African patients with this disorder. In this paper, we describe clinical, immunological and genetic features of 11 unrelated Algerian patients whose monocytes display a total absence of MHC class II molecules. They shared mainly the same clinical picture which included protracted diarrhoea and respiratory tract recurrent infections. Genetic analysis revealed that 9 of the 11 patients had the same RFXANK founder mutation, a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26. Immunological and genetic findings in our series may facilitate genetic counselling implementation for Algerian consanguineous families. Further studies need to be conducted to determine 752delG26 heterozygous mutation frequency in Algerian population.

75 FR 1585 - Draft Environmental Impact Statement; Determination of Regulated Status of Alfalfa Genetically...

Science.gov (United States)

2010-01-12

...] Draft Environmental Impact Statement; Determination of Regulated Status of Alfalfa Genetically... and Forage Genetics International alfalfa lines designated as events J101 and J163 as regulated... International (FGI) alfalfa events J101 and J163 were no longer considered regulated articles under the...

Analysis of the concept of informed consent concerning the use of genetic material according to the European Convention on Bioethics and in other solutionsm – Propositions for broad consent for future genetic research from the point of view of the activity of the Biobank

Directory of Open Access Journals (Sweden)

Rafał Patryn

2017-09-01

The presented proposition of consent with a terminal premise is to be applied eventually to legal and formal aspects of the collecting of genetic material. It is a possible solution which would clarify the issue of informed consent, and may be implemented in the regulations of the Convention as well as constitute a self-contained legislative solution to this matter. For example, Polish law in its current form, without the ratification of the Bioethical Convention, allows the collecting of material for genetic testing for determination of the risk of genetic defects in common genetic material from people who are planning to have a child.

Defect properties from X-ray scattering experiments

International Nuclear Information System (INIS)

Peisl, H.

1976-01-01

Lattice distortions due to defects in crystals can be studied most directly by elastic X-ray or neutron scattering experiments. The 'size' of the defects can be determined from the shift of the Bragg reflections. Defect induced diffuse scattering intensity close to and between Bragg reflections gives information on the strength and symmetry of the distortion fields and yields the atomic structure of point defects (interstitials, vacancies, small aggregates). Diffuse scattering is a very sensitive method to decide whether defects are present as isolated point defects or have formed aggregates. X-ray scattering has been used to study defects produced in various ionic crystals by γ- and neutron irradiation. After an introduction to the principles of the method the experimental results will be reviewed and discussed in some detail. (orig.) [de

Rapid and reliable healing of critical size bone defects with genetically modified sheep muscle.

Science.gov (United States)

Liu, F; Ferreira, E; Porter, R M; Glatt, V; Schinhan, M; Shen, Z; Randolph, M A; Kirker-Head, C A; Wehling, C; Vrahas, M S; Evans, C H; Wells, J W

2015-09-21

Large segmental defects in bone fail to heal and remain a clinical problem. Muscle is highly osteogenic, and preliminary data suggest that autologous muscle tissue expressing bone morphogenetic protein-2 (BMP-2) efficiently heals critical size defects in rats. Translation into possible human clinical trials requires, inter alia, demonstration of efficacy in a large animal, such as the sheep. Scale-up is fraught with numerous biological, anatomical, mechanical and structural variables, which cannot be addressed systematically because of cost and other practical issues. For this reason, we developed a translational model enabling us to isolate the biological question of whether sheep muscle, transduced with adenovirus expressing BMP-2, could heal critical size defects in vivo. Initial experiments in athymic rats noted strong healing in only about one-third of animals because of unexpected immune responses to sheep antigens. For this reason, subsequent experiments were performed with Fischer rats under transient immunosuppression. Such experiments confirmed remarkably rapid and reliable healing of the defects in all rats, with bridging by 2 weeks and remodelling as early as 3-4 weeks, despite BMP-2 production only in nanogram quantities and persisting for only 1-3 weeks. By 8 weeks the healed defects contained well-organised new bone with advanced neo-cortication and abundant marrow. Bone mineral content and mechanical strength were close to normal values. These data demonstrate the utility of this model when adapting this technology for bone healing in sheep, as a prelude to human clinical trials.

76 FR 78232 - Monsanto Co.; Determination of Nonregulated Status for Soybean Genetically Engineered To Have a...

Science.gov (United States)

2011-12-16

... peer review of safety tests, and health effects of genetically modified organisms and glyphosate. APHIS...] Monsanto Co.; Determination of Nonregulated Status for Soybean Genetically Engineered To Have a Modified... that there is reason to believe are plant pests. Such genetically engineered organisms and products are...

Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma

OpenAIRE

Chen, Xue; Zhang, Yang; Wang, Fang; Wang, Mangju; Teng, Wen; Lin, Yuehui; Han, Xiangping; Jin, Fangyuan; Xu, Yuanli; Cao, Panxiang; Fang, Jiancheng; Zhu, Ping; Tong, Chunrong; Liu, Hongxing

2017-01-01

Certain patients with lymphoma may harbor mutations in perforin 1 (PRF1), unc-13 homolog D (UNC13D), syntaxin 11 (STX11), STXBP2 (syntaxin binding protein 2) or SH2 domain containing 1A (SH2D1A), which causes functional defects of cytotoxic lymphocytes. Data regarding the association between genetic defects and the development of lymphoma in Chinese patients are limited to date. In the present study, 90 patients with lymphoma were analyzed for UNC13D, PRF1, STXBP2, STX11, SH2D1A and X-linked ...

Genetics Home Reference: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

Science.gov (United States)

... Conditions XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Printable PDF Open All Close ... boxes. Description X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym ...

Genetics of Congenital Heart Disease: Past and Present.

Science.gov (United States)

Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

2017-04-01

Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

Defects and defect processes in nonmetallic solids

CERN Document Server

Hayes, W

2004-01-01

This extensive survey covers defects in nonmetals, emphasizing point defects and point-defect processes. It encompasses electronic, vibrational, and optical properties of defective solids, plus dislocations and grain boundaries. 1985 edition.

Neutron diffraction and lattice defects

International Nuclear Information System (INIS)

Hamaguchi, Yoshikazu

1974-01-01

Study on lattice defects by neutron diffraction technique is described. Wave length of neutron wave is longer than that of X-ray, and absorption cross-section is small. Number of defects observed by ESR is up to several defects, and the number studied with electron microscopes is more than 100. Information obtained by neutron diffraction concerns the number of defects between these two ranges. For practical analysis, several probable models are selected from the data of ESR or electron microscopes, and most probable one is determined by calculation. Then, defect concentration is obtained from scattering cross section. It is possible to measure elastic scattering exclusively by neutron diffraction. Minimum detectable concentration estimated is about 0.5% and 10 20 - 10 21 defects per unit volume. A chopper and a time of flight system are used as a measuring system. Cold neutrons are obtained from the neutron sources inserted into reactors. Examples of measurements by using similar equipments to PTNS-I system of Japan Atomic Energy Research Institute are presented. Interstitial concentration in the graphite irradiated by fast neutrons is shown. Defects in irradiated MgO were also investigated by measuring scattering cross section. Study of defects in Ge was made by measuring total cross section, and model analysis was performed in comparison with various models. (Kato, T.)

78 FR 13302 - Syngenta Biotechnology, Inc.; Determination of Nonregulated Status of Corn Genetically Engineered...

Science.gov (United States)

2013-02-27

...] Syngenta Biotechnology, Inc.; Determination of Nonregulated Status of Corn Genetically Engineered for... are advising the public of our determination that a corn line developed by the Syngenta Biotechnology... evaluation of data submitted by Syngenta Biotechnology, Inc., in its petition for a determination of...

Defining defect specifications to optimize photomask production and requalification

Science.gov (United States)

Fiekowsky, Peter

2006-10-01

Reducing defect repairs and accelerating defect analysis is becoming more important as the total cost of defect repairs on advanced masks increases. Photomask defect specs based on printability, as measured on AIMS microscopes has been used for years, but the fundamental defect spec is still the defect size, as measured on the photomask, requiring the repair of many unprintable defects. ADAS, the Automated Defect Analysis System from AVI is now available in most advanced mask shops. It makes the use of pure printability specs, or "Optimal Defect Specs" practical. This software uses advanced algorithms to eliminate false defects caused by approximations in the inspection algorithm, classify each defect, simulate each defect and disposition each defect based on its printability and location. This paper defines "optimal defect specs", explains why they are now practical and economic, gives a method of determining them and provides accuracy data.

Fully Ab-Initio Determination of the Thermoelectric Properties of Half-Heusler NiTiSn: Crucial Role of Interstitial Ni Defects.

Science.gov (United States)

Berche, Alexandre; Jund, Philippe

2018-05-23

For thermoelectric applications, ab initio methods generally fail to predict the transport properties of the materials because of their inability to predict properly the carrier concentrations that control the electronic properties. In this work, a methodology to fill in this gap is applied on the NiTiSn half Heusler phase. For that, we show that the main defects act as donor of electrons and are responsible of the electronic properties of the material. Indeed, the presence of Ni i interstitial defects explains the experimental valence band spectrum and its associated band gap reported in the literature. Moreover, combining the DOS of the solid solutions with the determination of the energy of formation of charged defects, we show that Ni i defects are also responsible of the measured carrier concentration in experimentally supposed "pure" NiTiSn compounds. Subsequently the thermoelectric properties of NiTiSn can be calculated using a fully ab initio description and an overall correct agreement with experiments is obtained. This methodology can be extended to predict the result of extrinsic doping and thus to select the most efficient dopant for specific thermoelectric applications.

Genetic Determinants of Thrombin Generation and Their Relation to Venous Thrombosis: Results from the GAIT-2 Project

Science.gov (United States)

Martin-Fernandez, Laura; Ziyatdinov, Andrey; Carrasco, Marina; Millon, Juan Antonio; Martinez-Perez, Angel; Vilalta, Noelia; Brunel, Helena; Font, Montserrat; Hamsten, Anders; Souto, Juan Carlos; Soria, José Manuel

2016-01-01

Background Venous thromboembolism (VTE) is a common disease where known genetic risk factors explain only a small portion of the genetic variance. Then, the analysis of intermediate phenotypes, such as thrombin generation assay, can be used to identify novel genetic risk factors that contribute to VTE. Objectives To investigate the genetic basis of distinct quantitative phenotypes of thrombin generation and its relationship to the risk of VTE. Patients/Methods Lag time, thrombin peak and endogenous thrombin potential (ETP) were measured in the families of the Genetic Analysis of Idiopathic Thrombophilia 2 (GAIT-2) Project. This sample consisted of 935 individuals in 35 extended families selected through a proband with idiopathic thrombophilia. We performed also genome wide association studies (GWAS) with thrombin generation phenotypes. Results The results showed that 67% of the variation in the risk of VTE is attributable to genetic factors. The heritabilities of lag time, thrombin peak and ETP were 49%, 54% and 52%, respectively. More importantly, we demonstrated also the existence of positive genetic correlations between thrombin peak or ETP and the risk of VTE. Moreover, the major genetic determinant of thrombin generation was the F2 gene. However, other suggestive signals were observed. Conclusions The thrombin generation phenotypes are strongly genetically determined. The thrombin peak and ETP are significantly genetically correlated with the risk of VTE. In addition, F2 was identified as a major determinant of thrombin generation. We reported suggestive signals that might increase our knowledge to explain the variability of this important phenotype. Validation and functional studies are required to confirm GWAS results. PMID:26784699

Detection of defects of Kenaf/Epoxy by Thermography Analyses

International Nuclear Information System (INIS)

Suriani, M J; Ali, Aidi; Sapuan, S M; Khalina, A; Abdullah, S

2012-01-01

There are quite a few defects can occur due to manufacturing of the composites such as voids, resin-rich zones, pockets of undispersed cross-linker, misaligned fibres and regions where resin has poorly wetted the fibres. Such defect can reduce the mechanical properties as well mechanical performance of the structure and thus must be determine. In this study, the defect of Kenaf/epoxy reinforced composite materials has been determined by thermography analyses and mechanical properties testing of the composites have been done by tensile test. 95% of the thermography analyses have proved that the defects occur in the composite has reduced the mechanical properties of the specimens.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. Alpana Naresh. Articles written in Journal of Genetics. Volume 79 Issue 3 2000 pp 83-90. Identification of four genes involved in suppression of the pre-mRNA splicing defect in the sng1-1/rhp6 mutant of fission yeast · Alpana Naresh Jagmohan Singh · More Details Abstract Fulltext PDF.

75 FR 32356 - Pioneer Hi-Bred International, Inc.; Determination of Nonregulated Status for Genetically...

Science.gov (United States)

2010-06-08

...] Pioneer Hi-Bred International, Inc.; Determination of Nonregulated Status for Genetically Engineered High... advising the public of our determination that a soybean line developed by Pioneer Hi-Bred International... engineered organisms. Our determination is based on our evaluation of data submitted by Pioneer Hi-Bred...

Pelvic incidence variation among individuals: functional influence versus genetic determinism.

Science.gov (United States)

Chen, Hong-Fang; Zhao, Chang-Qing

2018-03-20

Pelvic incidence has become one of the most important sagittal parameters in spinal surgery. Despite its great importance, pelvic incidence can vary from 33° to 85° in the normal population. The reasons for this great variability in pelvic incidence remain unexplored. The objective of this article is to present some possible interpretations for the great variability in pelvic incidence under both normal and pathological conditions and to further understand the determinants of pelvic incidence from the perspective of the functional requirements for bipedalism and genetic backgrounds via a literature review. We postulate that both pelvic incidence and pelvic morphology may be genetically predetermined, and a great variability in pelvic incidence may already exist even before birth. This great variability may also serve as a further reminder that the sagittal profile, bipedal locomotion mode, and genetic background of every individual are unique and specific, and clinicians should avoid making universally applying broad generalizations of pelvic incidence. Although PI is an important parameter and there are many theories behind its variability, we still do not have clear mechanistic answers.

Genetic diagnosis for congenital hemolytic anemia.

Science.gov (United States)

Ohga, Shouichi

2016-01-01

Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome. The clinical manifestations of congenital hemolytic anemia are anemia, jaundice, cholelithiasis and splenomegaly, while the onset mode and severity are both variable. Genetic overlapping of red cell membrane protein disorders, and distinct frequency and mutation spectra differing among races make it difficult to understand this disease entity. On the other hand, genetic modifiers for the phenotype of β-globin diseases provide useful information for selecting the optimal treatment and for long-term management. Recently, next generation sequencing techniques have enabled us to determine the novel causative genes in patients with undiagnosed hemolytic anemias. We herein review the concept and strategy for genetic diagnosis of inherited hemolytic anemias.

Spatial-time-state fusion algorithm for defect detection through eddy current pulsed thermography

Science.gov (United States)

Xiao, Xiang; Gao, Bin; Woo, Wai Lok; Tian, Gui Yun; Xiao, Xiao Ting

2018-05-01

Eddy Current Pulsed Thermography (ECPT) has received extensive attention due to its high sensitive of detectability on surface and subsurface cracks. However, it remains as a difficult challenge in unsupervised detection as to identify defects without knowing any prior knowledge. This paper presents a spatial-time-state features fusion algorithm to obtain fully profile of the defects by directional scanning. The proposed method is intended to conduct features extraction by using independent component analysis (ICA) and automatic features selection embedding genetic algorithm. Finally, the optimal feature of each step is fused to obtain defects reconstruction by applying common orthogonal basis extraction (COBE) method. Experiments have been conducted to validate the study and verify the efficacy of the proposed method on blind defect detection.

Exploring Genetic Suppression Interactions on a Global Scale

OpenAIRE

van Leeuwen, Jolanda; Pons, Carles; Mellor, Joseph C.; Yamaguchi, Takafumi N.; Friesen, Helena; Koschwanez, John; Ušaj, Mojca Mattiazzi; Pechlaner, Maria; Takar, Mehmet; Ušaj, Matej; VanderSluis, Benjamin; Andrusiak, Kerry; Bansal, Pritpal; Baryshnikova, Anastasia; Boone, Claire

2016-01-01

Genetic suppression occurs when the phenotypic defects caused by a mutation in a particular gene are rescued by a mutation in a second gene. To explore the principles of genetic suppression, we examined both literature-curated and unbiased experimental data, involving systematic genetic mapping and whole-genome sequencing, to generate a large-scale suppression network among yeast genes. Most suppression pairs identified novel relationships among functionally related genes, providing new insig...

Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma

NARCIS (Netherlands)

van Koolwijk, Leonieke M. E.; Ramdas, Wishal D.; Ikram, M. Kamran; Jansonius, Nomdo M.; Pasutto, Francesca; Hysi, Pirro G.; Macgregor, Stuart; Janssen, Sarah F.; Hewitt, Alex W.; Viswanathan, Ananth C.; ten Brink, Jacoline B.; Hosseini, S. Mohsen; Amin, Najaf; Despriet, Dominiek D. G.; Willemse-Assink, Jacqueline J. M.; Kramer, Rogier; Rivadeneira, Fernando; Struchalin, Maksim; Aulchenko, Yurii S.; Weisschuh, Nicole; Zenkel, Matthias; Mardin, Christian Y.; Gramer, Eugen; Welge-Luessen, Ulrich; Montgomery, Grant W.; Carbonaro, Francis; Young, Terri L.; Bellenguez, Celine; McGuffin, Peter; Foster, Paul J.; Topouzis, Fotis; Mitchell, Paul; Wang, Jie Jin; Wong, Tien Y.; Czudowska, Monika A.; Hofman, Albert; Uitterlinden, Andre G.; Wolfs, Roger C. W.; de Jong, Paulus T. V. M.; Oostra, Ben A.; Paterson, Andrew D.; Mackey, David A.; Bergen, Arthur A. B.; Reis, Andre; Hammond, Christopher J.; Vingerling, Johannes R.; Lemij, Hans G.; Klaver, Caroline C. W.; van Duijn, Cornelia M.

2012-01-01

Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma and is the only target for current glaucoma therapy. The genetic factors which determine IOP are largely unknown. We performed a genome-wide association study for IOP in 11,972 participants from 4

Genetic compatibility determines endophyte-grass combinations.

Directory of Open Access Journals (Sweden)

Kari Saikkonen

Full Text Available Even highly mutually beneficial microbial-plant interactions, such as mycorrhizal- and rhizobial-plant exchanges, involve selfishness, cheating and power-struggles between the partners, which depending on prevailing selective pressures, lead to a continuum of interactions from antagonistic to mutualistic. Using manipulated grass-endophyte combinations in a five year common garden experiment, we show that grass genotypes and genetic mismatches constrain genetic combinations between the vertically (via host seeds transmitted endophytes and the out-crossing host, thereby reducing infections in established grass populations. Infections were lost in both grass tillers and seedlings in F(1 and F(2 generations, respectively. Experimental plants were collected as seeds from two different environments, i.e., meadows and nearby riverbanks. Endophyte-related benefits to the host included an increased number of inflorescences, but only in meadow plants and not until the last growing season of the experiment. Our results illustrate the importance of genetic host specificity and trans-generational maternal effects on the genetic structure of a host population, which act as destabilizing forces in endophyte-grass symbioses. We propose that (1 genetic mismatches may act as a buffering mechanism against highly competitive endophyte-grass genotype combinations threatening the biodiversity of grassland communities and (2 these mismatches should be acknowledged, particularly in breeding programmes aimed at harnessing systemic and heritable endophytes to improve the agriculturally valuable characteristics of cultivars.

Determinants of consumer attitudes and purchase intentions with regard to genetically modifed foods

DEFF Research Database (Denmark)

Bredahl, Lone

2001-01-01

of the technology. Purchase decisions with regard to the two product examples were almost exclusively determined by attitudes towards purchasing the products. These were, in turn, significantly influenced by the overall attitude towards genetic modification in food production through their effects on beliefs held...... which was carried out in Denmark, Germany, Italy and the United Kingdom to investigate the formation of consumer attitudes towards genetic modification in food production and of purchase decisions with regard to genetically modified yoghurt and beer. Altogether, 2031 consumers were interviewed...... consumers. Across countries, the attitude towards genetic modification in food production was deeply embedded in more general attitudes held by the consumers, in particular attitude towards nature and attitude towards technology. These general attitudes were found to influence perceived risks and benefits...

DETERMINATION OF POSSIBLE REASONS OF DEFECT FORMATION «MICROPITTING» IN HARD-ALLOY WIRE DRAWING INSTRUMENT IN WIRE DRAWING PROCESS

Directory of Open Access Journals (Sweden)

T. P. Kurenkova

2011-01-01

Full Text Available It is determined that during operation a hard wear along with uniform attrition occurs in working canal of die because of welding of metal particles to the material of die, what results in formation of separate microholes, their enlargement and further defect creation of type “micropitting of hard alloy”.

Exploring atomic defects in molybdenum disulphide monolayers

KAUST Repository

Hong, Jinhua; Hu, Zhixin; Probert, Matt; Li, Kun; Lv, Danhui; Yang, Xinan; Gu, Lin; Mao, Nannan; Feng, Qingliang; Xie, Liming; Zhang, Jin; Wu, Dianzhong; Zhang, Zhiyong; Jin, Chuanhong; Ji, Wei; Zhang, Xixiang; Yuan, Jun; Zhang, Ze

2015-01-01

Defects usually play an important role in tailoring various properties of two-dimensional materials. Defects in two-dimensional monolayer molybdenum disulphide may be responsible for large variation of electric and optical properties. Here we present a comprehensive joint experiment-theory investigation of point defects in monolayer molybdenum disulphide prepared by mechanical exfoliation, physical and chemical vapour deposition. Defect species are systematically identified and their concentrations determined by aberration-corrected scanning transmission electron microscopy, and also studied by ab-initio calculation. Defect density up to 3.5 × 10 13 cm '2 is found and the dominant category of defects changes from sulphur vacancy in mechanical exfoliation and chemical vapour deposition samples to molybdenum antisite in physical vapour deposition samples. Influence of defects on electronic structure and charge-carrier mobility are predicted by calculation and observed by electric transport measurement. In light of these results, the growth of ultra-high-quality monolayer molybdenum disulphide appears a primary task for the community pursuing high-performance electronic devices.

Exploring atomic defects in molybdenum disulphide monolayers

KAUST Repository

Hong, Jinhua

2015-02-19

Defects usually play an important role in tailoring various properties of two-dimensional materials. Defects in two-dimensional monolayer molybdenum disulphide may be responsible for large variation of electric and optical properties. Here we present a comprehensive joint experiment-theory investigation of point defects in monolayer molybdenum disulphide prepared by mechanical exfoliation, physical and chemical vapour deposition. Defect species are systematically identified and their concentrations determined by aberration-corrected scanning transmission electron microscopy, and also studied by ab-initio calculation. Defect density up to 3.5 × 10 13 cm \\'2 is found and the dominant category of defects changes from sulphur vacancy in mechanical exfoliation and chemical vapour deposition samples to molybdenum antisite in physical vapour deposition samples. Influence of defects on electronic structure and charge-carrier mobility are predicted by calculation and observed by electric transport measurement. In light of these results, the growth of ultra-high-quality monolayer molybdenum disulphide appears a primary task for the community pursuing high-performance electronic devices.

Feline genetics: clinical applications and genetic testing.

Science.gov (United States)

Lyons, Leslie A

2010-11-01

DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome. Copyright © 2010 Elsevier Inc. All rights reserved.

Influence of irradiation defects on anelastic properties of magnesium

International Nuclear Information System (INIS)

Minier, C.; Haneczok, G.; Lauzier, J.

1985-01-01

Irradiation defects in magnesium and their interactions with dislocations are studied by internal friction and elastic modulus. Long distance migration of different defects are determined. Relaxation peaks at very low temperature are analyzed. In the interaction peak between defects and dislocations it is shown that defects are interstitials and that dislocations are responsible for the peak B 1 and the interaction mechanism is probably associated to a side motion of defects along the lines. Defects brought by irradiation on dislocations are used for testing Bordoni relaxation theory and variation of parameters of peak B 1 and B 2 are analyzed [fr

Mean Glenoid Defect Size and Location Associated With Anterior Shoulder Instability

Science.gov (United States)

Gottschalk, Lionel J.; Bois, Aaron J.; Shelby, Marcus A.; Miniaci, Anthony; Jones, Morgan H.

2017-01-01

Background: There is a strong correlation between glenoid defect size and recurrent anterior shoulder instability. A better understanding of glenoid defects could lead to improved treatments and outcomes. Purpose: To (1) determine the rate of reporting numeric measurements for glenoid defect size, (2) determine the consistency of glenoid defect size and location reported within the literature, (3) define the typical size and location of glenoid defects, and (4) determine whether a correlation exists between defect size and treatment outcome. Study Design: Systematic review; Level of evidence, 4. Methods: PubMed, Ovid, and Cochrane databases were searched for clinical studies measuring glenoid defect size or location. We excluded studies with defect size requirements or pathology other than anterior instability and studies that included patients with known prior surgery. Our search produced 83 studies; 38 studies provided numeric measurements for glenoid defect size and 2 for defect location. Results: From 1981 to 2000, a total of 5.6% (1 of 18) of the studies reported numeric measurements for glenoid defect size; from 2001 to 2014, the rate of reporting glenoid defects increased to 58.7% (37 of 63). Fourteen studies (n = 1363 shoulders) reported defect size ranges for percentage loss of glenoid width, and 9 studies (n = 570 shoulders) reported defect size ranges for percentage loss of glenoid surface area. According to 2 studies, the mean glenoid defect orientation was pointing toward the 3:01 and 3:20 positions on the glenoid clock face. Conclusion: Since 2001, the rate of reporting numeric measurements for glenoid defect size was only 58.7%. Among studies reporting the percentage loss of glenoid width, 23.6% of shoulders had a defect between 10% and 25%, and among studies reporting the percentage loss of glenoid surface area, 44.7% of shoulders had a defect between 5% and 20%. There is significant variability in the way glenoid bone loss is measured, calculated

Determination of genetic relatedness from low-coverage human genome sequences using pedigree simulations.

Science.gov (United States)

Martin, Michael D; Jay, Flora; Castellano, Sergi; Slatkin, Montgomery

2017-08-01

We develop and evaluate methods for inferring relatedness among individuals from low-coverage DNA sequences of their genomes, with particular emphasis on sequences obtained from fossil remains. We suggest the major factors complicating the determination of relatedness among ancient individuals are sequencing depth, the number of overlapping sites, the sequencing error rate and the presence of contamination from present-day genetic sources. We develop a theoretical model that facilitates the exploration of these factors and their relative effects, via measurement of pairwise genetic distances, without calling genotypes, and determine the power to infer relatedness under various scenarios of varying sequencing depth, present-day contamination and sequencing error. The model is validated by a simulation study as well as the analysis of aligned sequences from present-day human genomes. We then apply the method to the recently published genome sequences of ancient Europeans, developing a statistical treatment to determine confidence in assigned relatedness that is, in some cases, more precise than previously reported. As the majority of ancient specimens are from animals, this method would be applicable to investigate kinship in nonhuman remains. The developed software grups (Genetic Relatedness Using Pedigree Simulations) is implemented in Python and freely available. © 2017 John Wiley & Sons Ltd.

Positron lifetime calculation for defects and defect clusters in graphite

International Nuclear Information System (INIS)

Onitsuka, T.; Ohkubo, H.; Takenaka, M.; Tsukuda, N.; Kuramoto, E.

2000-01-01

Calculations of positron lifetime have been made for vacancy type defects in graphite and compared with experimental results. Defect structures were obtained in a model graphite lattice after including relaxation of whole lattice as determined by the molecular dynamics method, where the interatomic potential given by Pablo Andribet, Dominguez-Vazguez, Mari Carmen Perez-Martin, Alonso, Jimenez-Rodriguez [Nucl. Instrum. and Meth. 115 (1996) 501] was used. For the defect structures obtained via lattice relaxation positron lifetime was calculated under the so-called atomic superposition method. Positron lifetimes 204 and 222 ps were obtained for the graphite matrix and a single vacancy, respectively, which can be compared with the experimental results 208 and 233 ps. For planar vacancy clusters, e.g., vacancy loops, lifetime calculation was also made and indicated that lifetime increases with the number of vacancies in a cluster. This is consistent with the experimental result in the region of higher annealing temperature (above 1200 deg. C), where the increase of positron lifetime is seen, probably corresponding to the clustering of mobile vacancies

Feature selection for neural network based defect classification of ceramic components using high frequency ultrasound.

Science.gov (United States)

Kesharaju, Manasa; Nagarajah, Romesh

2015-09-01

The motivation for this research stems from a need for providing a non-destructive testing method capable of detecting and locating any defects and microstructural variations within armour ceramic components before issuing them to the soldiers who rely on them for their survival. The development of an automated ultrasonic inspection based classification system would make possible the checking of each ceramic component and immediately alert the operator about the presence of defects. Generally, in many classification problems a choice of features or dimensionality reduction is significant and simultaneously very difficult, as a substantial computational effort is required to evaluate possible feature subsets. In this research, a combination of artificial neural networks and genetic algorithms are used to optimize the feature subset used in classification of various defects in reaction-sintered silicon carbide ceramic components. Initially wavelet based feature extraction is implemented from the region of interest. An Artificial Neural Network classifier is employed to evaluate the performance of these features. Genetic Algorithm based feature selection is performed. Principal Component Analysis is a popular technique used for feature selection and is compared with the genetic algorithm based technique in terms of classification accuracy and selection of optimal number of features. The experimental results confirm that features identified by Principal Component Analysis lead to improved performance in terms of classification percentage with 96% than Genetic algorithm with 94%. Copyright © 2015 Elsevier B.V. All rights reserved.

Congenital and Genetic Disease in Domestic Animals

Science.gov (United States)

Mulvihill, John J.

1972-01-01

Reviews observations on domestic animals that have led to the identification of environmental teratogens, and have provided insight into the pathogenesis of congenital defects and genetic diseases in man." (Author/AL)

Comparison of French and Estonian Students' Conceptions in Genetic Determinism of Human Behaviours

Science.gov (United States)

Castera, Jeremy; Sarapuu, Tago; Clement, Pierre

2013-01-01

Innatism is the belief that most of the human personality can be determined by genes. This ideology is dangerous, especially when it claims to be scientific. The present study investigates conceptions of 1060 students from Estonia and France related to genetic determinism of some human behaviours. Factors taken into account included students'…

Positron annihilation spectroscopy in defects of semiconductors

International Nuclear Information System (INIS)

Fujinami, Masanori

2002-01-01

Interaction of positron and defects, application to research of defects of semiconductor and defects on the surface of semiconductor are explained. Cz (Czochralski)-Si single crystal with 10 18 cm -3 impurity oxygen was introduced defects by electron irradiation and the positron lifetime was measured at 90K after annealing. The defect size and recovery temperature were determined by the lifetime measurement. The distribution of defects in the depth direction is shown by S-E curve. The chemical state analysis is possible by CBS (Coincidence Doppler Broadening) spectra. The application to silicon-implanted (100 keV, 2x10 15 cm -2 ) silicon and oxygen-implanted (180 keV, 2x10 15 cm -2 ) silicon are stated. On the oxygen-implanted silicon, the main product was V2 after implantation, V 6 O 2 at 600degC and V 10 O 6 at 800degC. (S.Y.)

76 FR 63278 - Bayer CropScience LP; Determination of Nonregulated Status for Cotton Genetically Engineered for...

Science.gov (United States)

2011-10-12

... part 340, ``Introduction of Organisms and Products Altered or Produced Through Genetic Engineering... regulations governing the introduction of certain genetically engineered organisms. Our determination is based... things, the introduction (importation, interstate movement, or release into the environment) of organisms...

Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects.

Directory of Open Access Journals (Sweden)

Tamar R Grossman

2011-11-01

Full Text Available A significant current challenge in human genetics is the identification of interacting genetic loci mediating complex polygenic disorders. One of the best characterized polygenic diseases is Down syndrome (DS, which results from an extra copy of part or all of chromosome 21. A short interval near the distal tip of chromosome 21 contributes to congenital heart defects (CHD, and a variety of indirect genetic evidence suggests that multiple candidate genes in this region may contribute to this phenotype. We devised a tiered genetic approach to identify interacting CHD candidate genes. We first used the well vetted Drosophila heart as an assay to identify interacting CHD candidate genes by expressing them alone and in all possible pairwise combinations and testing for effects on rhythmicity or heart failure following stress. This comprehensive analysis identified DSCAM and COL6A2 as the most strongly interacting pair of genes. We then over-expressed these two genes alone or in combination in the mouse heart. While over-expression of either gene alone did not affect viability and had little or no effect on heart physiology or morphology, co-expression of the two genes resulted in ≈50% mortality and severe physiological and morphological defects, including atrial septal defects and cardiac hypertrophy. Cooperative interactions between DSCAM and COL6A2 were also observed in the H9C2 cardiac cell line and transcriptional analysis of this interaction points to genes involved in adhesion and cardiac hypertrophy. Our success in defining a cooperative interaction between DSCAM and COL6A2 suggests that the multi-tiered genetic approach we have taken involving human mapping data, comprehensive combinatorial screening in Drosophila, and validation in vivo in mice and in mammalian cells lines should be applicable to identifying specific loci mediating a broad variety of other polygenic disorders.

Proteomic approach to characterize biochemistry of meat quality defects.

Science.gov (United States)

Schilling, M W; Suman, S P; Zhang, X; Nair, M N; Desai, M A; Cai, K; Ciaramella, M A; Allen, P J

2017-10-01

Proteomics can be used to characterize quality defects including pale, soft, and exudative (PSE) meat (pork and poultry), woody broiler breast meat, reddish catfish fillets, meat toughness, and beef myoglobin oxidation. PSE broiler meat was characterized by 15 proteins that differed in abundance in comparison to normal broiler breast meat, and eight proteins were differentially expressed in woody breast meat in comparison to normal breast meat. Hemoglobin was the only protein that was differentially expressed between red and normal catfish fillets. However, inducing low oxygen and/or heat stress conditions to catfish fillets did not lead to the production of red fillets. Proteomic data provided information pertaining to the protein differences that exist in meat quality defects. However, these data need to be evaluated in conjunction with information pertaining to genetics, nutrition, environment of the live animal, muscle to meat conversion, meat quality analyses and sensory attributes to understand causality, protein biomarkers, and ultimately how to prevent quality defects. Copyright © 2017 Elsevier Ltd. All rights reserved.

Mapping determinants of gene expression plasticity by genetical genomics in C. elegans.

Directory of Open Access Journals (Sweden)

Yang Li

2006-12-01

Full Text Available Recent genetical genomics studies have provided intimate views on gene regulatory networks. Gene expression variations between genetically different individuals have been mapped to the causal regulatory regions, termed expression quantitative trait loci. Whether the environment-induced plastic response of gene expression also shows heritable difference has not yet been studied. Here we show that differential expression induced by temperatures of 16 degrees C and 24 degrees C has a strong genetic component in Caenorhabditis elegans recombinant inbred strains derived from a cross between strains CB4856 (Hawaii and N2 (Bristol. No less than 59% of 308 trans-acting genes showed a significant eQTL-by-environment interaction, here termed plasticity quantitative trait loci. In contrast, only 8% of an estimated 188 cis-acting genes showed such interaction. This indicates that heritable differences in plastic responses of gene expression are largely regulated in trans. This regulation is spread over many different regulators. However, for one group of trans-genes we found prominent evidence for a common master regulator: a transband of 66 coregulated genes appeared at 24 degrees C. Our results suggest widespread genetic variation of differential expression responses to environmental impacts and demonstrate the potential of genetical genomics for mapping the molecular determinants of phenotypic plasticity.

Impurity Role In Mechanically Induced Defects

International Nuclear Information System (INIS)

Howell, R.H.; Asoka-Kumar, P.; Hartley, J.; Sterne, P.

2000-01-01

An improved understanding of dislocation dynamics and interactions is an outstanding problem in the multi scale modeling of materials properties, and is the current focus of major theoretical efforts world wide. We have developed experimental and theoretical tools that will enable us to measure and calculate quantities defined by the defect structure. Unique to the measurements is a new spectroscopy that determines the detailed elemental composition at the defect site. The measurements are based on positron annihilation spectroscopy performed with a 3 MeV positron beam [1]. Positron annihilation spectroscopy is highly sensitive to dislocations and associated defects and can provide unique elements of the defect size and structure. Performing this spectroscopy with a highly penetrating positron beam enables flexibility in sample handling. Experiments on fatigued and stressed samples have been done and in situ measurement capabilities have been developed. We have recently performed significant upgrades to the accelerator operation and novel new experiments have been performed [2-4] To relate the spectrographic results and the detailed structure of a defect requires detailed calculations. Measurements are coupled with calculated results based on a description of positions of atoms at the defect. This gives an atomistic view of dislocations and associated defects including impurity interactions. Our ability to probe impurity interactions is a unique contribution to defect understanding not easily addressed by other atomistic spectroscopies

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.

Low-Dose Radiation Cataract and Genetic Determinants of Radiosensitivity

Energy Technology Data Exchange (ETDEWEB)

Kleiman, Norman Jay [Columbia University

2013-11-30

The lens of the eye is one of the most radiosensitive tissues in the body. Ocular ionizing radiation exposure results in characteristic, dose related, progressive lens changes leading to cataract formation. While initial, early stages of lens opacification may not cause visual disability, the severity of such changes progressively increases with dose until vision is impaired and cataract extraction surgery may be required. Because of the transparency of the eye, radiation induced lens changes can easily be followed non-invasively over time. Thus, the lens provides a unique model system in which to study the effects of low dose ionizing radiation exposure in a complex, highly organized tissue. Despite this observation, considerable uncertainties remain surrounding the relationship between dose and risk of developing radiation cataract. For example, a growing number of human epidemiological findings suggest significant risk among various groups of occupationally and accidentally exposed individuals and confidence intervals that include zero dose. Nevertheless, questions remain concerning the relationship between lens opacities, visual disability, clinical cataract, threshold dose and/or the role of genetics in determining radiosensitivity. Experimentally, the response of the rodent eye to radiation is quite similar to that in humans and thus animal studies are well suited to examine the relationship between radiation exposure, genetic determinants of radiosensitivity and cataractogenesis. The current work has expanded our knowledge of the low-dose effects of X-irradiation or high-LET heavy ion exposure on timing and progression of radiation cataract and has provided new information on the genetic, molecular, biochemical and cell biological features which contribute to this pathology. Furthermore, findings have indicated that single and/or multiple haploinsufficiency for various genes involved in DNA repair and cell cycle checkpoint control, such as Atm, Brca1 or Rad9

Defects in conformal field theory

International Nuclear Information System (INIS)

Billò, Marco; Gonçalves, Vasco; Lauria, Edoardo; Meineri, Marco

2016-01-01

We discuss consequences of the breaking of conformal symmetry by a flat or spherical extended operator. We adapt the embedding formalism to the study of correlation functions of symmetric traceless tensors in the presence of the defect. Two-point functions of a bulk and a defect primary are fixed by conformal invariance up to a set of OPE coefficients, and we identify the allowed tensor structures. A correlator of two bulk primaries depends on two cross-ratios, and we study its conformal block decomposition in the case of external scalars. The Casimir equation in the defect channel reduces to a hypergeometric equation, while the bulk channel blocks are recursively determined in the light-cone limit. In the special case of a defect of codimension two, we map the Casimir equation in the bulk channel to the one of a four-point function without defect. Finally, we analyze the contact terms of the stress-tensor with the extended operator, and we deduce constraints on the CFT data. In two dimensions, we relate the displacement operator, which appears among the contact terms, to the reflection coefficient of a conformal interface, and we find unitarity bounds for the latter.

Defects in conformal field theory

Energy Technology Data Exchange (ETDEWEB)

Billò, Marco [Dipartimento di Fisica, Università di Torino, and Istituto Nazionale di Fisica Nucleare - sezione di Torino,Via P. Giuria 1 I-10125 Torino (Italy); Gonçalves, Vasco [Centro de Física do Porto,Departamento de Física e Astronomia Faculdade de Ciências da Universidade do Porto, Rua do Campo Alegre 687, 4169-007 Porto (Portugal); ICTP South American Institute for Fundamental Research Instituto de Física Teórica,UNESP - University Estadual Paulista,Rua Dr. Bento T. Ferraz 271, 01140-070, São Paulo, SP (Brazil); Lauria, Edoardo [Institute for Theoretical Physics, KU Leuven, Celestijnenlaan 200D, B-3001 Leuven (Belgium); Meineri, Marco [Perimeter Institute for Theoretical Physics,Waterloo, Ontario, N2L 2Y5 (Canada); Scuola Normale Superiore, and Istituto Nazionale di Fisica Nucleare - sezione di Pisa,Piazza dei Cavalieri 7 I-56126 Pisa (Italy)

2016-04-15

We discuss consequences of the breaking of conformal symmetry by a flat or spherical extended operator. We adapt the embedding formalism to the study of correlation functions of symmetric traceless tensors in the presence of the defect. Two-point functions of a bulk and a defect primary are fixed by conformal invariance up to a set of OPE coefficients, and we identify the allowed tensor structures. A correlator of two bulk primaries depends on two cross-ratios, and we study its conformal block decomposition in the case of external scalars. The Casimir equation in the defect channel reduces to a hypergeometric equation, while the bulk channel blocks are recursively determined in the light-cone limit. In the special case of a defect of codimension two, we map the Casimir equation in the bulk channel to the one of a four-point function without defect. Finally, we analyze the contact terms of the stress-tensor with the extended operator, and we deduce constraints on the CFT data. In two dimensions, we relate the displacement operator, which appears among the contact terms, to the reflection coefficient of a conformal interface, and we find unitarity bounds for the latter.

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.

Science.gov (United States)

Cleynen, Isabelle; Boucher, Gabrielle; Jostins, Luke; Schumm, L Philip; Zeissig, Sebastian; Ahmad, Tariq; Andersen, Vibeke; Andrews, Jane M; Annese, Vito; Brand, Stephan; Brant, Steven R; Cho, Judy H; Daly, Mark J; Dubinsky, Marla; Duerr, Richard H; Ferguson, Lynnette R; Franke, Andre; Gearry, Richard B; Goyette, Philippe; Hakonarson, Hakon; Halfvarson, Jonas; Hov, Johannes R; Huang, Hailang; Kennedy, Nicholas A; Kupcinskas, Limas; Lawrance, Ian C; Lee, James C; Satsangi, Jack; Schreiber, Stephan; Théâtre, Emilie; van der Meulen-de Jong, Andrea E; Weersma, Rinse K; Wilson, David C; Parkes, Miles; Vermeire, Severine; Rioux, John D; Mansfield, John; Silverberg, Mark S; Radford-Smith, Graham; McGovern, Dermot P B; Barrett, Jeffrey C; Lees, Charlie W

2016-01-09

Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases. This study included patients from 49 centres in 16 countries in Europe, North America, and Australasia. We applied the Montreal classification system of inflammatory bowel disease subphenotypes to 34,819 patients (19,713 with Crohn's disease, 14,683 with ulcerative colitis) genotyped on the Immunochip array. We tested for genotype-phenotype associations across 156,154 genetic variants. We generated genetic risk scores by combining information from all known inflammatory bowel disease associations to summarise the total load of genetic risk for a particular phenotype. We used these risk scores to test the hypothesis that colonic Crohn's disease, ileal Crohn's disease, and ulcerative colitis are all genetically distinct from each other, and to attempt to identify patients with a mismatch between clinical diagnosis and genetic risk profile. After quality control, the primary analysis included 29,838 patients (16,902 with Crohn's disease, 12,597 with ulcerative colitis). Three loci (NOD2, MHC, and MST1 3p21) were associated with subphenotypes of inflammatory bowel disease, mainly disease location (essentially fixed over time; median follow-up of 10·5 years). Little or no genetic association with disease behaviour (which changed dramatically over time) remained after conditioning on disease location and age at onset. The genetic risk score representing all known risk alleles for inflammatory bowel disease showed strong association with

Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects

International Nuclear Information System (INIS)

Kim, Jinna; Lee, Seung-Koo; Kim, Dong Ik; Kim, Eung Yeop; Lee, Young-Mock; Lee, Joon Soo; Kim, Heung Dong

2008-01-01

Mitochondrial disorders are a heterogeneous group of disorders affecting energy metabolism that can present at any age with a wide variety of clinical symptoms. We investigated brain magnetic resonance (MR) findings in 40 children with defects of the mitochondrial respiratory chain (MRC) complex and correlated them with the type of MRC defects. Enrolled were 40 children with MRC defects in biochemical enzyme assay of the muscle specimen. Twenty-one children were found to have classical syndromes of mitochondrial disorders and 19 children presented nonspecific mitochondrial encephalomyopathies. Their brain MR imaging findings were retrospectively reviewed and correlated with the biochemical defect in the MRC complex. Children with MRC defects showed various neuroradiologic features on brain MR imaging that resulted from a complex genetic background and a heterogeneous phenotype. Rapid progression of atrophy involving all structures of the brain with variable involvement of deep gray and white matter are the most frequent MR findings in children with MRC defects in both classical syndromes of mitochondrial disorder and nonspecific mitochondrial encephalomyopathies. The type of biochemical defect in the MRC complex enzyme did not correlate with brain MR findings in child patients. (orig.)

Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects

Energy Technology Data Exchange (ETDEWEB)

Kim, Jinna; Lee, Seung-Koo; Kim, Dong Ik [Yonsei University College of Medicine, Department of Radiology, Research Institute of Radiological Science, Seoul (Korea); Kim, Eung Yeop [Yonsei University College of Medicine, Department of Radiology, Research Institute of Radiological Science, Brain Korea 21 Project for Medical Science, Seoul (Korea); Lee, Young-Mock; Lee, Joon Soo [Yonsei University College of Medicine, Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children' s Hospital, Brain Research Institute, Seoul (Korea); Kim, Heung Dong [Yonsei University College of Medicine, Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children' s Hospital, Brain Research Institute, Seoul (Korea); Yonsei University College of Medicine, Department of Pediatrics, Seoul (Korea)

2008-08-15

Mitochondrial disorders are a heterogeneous group of disorders affecting energy metabolism that can present at any age with a wide variety of clinical symptoms. We investigated brain magnetic resonance (MR) findings in 40 children with defects of the mitochondrial respiratory chain (MRC) complex and correlated them with the type of MRC defects. Enrolled were 40 children with MRC defects in biochemical enzyme assay of the muscle specimen. Twenty-one children were found to have classical syndromes of mitochondrial disorders and 19 children presented nonspecific mitochondrial encephalomyopathies. Their brain MR imaging findings were retrospectively reviewed and correlated with the biochemical defect in the MRC complex. Children with MRC defects showed various neuroradiologic features on brain MR imaging that resulted from a complex genetic background and a heterogeneous phenotype. Rapid progression of atrophy involving all structures of the brain with variable involvement of deep gray and white matter are the most frequent MR findings in children with MRC defects in both classical syndromes of mitochondrial disorder and nonspecific mitochondrial encephalomyopathies. The type of biochemical defect in the MRC complex enzyme did not correlate with brain MR findings in child patients. (orig.)

Point defects dynamics in a stress field

International Nuclear Information System (INIS)

Smetniansky de De Grande, Nelida.

1989-01-01

The dependence of anisotropic defect diffusion on stress is studied for a hexagonal close packed (hcp) material under irradiation and uniaxially stressed. The diffusion is described as a discrete process of thermally activated jumps. It is shown that the presence of an external stress field enhances the intrinsic anisotropic diffusion, being this variation determined by the defect dipole tensors' symmetry in the equilibrium and saddle point configurations. Also, the point defect diffusion equations to sinks, like edge dislocations and spherical cavities, are solved and the sink strengths are calculated. The conclusion is that the dynamics of the interaction between defects and sinks is controlled by the changes in diffusivity induced by stress fields. (Author) [es

Defect-impurity interactions in irradiated germanium

International Nuclear Information System (INIS)

Cleland, J.W.; James, F.J.; Westbrook, R.D.

1975-07-01

Results of experiments are used to formulate a better model for the structures of lattice defects and defect-impurity complexes in irradiated n-type Ge. Single crystals were grown by the Czochralski process from P, As, or Sb-doped melts, and less than or equal to 10 15 to greater than or equal to 10 17 oxygen cm -3 was added to the furnace chamber after approximately 1 / 3 of the crystal had been solidified. Hall coefficient and resistivity measurements (at 77 0 K) were used to determine the initial donor concentration due to the dopant and clustered oxygen, and infrared absorption measurements (at 11.7 μ) were used to determine the dissociated oxygen concentration. Certain impurity and defect-impurity interactions were then investigated that occurred as a consequence of selected annealing, quenching, Li diffusion, and irradiation experiments at approximately 300 0 K with 60 Co photons, 1.5 to 2.0 MeV electrons, or thermal energy neutrons. Particular attention was given to determining the electrical role of the irradiation produced interstitial and vacancy, and to look for any evidence from electrical and optical measurements of vacancy--oxygen, lithium--oxygen, and lithium--vacancy interactions. (U.S.)

Intelligence : shared genetic basis between Mendelian disorders and a polygenic trait

NARCIS (Netherlands)

Franić, Sanja; Groen-Blokhuis, Maria M; Dolan, Conor V; Kattenberg, Mathijs V; Pool, René; Xiao, Xiangjun; Scheet, Paul A; Ehli, Erik A; Davies, Gareth E; van der Sluis, Sophie; Abdellaoui, Abdel; Hansell, Narelle K; Martin, Nicholas G; Hudziak, James J; van Beijsterveldt, Catherina E M; Swagerman, Suzanne C; Hulshoff Pol, Hilleke E; de Geus, Eco J C; Bartels, Meike; Ropers, H Hilger; Hottenga, Jouke-Jan; Boomsma, Dorret I

2015-01-01

Multiple inquiries into the genetic etiology of human traits indicated an overlap between genes underlying monogenic disorders (eg, skeletal growth defects) and those affecting continuous variability of related quantitative traits (eg, height). Extending the idea of a shared genetic basis between a

Defective Reduction in Frozen Pie Manufacturing Process

Science.gov (United States)

Nooted, Oranuch; Tangjitsitcharoen, Somkiat

2017-06-01

The frozen pie production has a lot of defects resulting in high production cost. Failure mode and effect analysis (FMEA) technique has been applied to improve the frozen pie process. Pareto chart is also used to determine the major defects of frozen pie. There are 3 main processes that cause the defects which are the 1st freezing to glazing process, the forming process, and the folding process. The Risk Priority Number (RPN) obtained from FMEA is analyzed to reduce the defects. If RPN of each cause exceeds 45, the process will be considered to be improved and selected for the corrective and preventive actions. The results showed that RPN values decreased after the correction. Therefore, the implementation of FMEA technique can help to improve the performance of frozen pie process and reduce the defects approximately 51.9%.

Congenital Heart Defects and Receipt of Special Education Services.

Science.gov (United States)

Riehle-Colarusso, Tiffany; Autry, Andrew; Razzaghi, Hilda; Boyle, Coleen A; Mahle, William T; Van Naarden Braun, Kim; Correa, Adolfo

2015-09-01

We investigated the prevalence of receipt of special education services among children with congenital heart defects (CHDs) compared with children without birth defects. Children born from 1982 to 2004 in metropolitan Atlanta with CHDs (n = 3744) were identified from a population-based birth defect surveillance program; children without birth defects (n = 860 715) were identified from birth certificates. Cohorts were linked to special education files for the 1992-2012 school years to identify special education services. Children with noncardiac defects or genetic syndromes were excluded; children with CHDs were classified by presence or absence of critical CHDs (ie, CHDs requiring intervention by age one year). We evaluated the prevalence of receipt of special education services and prevalence rate ratios using children without birth defects as a reference. Compared with children without birth defects, children with CHDs were 50% more likely to receive special education services overall (adjusted prevalence rate ratio [aPRR] = 1.5; 95% confidence interval [CI]: 1.4-1.7). Specifically, they had higher prevalence of several special education categories including: intellectual disability (aPRR = 3.8; 95% CI: 2.8-5.1), sensory impairment (aPRR = 3.0; 95% CI: 1.8-5.0), other health impairment (aPRR = 2.8; 95% CI: 2.2-3.5), significant developmental delay (aPRR = 1.9; 95% CI: 1.3-2.8), and specific learning disability (aPRR = 1.4; 95% CI: 1.1-1.7). For most special education services, the excess prevalence did not vary by presence of critical CHDs. Children with CHDs received special education services more often than children without birth defects. These findings highlight the need for special education services and the importance of developmental screening for all children with CHDs. Copyright © 2015 by the American Academy of Pediatrics.

Point defect relaxation volumes for copper

International Nuclear Information System (INIS)

Miller, K.M.

1979-11-01

The methods used for the determination of point defect relaxation volumes are discussed and it is shown that a previous interatomic potential derived for copper is inaccurate and results obtained using it are invalid. A new interatomic potential has been produced for copper and a computer simulation of point and planar defects carried out. A vacancy relaxation volume of -0.33 atomic volumes has been found with interstitial values in the range 1.7 to 2.0 atomic volumes. It is shown that these values in current theories of irradiation induced swelling lead to an anomalously high value for dislocation bias compared with that determined experimentally. (author)

Knowledge of Genetics and Attitudes toward Genetic Testing among College Students in Saudi Arabia.

Science.gov (United States)

Olwi, Duaa; Merdad, Leena; Ramadan, Eman

2016-01-01

Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses the knowledge of genetics and attitudes toward genetic testing among college students. A cross-sectional study was conducted using a multistage stratified sample of 920 senior college students enrolled at King Abdulaziz University, Saudi Arabia. Information regarding knowledge of genetics, attitudes toward genetic testing, and sociodemographic data were collected using a self-administered questionnaire. In general, students had a good knowledge of genetics but lacked some fundamentals of genetics. The majority of students showed positive attitudes toward genetic testing, but some students showed negative attitudes toward certain aspects of genetic testing such as resorting to abortion in the case of an untreatable major genetic defect in an unborn fetus. The main significant predictors of knowledge were faculty, gender, academic year, and some prior awareness of 'genetic testing'. The main significant predictors of attitudes were gender, academic year, grade point average, and some prior awareness of 'genetic testing'. The knowledge of genetics among college students was higher than has been reported in other studies, and the attitudes toward genetic testing were fairly positive. Genetics educational programs that target youths may improve knowledge of genetics and create a public perception that further supports genetic testing. © 2016 S. Karger AG, Basel.

Genetics Home Reference: Griscelli syndrome

Science.gov (United States)

... Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect ( ... N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A ... syndrome associated with haemophagocytic syndrome. Nat Genet. 2000 Jun; ...

[Folic acid: Primary prevention of neural tube defects. Literature Review].

Science.gov (United States)

Llamas Centeno, M J; Miguélez Lago, C

2016-03-01

Neural tube defects (NTD) are the most common congenital malformations of the nervous system, they have a multifactorial etiology, are caused by exposure to chemical, physical or biological toxic agents, factors deficiency, diabetes, obesity, hyperthermia, genetic alterations and unknown causes. Some of these factors are associated with malnutrition by interfering with the folic acid metabolic pathway, the vitamin responsible for neural tube closure. Its deficit produce anomalies that can cause abortions, stillbirths or newborn serious injuries that cause disability, impaired quality of life and require expensive treatments to try to alleviate in some way the alterations produced in the embryo. Folic acid deficiency is considered the ultimate cause of the production of neural tube defects, it is clear the reduction in the incidence of Espina Bifida after administration of folic acid before conception, this leads us to want to further study the action of folic acid and its application in the primary prevention of neural tube defects. More than 40 countries have made the fortification of flour with folate, achieving encouraging data of decrease in the prevalence of neural tube defects. This paper attempts to make a literature review, which clarify the current situation and future of the prevention of neural tube defects.

A case report of truncus arteriosus communis and genetic counseling

Directory of Open Access Journals (Sweden)

Gholamreza Nourzad

2013-06-01

Full Text Available BACKGROUND: Truncus arteriosus communis (TAC is a rare heart disorder with the prevalence of approximately 1%, mostly in male newborns. In this disease, aorta and pulmonary artery have not been separated during fetus development and both originate jointly from left ventricle. In addition, various disorders are reported like ventricular septal defect (VSD, mitral and tricuspid valves defects, aortic septal defect (ASD, reduction of lung and lung vessels’ resistance, pulmonary hypertension, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot. CASR REPORT: Parents of deceased patient were referred for genetic counseling after the death of third girl due to severe cardiac disorder. Cardiologist declared the disease in deceased girl as TAC based on findings along with VSD, ASD and hypoplastic aortic arch which resulted to death in the first day of birth. CONCLUSION: There was no chromosomal disorder in chromosome analysis of patient’ skin. Parents were interested to have another child, so they were referred to university's Genetic Counseling Center to become aware of their next child’s condition. This disorder is genetically heterogeneous and multifactorial and because all external factors are not recognized, the accurate estimation of risk is not possible and the probability of risk for the next child is about 10% to 20%.   Keywords: Heart Disorder, Truncus Arteriosus Communis, Genetic Counseling 

Probing graphene defects and estimating graphene quality with optical microscopy

International Nuclear Information System (INIS)

Lai, Shen; Kyu Jang, Sung; Jae Song, Young; Lee, Sungjoo

2014-01-01

We report a simple and accurate method for detecting graphene defects that utilizes the mild, dry annealing of graphene/Cu films in air. In contrast to previously reported techniques, our simple approach with optical microscopy can determine the density and degree of dislocation of defects in a graphene film without inducing water-related damage or functionalization. Scanning electron microscopy, confocal Raman and atomic force microscopy, and X-ray photoelectron spectroscopy analysis were performed to demonstrate that our nondestructive approach to characterizing graphene defects with optimized thermal annealing provides rapid and comprehensive determinations of graphene quality

STARL -- a Program to Correct CCD Image Defects

Science.gov (United States)

Narbutis, D.; Vanagas, R.; Vansevičius, V.

We present a program tool, STARL, designed for automatic detection and correction of various defects in CCD images. It uses genetic algorithm for deblending and restoring of overlapping saturated stars in crowded stellar fields. Using Subaru Telescope Suprime-Cam images we demonstrate that the program can be implemented in the wide-field survey data processing pipelines for production of high quality color mosaics. The source code and examples are available at the STARL website.

Strip defect recognition in electrical tests of silicon microstrip sensors

Energy Technology Data Exchange (ETDEWEB)

Valentan, Manfred, E-mail: valentan@mpp.mpg.de

2017-02-11

This contribution describes the measurement procedure and data analysis of AC-coupled double-sided silicon microstrip sensors with polysilicon resistor biasing. The most thorough test of a strip sensor is an electrical measurement of all strips of the sensor; the measured observables include e.g. the strip's current and the coupling capacitance. These measurements are performed to find defective strips, e.g. broken capacitors (pinholes) or implant shorts between two adjacent strips. When a strip has a defect, its observables will show a deviation from the “typical value”. To recognize and quantify certain defects, it is necessary to determine these typical values, i.e. the values the observables would have without the defect. As a novel approach, local least-median-of-squares linear fits are applied to determine these “would-be” values of the observables. A least-median-of-squares fit is robust against outliers, i.e. it ignores the observable values of defective strips. Knowing the typical values allows to recognize, distinguish and quantify a whole range of strip defects. This contribution explains how the various defects appear in the data and in which order the defects can be recognized. The method has been used to find strip defects on 30 double-sided trapezoidal microstrip sensors for the Belle II Silicon Vertex Detector, which have been measured at the Institute of High Energy Physics, Vienna (Austria).

Genetic Determinism vs. Phenotypic Plasticity in Protist Morphology

Czech Academy of Sciences Publication Activity Database

Mulot, M.; Marcisz, K.; Grandgirard, L.; Lara, E.; Kosakyan, Anush; Robroek, B. J. M.; Lamentowicz, M.; Payne, R. J.; Mitchell, E.A.D.

2017-01-01

Roč. 64, č. 6 (2017), s. 729-739 ISSN 1066-5234 Institutional support: RVO:60077344 Keywords : Body size * protozoa * soil moisture * testate amoebae * water table depth Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 2.692, year: 2016

Genetic testing in congenital heart disease:A clinical approach

Institute of Scientific and Technical Information of China (English)

Marie A Chaix; Gregor Andelfinger; Paul Khairy

2016-01-01

Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel.

[The emphases and basic procedures of genetic counseling in psychotherapeutic model].

Science.gov (United States)

Zhang, Yuan-Zhi; Zhong, Nanbert

2006-11-01

The emphases and basic procedures of genetic counseling are all different with those in old models. In the psychotherapeutic model, genetic counseling will not only focus on counselees' genetic disorders and birth defects, but also their psychological problems. "Client-centered therapy" termed by Carl Rogers plays an important role in genetic counseling process. The basic procedures of psychotherapeutic model of genetic counseling include 7 steps: initial contact, introduction, agendas, inquiry of family history, presenting information, closing the session and follow-up.

Genetically Determined Height and Coronary Artery Disease

NARCIS (Netherlands)

Nelson, Christopher P.; Hamby, Stephen E.; Saleheen, Danish; Hopewell, Jenna C.; Zeng, Lingyao; Assimes, Themistocles L.; Kanoni, Stavroula; Willenborg, Christina; Burgess, Stephen; Amouyel, Phillipe; Anand, Sonia; Blankenberg, Stefan; Boehm, Bernhard O.; Clarke, Robert J.; Collins, Rory; Dedoussis, George; Farrall, Martin; Franks, Paul W.; Groop, Leif; Hall, Alistair S.; Hamsten, Anders; Hengstenberg, Christian; Hovingh, G. Kees; Ingelsson, Erik; Kathiresan, Sekar; Kee, Frank; König, Inke R.; Kooner, Jaspal; Lehtimäki, Terho; März, Winifred; McPherson, Ruth; Metspalu, Andres; Nieminen, Markku S.; O'Donnell, Christopher J.; Palmer, Colin N. A.; Peters, Annette; Perola, Markus; Reilly, Muredach P.; Ripatti, Samuli; Roberts, Robert; Salomaa, Veikko; Shah, Svati H.; Schreiber, Stefan; Siegbahn, Agneta; Thorsteinsdottir, Unnur; Veronesi, Giovani; Wareham, Nicholas; Willer, Cristen J.; Zalloua, Pierre A.; Erdmann, Jeanette

2015-01-01

BACKGROUND The nature and underlying mechanisms of an inverse association between adult height and the risk of coronary artery disease (CAD) are unclear. METHODS We used a genetic approach to investigate the association between height and CAD, using 180 height-associated genetic variants. We tested

Birth Defects

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A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of ... in the United States is born with a birth defect. A birth defect may affect how the ...

Diffuse scattering from crystals with point defects

International Nuclear Information System (INIS)

Andrushevsky, N.M.; Shchedrin, B.M.; Simonov, V.I.; Malakhova, L.F.

2002-01-01

The analytical expressions for calculating the intensities of X-ray diffuse scattering from a crystal of finite dimensions and monatomic substitutional, interstitial, or vacancy-type point defects have been derived. The method for the determination of the three-dimensional structure by experimental diffuse-scattering data from crystals with point defects having various concentrations is discussed and corresponding numerical algorithms are suggested

Genetic aspects of hypothalamic and pituitary gland development.

Science.gov (United States)

McCabe, Mark J; Dattani, Mehul T

2014-01-01

Hypothalamo-pituitary development during embryogenesis is a highly complex process involving the interaction of a network of spatiotemporally regulated signaling molecules and transcription factors. Mutations in any of the genes encoding these components can lead to congenital hypopituitarism, which is often associated with a wide spectrum of defects affecting craniofacial/midline development. In turn, these defects can be incompatible with life, or lead to disorders encompassing holoprosencephaly (HPE) and cleft palate, and septo-optic dysplasia (SOD). In recent years, there has been increasing evidence of an overlapping genotype between this spectrum of disorders and Kallmann syndrome (KS), defined as the association of hypogonadotropic hypogonadism (HH) and anosmia. This is consistent with the known phenotypic overlap between these disorders and opens a new avenue of identifying novel genetic causes of the hypopituitarism spectrum. This chapter reviews the genetic and molecular events leading to the successful development of the hypothalamo-pituitary axis during embryogenesis, and focuses on genes in which variations/mutations occur, leading to congenital hypopituitarism and associated defects. © 2014 Elsevier B.V. All rights reserved.

A review of genome-wide approaches to study the genetic basis for spermatogenic defects.

Science.gov (United States)

Aston, Kenneth I; Conrad, Donald F

2013-01-01

Rapidly advancing tools for genetic analysis on a genome-wide scale have been instrumental in identifying the genetic bases for many complex diseases. About half of male infertility cases are of unknown etiology in spite of tremendous efforts to characterize the genetic basis for the disorder. Advancing our understanding of the genetic basis for male infertility will require the application of established and emerging genomic tools. This chapter introduces many of the tools available for genetic studies on a genome-wide scale along with principles of study design and data analysis.

The determination factors of left-right asymmetry disorders- a short review.

Science.gov (United States)

Catana, Andreea; Apostu, Adina Patricia

2017-01-01

Laterality defects in humans, situs inversus and heterotaxy, are rare disorders, with an incidence of 1:8000 to 1:10 000 in the general population, and a multifactorial etiology. It has been proved that 1.44/10 000 of all cardiac problems are associated with malformations of left-right asymmetry and heterotaxy accounts for 3% of all congenital heart defects. It is considered that defects of situs appear due to genetic and environmental factors. Also, there is evidence that the ciliopathies (defects of structure or function) are involved in development abnormalities. Over 100 genes have been reported to be involved in left-right patterning in model organisms, but only a few are likely to candidate for left-right asymmetry defects in humans. Left-right asymmetry disorders are genetically heterogeneous and have variable manifestations (from asymptomatic to serious clinical problems). The discovery of the right mechanism of left-right development will help explain the clinical complexity and may contribute to a therapy of these disorders.

Intrinsic Defects and H Doping in WO3

KAUST Repository

Zhu, Jiajie

2017-01-18

WO3 is widely used as industrial catalyst. Intrinsic and/or extrinsic defects can tune the electronic properties and extend applications to gas sensors and optoelectonics. However, H doping is a challenge to WO3, the relevant mechanisms being hardly understood. In this context, we investigate intrinsic defects and H doping by density functional theory and experiments. Formation energies are calculated to determine the lowest energy defect states. O vacancies turn out to be stable in O-poor environment, in agreement with X-ray photoelectron spectroscopy, and O-H bond formation of H interstitial defects is predicted and confirmed by Fourier transform infrared spectroscopy.

Positron annihilation spectroscopy in defects of semiconductors

CERN Document Server

Fujinami, M

2002-01-01

Interaction of positron and defects, application to research of defects of semiconductor and defects on the surface of semiconductor are explained. Cz (Czochralski)-Si single crystal with 10 sup 1 sup 8 cm sup - sup 3 impurity oxygen was introduced defects by electron irradiation and the positron lifetime was measured at 90K after annealing. The defect size and recovery temperature were determined by the lifetime measurement. The distribution of defects in the depth direction is shown by S-E curve. The chemical state analysis is possible by CBS (Coincidence Doppler Broadening) spectra. The application to silicon-implanted (100 keV, 2x10 sup 1 sup 5 cm sup - sup 2) silicon and oxygen-implanted (180 keV, 2x10 sup 1 sup 5 cm sup - sup 2) silicon are stated. On the oxygen-implanted silicon, the main product was V2 after implantation, V sub 6 O sub 2 at 600degC and V sub 1 sub 0 O sub 6 at 800degC. (S.Y.)

Application of Volta potential mapping to determine metal surface defects

International Nuclear Information System (INIS)

Nazarov, A.; Thierry, D.

2007-01-01

As a rule, stress or fatigue cracks originate from various surface imperfections, such as pits, inclusions or locations showing a residual stress. It would be very helpful for material selection to be able to predict the likelihood of environment-assisted cracking or pitting corrosion. By using Scanning Kelvin Probe (the vibrating capacitor with a spatial resolution of 80 μm) the profiling of metal electron work function (Volta potential) in air is applied to the metal surfaces showing residual stress, MnS inclusions and wearing. The Volta potential is influenced by the energy of electrons at the Fermi level and drops generally across the metal/oxide/air interfaces. Inclusions (e.g. MnS) impair continuity of the passive film that locally decreases Volta potential. The stress applied gives rise to dislocations, microcracks and vacancies in the metal and the surface oxide. The defects decrease Volta and corrosion potentials; reduce the overvoltage for processes of passivity breakdown and anodic metal dissolution. These 'anodic' defects can be visualized in potential mapping that can help us to predict locations with higher risk of pitting corrosion or cracking

Defect networks and supersymmetric loop operators

Energy Technology Data Exchange (ETDEWEB)

Bullimore, Mathew [Perimeter Institute for Theoretical Physics, 31 Caroline Street North, Waterloo, ON N2L 2Y5 (Canada)

2015-02-10

We consider topological defect networks with junctions in A{sub N−1} Toda CFT and the connection to supersymmetric loop operators in N=2 theories of class S on a four-sphere. Correlation functions in the presence of topological defect networks are computed by exploiting the monodromy of conformal blocks, generalising the notion of a Verlinde operator. Concentrating on a class of topological defects in A{sub 2} Toda theory, we find that the Verlinde operators generate an algebra whose structure is determined by a set of generalised skein relations that encode the representation theory of a quantum group. In the second half of the paper, we explore the dictionary between topological defect networks and supersymmetric loop operators in the N=2{sup ∗} theory by comparing to exact localisation computations. In this context, the the generalised skein relations are related to the operator product expansion of loop operators.

Exploration of genetically determined resistance against hepatitis C infection in high-risk injecting drug users.

Science.gov (United States)

Sugden, P B; Cameron, B; Luciani, F; Lloyd, A R

2014-08-01

Genetic resistance to specific infections is well recognized. In hepatitis C virus (HCV) infection, genetic polymorphisms in IL-28B and the killer cell immunoglobulin-like receptors (KIR) and their HLA class I ligands have been shown to affect clearance of the virus following infection. There are limited data regarding resistance to established HCV infection. Reliable quantification of repeated exposure in high-risk populations, such as injecting drug users (IDU), is a key limitation of previous studies of resistance. Behavioural data and DNA from IDU (n = 210) in the Hepatitis C Incidence and Transmission Study in prisons (HITS-p) cohort were genotyped for polymorphisms in: IL-28B, peptidyl-prolyl isomerase A (PPIA), HLA-C and KIR2. To quantify risk, a composite risk index based on factors predictive of incident HCV infection was derived. Logistic regression analysis revealed the risk index was strongly associated with incident HCV infection (P C1, or their combination. A framework for the investigation of genetic determinants of resistance to HCV infection has been developed. Several candidate gene associations were investigated and excluded. Further investigation of genetic determinants of resistance to HCV infection is warranted. © 2014 John Wiley & Sons Ltd.

Genetic determinants of LDL, lipoprotein(a), triglyceride-rich lipoproteins and HDL: concordance and discordance with cardiovascular disease risk

DEFF Research Database (Denmark)

Nordestgaard, Børge G; Tybjærg-Hansen, Anne

2011-01-01

To evaluate whether new and known genetic determinants of plasma levels of LDL cholesterol, lipoprotein(a), triglyceride-rich lipoproteins, and HDL cholesterol associate with the risk of cardiovascular disease expected from the effect on lipoprotein levels. Concordance or discordance...... of such genetic determinants with cardiovascular disease risk will either favor or disfavor that these lipoproteins are causally related to cardiovascular disease....

Xenon Defects in Uranium Dioxide From First Principles and Interatomic Potentials

Science.gov (United States)

Thompson, Alexander

In this thesis, we examine the defect energetics and migration energies of xenon atoms in uranium dioxide (UO2) from first principles and interatomic potentials. We also parameterize new, accurate interatomic potentials for xenon and uranium dioxide. To achieve accurate energetics and provide a foundation for subsequent calculations, we address difficulties in finding consistent energetics within Hubbard U corrected density functional theory (DFT+U). We propose a method of slowly ramping the U parameter in order to guide the calculation into low energy orbital occupations. We find that this method is successful for a variety of materials. We then examine the defect energetics of several noble gas atoms in UO2 for several different defect sites. We show that the energy to incorporate large noble gas atoms into interstitial sites is so large that it is energetically favorable for a Schottky defect cluster to be created to relieve the strain. We find that, thermodynamically, xenon will rarely ever be in the interstitial site of UO2. To study larger defects associated with the migration of xenon in UO 2, we turn to interatomic potentials. We benchmark several previously published potentials against DFT+U defect energetics and migration barriers. Using a combination of molecular dynamics and nudged elastic band calculations, we find a new, low energy migration pathway for xenon in UO2. We create a new potential for xenon that yields accurate defect energetics. We fit this new potential with a method we call Iterative Potential Refinement that parameterizes potentials to first principles data via a genetic algorithm. The potential finds accurate energetics for defects with relatively low amounts of strain (xenon in defect clusters). It is important to find accurate energetics for these sorts of low-strain defects because they essentially represent small xenon bubbles. Finally, we parameterize a new UO2 potential that simultaneously yields accurate vibrational properties

The role of point defects and defect complexes in silicon device processing. Summary report and papers

Energy Technology Data Exchange (ETDEWEB)

Sopori, B.; Tan, T.Y.

1994-08-01

This report is a summary of a workshop hold on August 24--26, 1992. Session 1 of the conference discussed characteristics of various commercial photovoltaic silicon substrates, the nature of impurities and defects in them, and how they are related to the material growth. Session 2 on point defects reviewed the capabilities of theoretical approaches to determine equilibrium structure of defects in the silicon lattice arising from transitional metal impurities and hydrogen. Session 3 was devoted to a discussion of the surface photovoltaic method for characterizing bulk wafer lifetimes, and to detailed studies on the effectiveness of various gettering operations on reducing the deleterious effects of transition metals. Papers presented at the conference are also included in this summary report.

Determination of interrill soil erodibility coefficient based on Fuzzy and Fuzzy-Genetic Systems

Directory of Open Access Journals (Sweden)

Habib Palizvan Zand

2017-02-01

Full Text Available Introduction: Although the fuzzy logic science has been used successfully in various sudies of hydrology and soil erosion, but in literature review no article was found about its performance for estimating of interrill erodibility. On the other hand, studies indicate that genetic algorithm techniques can be used in fuzzy models and finding the appropriate membership functions for linguistic variables and fuzzy rules. So this study was conducted to develop the fuzzy and fuzzy–genetics models and investigation of their performance in the estimation of soil interrill erodibility factor (Ki. Materials and Methods: For this reason 36 soil samples with different physical and chemical properties were collected from west of Azerbaijan province . soilsamples were also taken from the Ap or A horizon of each soil profile. The samples were air-dried , sieved and Some soil characteristics such as soil texture, organic matter (OM, cation exchange capacity (CEC, sodium adsorption ratio (SAR, EC and pH were determined by the standard laboratory methods. Aggregates size distributions (ASD were determined by the wet-sieving method and fractal dimension of soil aggregates (Dn was also calculated. In order to determination of soil interrill erodibility, the flume experiment performed by packing soil a depth of 0.09-m in 0.5 × 1.0 m. soil was saturated from the base and adjusted to 9% slope and was subjected to at least 90 min rainfall . Rainfall intensity treatments were 20, 37 and 47 mm h-1. During each rainfall event, runoff was collected manually in different time intervals, being less than 60 s at the beginning, up to 15 min near the end of the test. At the end of the experiment, the volumes of runoff samples and the mass of sediment load at each time interval were measured. Finally interrill erodibility values were calculated using Kinnell (11 Equation. Then by statistical analyses Dn and sand percent of the soils were selected as input variables and Ki as

Testing and analysis of internal hardwood log defect prediction models

Science.gov (United States)

R. Edward Thomas

2011-01-01

The severity and location of internal defects determine the quality and value of lumber sawn from hardwood logs. Models have been developed to predict the size and position of internal defects based on external defect indicator measurements. These models were shown to predict approximately 80% of all internal knots based on external knot indicators. However, the size...

Genetics of human body size and shape: pleiotropic and independent genetic determinants of adiposity.

Science.gov (United States)

Livshits, G; Yakovenko, K; Ginsburg, E; Kobyliansky, E

1998-01-01

The present study utilized pedigree data from three ethnically different populations of Kirghizstan, Turkmenia and Chuvasha. Principal component analysis was performed on a matrix of genetic correlations between 22 measures of adiposity, including skinfolds, circumferences and indices. Findings are summarized as follows: (1) All three genetic matrices were not positive definite and the first four factors retained even after exclusion RG > or = 1.0, explained from 88% to 97% of the total additive genetic variation in the 22 trials studied. This clearly emphasizes the massive involvement of pleiotropic gene effects in the variability of adiposity traits. (2) Despite the quite natural differences in pairwise correlations between the adiposity traits in the three ethnically different samples under study, factor analysis revealed a common basic pattern of covariability for the adiposity traits. In each of the three samples, four genetic factors were retained, namely, the amount of subcutaneous fat, the total body obesity, the pattern of distribution of subcutaneous fat and the central adiposity distribution. (3) Genetic correlations between the retained four factors were virtually non-existent, suggesting that several independent genetic sources may be governing the variation of adiposity traits. (4) Variance decomposition analysis on the obtained genetic factors leaves no doubt regarding the substantial familial and (most probably genetic) effects on variation of each factor in each studied population. The similarity of results in the three different samples indicates that the findings may be deemed valid and reliable descriptions of the genetic variation and covariation pattern of adiposity traits in the human species.

New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

Directory of Open Access Journals (Sweden)

Chun-Kai Chen

2014-06-01

Full Text Available Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body or embryos (blastomeres or trophectoderm cells in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows

Genetics Home Reference: congenital bile acid synthesis defect type 1

Science.gov (United States)

... result in softening and weakening of the bones ( rickets ) in some individuals. If left untreated, congenital bile ... Encyclopedia: Cholestasis Health Topic: Liver Diseases Health Topic: Rickets Genetic and Rare Diseases Information Center (1 link) ...

Preventive program of birth defects: incidence of anencephaly in Maracaibo, Venezuela. 1993-1996 period

International Nuclear Information System (INIS)

Moreno Fuenmayor, H; Valera, V; Socorro Candanoza, L; Bracho, A; Herrera, M; Rodriguez, Z; Concho, E

1996-01-01

Incidence of anencephaly in the State of Zulia, and specifically in the Eastern Coast of Lake Maracaibo, an oil exploitation area, has been declared high since the beginning of the 80's, coincident with the generalized use of ultrasound as a diagnostic tool for fetal evaluation. Through the Birth Defects Preventive Program, established at the Hospital Chiquinquira in Maracaibo, we have developed a fourfold strategy for the study of birth defects: i) analysis of more than 32,332 ultrasound evaluations within the Ultrasound Service, between 1993 and 1996, ii) a case-control malformation registry beginning in 1995, iii) a study of malformed stillbirths at the Pathology Service, observed after 4232 deliveries within this hospital, and iv) a registry of over 638 mothers with high risk pregnancy for fetal defects detected at the prenatal clinic and carried out at the Perinatal Medical Genetics Service. As a reference population we study 345 medical histories obtained from the Medical Genetics and Prenatal Diagnostic Service at Hospital Coromoto, and oil companies related medical facility. This approach has led us to conclude that the incidence of anencephaly in the State of Zulia is 0.75/1000, significantly similar to that expected for most populations

Ecological and genetic determinants of plasmid distribution in Escherichia coli.

Science.gov (United States)

Medaney, Frances; Ellis, Richard J; Raymond, Ben

2016-11-01

Bacterial plasmids are important carriers of virulence and antibiotic resistance genes. Nevertheless, little is known of the determinants of plasmid distribution in bacterial populations. Here the factors affecting the diversity and distribution of the large plasmids of Escherichia coli were explored in cattle grazing on semi-natural grassland, a set of populations with low frequencies of antibiotic resistance genes. Critically, the population genetic structure of bacterial hosts was chararacterized. This revealed structured E. coli populations with high diversity between sites and individuals but low diversity within cattle hosts. Plasmid profiles, however, varied considerably within the same E. coli genotype. Both ecological and genetic factors affected plasmid distribution: plasmid profiles were affected by site, E. coli diversity, E. coli genotype and the presence of other large plasmids. Notably 3/26 E. coli serotypes accounted for half the observed plasmid-free isolates indicating that within species variation can substantially affect carriage of the major conjugative plasmids. The observed population structure suggest that most of the opportunities for within species plasmid transfer occur between different individuals of the same genotype and support recent experimental work indicating that plasmid-host coevolution, and epistatic interactions on fitness costs are likely to be important in determining occupancy. © 2016 The Authors. Environmental Microbiology published by Society for Applied Microbiology and John Wiley & Sons Ltd.

Determination of bone and tissue concentrations of teicoplanin mixed with hydroxyapatite cement to repair cortical defects.

Science.gov (United States)

Eggenreich, K; Zeipper, U; Schwendenwein, E; Hadju, S; Kaltenecker, G; Laslo, I; Lang, S; Roschger, P; Vecsei, V; Wintersteiger, R

2002-01-01

A highly specific and sensitive isocratic reversed-phase high performance liquid chromatography (HPLC) method for the determination of the major component of teicoplanin in tissue is reported. Comparing fluorescamine and o-phthalaldehyde (OPA) as derivatizing agents, the derivative formed with the latter exhibits superior fluorescence intensity allowing detection of femtomole quantities. Pretreatment for tissue samples is by solid-phase extraction which uses Bakerbond PolarP C(18) cartridges and gives effective clean up from endogenous by-products. Linearity was given from 0.6 to 100 ng per injection. The coefficient of variation did not exceed 5.8% for both interday and intraday assays. It was found that when bone defects are repaired with a hydroxyapatite-teicoplanin mixture, the antibiotic does not degrade, even when it is in the cement for several months. The stability of teicoplanin in bone cement was determined fluorodensitometrically.

Genetic sex determination in Astatotilapia calliptera, a prototype species for the Lake Malawi cichlid radiation

Science.gov (United States)

Peterson, Erin N.; Cline, Maggie E.; Moore, Emily C.; Roberts, Natalie B.; Roberts, Reade B.

2017-06-01

East African cichlids display extensive variation in sex determination systems. The species Astatotilapia calliptera is one of the few cichlids that reside both in Lake Malawi and in surrounding waterways. A. calliptera is of interest in evolutionary studies as a putative immediate outgroup species for the Lake Malawi species flock and possibly as a prototype ancestor-like species for the radiation. Here, we use linkage mapping to test association of sex in A. calliptera with loci that have been previously associated with genetic sex determination in East African cichlid species. We identify a male heterogametic XY system segregating at linkage group (LG) 7 in an A. calliptera line that originated from Lake Malawi, at a locus previously shown to act as an XY sex determination system in multiple species of Lake Malawi cichlids. Significant association of genetic markers and sex produce a broad genetic interval of approximately 26 megabases (Mb) using the Nile tilapia genome to orient markers; however, we note that the marker with the strongest association with sex is near a gene that acts as a master sex determiner in other fish species. We demonstrate that alleles of the marker are perfectly associated with sex in Metriaclima mbenjii, a species from the rock-dwelling clade of Lake Malawi. While we do not rule out the possibility of other sex determination loci in A. calliptera, this study provides a foundation for fine mapping of the cichlid sex determination gene on LG7 and evolutionary context regarding the origin and persistence of the LG7 XY across diverse, rapidly evolving lineages.

ONLINE TECHNOLOGICAL MONITORING OF INSULATION DEFECTS IN ENAMELED WIRES

Directory of Open Access Journals (Sweden)

V. M. Zolotaryov

2017-08-01

Full Text Available In this paper the authors used non-destructive technological monitoring of defects insulation enameled wire with poliimid polymer. The paper is devoted to the statistical method for processing, comparison and analysis of results of measurements of parameters of insulation of enameled wire because of mathematical model of trend for application in active technological monitoring is developed; the recommendations for parameters of such monitoring are used. It is theoretically justified and the possibility of determination of dependence of the error on the velocity of movement of a wire for want of quantifying of defects in enameled insulation by non-destructive tests by high voltage. The dependence of average value of amount of defects for enameled wire with two-sheeted poliimid insulation in a range of nominal diameter 0.56 mm is experimentally determined. The technological monitoring purpose is to reduce the quantifying defects of enameled insulation.

Highly effective SNP-based association mapping and management of recessive defects in livestock

DEFF Research Database (Denmark)

Charlier, Carole; Coppieters, Wouter; Rollin, Frédéric

2008-01-01

The widespread use of elite sires by means of artificial insemination in livestock breeding leads to the frequent emergence of recessive genetic defects, which cause significant economic and animal welfare concerns. Here we show that the availability of genome-wide, high-density SNP panels, combi...

CARTILAGE CONSTRUCTS ENGINEERED FROM CHONDROCYTES OVEREXPRESSING IGF-I IMPROVE THE REPAIR OF OSTEOCHONDRAL DEFECTS IN A RABBIT MODEL

Science.gov (United States)

Madry, Henning; Kaul, Gunter; Zurakowski, David; Vunjak-Novakovic, Gordana; Cucchiarini, Magali

2015-01-01

Tissue engineering combined with gene therapy is a promising approach for promoting articular cartilage repair. Here, we tested the hypothesis that engineered cartilage with chondrocytes over expressing a human insulin-like growth factor I (IGF-I) gene can enhance the repair of osteochondral defects, in a manner dependent on the duration of cultivation. Genetically modified chondrocytes were cultured on biodegradable polyglycolic acid scaffolds in dynamic flow rotating bioreactors for either 10 or 28 d. The resulting cartilaginous constructs were implanted into osteochondral defects in rabbit knee joints. After 28 weeks of in vivo implantation, immunoreactivity to ß-gal was detectable in the repair tissue of defects that received lacZ constructs. Engineered cartilaginous constructs based on IGF-I-over expressing chondrocytes markedly improved osteochondral repair compared with control (lacZ) constructs. Moreover, IGF-I constructs cultivated for 28 d in vitro significantly promoted osteochondral repair vis-à-vis similar constructs cultivated for 10 d, leading to significantly decreased osteoarthritic changes in the cartilage adjacent to the defects. Hence, the combination of spatially defined overexpression of human IGF-I within a tissue-engineered construct and prolonged bioreactor cultivation resulted in most enhanced articular cartilage repair and reduction of osteoarthritic changes in the cartilage adjacent to the defect. Such genetically enhanced tissue engineering provides a versatile tool to evaluate potential therapeutic genes in vivo and to improve our comprehension of the development of the repair tissue within articular cartilage defects. Insights gained with additional exploration using this model may lead to more effective treatment options for acute cartilage defects. PMID:23588785

Cartilage constructs engineered from chondrocytes overexpressing IGF-I improve the repair of osteochondral defects in a rabbit model

Directory of Open Access Journals (Sweden)

H Madry

2013-04-01

Full Text Available Tissue engineering combined with gene therapy is a promising approach for promoting articular cartilage repair. Here, we tested the hypothesis that engineered cartilage with chondrocytes overexpressing a human insulin-like growth factor I (IGF-I gene can enhance the repair of osteochondral defects, in a manner dependent on the duration of cultivation. Genetically modified chondrocytes were cultured on biodegradable polyglycolic acid scaffolds in dynamic flow rotating bioreactors for either 10 or 28 d. The resulting cartilaginous constructs were implanted into osteochondral defects in rabbit knee joints. After 28 weeks of in vivo implantation, immunoreactivity to ß-gal was detectable in the repair tissue of defects that received lacZ constructs. Engineered cartilaginous constructs based on IGF-I-overexpressing chondrocytes markedly improved osteochondral repair compared with control (lacZ constructs. Moreover, IGF-I constructs cultivated for 28 d in vitro significantly promoted osteochondral repair vis-à-vis similar constructs cultivated for 10 d, leading to significantly decreased osteoarthritic changes in the cartilage adjacent to the defects. Hence, the combination of spatially defined overexpression of human IGF-I within a tissue-engineered construct and prolonged bioreactor cultivation resulted in most enhanced articular cartilage repair and reduction of osteoarthritic changes in the cartilage adjacent to the defect. Such genetically enhanced tissue engineering provides a versatile tool to evaluate potential therapeutic genes in vivo and to improve our comprehension of the development of the repair tissue within articular cartilage defects. Insights gained with additional exploration using this model may lead to more effective treatment options for acute cartilage defects.

78 FR 37201 - Pioneer Hi-Bred International, Inc.; Determination of Nonregulated Status of Maize Genetically...

Science.gov (United States)

2013-06-20

...] Pioneer Hi-Bred International, Inc.; Determination of Nonregulated Status of Maize Genetically Engineered... Hi-Bred International Inc., designated as maize event DP-[Oslash][Oslash]4114-3, which has been... by Pioneer Hi-Bred International, Inc., in its petition for a determination of nonregulated status...

Genetic and Nongenetic Determinants of Cell Growth Variation Assessed by High-Throughput Microscopy

Science.gov (United States)

Ziv, Naomi; Siegal, Mark L.; Gresham, David

2013-01-01

In microbial populations, growth initiation and proliferation rates are major components of fitness and therefore likely targets of selection. We used a high-throughput microscopy assay, which enables simultaneous analysis of tens of thousands of microcolonies, to determine the sources and extent of growth rate variation in the budding yeast (Saccharomyces cerevisiae) in different glucose environments. We find that cell growth rates are regulated by the extracellular concentration of glucose as proposed by Monod (1949), but that significant heterogeneity in growth rates is observed among genetically identical individuals within an environment. Yeast strains isolated from different geographic locations and habitats differ in their growth rate responses to different glucose concentrations. Inheritance patterns suggest that the genetic determinants of growth rates in different glucose concentrations are distinct. In addition, we identified genotypes that differ in the extent of variation in growth rate within an environment despite nearly identical mean growth rates, providing evidence that alleles controlling phenotypic variability segregate in yeast populations. We find that the time to reinitiation of growth (lag) is negatively correlated with growth rate, yet this relationship is strain-dependent. Between environments, the respirative activity of individual cells negatively correlates with glucose abundance and growth rate, but within an environment respirative activity and growth rate show a positive correlation, which we propose reflects differences in protein expression capacity. Our study quantifies the sources of genetic and nongenetic variation in cell growth rates in different glucose environments with unprecedented precision, facilitating their molecular genetic dissection. PMID:23938868

Multiple-level defect species evaluation from average carrier decay

Science.gov (United States)

Debuf, Didier

2003-10-01

An expression for the average decay is determined by solving the the carrier continuity equations, which include terms for multiple defect recombination. This expression is the decay measured by techniques such as the contactless photoconductance decay method, which determines the average or volume integrated decay. Implicit in the above is the requirement for good surface passivation such that only bulk properties are observed. A proposed experimental configuration is given to achieve the intended goal of an assessment of the type of defect in an n-type Czochralski-grown silicon semiconductor with an unusually high relative lifetime. The high lifetime is explained in terms of a ground excited state multiple-level defect system. Also, minority carrier trapping is investigated.

Determinism and Underdetermination in Genetics: Implications for Students' Engagement in Argumentation and Epistemic Practices

Science.gov (United States)

Jiménez-Aleixandre, María Pilar

2014-02-01

In the last two decades science studies and science education research have shifted from an interest in products (of science or of learning), to an interest in processes and practices. The focus of this paper is on students' engagement in epistemic practices (Kelly in Teaching scientific inquiry: Recommendations for research and implementation. Sense Publishers, Rotterdam, pp 99-117, 2008), or on their practical epistemologies (Wickman in Sci Educ 88(3):325-344, 2004). In order to support these practices in genetics classrooms we need to take into account domain-specific features of the epistemology of genetics, in particular issues about determinism and underdetermination. I suggest that certain difficulties may be related to the specific nature of causality in genetics, and in particular to the correspondence between a given set of factors and a range of potential effects, rather than a single one. The paper seeks to bring together recent developments in the epistemology of biology and of genetics, on the one hand, with science education approaches about epistemic practices, on the other. The implications of these perspectives for current challenges in learning genetics are examined, focusing on students' engagement in epistemic practices, as argumentation, understood as using evidence to evaluate knowledge claims. Engaging in argumentation in genetics classrooms is intertwined with practices such as using genetics models to build explanations, or framing genetics issues in their social context. These challenges are illustrated with studies making part of our research program in the USC.

Complex genetics of glaucoma: defects in CYP1B1, and not MYOC ...

Indian Academy of Sciences (India)

wide, affecting almost 60 million people (Quigley and Bro- man 2006). Defects ... Analysis of the family mem- ... both parents of the proband do not show any symptom of. POAG ... †These authors contributed equally to the work. .... stage of life.

Optical coherence tomography use in the diagnosis of enamel defects

Science.gov (United States)

Al-Azri, Khalifa; Melita, Lucia N.; Strange, Adam P.; Festy, Frederic; Al-Jawad, Maisoon; Cook, Richard; Parekh, Susan; Bozec, Laurent

2016-03-01

Molar incisor hypomineralization (MIH) affects the permanent incisors and molars, whose undermineralized matrix is evidenced by lesions ranging from white to yellow/brown opacities to crumbling enamel lesions incapable of withstanding normal occlusal forces and function. Diagnosing the condition involves clinical and radiographic examination of these teeth, with known limitations in determining the depth extent of the enamel defects in particular. Optical coherence tomography (OCT) is an emerging hard and soft tissue imaging technique, which was investigated as a new potential diagnostic method in dentistry. A comparison between the diagnostic potential of the conventional methods and OCT was conducted. Compared to conventional imaging methods, OCT gave more information on the structure of the enamel defects as well as the depth extent of the defects into the enamel structure. Different types of enamel defects were compared, each type presenting a unique identifiable pattern when imaged using OCT. Additionally, advanced methods of OCT image analysis including backscattered light intensity profile analysis and enface reconstruction were performed. Both methods confirmed the potential of OCT in enamel defects diagnosis. In conclusion, OCT imaging enabled the identification of the type of enamel defect and the determination of the extent of the enamel defects in MIH with the advantage of being a radiation free diagnostic technique.

Elastic interaction energies of defect structures

International Nuclear Information System (INIS)

Seitz, E.; de Fontaine, D.

1976-01-01

The elastic strain energy between point defects and small disk-shaped clusters of defects are calculated to determine stable configurations. A distortion tensor of tetragonal symmetry is assigned to each impurity atom. The tetragonality ratio t is varied to cover needle-type (t greater than 1), spherical (t = 1) and disk-type (t less than 0) strain fields. To vary the elastic properties of the host material, Fe, Cu, Al, and V were chosen as examples. Computer calculations are based on the microscopic theory of elasticity which emphasizes calculations in discrete Fourier space. Pairs of point defects order along [001] for t less than 1 and along (001) for t = 1 for all host elements. For t greater than 1 fcc lattices and bcc lattices behave differently. It is shown that only certain three dimensional periodic arrangements of parallel and perpendicular disk-like defect clusters are realized for given tetragonality ratio t and host element

Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3.

Science.gov (United States)

Ting, Stephen B; Wilanowski, Tomasz; Auden, Alana; Hall, Mark; Voss, Anne K; Thomas, Tim; Parekh, Vishwas; Cunningham, John M; Jane, Stephen M

2003-12-01

The neural tube defects (NTDs) spina bifida and anencephaly are widely prevalent severe birth defects. The mouse mutant curly tail (ct/ct) has served as a model of NTDs for 50 years, even though the responsible genetic defect remained unrecognized. Here we show by gene targeting, mapping and genetic complementation studies that a mouse homolog of the Drosophila grainyhead (grh) gene, grainyhead-like-3 (Grhl3), is a compelling candidate for the gene underlying the curly tail phenotype. The NTDs in Grhl3-null mice are more severe than those in the curly tail strain, as the Grhl3 alleles in ct/ct mice are hypomorphic. Spina bifida in ct/ct mice is folate resistant, but its incidence can be markedly reduced by maternal inositol supplementation periconceptually. The NTDs in Grhl3-/- embryos are also folate resistant, but unlike those in ct/ct mice, they are resistant to inositol. These findings suggest that residual Grhl3 expression in ct/ct mice may be required for inositol rescue of folate-resistant NTDs.

Genetic testing in congenital heart disease: A clinical approach

Science.gov (United States)

Chaix, Marie A; Andelfinger, Gregor; Khairy, Paul

2016-01-01

Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient follow-up. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel. PMID:26981213

Genetic determination of mortality rate in Danish dairy cows

DEFF Research Database (Denmark)

Maia, Rafael Pimentel; Ask, Birgitte; Madsen, Per

2014-01-01

: a sire random component with pedigree representing the sire genetic effects and a herd-year-season component. Moreover, the level of heterozygosity and the sire breed proportions were included in the models as covariates in order to account for potential non-additive genetic effects due to the massive...... introduction of genetic material from other populations. The correlations between the sire components for death rate and slaughter rate were negative and small for the 3 populations, suggesting the existence of specific genetic mechanisms for each culling reason and common concurrent genetic mechanisms...

Determining Optimal Replacement Policy with an Availability Constraint via Genetic Algorithms

Directory of Open Access Journals (Sweden)

Shengliang Zong

2017-01-01

Full Text Available We develop a model and a genetic algorithm for determining an optimal replacement policy for power equipment subject to Poisson shocks. If the time interval of two consecutive shocks is less than a threshold value, the failed equipment can be repaired. We assume that the operating time after repair is stochastically nonincreasing and the repair time is exponentially distributed with a geometric increasing mean. Our objective is to minimize the expected average cost under an availability requirement. Based on this average cost function, we propose the genetic algorithm to locate the optimal replacement policy N to minimize the average cost rate. The results show that the GA is effective and efficient in finding the optimal solutions. The availability of equipment has significance effect on the optimal replacement policy. Many practical systems fit the model developed in this paper.

Genetic polymorphism of vitamin D receptor determines its metabolism and efficiency

OpenAIRE

O.A. Yakovleva; O.M. Nikolova; I.A. Doroshkevych; N.V. Shcherbeniuk

2017-01-01

The review represents the results of researches of vitamin D receptor characteristics and its genetic polymorphism, which is variable in different populations, and also depends on age and gender. This polymorphism determines the association of vitamin D different concentration with the probability of bronchial asthma or chronic obstructive pulmonary disease development, and therefore the different efficacy of drug correction of vitamin D deficiency. However, the scientific data are contradict...

Genetic determinants of eating disorders

NARCIS (Netherlands)

Slof-Op 't Landt, Margarita Cornelia Theodora

2011-01-01

In this thesis, a series of studies on different aspects of the genetics of eating disorders is presented. The heritability of disordered eating behavior and attitudes in relation with body mass index (BMI) was evaluated in a large adolescent twin-family sample ascertained through the Netherlands

Genetic determinants of serum vitamin B12 and their relation to body mass index

DEFF Research Database (Denmark)

Allin, Kristine H.; Friedrich, Nele; Pietzner, Maik

2017-01-01

for associations between (1) serum vitamin B12 levels and body mass index (BMI), (2) genetic variants and serum vitamin B12 levels, and (3) genetic variants and BMI. The effect of a genetically determined decrease in serum vitamin B12 on BMI was estimated by instrumental variable regression. Decreased serum......Lower serum vitamin B12 levels have been related to adverse metabolic health profiles, including adiposity. We used a Mendelian randomization design to test whether this relation might be causal. We included two Danish population-based studies (ntotal = 9311). Linear regression was used to test...... vitamin B12 associated with increased BMI (P vitamin B12 associated variants associated strongly with serum vitamin B12 (P vitamin B12...

Determination and microscopic study of incipient defects in irradiated power reactor fuel rods. Final report

International Nuclear Information System (INIS)

Pasupathi, V.; Perrin, J.S.; Roberts, E.

1978-05-01

This report presents the results of nondestructive and destructive examinations carried out on the Point Beach-1 (PWR) and Dresden-3 (BWR) candidate fuel rods selected for the study of pellet-clad interaction (PCI) induced incipient defects. In addition, the report includes results of examination of sections from Oskarshamn-1 (BWR) fuel rods. Eddy current examination of Point Beach-1 rods showed indications of possible incipient defects in the fuel rods. The profilometry and the gamma scan data also indicated that the source of the eddy current indications may be incipient defects. No failed rods or rods with incipient failure were found in the sample from Point Beach-1. Despite the lack of success in finding incipient defects and filed rods, the mechanism for fuel rod failures in Point Beach-1 is postulated to be PCI-related, with high startup rates and fuel handling being the key elements. Nine out of the 10 candidate fuel rods from Dresden-3 (BWR) were failed, and all the failed rods had leaked water so that the initial mechanism was observed. Examination of clad inner surfaces of the specimens from failed and unfailed rods showed fuel deposits of widely varying appearance. The deposits were found to contain uranium, cesium, and tellurium. Transmission electron microscopy of clad specimens showed evidence of microscopic strain. Metallographic examination of fuel pellets from the peak transient power location showed extensive grain boundary separation and axial movement of the fuel indicative of rapid release of fission products. Examination of Oskarshamn clad specimens did not show any stress corrosion crack (SCC) type defects. The defects found in the examinations appear to be related to secondary hydriding. The clad inner surface of the Oskarshamn specimens also showed uranium-rich deposits of varying features

Sex-specific genetic determinants for arterial stiffness in Dahl salt-sensitive hypertensive rats.

Science.gov (United States)

Decano, Julius L; Pasion, Khristine A; Black, Nicole; Giordano, Nicholas J; Herrera, Victoria L; Ruiz-Opazo, Nelson

2016-01-11

Arterial stiffness is an independent predictor of cardiovascular outcomes in hypertensive patients including myocardial infarction, fatal stroke, cerebral micro-bleeds which predicts cerebral hemorrhage in hypertensive patients, as well as progression to hypertension in non-hypertensive subjects. The association between arterial stiffness and various cardiovascular outcomes (coronary heart disease, stroke) remains after adjusting for age, sex, blood pressure, body mass index and other known predictors of cardiovascular disease, suggesting that arterial stiffness, measured via carotid-femoral pulse wave velocity, has a better predictive value than each of these factors. Recent evidence shows that arterial stiffening precedes the onset of high blood pressure; however their molecular genetic relationship (s) and sex-specific determinants remain uncertain. We investigated whether distinct or shared genetic determinants might underlie susceptibility to arterial stiffening in male and female Dahl salt-sensitive rats. Thus, we performed a genome-wide scan for quantitative trait loci (QTLs) affecting arterial stiffness in six-week old F2 (Dahl S x R)-intercross male and female rats characterized for abdominal aortic pulse wave velocity and aortic strain by high-resolution ultrasonography. We detected five highly significant QTLs affecting aortic stiffness: two interacting QTLs (AS-m1 on chromosome 4 and AS-m2 on chromosome16, LOD 8.8) in males and two distinct interacting QTLs (AS-f1 on chromosome 9 and AS-f2 on chromosome11, LOD 8.9) in females affecting pulse wave velocity. One QTL (AS-1 on chromosome 3, LOD 4.3) was found to influence aortic strain in a sex-independent manner. None of these arterial stiffness QTLs co-localized with previously reported blood pressure QTLs detected in equivalent genetic intercrosses. These data reveal sex-specific genetic determinants for aortic pulse wave velocity and suggest distinct polygenic susceptibility for arterial stiffness and

Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution.

Science.gov (United States)

Boueiz, Adel; Lutz, Sharon M; Cho, Michael H; Hersh, Craig P; Bowler, Russell P; Washko, George R; Halper-Stromberg, Eitan; Bakke, Per; Gulsvik, Amund; Laird, Nan M; Beaty, Terri H; Coxson, Harvey O; Crapo, James D; Silverman, Edwin K; Castaldi, Peter J; DeMeo, Dawn L

2017-03-15

Emphysema has considerable variability in the severity and distribution of parenchymal destruction throughout the lungs. Upper lobe-predominant emphysema has emerged as an important predictor of response to lung volume reduction surgery. Yet, aside from alpha-1 antitrypsin deficiency, the genetic determinants of emphysema distribution remain largely unknown. To identify the genetic influences of emphysema distribution in non-alpha-1 antitrypsin-deficient smokers. A total of 11,532 subjects with complete genotype and computed tomography densitometry data in the COPDGene (Genetic Epidemiology of Chronic Obstructive Pulmonary Disease [COPD]; non-Hispanic white and African American), ECLIPSE (Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints), and GenKOLS (Genetics of Chronic Obstructive Lung Disease) studies were analyzed. Two computed tomography scan emphysema distribution measures (difference between upper-third and lower-third emphysema; ratio of upper-third to lower-third emphysema) were tested for genetic associations in all study subjects. Separate analyses in each study population were followed by a fixed effect metaanalysis. Single-nucleotide polymorphism-, gene-, and pathway-based approaches were used. In silico functional evaluation was also performed. We identified five loci associated with emphysema distribution at genome-wide significance. These loci included two previously reported associations with COPD susceptibility (4q31 near HHIP and 15q25 near CHRNA5) and three new associations near SOWAHB, TRAPPC9, and KIAA1462. Gene set analysis and in silico functional evaluation revealed pathways and cell types that may potentially contribute to the pathogenesis of emphysema distribution. This multicohort genome-wide association study identified new genomic loci associated with differential emphysematous destruction throughout the lungs. These findings may point to new biologic pathways on which to expand diagnostic and therapeutic

Ionization-induced rearrangement of defects in silicon

International Nuclear Information System (INIS)

Vinetskij, V.L.; Manojlo, M.A.; Matvijchuk, A.S.; Strikha, V.I.; Kholodar', G.A.

1988-01-01

Ionizing factor effect on defect rearrangement in silicon including centers with deep local electron levels in the p-n-transition region is considered. Deep center parameters were determined using non-steady-state capacity spectroscopy of deep levels (NCDLS) method. NCDLS spectrum measurement was performed using source p + -n - diodes and after their irradiation with 15 keV energy electrons or laser pulses. It is ascertained that in silicon samples containing point defect clusters defect rearrangement under ionizing factor effect takes place, i.e. deep level spectra are changed. This mechanism is efficient in case of silicon irradiation with subthreshold energy photons and electrons and can cause degradation of silicon semiconducting structures

Defects of the Glycinergic Synapse in Zebrafish

Science.gov (United States)

Ogino, Kazutoyo; Hirata, Hiromi

2016-01-01

Glycine mediates fast inhibitory synaptic transmission. Physiological importance of the glycinergic synapse is well established in the brainstem and the spinal cord. In humans, the loss of glycinergic function in the spinal cord and brainstem leads to hyperekplexia, which is characterized by an excess startle reflex to sudden acoustic or tactile stimulation. In addition, glycinergic synapses in this region are also involved in the regulation of respiration and locomotion, and in the nociceptive processing. The importance of the glycinergic synapse is conserved across vertebrate species. A teleost fish, the zebrafish, offers several advantages as a vertebrate model for research of glycinergic synapse. Mutagenesis screens in zebrafish have isolated two motor defective mutants that have pathogenic mutations in glycinergic synaptic transmission: bandoneon (beo) and shocked (sho). Beo mutants have a loss-of-function mutation of glycine receptor (GlyR) β-subunit b, alternatively, sho mutant is a glycinergic transporter 1 (GlyT1) defective mutant. These mutants are useful animal models for understanding of glycinergic synaptic transmission and for identification of novel therapeutic agents for human diseases arising from defect in glycinergic transmission, such as hyperekplexia or glycine encephalopathy. Recent advances in techniques for genome editing and for imaging and manipulating of a molecule or a physiological process make zebrafish more attractive model. In this review, we describe the glycinergic defective zebrafish mutants and the technical advances in both forward and reverse genetic approaches as well as in vivo visualization and manipulation approaches for the study of the glycinergic synapse in zebrafish. PMID:27445686

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

Directory of Open Access Journals (Sweden)

Tom E. J. Theunissen

2017-10-01

Full Text Available Mitochondrial disorders are genetically and clinically heterogeneous, mainly affecting high energy-demanding organs due to impaired oxidative phosphorylation (OXPHOS. Currently, effective treatments for OXPHOS defects, with complex I deficiency being the most prevalent, are not available. Yet, clinical practice has shown that some complex I deficient patients benefit from a high-fat or ketogenic diet, but it is unclear how these therapeutic diets influence mitochondrial function and more importantly, which complex I patients could benefit from such treatment. Dietary studies in a complex I deficient patient with exercise intolerance showed increased muscle endurance on a high-fat diet compared to a high-carbohydrate diet. We performed whole-exome sequencing to characterize the genetic defect. A pathogenic homozygous p.G212V missense mutation was identified in the TMEM126B gene, encoding an early assembly factor of complex I. A complementation study in fibroblasts confirmed that the p.G212V mutation caused the complex I deficiency. The mechanism turned out to be an incomplete assembly of the peripheral arm of complex I, leading to a decrease in the amount of mature complex I. The patient clinically improved on a high-fat diet, which was supported by the 25% increase in maximal OXPHOS capacity in TMEM126B defective fibroblast by the saturated fatty acid palmitic acid, whereas oleic acid did not have any effect in those fibroblasts. Fibroblasts of other patients with a characterized complex I gene defect were tested in the same way. Patient fibroblasts with complex I defects in NDUFS7 and NDUFAF5 responded to palmitic acid, whereas ACAD9, NDUFA12, and NDUFV2 defects were non-responding. Although the data are too limited to draw a definite conclusion on the mechanism, there is a tendency that protein defects involved in early assembly complexes, improve with palmitic acid, whereas proteins defects involved in late assembly, do not. Our data show at

Method of determining external defects of a structure by analyzing a series of its images in the monitoring system

Directory of Open Access Journals (Sweden)

Loktev Aleksey Alekseevich

2015-03-01

geometrical parameters by analyzing a series of images. This is the issue and the subject of this work, which developed the computational algorithms to detect external defects. At the stage of preliminary image processing there is the delineation of characteristic points in the image and the calculation of the optical flow in the area of these points. When determining the defect position, the characteristic points of the image are determined using the detector of Harris-Laplace, which are located in the central part of the image. The characteristic points outside the frame are considered to be background. There is an identification of the changes in characteristic points in the frame in relation to the background by using a pyramidal iterative scheme. In the second stage servo frame focuses on a specific point with the greatest change in relation to the background in the current time. The algorithm for object detection and determination of its parameters includes three procedures: detection procedure start; the procedure of the next image processing; stop procedure for determining the parameters of the object. The method described here can be used to create information-measuring system of monitoring based on the use of photodetectors with high-definition and recognition of defects (color differences and differences in the form compared to the background. Since almost each examination of a building or structure begins with a visual examination and determination of the most probable places of occurrence and presence of the defects, the proposed method can be combined with this stage and it will simplify the process of diagnosing, screening for the development of projects on reconstruction and placement of additional equipment on the existing infrastructure.

Bone tissue ultrastructural defects in a mouse model for osteogenesis imperfecta: a Raman spectroscopy study

Science.gov (United States)

Chen, Tsoching; Kozloff, Kenneth M.; Goldstein, Steven A.; Morris, Michael D.

2004-07-01

Osteogenesis imperfecta (OI) is genetic defect in which the genes that code for the α1(I) or α2(I) chains of type I collagen are defective. The defects often result in substitution of a bulky amino acid for glycine, causing formation of collagen that can not form the normal triple helix. Depending on the details of the defects, the outcomes range from controllable to lethal. This study focuses on OI type IV, a more common and moderately severe form of the disease. People with the disease have a substantial increase in the risk and rate of fracture. We examine the spectroscopic consequences of these defects, using a mouse model (BRTL) that mimics OI type IV. We compare Raman images from tibial cortical tissue of wild-type mice and BRTL mice with single copy of mutation and show that both mineral to matrix ratios and collagen inter-fibril cross-links are different in wild-type and mutant mice.

Enamel defect of deciduous teeth in small gestational age children

Directory of Open Access Journals (Sweden)

Willyanti S Syarif

2010-06-01

Full Text Available Background: Enamel defect could be caused by genetic and environmental factors in prenatal period. Meanwhile, prenatal malnutrition could also cause small gestational age (SGA. Small Gestational Age is the term used for a neonatal baby with birthweight below the -2SD normal value or 10th percentile on the intrauterine Lubchenco curve. This condition is due to intra-uterine growth restriction, and eventually ends up with several developmental defects of organs, including teeth. In fact, deciduous tooth development has a critical phase within this development period. Purpose: The aim of this study is not only to find out the incidence of enamel defect in SGA children, but also to know the percentage of SGA risk factor to develop enamel defect. Method: This was a epidemiology research with consecutive admission technique. It consisted of 153 SGA children aged 9–48 months. Next, the Ponderal index was used to assign SGA types, symmetrical or asymmetrical one-in this study 59 and 94 respectively. On the other hand, three hundred and ninety Appropriate for Gestational Age (AGA children aged 4–48 months were also included in the study as a control group. Enamel defect then was determined by intraoral examination, classified into hypoplasia and hypocalcifications. Chi-square test was finally used to determine the relative risk ratio between the SGA and the control AGA children. Result: The result of this research showed that incidence of enamel defect in SGA children was 86.92%, meanwhile, that in AGA children was 23.08%, 66.00% of which were commonly suffered from hypocalcification. With p<0.05 it is also known that SGA children has the risk of enamel defect with hypocalcification, about 79% higher than AGA children. Conclusion: It could be concluded that 79% of SGA children had the risk of deciduous tooth enamel defect with hypocalcification as the most.Latar belakang: Defek email dapat terjadi karena faktor genetik dan lingkungan sistemik yang

Hole Defects Affect the Dynamic Fracture Behavior of Nearby Running Cracks

Directory of Open Access Journals (Sweden)

R. S. Yang

2018-01-01

Full Text Available Effects of defects on the dynamic fracture behavior of engineering materials cannot be neglected. Using the experimental system of digital laser dynamic caustics, the effects of defects on the dynamic fracture behavior of nearby running cracks are studied. When running cracks propagate near to defects, the crack path deflects toward the defect; the degree of deflection is greater for larger defect diameters. When the running crack propagates away from the defect, the degree of deflection gradually reduces and the original crack path is restored. The intersection between the caustic spot and the defect is the direct cause of the running crack deflection; the intersection area determines the degree of deflection. In addition, the defect locally inhibits the dynamic stress intensity factor of running cracks when they propagate toward the defect and locally promotes the dynamic stress intensity factor of running cracks when they propagate away from the defect.

Carrier removal and defect behavior in p-type InP

Science.gov (United States)

Weinberg, I.; Swartz, C. K.; Drevinsky, P. J.

1992-01-01

A simple expression, obtained from the rate equation for defect production, was used to relate carrier removal to defect production and hole trapping rates in p-type InP after irradiation by 1-MeV electrons. Specific contributions to carrier removal from defect levels H3, H4, and H5 were determined from combined deep-level transient spectroscopy (DLTS) and measured carrier concentrations. An additional contribution was attributed to one or more defects not observed by the present DLTS measurements. The high trapping rate observed for H5 suggests that this defect, if present in relatively high concentration, could be dominant in p-type InP.

Maxillary canine displacement and genetically determined predisposition to disturbed development of the dentition.

Science.gov (United States)

Stahl, Franka; Grabowski, Rosemarie

2003-05-01

The relationship between maxillary canine displacement and the simultaneous occurrence of "genetically determined predisposition to disturbed development of the dentition" as defined by Hoffmeister was investigated in 675 patients. Panoramic radiographs taken of each patient during the first and the second mixed dentition periods were evaluated. Canine inclination and the distance between the tip of the canine and a line connecting the cusps of the molars were computed in five different age groups according to Dausch-Neumann. Statistical analysis revealed 34 patients with "potential canine displacement", who exhibited further symptoms of "genetically determined predisposition to disturbed development of the dentition" significantly more frequently than the total group. The symptoms concerned were agenesia, displaced tooth buds, rotated or tilted incisors, aplasia and microdontia of lateral incisors. Careful follow-ups in patients with a predisposition to disturbed dental development enables risks to be anticipated and canine displacement to be detected at an early stage.

Institute of Genetics. Progress report on research and development activities in 1994

International Nuclear Information System (INIS)

1995-01-01

The Institute of Genetics performed R and D work on the following subjects: Effects induced by radiation, oxygen radicals, and chemical mutagens; Regulation of genetic activity; Mechanisms of tumor spreading; Genetic models of mice for simulation of defects in man; p53 and the 'dioxin' receptor as targets of toxic agents. The research results achieved in the reporting period are reviewed and explained. (orig./MG) [de

Fibrous metaphyseal defects - determination of their origin and natural history using a radiomorphological study

International Nuclear Information System (INIS)

Ritschl, P.; Karnel, F.; Hajek, P.

1988-01-01

The radiomorphological appearance of fibrous metaphyseal defects (FMDs) is demonstrated by long-term follow-up studies. A characteristic radiomorphological course rather than a typical single appearance can be established. These findings correlate well with the duration of these tumor-like lesions; therefore, the radiological findings allow conclusions to be made about the age of a fibrous metaphyseal defect. In addition, the characteristic locations of FMDs will be explained in respect of theier origins at insertions of tendons and ligaments. (orig.)

Racial/ethnic variations in the prevalence of selected major birth defects, metropolitan Atlanta, 1994-2005.

Science.gov (United States)

Kucik, James E; Alverson, Clinton J; Gilboa, Suzanne M; Correa, Adolfo

2012-01-01

Birth defects are the leading cause of infant mortality and are responsible for substantial child and adult morbidity. Documenting the variation in prevalence of birth defects among racial/ethnic subpopulations is critical for assessing possible variations in diagnosis, case ascertainment, or risk factors among such groups. We used data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects registry with active case ascertainment. We estimated the racial/ethnic variation in prevalence of 46 selected major birth defects among live births, stillbirths, and pregnancy terminations at >20 weeks gestation among mothers residing in the five central counties of metropolitan Atlanta between 1994 and 2005, adjusting for infant sex, maternal age, gravidity, and socioeconomic status (SES). We also explored SES as a potential effect measure modifier. Compared with births to non-Hispanic white women, births to non-Hispanic black women had a significantly higher prevalence of five birth defects and a significantly lower prevalence of 10 birth defects, while births to Hispanic women had a significantly higher prevalence of four birth defects and a significantly lower prevalence of six birth defects. The racial/ethnic disparities in the prevalence of some defects varied by SES, but no clear pattern emerged. Racial/ethnic disparities were suggested in 57% of included birth defects. Disparities in the prevalence of birth defects may result from different underlying genetic susceptibilities; exposure to risk factors; or variability in case diagnosis, ascertainment, or reporting among the subpopulations examined. Policies that improve early diagnosis of birth defects could reduce associated morbidity and mortality.

Risk factors and birth prevalence of birth defects and inborn errors of ...

African Journals Online (AJOL)

Children with any birth defect or metabolic errors of metabolism at birth or in the neonatology section were our sample for study. Control group was randomly selected from the cases with normal live births. Blood tests were performed for children suspected to suffer from genetic blood disorders. The principal BD as per the ...

Variation in Recombination Rate and Its Genetic Determinism in Sheep Populations.

Science.gov (United States)

Petit, Morgane; Astruc, Jean-Michel; Sarry, Julien; Drouilhet, Laurence; Fabre, Stéphane; Moreno, Carole R; Servin, Bertrand

2017-10-01

Recombination is a complex biological process that results from a cascade of multiple events during meiosis. Understanding the genetic determinism of recombination can help to understand if and how these events are interacting. To tackle this question, we studied the patterns of recombination in sheep, using multiple approaches and data sets. We constructed male recombination maps in a dairy breed from the south of France (the Lacaune breed) at a fine scale by combining meiotic recombination rates from a large pedigree genotyped with a 50K SNP array and historical recombination rates from a sample of unrelated individuals genotyped with a 600K SNP array. This analysis revealed recombination patterns in sheep similar to other mammals but also genome regions that have likely been affected by directional and diversifying selection. We estimated the average recombination rate of Lacaune sheep at 1.5 cM/Mb, identified ∼50,000 crossover hotspots on the genome, and found a high correlation between historical and meiotic recombination rate estimates. A genome-wide association study revealed two major loci affecting interindividual variation in recombination rate in Lacaune, including the RNF212 and HEI10 genes and possibly two other loci of smaller effects including the KCNJ15 and FSHR genes. The comparison of these new results to those obtained previously in a distantly related population of domestic sheep (the Soay) revealed that Soay and Lacaune males have a very similar distribution of recombination along the genome. The two data sets were thus combined to create more precise male meiotic recombination maps in Sheep. However, despite their similar recombination maps, Soay and Lacaune males were found to exhibit different heritabilities and QTL effects for interindividual variation in genome-wide recombination rates. This highlights the robustness of recombination patterns to underlying variation in their genetic determinism. Copyright © 2017 by the Genetics Society

Antisite Defects of the L12 Structure Determined by the Phase Field Microelasticity Model

International Nuclear Information System (INIS)

Jing, Zhang; Zheng, Chen; Yan-Li, Lu; Yong-Xin, Wang; Yan, Zhao

2009-01-01

A phase field microelasticity simulation is performed to examine the antisite defect of L1 2 -Ni 3 Al in Ni 75 Al 5.3 V 19.7 ternary alloy. Combinimg strain energy with the phase field model leads to an atom configuration change as time proceeds. For the Ni sublattice, the antisite defect Al Ni , the equilibrium occupancy probability (OP) of which declines, precedes Ni Ni and V Ni in reaching equilibrium; subsequently, Ni Ni and V Ni present a phenomenon of symmetrical rise and decline individually. Similarly, for the Al sublattice, the antisite defect Ni Al , the OP of which eventually rises, takes fewer time steps than Al Ai and V Al to attain equilibrium. Thereafter, Al Al rises while V Al declines symmetrically at the axes of the Ni Al MAI curve. Furthermore, the OP for the Al sublattice is much more sensitive to strain energy than that for the Ni sublattice. (condensed matter: structure, mechanical and thermal properties)

Leak before break behaviour of austenitic and ferritic pipes containing circumferential defects

Energy Technology Data Exchange (ETDEWEB)

Stadtmueller, W.; Sturm, D.

1997-04-01

Several research projects carried out at MPA Stuttgart to investigate the Leak-before-Break (LBB) behavior of safety relevant pressure bearing components are summarized. Results presented relate to pipes containing circumferential defects subjected to internal pressure and external bending loading. An overview of the experimentally determined results for ferritic components is presented. For components containing postulated or actual defects, the dependence of the critical loading limit on the defect size is shown in the form of LBB curves. These are determined experimentally and/or by calculation for through-wall slits, and represent the boundary curve between leakage and massive fracture. For surface defects and a given bending moment and internal pressure, no fracture will occur if the length at leakage remains smaller than the critical defect length given by the LBB curve for through-wall defects. The predictive capability of engineering calculational methods are presented by way of example. The investigation programs currently underway, testing techniques, and initial results are outlined.

Immobile defects in ferroelastic walls: Wall nucleation at defect sites

Science.gov (United States)

He, X.; Salje, E. K. H.; Ding, X.; Sun, J.

2018-02-01

Randomly distributed, static defects are enriched in ferroelastic domain walls. The relative concentration of defects in walls, Nd, follows a power law distribution as a function of the total defect concentration C: N d ˜ C α with α = 0.4 . The enrichment Nd/C ranges from ˜50 times when C = 10 ppm to ˜3 times when C = 1000 ppm. The resulting enrichment is due to nucleation at defect sites as observed in large scale MD simulations. The dynamics of domain nucleation and switching is dependent on the defect concentration. Their energy distribution follows the power law with exponents during yield between ɛ ˜ 1.82 and 2.0 when the defect concentration increases. The power law exponent is ɛ ≈ 2.7 in the plastic regime, independent of the defect concentration.

Detection of defects in formed sheet metal using medial axis transformation

Science.gov (United States)

Murmu, Naresh C.; Velgan, Roman

2003-05-01

In the metal forming processes, the sheet metals are often prone to various defects such as thinning, dents, wrinkles etc. In the present manufacturing environments with ever increasing demand of higher quality, detecting the defects of formed sheet metal using an effective and objective inspection system is the foremost norm to remain competitive in market. The defect detection using optical techniques aspire to satisfy its needs to be non-contact and fast. However, the main difficulties to achieve this goal remain essentially on the development of efficient evaluation technique and accurate interpretation of extracted data. The defect like thinning is detected by evaluating the deviations of the thickness in the formed sheet metal against its nominal value. The present evaluation procedure for determination of thickness applied on the measurements data is not without deficiency. To improve this procedure, a new evaluation approach based on medial axis transformation is proposed here. The formed sheet metals are digitized using fringe projection systems in different orientations, and afterwards registered into one coordinate frame. The medial axis transformation (MAT) is applied on the point clouds, generating the point clouds of MAT. This data is further processed and medial surface is determined. The thinning defect is detected by evaluating local wall thickness and other defects like wrinkles are determined using the shape recognition on the medial surface. The applied algorithm is simple, fast and robust.

Modelling Defects Acceptors And Determination Of Electric Model From The Nyquist Plot And Bode In Thin Film CIGS

Directory of Open Access Journals (Sweden)

Demba Diallo

2015-08-01

Full Text Available Abstract The performance of the chalcopyrite material CuInGaSe2 CIGS used as an absorber layer in thin-film photovoltaic devices is significantly affected by the presence of native defects. Multivalent defects e.g. double acceptors or simple acceptor are important immaterial used in solar cell production in general and in chalcopyrite materials in particular. We used the thin film solar cell simulation software SCAPS to enable the simulation of multivalent defects with up to five different charge states.Algorithms enabled us to simulate an arbitrary number of possible states of load. The presented solution method avoids numerical inaccuracies caused by the subtraction of two almost equal numbers. This new modelling facility is afterwards used to investigate the consequences of the multivalent character of defects for the simulation of chalcopyrite based CIGS. The capacitance increase with the evolution of the number of defects C- f curves have found to have defect dependence.

Aortic root dimensions are predominantly determined by genetic factors: a classical twin study

International Nuclear Information System (INIS)

Celeng, Csilla; Kolossvary, Marton; Kovacs, Attila; Molnar, Andrea Agnes; Szilveszter, Balint; Karolyi, Mihaly; Jermendy, Adam L.; Karady, Julia; Merkely, Bela; Maurovich-Horvat, Pal; Horvath, Tamas; Tarnoki, Adam D.; Tarnoki, David L.; Voros, Szilard; Jermendy, Gyoergy

2017-01-01

Previous studies using transthoracic echocardiography (TTE) observed moderate heritability of aortic root dimensions. Computed tomography angiography (CTA) might provide more accurate heritability estimates. Our primary aim was to assess the heritability of the aortic root with CTA. Our secondary aim was to derive TTE-based heritability and compare this with the CTA-based results. In the BUDAPEST-GLOBAL study 198 twin subjects (118 monozygotic, 80 dizygotic; age 56.1 ± 9.4 years; 126 female) underwent CTA and TTE. We assessed the diameter of the left ventricular outflow tract (LVOT), annulus, sinus of Valsalva, sinotubular junction and ascending aorta. Heritability was assessed using ACDE model (A additive genetic, C common environmental, D dominant genetic, E unique environmental factors). Based on CTA, additive genetic effects were dominant (LVOT: A = 0.67, E = 0.33; annulus: A = 0.76, E = 0.24; sinus of Valsalva: A = 0.83, E = 0.17; sinotubular junction: A = 0.82, E = 0.18; ascending aorta: A = 0.75, E = 0.25). TTE-derived measurements showed moderate to no genetic influence (LVOT: A = 0.38, E = 0.62; annulus: C = 0.47, E = 0.53; sinus of Valsalva: C = 0.63, E = 0.37; sinotubular junction: C = 0.45, E = 0.55; ascending aorta: A = 0.67, E = 0.33). CTA-based assessment suggests that aortic root dimensions are predominantly determined by genetic factors. TTE-based measurements showed moderate to no genetic influence. The choice of measurement method has substantial impact on heritability estimates. (orig.)

Aortic root dimensions are predominantly determined by genetic factors: a classical twin study

Energy Technology Data Exchange (ETDEWEB)

Celeng, Csilla; Kolossvary, Marton; Kovacs, Attila; Molnar, Andrea Agnes; Szilveszter, Balint; Karolyi, Mihaly; Jermendy, Adam L.; Karady, Julia; Merkely, Bela; Maurovich-Horvat, Pal [Semmelweis University, MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Budapest (Hungary); Horvath, Tamas [Budapest University of Technology and Economics, Department of Hydrodynamic Systems, Budapest (Hungary); Tarnoki, Adam D.; Tarnoki, David L. [Semmelweis University, Department of Radiology and Oncotherapy, Budapest (Hungary); Voros, Szilard [Global Genomics Group, Atlanta, GA (United States); Jermendy, Gyoergy [Bajcsy-Zsilinszky Hospital, Medical Department, Budapest (Hungary)

2017-06-15

Previous studies using transthoracic echocardiography (TTE) observed moderate heritability of aortic root dimensions. Computed tomography angiography (CTA) might provide more accurate heritability estimates. Our primary aim was to assess the heritability of the aortic root with CTA. Our secondary aim was to derive TTE-based heritability and compare this with the CTA-based results. In the BUDAPEST-GLOBAL study 198 twin subjects (118 monozygotic, 80 dizygotic; age 56.1 ± 9.4 years; 126 female) underwent CTA and TTE. We assessed the diameter of the left ventricular outflow tract (LVOT), annulus, sinus of Valsalva, sinotubular junction and ascending aorta. Heritability was assessed using ACDE model (A additive genetic, C common environmental, D dominant genetic, E unique environmental factors). Based on CTA, additive genetic effects were dominant (LVOT: A = 0.67, E = 0.33; annulus: A = 0.76, E = 0.24; sinus of Valsalva: A = 0.83, E = 0.17; sinotubular junction: A = 0.82, E = 0.18; ascending aorta: A = 0.75, E = 0.25). TTE-derived measurements showed moderate to no genetic influence (LVOT: A = 0.38, E = 0.62; annulus: C = 0.47, E = 0.53; sinus of Valsalva: C = 0.63, E = 0.37; sinotubular junction: C = 0.45, E = 0.55; ascending aorta: A = 0.67, E = 0.33). CTA-based assessment suggests that aortic root dimensions are predominantly determined by genetic factors. TTE-based measurements showed moderate to no genetic influence. The choice of measurement method has substantial impact on heritability estimates. (orig.)

Artificial defects detection and location during welding

International Nuclear Information System (INIS)

Asty, M.

1978-01-01

Welding control by acoustic emission allows defects detection as soon as they are created. Acoustic testing saves time and gives better quality assurance in the case of multiple pass welding of plates. A welded joint was performed on A533B steel plates 250 mm thick by submerged arc welding. Artificial defects were implanted to determine significative parameters of acoustic reception. In operating conditions a significant acoustic activity takes place only during welding as shown by preliminary tests. At the same time an important noise is created by the arc, scories cooling and metal solidification and cooling. These problems are solved by an original processing in time-space detecting and locating defects with a good approximation [fr

Defect-induced transitions in synchronous asymmetric exclusion processes

International Nuclear Information System (INIS)

Liu Mingzhe; Wang Ruili; Jiang Rui; Hu Maobin; Gao Yang

2009-01-01

The effects of a single local defect in synchronous asymmetric exclusion processes are investigated via theoretical analysis and Monte Carlo simulations. Our theoretical analysis shows that there are four possible stationary phases, i.e., the (low density, low density), (low density, high density), (high density, low density) and (high density, high density) in the system. In the (high density, low density) phase, the system can reach a maximal current which is determined by the local defect, but independent of boundary conditions. A phenomenological domain wall approach is developed to predict dynamic behavior at phase boundaries. The effects of defective hopping probability p on density profiles and currents are investigated. Our investigation shows that the value of p determines phase transitions when entrance rate α and exit rate β are fixed. Density profiles and currents obtained from theoretical calculations are in agreement with Monte Carlo simulations

Threshold defect production in silicon determined by density functional theory molecular dynamics simulations

International Nuclear Information System (INIS)

Holmstroem, E.; Kuronen, A.; Nordlund, K.

2008-01-01

We studied threshold displacement energies for creating stable Frenkel pairs in silicon using density functional theory molecular dynamics simulations. The average threshold energy over all lattice directions was found to be 36±2 STAT ±2 SYST eV, and thresholds in the directions and were found to be 20±2 SYST eV and 12.5±1.5 SYST eV, respectively. Moreover, we found that in most studied lattice directions, a bond defect complex is formed with a lower threshold than a Frenkel pair. The average threshold energy for producing either a bond defect or a Frenkel pair was found to be 24±1 STAT ±2 SYST eV

Screening for GPR101 defects in pediatric pituitary corticotropinomas.

OpenAIRE

Trivellin, Giampaolo(*); Correa, Ricardo R.(*); Batsis, Maria; Faucz, Fabio R.; Chittiboina, Prashant; Bjelobaba, Ivana; Larco, Darwin O.; Quezado, Martha; Daly, Adrian; Stojilkovic, Stanko S.; Wu, T. John; Beckers, Albert; Lodish, Maya; Stratakis, Constantine A.

2016-01-01

Cushing disease (CD) in children is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas. Germline or somatic mutations in genes such as MEN1, CDKIs, AIP, and USP8 have been identified in pediatric CD, but the genetic defects in a significant percentage of cases are still unknown. We investigated the orphan G protein-coupled receptor GPR101, a gene known to be involved in somatotropinomas, for its possible involvement in corticotropinomas. We performed GPR101 sequencing, ...

Production and recombination of radiation defects in argon and krypton crystals

International Nuclear Information System (INIS)

Giersberg, E.J.

1981-01-01

Relative changes in the lattice constants of argon and krypton crystals have been measured by X-ray diffraction. As a result X-ray irradiation is found to produce stable defects. The recombination behaviour of these defects can be determined by isochronous and isothermal annealing. The creation of primary defects can be explained by exciton excitation and double-ionisation. (orig.) [de

Determining Optimal Replacement Policy with an Availability Constraint via Genetic Algorithms

OpenAIRE

Zong, Shengliang; Chai, Guorong; Su, Yana

2017-01-01

We develop a model and a genetic algorithm for determining an optimal replacement policy for power equipment subject to Poisson shocks. If the time interval of two consecutive shocks is less than a threshold value, the failed equipment can be repaired. We assume that the operating time after repair is stochastically nonincreasing and the repair time is exponentially distributed with a geometric increasing mean. Our objective is to minimize the expected average cost under an availability requi...

Characterization of lacunar defects by positrons annihilation

International Nuclear Information System (INIS)

Barthe, M.F.; Corbel, C.; Blondiaux, G.

2003-01-01

Among the nondestructive methods for the study of matter, the positrons annihilation method allows to sound the electronic structure of materials by measuring the annihilation characteristics. These characteristics depend on the electronic density as seen by the positon, and on the electron momentums distribution which annihilate with the positon. The positon is sensible to the coulombian potential variations inside a material and sounds preferentially the regions away from nuclei which represent potential wells. The lacunar-type defects (lack of nuclei) represent deep potential wells which can trap the positon up to temperatures close to the melting. This article describes the principles of this method and its application to the characterization of lacunar defects: 1 - positrons: matter probes (annihilation of electron-positon pairs, annihilation characteristics, positrons sources); 2 - positrons interactions in solids (implantation profiles, annihilation states, diffusion and trapping, positon lifetime spectrum: evolution with the concentration of defects); 3 - measurement of annihilation characteristics with two gamma photons (lifetime spectroscopy with the β + 22 Na isotope, spectroscopy of Doppler enlargement of the annihilation line); 4 - determination of the free volume of defects inside or at the surface of materials (annihilation signature in lacunar defects, lacuna, lacunar clusters and cavities, acceptors nature in semiconductors: ionic or lacunar, interface defects, precipitates in alloys); 5 - conclusions. (J.S.)

Identification of the DNA repair defects in a case of Dubowitz syndrome.

Directory of Open Access Journals (Sweden)

Jingyin Yue

Full Text Available Dubowitz Syndrome is an autosomal recessive disorder with a unique set of clinical features including microcephaly and susceptibility to tumor formation. Although more than 140 cases of Dubowitz syndrome have been reported since 1965, the genetic defects of this disease has not been identified. In this study, we systematically analyzed the DNA damage response and repair capability of fibroblasts established from a Dubowitz Syndrome patient. Dubowitz syndrome fibroblasts are hypersensitive to ionizing radiation, bleomycin, and doxorubicin. However, they have relatively normal sensitivities to mitomycin-C, cisplatin, and camptothecin. Dubowitz syndrome fibroblasts also have normal DNA damage signaling and cell cycle checkpoint activations after DNA damage. These data implicate a defect in repair of DNA double strand break (DSB likely due to defective non-homologous end joining (NHEJ. We further sequenced several genes involved in NHEJ, and identified a pair of novel compound mutations in the DNA Ligase IV gene. Furthermore, expression of wild type DNA ligase IV completely complement the DNA repair defects in Dubowitz syndrome fibroblasts, suggesting that the DNA ligase IV mutation is solely responsible for the DNA repair defects. These data suggests that at least subset of Dubowitz syndrome can be attributed to DNA ligase IV mutations.

Modeling defect production in high energy collision cascades

International Nuclear Information System (INIS)

Heinisch, H.L.; Singh, B.N.

1993-01-01

A multi-model approach roach (MMA) to simulating defect production processes at the atomic scale is described that incorporates molecular dynamics (MD), binary collision approximation (BCA) calculations and stochastic annealing simulations. The central hypothesis of the MMA is that the simple, fast computer codes capable of simulating large numbers of high energy cascades (e.g., BCA codes) can be made to yield the correct defect configurations when their parameters are calibrated using the results of the more physically realistic MD simulations. The calibration procedure is investigated using results of MD simulations of 25 keV cascades in copper. The configurations of point defects are extracted from the MD cascade simulations at the end of the collisional phase, similar to the information obtained with a binary collision model. The MD collisional phase defect configurations are used as input to the ALSOME annealing simulation code, and values of the ALSOME quenching parameters are determined that yield the best fit to the post-quenching defect configurations of the MD simulations

Heterogeneous rates for birth defects in Latin America: hints on causality.

Science.gov (United States)

Lopez-Camelo, J S; Orioli, I M

1996-01-01

The aim of this work was to disclose risk factors associated with birth defects which were heterogeneously distributed in the different geographic regions sampled by the Latin American Collaborative Study of Congenital Malformations (ECLAMC). The material included 2,159,065 hospital births, delivered in the 1967-1989 period in 24 geographic regions of Latin America. Birth defect types with 50 case-control pairs or more were analyzed. A risk factor was defined as that available variable with differential geographic rates, correlated with those of a given birth defect type. Identified factors were tested by case-control multivariate logistic regression to confirm their role in the occurrence of the defect. Altitude and maternal acute illness during first trimester of pregnancy, named influenza, were risk factors for microtia. Prenatal drug exposure, mainly sex hormones, were connected with the occurrence of hypospadias in low frequency areas, while Native ancestry was a "protective" factor in the same regions. Acute (influenza), and chronic (epilepsy and syphilis) maternal illness during first trimester of pregnancy and gravidity higher than four were risk factors for cleft lip. The independence of these variables from maternal age suggested that low maternal socioeconomic level could explain the high birth defect order and, perhaps, syphilis in mothers. Postaxial polydactyly was associated with parental consanguinity, as well as Afro-American ancestry, suggesting genetic heterogeneity.

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy

DEFF Research Database (Denmark)

Merinero, B; Perez-Cerda, C; Ruiz Sala, P

2007-01-01

High concentrations of butyryl/isobutyrylcarnitine (C(4)-carnitine) in plasma with increase of ethylmalonic acid (EMA) in urine point to different genetic entities, and further investigations are required to differentiate the possible underlying defect. Here we report three unrelated cases, two n...

Studies of defects and defect agglomerates by positron annihilation spectroscopy

DEFF Research Database (Denmark)

Eldrup, Morten Mostgaard; Singh, B.N.

1997-01-01

A brief introduction to positron annihilation spectroscopy (PAS), and in particular lo its use for defect studies in metals is given. Positrons injected into a metal may become trapped in defects such as vacancies, vacancy clusters, voids, bubbles and dislocations and subsequently annihilate from...... the trapped state iri the defect. The annihilation characteristics (e.g., the lifetime of the positron) can be measured and provide information about the nature of the defect (e.g., size, density, morphology). The technique is sensitive to both defect size (in the range from monovacancies up to cavities...

First-Principles Investigations of Defects in Minerals

Science.gov (United States)

Verma, Ashok K.

2011-07-01

The ideal crystal has an infinite 3-dimensional repetition of identical units which may be atoms or molecules. But real crystals are limited in size and they have disorder in stacking which as called defects. Basically three types of defects exist in solids: 1) point defects, 2) line defects, and 3) surface defects. Common point defects are vacant lattice sites, interstitial atoms and impurities and these are known to influence strongly many solid-state transport properties such as diffusion, electrical conduction, creep, etc. In thermal equilibrium point defects concentrations are determined by their formation enthalpies and their movement by their migration barriers. Line and surface defects are though absent from the ideal crystal in thermal equilibrium due to higher energy costs but they are invariably present in all real crystals. Line defects include edge-, screw- and mixed-dislocations and their presence is essential in explaining the mechanical strength and deformation of real crystals. Surface defects may arise at the boundary between two grains, or small crystals, within a larger crystal. A wide variety of grain boundaries can form in a polycrystal depending on factors such growth conditions and thermal treatment. In this talk we will present our first-principles density functional theory based defect studies of SiO2 polymorphs (stishovite, CaCl2-, α-PbO2-, and pyrite-type), Mg2SiO4 polymorphs (forsterite, wadsleyite and ringwoodite) and MgO [1-3]. Briefly, several native point defects including vacancies, interstitials, and their complexes were studied in silica polymorphs upto 200 GPa. Their values increase by a factor of 2 over the entire pressure range studied with large differences in some cases between different phases. The Schottky defects are energetically most favorable at zero pressure whereas O-Frenkel pairs become systematically more favorable at pressures higher than 20 GPa. The geometric and electronic structures of defects and migrating

Environmental enrichment imparts disease-modifying and transgenerational effects on genetically-determined epilepsy and anxiety.

Science.gov (United States)

Dezsi, Gabi; Ozturk, Ezgi; Salzberg, Michael R; Morris, Margaret; O'Brien, Terence J; Jones, Nigel C

2016-09-01

The absence epilepsies are presumed to be caused by genetic factors, but the influence of environmental exposures on epilepsy development and severity, and whether this influence is transmitted to subsequent generations, is not well known. We assessed the effects of environmental enrichment on epilepsy and anxiety outcomes in multiple generations of GAERS - a genetic rat model of absence epilepsy that manifests comorbid elevated anxiety-like behaviour. GAERS were exposed to environmental enrichment or standard housing beginning either prior to, or after epilepsy onset, and underwent EEG recordings and anxiety testing. Then, we exposed male GAERS to early enrichment or standard housing and generated F1 progeny, which also underwent EEG recordings. Hippocampal CRH mRNA expression and DNA methylation were assessed using RT-PCR and pyrosequencing, respectively. Early environmental enrichment delayed the onset of epilepsy in GAERS, and resulted in fewer seizures in adulthood, compared with standard housed GAERS. Enrichment also reduced the frequency of seizures when initiated in adulthood. Anxiety levels were reduced by enrichment, and these anti-epileptogenic and anxiolytic effects were heritable into the next generation. We also found reduced expression of CRH mRNA in GAERS exposed to enrichment, but this was not due to changes in DNA methylation. Environmental enrichment produces disease-modifying effects on genetically determined absence epilepsy and anxiety, and these beneficial effects are transferable to the subsequent generation. Reduced CRH expression was associated with these phenotypic improvements. Environmental stimulation holds promise as a naturalistic therapy for genetically determined epilepsy which may benefit subsequent generations. Copyright © 2016 Elsevier Inc. All rights reserved.

Angiographic differentiation of type of ventricular septal defects

International Nuclear Information System (INIS)

Cheon, Mal Soon; Park, Hee Young; Kim, Yang Sook

1989-01-01

Defects of the ventricular septum are the commonest type of congenital cardiac malformations. A classification with axial angiography of the subtypes of ventricular septal defects is proposed on the study of 126 patients with defects of the ventricular septum. The results were as follows: 1. The incidence of the ventricular septal defects was 39.6% of congenital heart malformation. 2. The sex distribution of cases were 70 males and 56 females, the age ranged from 13 months to 26 years. 3. Angiographic features seen by axial angiography were as follows: a. Perimembranous defects as seen on long axial view of left ventriculogram were in continuity wity aortic valve. The relation of the defect to the tricuspid valve allows distinction of the extension of the preimembranous defect toward inlet, trabecular, or infundibular zones. This relation was determined angiographically, using the course of the contrast medium from the left ventricle through the ventricular septal defect, opacifying the right ventricle. In inlet excavation, the shunted blood opacified the recess between septal leaflet of tricuspid valve and interventricular septum in early phase, in infundibular excavation, opacified the recess between anterior leaflet of tricuspid valve and anterior free wall of right ventricle and in trabecular excavation, the shunted blood traversed anterior portion of tricuspid valve ring, opacified trabecular portion of right ventricle. b. Muscular defects were separated from the semilunar and atrioventricular valves. c, Subarterial defects were related to both semilunar valves, and they were best demonstrated on the elongated right anterior oblique view of the left ventriculogram. d. Total infundibular defects were profiled in right anterior oblique 30 and long axial view, subaortic in location in both views

Genetic Mutations, Birth Lengths, Weights and Head Circumferences of Children with IGF-I Receptor Defects. Comparison with other Congenital Defects in the GH/IGF-I axis.

Science.gov (United States)

Essakow, Jenna Lee; Lauterpacht, Aharon; Lilos, Pearl; Kauli, Rivka; Laron, Zvi

2016-09-01

In recent years more and more genetic defects along the GHRH-GH-IGF-I axis have been reported. Mutations of the IGF-I receptor (R) are a rare abnormality of whom only the heterozygote progenies survive. To summarize, from the literature, data on birth length, weight and head circumference of neonates with IGF-I-R mutations, and to correlate the data with that of other types of mutations in the GH/IGF-I axis. Sixty seven neonates from 24 published articles were included and forty seven different mutations of the IGF-I (R) located on chromosome 15 have been identified. Mean (±SD) birth length (BL), available for 26, (10 M, 16F) neonates with a gestational age of 34-41weeks, was 44.2±4cm; one was premature (30cm at 31 weeks). There was a significant correlation between birth length and gestational age (GA) r=0.71 (p>.001). Mean birth weight (BW) of 41 neonates (18M, 23F) was 2388±743gr. Two premature neonates weighed 650gr and 950gr respectively. The BW correlated significantly with gestational age, (males: r=0.68; p=0.007, females: r=0.49; p=0.024). The BMI of 25 neonates ranged from 6 to 13. In 22 records marked microcephaly was ascertained or stated. Nine of 16 mothers were short (133 -148cm), m±SD = 150.5±7.3cm. Copyright© of YS Medical Media ltd.

Genetic determinants of LDL, lipoprotein(a), triglyceride-rich lipoproteins and HDL: concordance and discordance with cardiovascular disease risk

DEFF Research Database (Denmark)

Nordestgaard, Børge G; Tybjærg-Hansen, Anne

2011-01-01

To evaluate whether new and known genetic determinants of plasma levels of LDL cholesterol, lipoprotein(a), triglyceride-rich lipoproteins, and HDL cholesterol associate with the risk of cardiovascular disease expected from the effect on lipoprotein levels. Concordance or discordance of such gene......To evaluate whether new and known genetic determinants of plasma levels of LDL cholesterol, lipoprotein(a), triglyceride-rich lipoproteins, and HDL cholesterol associate with the risk of cardiovascular disease expected from the effect on lipoprotein levels. Concordance or discordance...

Defect modelling

International Nuclear Information System (INIS)

Norgett, M.J.

1980-01-01

Calculations, drawing principally on developments at AERE Harwell, of the relaxation about lattice defects are reviewed with emphasis on the techniques required for such calculations. The principles of defect modelling are outlined and various programs developed for defect simulations are discussed. Particular calculations for metals, ionic crystals and oxides, are considered. (UK)

A putative causal relationship between genetically determined female body shape and posttraumatic stress disorder.

Science.gov (United States)

Polimanti, Renato; Amstadter, Ananda B; Stein, Murray B; Almli, Lynn M; Baker, Dewleen G; Bierut, Laura J; Bradley, Bekh; Farrer, Lindsay A; Johnson, Eric O; King, Anthony; Kranzler, Henry R; Maihofer, Adam X; Rice, John P; Roberts, Andrea L; Saccone, Nancy L; Zhao, Hongyu; Liberzon, Israel; Ressler, Kerry J; Nievergelt, Caroline M; Koenen, Karestan C; Gelernter, Joel

2017-11-27

The nature and underlying mechanisms of the observed increased vulnerability to posttraumatic stress disorder (PTSD) in women are unclear. We investigated the genetic overlap of PTSD with anthropometric traits and reproductive behaviors and functions in women. The analysis was conducted using female-specific summary statistics from large genome-wide association studies (GWAS) and a cohort of 3577 European American women (966 PTSD cases and 2611 trauma-exposed controls). We applied a high-resolution polygenic score approach and Mendelian randomization analysis to investigate genetic correlations and causal relationships. We observed an inverse association of PTSD with genetically determined anthropometric traits related to body shape, independent of body mass index (BMI). The top association was related to BMI-adjusted waist circumference (WC adj ; R = -0.079, P body shape and PTSD, which could be mediated by evolutionary mechanisms involved in human sexual behaviors.

Application of genetic algorithms for determination biological half-life of 137 Cs in milk

International Nuclear Information System (INIS)

Pantelic, G.

1998-01-01

Genetic algorithm an optimization method involving natural selection mechanisms, was used to determine biological half-life of sup 1 sup 3 sup 7 Cs in the milk, after the Chernobyl accident, based on a two compartment linear system model. Genetic algorithms operate on populations of strings. Reproduction, crossover and mutation are applied to successive string population to create new string population. A model parameter estimation is performed by minimizing square differences between fitting function and experimental data. The calculated biological half-life of sup 1 sup 3 sup 7 Cs in milk is (32(+(-) days (author)

New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening.

Science.gov (United States)

Chen, Chun-Kai; Yu, Hsing-Tse; Soong, Yung-Kuei; Lee, Chyi-Long

2014-06-01

Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body) or embryos (blastomeres or trophectoderm cells) in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH) has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows the haplotype of

Breast cancer: determining the genetic profile from ultrasound-guided percutaneous biopsy specimens obtained during the diagnostic workups.

Science.gov (United States)

López Ruiz, J A; Zabalza Estévez, I; Mieza Arana, J A

2016-01-01

To evaluate the possibility of determining the genetic profile of primary malignant tumors of the breast from specimens obtained by ultrasound-guided percutaneous biopsies during the diagnostic imaging workup. This is a retrospective study in 13 consecutive patients diagnosed with invasive breast cancer by B-mode ultrasound-guided 12 G core needle biopsy. After clinical indication, the pathologist decided whether the paraffin block specimens seemed suitable (on the basis of tumor size, validity of the sample, and percentage of tumor cells) before sending them for genetic analysis with the MammaPrint® platform. The size of the tumors on ultrasound ranged from 0.6cm to 5cm. In 11 patients the preserved specimen was considered valid and suitable for use in determining the genetic profile. In 1 patient (with a 1cm tumor) the pathologist decided that it was necessary to repeat the core biopsy to obtain additional samples. In 1 patient (with a 5cm tumor) the specimen was not considered valid by the genetic laboratory. The percentage of tumor cells in the samples ranged from 60% to 70%. In 11/13 cases (84.62%) it was possible to do the genetic analysis on the previously diagnosed samples. In most cases, regardless of tumor size, it is possible to obtain the genetic profile from tissue specimens obtained with ultrasound-guided 12 G core biopsy preserved in paraffin blocks. Copyright © 2015 SERAM. Published by Elsevier España, S.L.U. All rights reserved.

[Genetics of congenital heart diseases].

Science.gov (United States)

Bonnet, Damien

2017-06-01

Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

New fundamental defects in a-SiO2

International Nuclear Information System (INIS)

Karna, S.P.; Kurtz, H.A.; Shedd, W.M.; Pugh, R.D.; Singaraju, B.K.

1999-01-01

Throughout the three decades of research into radiation-induced degradation of metal-oxide-semiconductor (MOS) devices, investigators understood that point defects in the Si-SiO 2 structure (localized deviations from stoichiometrically pure Si and SiO 2 ) are responsible for many observed anomalies. Basic research in this area has progressed along two tracks: (i) differentiating the anomalies based upon subtle differences in their characteristic behavior, and (ii) precise description of the defects responsible for the anomalous behavior. These two research tracks are complementary since often a discovery in one area provides insight and ultimately leads to discoveries in the other. Here, the atomic structure and spin properties of two previously undescribed amorphous silicon dioxide fundamental point defects have been characterized for the first time by ab initio quantum mechanical calculations. Both defects are electrically neutral trivalent silicon centers in the oxide. One of the defects, the X-center, is determined to have an O 2 Sitriple b ondSi ↑ atomic structure. The other defect, called the Y-center, is found to have an OSi 2 triple b ondSi ↑ structure. Calculated electronic and electrical properties of the new defect centers are consistent with the published characteristics of the oxide switching trap or border trap precursors

Optimal lot sizing in screening processes with returnable defective items

Science.gov (United States)

Vishkaei, Behzad Maleki; Niaki, S. T. A.; Farhangi, Milad; Rashti, Mehdi Ebrahimnezhad Moghadam

2014-07-01

This paper is an extension of Hsu and Hsu (Int J Ind Eng Comput 3(5):939-948, 2012) aiming to determine the optimal order quantity of product batches that contain defective items with percentage nonconforming following a known probability density function. The orders are subject to 100 % screening process at a rate higher than the demand rate. Shortage is backordered, and defective items in each ordering cycle are stored in a warehouse to be returned to the supplier when a new order is received. Although the retailer does not sell defective items at a lower price and only trades perfect items (to avoid loss), a higher holding cost incurs to store defective items. Using the renewal-reward theorem, the optimal order and shortage quantities are determined. Some numerical examples are solved at the end to clarify the applicability of the proposed model and to compare the new policy to an existing one. The results show that the new policy provides better expected profit per time.

On the genetic risk after high dose radioiodine therapy with regard to the gonadal dose

International Nuclear Information System (INIS)

Ehrenheim, C.; Hauswirth, C.; Fitschen, J.; Martin, E.; Oetting, G.; Hundeshagen, H.

1997-01-01

Aim: The genetic risk for the offspring of patients treated with high doses of radioiodine was to be assessed with special regard to the gonadal dose caused by diagnostic and therapeutic procedures. Methods: 41 young females (aged between 19 and 39 years) and four young males (aged 26 to 36 years) treated with radioiodine because of a thyroid carcinoma were interviewed by use of a questionnaire. The course of pregnancy and birth history could be documented as well as the congenital and developmental conditions of 56 children. Results: The amount of radioactivity applied for therapy and whole body scans ranged over 4,144 and 35,15 GBq I-131; the individual gonadal dose was calculated based on the MIRD model and ranged over 0,2 and 2,2 Sv (0,51 Sv at a mean). The period of time between the last radioiodine application and confinement was at least 9 months, not exceeding 14 years. As to the course of pregnancy and birth two early abortions, one extrauterine gravidity and one premature birth due to an insufficiency of the placenta were stated. In one case a chromosomal translocation 7/14 occured as a genetic defect which lead to an interruption. The children's development was unconspicuous except of two cases of neurodermatitis as well as multiple allergies and an early closure of the anterior fontanelle in one child each. Conclusion: Although the genetic risk is supposed to increase with the gonadal dose achieved (doubling dose 1 Sv) and the increased risk of any congenital anomaly was calculated as about 13% at a mean in our patients, the rate of genetic determined diseases was not elevated (1,8% or 1/57). Thus, no increase of genetic defects or congenital malformations was reported in a total of 408 children described in the literature and in our group. (orig.) [de

Luminescence Properties of Surface Radiation-Induced Defects in Lithium Fluoride

Science.gov (United States)

Voitovich, A. P.; Kalinov, V. S.; Martynovich, E. F.; Novikov, A. N.; Runets, L. P.; Stupak, A. P.

2013-11-01

Luminescence and luminescence excitation spectra are recorded for surface radiation-induced defects in lithium fluoride at temperatures of 77 and 293 K. The presence of three bands with relatively small intensity differences is a distinctive feature of the excitation spectrum. These bands are found to belong to the same type of defects. The positions of the peaks and the widths of the absorption and luminescence bands for these defects are determined. The luminescence decay time is measured. All the measured characteristics of these surface defects differ from those of previously known defects induced by radiation in the bulk of the crystals. It is found that the luminescence of surface defects in an ensemble of nanocrystals with different orientations is not polarized. The number of anion vacancies in the surface defects is estimated using the polarization measurements. It is shown that radiative scattering distorts the intensity ratios of the luminescence excitation bands located in different spectral regions.

Genetic mouse models of brain ageing and Alzheimer's disease.

Science.gov (United States)

Bilkei-Gorzo, Andras

2014-05-01

Progression of brain ageing is influenced by a complex interaction of genetic and environmental factors. Analysis of genetically modified animals with uniform genetic backgrounds in a standardised, controlled environment enables the dissection of critical determinants of brain ageing on a molecular level. Human and animal studies suggest that increased load of damaged macromolecules, efficacy of DNA maintenance, mitochondrial activity, and cellular stress defences are critical determinants of brain ageing. Surprisingly, mouse lines with genetic impairment of anti-oxidative capacity generally did not show enhanced cognitive ageing but rather an increased sensitivity to oxidative challenge. Mouse lines with impaired mitochondrial activity had critically short life spans or severe and rapidly progressing neurodegeneration. Strains with impaired clearance in damaged macromolecules or defects in the regulation of cellular stress defences showed alterations in the onset and progression of cognitive decline. Importantly, reduced insulin/insulin-like growth factor signalling generally increased life span but impaired cognitive functions revealing a complex interaction between ageing of the brain and of the body. Brain ageing is accompanied by an increased risk of developing Alzheimer's disease. Transgenic mouse models expressing high levels of mutant human amyloid precursor protein showed a number of symptoms and pathophysiological processes typical for early phase of Alzheimer's disease. Generally, therapeutic strategies effective against Alzheimer's disease in humans were also active in the Tg2576, APP23, APP/PS1 and 5xFAD lines, but a large number of false positive findings were also reported. The 3xtg AD model likely has the highest face and construct validity but further studies are needed. Copyright © 2013 Elsevier Inc. All rights reserved.

Vacancy defect and defect cluster energetics in ion-implanted ZnO

Science.gov (United States)

Dong, Yufeng; Tuomisto, F.; Svensson, B. G.; Kuznetsov, A. Yu.; Brillson, Leonard J.

2010-02-01

We have used depth-resolved cathodoluminescence, positron annihilation, and surface photovoltage spectroscopies to determine the energy levels of Zn vacancies and vacancy clusters in bulk ZnO crystals. Doppler broadening-measured transformation of Zn vacancies to vacancy clusters with annealing shifts defect energies significantly lower in the ZnO band gap. Zn and corresponding O vacancy-related depth distributions provide a consistent explanation of depth-dependent resistivity and carrier-concentration changes induced by ion implantation.

Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (II

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2008-03-01

Full Text Available Fetuses with neural tube defects (NTDs maybe associated with syndromes, disorders, and maternal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as Currarino syndrome, sacral defect with anterior meningocele, Jarcho-Levin syndrome (spondylo-costal dysostosis, lateral meningocele syndrome, neurofibromatosis type I, Marfan syndrome, and hyperthermia. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders, and maternal risk factors may be different from those of non-syndromic multifactorial NTDs. Perinatal identification of NTDs should alert one to the syndromes, disorders, and maternal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling.

Excess Oxygen Defects in Layered Cuprates

Science.gov (United States)

Lightfoot, P.; Pei, S. Y.; Jorgensen, J. D.; Manthiram, A.; Tang, X. X.; Goodenough, J. B.

1990-09-01

Neutron powder diffraction has been used to study the oxygen defect chemistry of two non-superconducting layered cuprates, La{sub 1. 25}Dy{sub 0.75}Cu{sub 3.75}F{sub 0.5}, having a T{sup {asterisk}}- related structure, and La{sub 1.85}Sr{sub 1.15}Cu{sub 2}O{sub 6.25}, having a structure related to that of the newly discovered double-layer superconductor La{sub 2-x}Sr{sub x}CaCu{sub 2}O{sub 6}. The role played by oxygen defects in determining the superconducting properties of layered cuprates is discussed.

Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding

International Nuclear Information System (INIS)

Innerarity, T.L.; Weisgraber, K.H.; Arnold, K.S.; Mahley, R.W.; Krauss, R.M.; Vega, G.L.; Grundy, S.M.

1987-01-01

Previous in vivo turnover studies suggested that retarded clearance of low density lipoproteins (LDL) from the plasma of some hypercholesterolemic patients is due to LDL with defective receptor binding. The present study examined this postulate directly by receptor binding experiments. The LDL from a hypercholesterolemic patient (G.R.) displayed a reduced ability to bind to the LDL receptors on normal human fibroblasts. The G.R. LDL possessed 32% of normal receptor binding activity. Likewise, the G.R. LDL were much less effective than normal LDL in competing with 125 I-labeled normal LDL for cellular uptake and degradation and in stimulating intracellular cholesteryl ester synthesis. The defect in LDL binding appears to be due to a genetic abnormality of apolipoprotein B-100: two brothers of the proband possess LDL defective in receptor binding, whereas a third brother and the proband's son have normally binding LDL. Further, the defect in receptor binding does not appear to be associated wit an abnormal lipid composition or structure of the LDL. Normal and abnormal LDL subpopulations were partially separated from plasma of two subjects by density-gradient ultracentrifugation, a finding consistent with the presence of a normal and a mutant allele. The affected family members appear to be heterozygous for this disorder, which has been designated familial defective apolipoprotein B-100. These studies indicate that the defective receptor binding results in inefficient clearance of LDL and the hypercholesterolemia observed in these patients

Point defect weakened thermal contraction in monolayer graphene.

Science.gov (United States)

Zha, Xian-Hu; Zhang, Rui-Qin; Lin, Zijing

2014-08-14

We investigate the thermal expansion behaviors of monolayer graphene and three configurations of graphene with point defects, namely the replacement of one carbon atom with a boron or nitrogen atom, or of two neighboring carbon atoms by boron-nitrogen atoms, based on calculations using first-principles density functional theory. It is found that the thermal contraction of monolayer graphene is significantly decreased by point defects. Moreover, the corresponding temperature for negative linear thermal expansion coefficient with the maximum absolute value is reduced. The cause is determined to be point defects that enhance the mechanical strength of graphene and then reduce the amplitude and phonon frequency of the out-of-plane acoustic vibration mode. Such defect weakening of graphene thermal contraction will be useful in nanotechnology to diminish the mismatching or strain between the graphene and its substrate.

Imaging techniques for visualizing and phenotyping congenital heart defects in murine models.

Science.gov (United States)

Liu, Xiaoqin; Tobita, Kimimasa; Francis, Richard J B; Lo, Cecilia W

2013-06-01

Mouse model is ideal for investigating the genetic and developmental etiology of congenital heart disease. However, cardiovascular phenotyping for the precise diagnosis of structural heart defects in mice remain challenging. With rapid advances in imaging techniques, there are now high throughput phenotyping tools available for the diagnosis of structural heart defects. In this review, we discuss the efficacy of four different imaging modalities for congenital heart disease diagnosis in fetal/neonatal mice, including noninvasive fetal echocardiography, micro-computed tomography (micro-CT), micro-magnetic resonance imaging (micro-MRI), and episcopic fluorescence image capture (EFIC) histopathology. The experience we have gained in the use of these imaging modalities in a large-scale mouse mutagenesis screen have validated their efficacy for congenital heart defect diagnosis in the tiny hearts of fetal and newborn mice. These cutting edge phenotyping tools will be invaluable for furthering our understanding of the developmental etiology of congenital heart disease. Copyright © 2013 Wiley Periodicals, Inc.

Actinic inspection of multilayer defects on EUV masks

International Nuclear Information System (INIS)

Barty, A; Liu, Y; Gullikson, E; Taylor, J S; Wood, O

2005-01-01

The production of defect-free mask blanks, and the development of techniques for inspecting and qualifying EUV mask blanks, remains a key challenge for EUV lithography. In order to ensure a reliable supply of defect-free mask blanks, it is necessary to develop techniques to reliably and accurately detect defects on un-patterned mask blanks. These inspection tools must be able to accurately detect all critical defects whilst simultaneously having the minimum possible false-positive detection rate. There continues to be improvement in high-speed non-actinic mask blank inspection tools, and it is anticipated that these tools can and will be used by industry to qualify EUV mask blanks. However, the outstanding question remains one of validating that non-actinic inspection techniques are capable of detecting all printable EUV defects. To qualify the performance of non-actinic inspection tools, a unique dual-mode EUV mask inspection system has been installed at the Advanced Light Source (ALS) synchrotron at Lawrence Berkeley National Laboratory. In high-speed inspection mode, whole mask blanks are scanned for defects using 13.5-nm wavelength light to identify and map all locations on the mask that scatter a significant amount of EUV light. In imaging, or defect review mode, a zone plate is placed in the reflected beam path to image a region of interest onto a CCD detector with an effective resolution on the mask of 100-nm or better. Combining the capabilities of the two inspection tools into one system provides the unique capability to determine the coordinates of native defects that can be used to compare actinic defect inspection with visible light defect inspection tools under commercial development, and to provide data for comparing scattering models for EUV mask defects

Effects of in-cascade defect clustering on near-term defect evolution

Energy Technology Data Exchange (ETDEWEB)

Heinisch, H.L. [Pacific Northwest National Lab., Richland, WA (United States)

1997-08-01

The effects of in-cascade defect clustering on the nature of the subsequent defect population are being studied using stochastic annealing simulations applied to cascades generated in molecular dynamics (MD) simulations. The results of the simulations illustrates the strong influence of the defect configuration existing in the primary damage state on subsequent defect evolution. The large differences in mobility and stability of vacancy and interstitial defects and the rapid one-dimensional diffusion of small, glissile interstitial loops produced directly in cascades have been shown to be significant factors affecting the evolution of the defect distribution. In recent work, the effects of initial cluster sizes appear to be extremely important.

Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.

Science.gov (United States)

Ravera, Silvia; Vaccaro, Daniele; Cuccarolo, Paola; Columbaro, Marta; Capanni, Cristina; Bartolucci, Martina; Panfoli, Isabella; Morelli, Alessandro; Dufour, Carlo; Cappelli, Enrico; Degan, Paolo

2013-10-01

Fanconi anemia (FA) is a rare and complex inherited blood disorder of the child. At least 15 genes are associated with the disease. The highest frequency of mutations belongs to groups A, C and G. Genetic instability and cytokine hypersensitivity support the selection of leukemic over non-leukemic stem cells. FA cellular phenotype is characterized by alterations in red-ox state, mitochondrial functionality and energy metabolism as reported in the past however a clear picture of the altered biochemical phenotype in FA is still elusive and the final biochemical defect(s) still unknown. Here we report an analysis of the respiratory fluxes in FANCA primary fibroblasts, lymphocytes and lymphoblasts. FANCA mutants show defective respiration through Complex I, diminished ATP production and metabolic sufferance with an increased AMP/ATP ratio. Respiration in FANCC mutants is normal. Treatment with N-acetyl-cysteine (NAC) restores oxygen consumption to normal level. Defective respiration in FANCA mutants appear correlated with the FA pro-oxidative phenotype which is consistent with the altered morphology of FANCA mitochondria. Electron microscopy measures indeed show profound alterations in mitochondrial ultrastructure and shape. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model.

Directory of Open Access Journals (Sweden)

Matthieu Raveau

2012-05-01

Full Text Available Down syndrome (DS leads to complex phenotypes and is the main genetic cause of birth defects and heart diseases. The Ts65Dn DS mouse model is trisomic for the distal part of mouse chromosome 16 and displays similar features with post-natal lethality and cardiovascular defects. In order to better understand these defects, we defined electrocardiogram (ECG with a precordial set-up, and we found conduction defects and modifications in wave shape, amplitudes, and durations in Ts65Dn mice. By using a genetic approach consisting of crossing Ts65Dn mice with Ms5Yah mice monosomic for the App-Runx1 genetic interval, we showed that the Ts65Dn viability and ECG were improved by this reduction of gene copy number. Whole-genome expression studies confirmed gene dosage effect in Ts65Dn, Ms5Yah, and Ts65Dn/Ms5Yah hearts and showed an overall perturbation of pathways connected to post-natal lethality (Coq7, Dyrk1a, F5, Gabpa, Hmgn1, Pde10a, Morc3, Slc5a3, and Vwf and heart function (Tfb1m, Adam19, Slc8a1/Ncx1, and Rcan1. In addition cardiac connexins (Cx40, Cx43 and sodium channel sub-units (Scn5a, Scn1b, Scn10a were found down-regulated in Ts65Dn atria with additional down-regulation of Cx40 in Ts65Dn ventricles and were likely contributing to conduction defects. All these data pinpoint new cardiac phenotypes in the Ts65Dn, mimicking aspects of human DS features and pathways altered in the mouse model. In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn. These results might lead to new therapeutic strategies to improve the care of DS people.

Dirichlet topological defects

International Nuclear Information System (INIS)

Carroll, S.M.; Trodden, M.

1998-01-01

We propose a class of field theories featuring solitonic solutions in which topological defects can end when they intersect other defects of equal or higher dimensionality. Such configurations may be termed open-quotes Dirichlet topological defects,close quotes in analogy with the D-branes of string theory. Our discussion focuses on defects in scalar field theories with either gauge or global symmetries, in 3+1 dimensions; the types of defects considered include walls ending on walls, strings on walls, and strings on strings. copyright 1998 The American Physical Society

Study on the intrinsic defects in tin oxide with first-principles method

Science.gov (United States)

Sun, Yu; Liu, Tingyu; Chang, Qiuxiang; Ma, Changmin

2018-04-01

First-principles and thermodynamic methods are used to study the contribution of vibrational entropy to defect formation energy and the stability of the intrinsic point defects in SnO2 crystal. According to thermodynamic calculation results, the contribution of vibrational entropy to defect formation energy is significant and should not be neglected, especially at high temperatures. The calculated results indicate that the oxygen vacancy is the major point defect in undoped SnO2 crystal, which has a higher concentration than that of the other point defect. The property of negative-U is put forward in SnO2 crystal. In order to determine the most stable defects much clearer under different conditions, the most stable intrinsic defect as a function of Fermi level, oxygen partial pressure and temperature are described in the three-dimensional defect formation enthalpy diagrams. The diagram visually provides the most stable point defects under different conditions.

Frenkel defect absorption on dislocations and dislocation discharge rate. Modeling determination of the absorption zone

International Nuclear Information System (INIS)

Mikhlin, Eh.Ya.

1988-01-01

A situation connected with the fact that evaluations of dislocation discharge strength which somehow or other are based on the elasticity theory in the dislocation nucleus or near it, do not lead to results complying with experimental data, is discussed. Bases of the alternative approach to this problem consisting in direct investigation into the process of Frenkel defect absorption on dislocation by its computerized simulation at the microscopic level are also presented. Methods of investigation and results are described using α dislocation in iron-alpha as an example. The concept of zones of vacancy and interstitial atom absorption on dislocation is discussed. It is shown that a spontaneous transition, performed by any of these defects near a dislocation is not always identical to absorption and usually appears to be only a part of a multistage process leading to the defect disappearance. Potential relief characteristics for vacancy movement near the dislocation are found. An area wide enough in a transverse direction is found around the dislocation. Vacncies reaching this area can be easily transported to places of their disappearance. Therefore the vacancy entry to this area is equivalent to the absorption. the procedure of simulating the atomic structure of a crystallite containing a dislocation with a step is described. Positions from which these defects perform spontaneous transitions, reaching the disappearance places are found on the dislocation near the step

Pre and post-natal risk and determination of factors for child obesity.

Science.gov (United States)

Trandafir, L M; Temneanu, O R

2016-01-01

Obesity is considered a condition presenting a complex, multi-factorial etiology that implies genetic and non-genetic factors. The way the available information should be efficiently and strategically used in the obesity and overweight prohylaxisprogrammes for children all over the world is still unclear for most of the risk factors. Mothers' pre-conception weight and weight gain during pregnancy are two of the most important prenatal determinants of childhood obesity. Maternal obesity and gestational weight gain are associated with foetal macrosomia and childhood obesity, and this effect extends into adulthood. Obesity and the metabolic syndrome in children originate in intrauterine life. The current obesity epidemic is probably the result of our evolutive inheritance associated with the consumption of highly processed food with an increased calorific value. The determination of risk factors involved in child obesity are: genetic predisposition, diet, sedentary behaviors, socioeconomic position, ethnic origin, microbiota, iatrogenic, endocrine diseases, congenital and acquired hypothalamic defects, usage of medications affecting appetite. However, the vast majority of patients will not have any of these identifiable conditions. Regardless of the aetiology, all the patients should be considered for modifiable lifestyle risk factors and screened for the complications of obesity.

Production of UT Reference Blocks Containing Artificially Introduced Defects

International Nuclear Information System (INIS)

Kaya, A. A.; Ucuncuoglu, S.; Kurkcu, N.; Kandemir, A.; Arslan, H.

2007-01-01

Metallic blocks of Inconel 718 and Ti-6A1-4V alloys that contain artificially introduced defects of known type, size, shape and location were prepared to serve as calibration standards in ultrasonic inspection. The synthetic defects employed to serve as reflectors were all pertinent to the specific alloy systems used, i.e. compositional defects termed as 'dirty white' 'white spot' and 'freckle' for Inconel 718; 'hard-alpha' for titanium alloy. Furthermore, as a defect type common to all three materials, spherical voids of various sizes were also incorporated into these calibration blocks. The aim of this study is to introduce defects of known type and size into metallic blocks made of superalloy Inconel 718 and titanium Ti-6A1-4V alloy. The scope of the study entailed determination of the correct parameters for manufacturing processes involved. Based on the results of the preceding phases of this study, it was decided that the method of Vacuum Hot Pressing (VHP) was to be used in this project to manufacture the metallic block containing artificial defects

Auto-oscillations of temperature and defect density in impure crystals under irradiation

International Nuclear Information System (INIS)

Selishchev, P.A.; Sugakov, V.I.

1990-01-01

Appearance of auto-oscillations in temperature and defect density of impurity crystals under irradiation is studied. It is shown that at certain critical parameters stationary distribution of temperature and defect density of the sample irradiated becomes unstable as regards the formation of temporal dissipative structures: auto-oscillations of temperature and defect density. Critical parameters are determined (the rate of defect formation, temperature of crystal environment, etc.) and the frequency of appearing auto-oscillations, its dependence on irradiation conditions and crystal properties are found

Genetic determinants of HDL metabolism.

Science.gov (United States)

Ossoli, A; Gomaraschi, M; Franceschini, G; Calabresi, L

2014-01-01

Plasma high density lipoproteins (HDL) comprise a highly heterogeneous family of lipoprotein particles, with subclasses that can be separated and identified according to density, size, surface charge as well as shape and protein composition. There is evidence that these subclasses may differ in their functional properties. The individual plasma HDL cholesterol (HDL-C) level is generally taken as a snapshot of the steady-state concentration of all circulating HDL subclasses together, but this is insufficient to capture the structural and functional variation in HDL particles. HDL are continuously remodeled and metabolized in plasma and interstitial fluids, through the interaction with a large number of factors, including structural proteins, membrane transporters, enzymes, transfer proteins and receptors. Genetic variation in these factors can lead to essential changes in plasma HDL levels, and to remarkable changes in HDL particle density, size, surface charge, shape, and composition in lipids and apolipoproteins. This review discusses the impact of rare mutations and common variants in genes encoding factors involved in HDL remodeling and metabolism on plasma HDL-C levels and particle distribution. The study of the effects of human genetic variation in major players in HDL metabolism provides important clues on how individual factors modulate the formation, maturation, remodeling and catabolism of HDL.

Performance Analysis of Combined Methods of Genetic Algorithm and K-Means Clustering in Determining the Value of Centroid

Science.gov (United States)

Adya Zizwan, Putra; Zarlis, Muhammad; Budhiarti Nababan, Erna

2017-12-01

The determination of Centroid on K-Means Algorithm directly affects the quality of the clustering results. Determination of centroid by using random numbers has many weaknesses. The GenClust algorithm that combines the use of Genetic Algorithms and K-Means uses a genetic algorithm to determine the centroid of each cluster. The use of the GenClust algorithm uses 50% chromosomes obtained through deterministic calculations and 50% is obtained from the generation of random numbers. This study will modify the use of the GenClust algorithm in which the chromosomes used are 100% obtained through deterministic calculations. The results of this study resulted in performance comparisons expressed in Mean Square Error influenced by centroid determination on K-Means method by using GenClust method, modified GenClust method and also classic K-Means.

Probability of defect detection of Posiva's electron beam weld

International Nuclear Information System (INIS)

Kanzler, D.; Mueller, C.; Pitkaenen, J.

2013-12-01

The report 'Probability of Defect Detection of Posiva's electron beam weld' describes POD curves of four NDT methods radiographic testing, ultrasonic testing, eddy current testing and visual testing. POD-curves are based on the artificial defects in reference blocks. The results are devoted to the demonstration of suitability of the methods for EB weld testing. Report describes methodology and procedure applied by BAM. Report creates a link from the assessment of the reliability and inspection performance to the risk assessment process of the canister final disposal project. Report ensures the confirmation of the basic quality of the NDT methods and their capability to describe the quality of the EB-weld. The probability of detection curves are determined based on the MIL-1823 standard and it's reliability guidelines. The MIL-1823 standard was developed for the determination of integrity of gas turbine engines for the US military. In the POD-process there are determined as a key parameter for the defect detectability the a90/95 magnitudes, i.e. the size measure a of the defect, for which the lower 95 % confidence band crosses the 90 % POD level. By this way can be confirmed that defects with a size of a90/95 will be detected with 90 % probability. In case the experiment will be repeated 5 % might fall outside this confidence limit. (orig.)

Defect forces, defect couples and path integrals in fracture mechanics

International Nuclear Information System (INIS)

Roche, R.L.

1979-07-01

In this work, it is shown that the path integrals can be introduced without any reference to the material behavior. The method is based on the definition in a continuous medium of a set of vectors and couples having the dimension of a force or a moment. More precisely, definitions are given of volume defect forces, surface defect forces, volume defect couples, and surface defect couples. This is done with the help of the stress working variation of a particule moving through the solid. The most important result is: the resultant of all the defect forces included in a volume V is the J integral on the surface surrounding V and the moment resultant is the L integral. So these integrals are defined without any assumption on the material constitutive equation. Another result is the material form of the virtual work principle - defect forces are acting like conventional forces in the conventional principles of virtual work. This lead to the introduction of the energy momentum tensor and of the associated couple stress. Application of this method is made to fracture mechanics in studying the defect forces distribution around a crack [fr

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Science.gov (United States)

Slavotinek, A M; Garcia, S T; Chandratillake, G; Bardakjian, T; Ullah, E; Wu, D; Umeda, K; Lao, R; Tang, P L-F; Wan, E; Madireddy, L; Lyalina, S; Mendelsohn, B A; Dugan, S; Tirch, J; Tischler, R; Harris, J; Clark, M J; Chervitz, S; Patwardhan, A; West, J M; Ursell, P; de Alba Campomanes, A; Schneider, A; Kwok, P-Y; Baranzini, S; Chen, R O

2015-11-01

Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the ACE Exome(TM) (Personalis, Inc; 18 cases) and UCSF Genomics Core (21 cases) to sequence 28 patients with A/M and four patients with varied developmental eye defects. In the 28 patients with A/M, we identified de novo mutations in three patients (OTX2, p.(Gln91His), RARB, p.Arg387Cys and GDF6, p.Ala249Glu) and inherited mutations in STRA6 in two patients. In patients with developmental eye defects, a female with cataracts and cardiomyopathy had a de novo COL4A1 mutation, p.(Gly773Arg), expanding the phenotype associated with COL4A1 to include cardiomyopathy. A male with a chorioretinal defect, microcephaly, seizures and sensorineural deafness had two PNPT1 mutations, p.(Ala507Ser) and c.401-1G>A, and we describe eye defects associated with this gene for the first time. Exome sequencing was efficient for identifying mutations in pathogenic genes for which there is no clinical testing available and for identifying cases that expand phenotypic spectra, such as the PNPT1 and COL4A1-associated disorders described here. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Defectological practise from the perspective of next generation genetics

Directory of Open Access Journals (Sweden)

Mihajlović Nevenka K.

2015-01-01

Full Text Available Defectologists not only discover and study people with certain mental and physical disabilities they also help these people by giving them the opportunity to lead a normal life. From the aspect of modern human and molecular genetics the job of a defectologist should be associated with people who some form of a genetic defect, also known as a 'genetic error'-mutation. This is the reason why a defectologist (in order to be a successful one has to know what is nature and type of the mutation that patient has, in other words he must find out the genetic diagnosis of the patient. However, the practice in our the conditions such as ours is a little different, most of the times the diagnosis is incomplete and does not give information about the true cause of the problem, this means that it gives only information about the symptoms but not about the true origin of the problem. Due to this fact the main focus of a defectologist is to properly diagnose the problem from a genetic perspective. A proper genetic diagnosis involves finding out what genetic mutation lays at the heart of the disease(also the molecular mechanisms of the diseases should be known. This approach has two benefits: (A successful treatment and rehabilitation of the patient and (B figuring out the future perspective of the patient. The genetic diagnosis is discovered by a multidiscipline team of experts: genetic counselors, defectologists, doctors and psychologist. The first step in finding out the genetic diagnosis is evaluating the patient and his/her family, later on we can use a genetic once have an idea that the nature of patients condition is indeed genetic. This is why the education of defectologist is needed in order to for them to know about the genetic factors that influence the appearance and the development of the patient's condition. This form of education should allow defectologist to get a better understanding of the potential of modern genetic techniques in precisely

Neural Tube Defects

Science.gov (United States)

Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the ... that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In ...

Recent advances in preimplantation genetic diagnosis

Directory of Open Access Journals (Sweden)

Kahraman S

2015-04-01

Full Text Available Semra Kahraman, Çağri Beyazyürek, Hüseyin Avni Taç, Caroline Pirkevi, Murat Cetinkaya, Neşe Gülüm IVF and Reproductive Genetics Center, Istanbul Memorial Hospital, Istanbul, Turkey Abstract: Preimplantation genetic diagnosis (PGD is an important method for the identification chromosomal abnormalities and genes responsible for genetic defects in embryos that are created through in vitro fertilization before pregnancy. As the list of conditions and indications for PGD testing is continuing to extend enormously, novel in vitro fertilization techniques and newly established genetic analysis techniques have been implemented in clinical settings in the recent years. Blastocyst-stage biopsy, vitrification techniques, time-lapse imaging, whole-genome amplification, array-based diagnostic techniques, and next-generation sequencing techniques are promising techniques for the accurate diagnosis of diverse genetic conditions and also for the selection of the best embryo that has the highest implantation capacity. The timing and technique used for biopsy, the amplification techniques, the genetic diagnosis techniques, and appropriate genetic counseling play important roles in establishing a successful PGD. In this review, those key points of PGD will be reviewed in detail. Keywords: preimplantation genetic diagnosis, array comparative genomic hybridization, single-nucleotide polymorphism arrays, next-generation sequencing, monogenic disorders, aneuploidy testing 

Genetic determinants of cardiometabolic risk: a proposed model for phenotype association and interaction.

Science.gov (United States)

Blackett, Piers R; Sanghera, Dharambir K

2013-01-01

This review provides a translational and unifying summary of metabolic syndrome genetics and highlights evidence that genetic studies are starting to unravel and untangle origins of the complex and challenging cluster of disease phenotypes. The associated genes effectively express in the brain, liver, kidney, arterial endothelium, adipocytes, myocytes, and β cells. Progression of syndrome traits has been associated with ectopic lipid accumulation in the arterial wall, visceral adipocytes, myocytes, and liver. Thus, it follows that the genetics of dyslipidemia, obesity, and nonalcoholic fatty liver disease are central in triggering progression of the syndrome to overt expression of disease traits and have become a key focus of interest for early detection and for designing prevention and treatments. To support the "birds' eye view" approach, we provide a road-map depicting commonality and interrelationships between the traits and their genetic and environmental determinants based on known risk factors, metabolic pathways, pharmacologic targets, treatment responses, gene networks, pleiotropy, and association with circadian rhythm. Although only a small portion of the known heritability is accounted for and there is insufficient support for clinical application of gene-based prediction models, there is direction and encouraging progress in a rapidly moving field that is beginning to show clinical relevance. Copyright © 2013 National Lipid Association. Published by Elsevier Inc. All rights reserved.

Ab-initio modelling of thermodynamics and kinetics of point defects in indium oxide

International Nuclear Information System (INIS)

Agoston, Peter; Klein, Andreas; Albe, Karsten; Erhart, Paul

2008-01-01

The electrical and optical properties of indium oxide films strongly vary with the processing parameters. Especially the oxygen partial pressure and temperature determine properties like electrical conductivity, composition and transparency. Since this material owes its remarkable properties like the intrinsic n-type conductivity to its defect chemistry, it is important to understand both, the equilibrium defect thermodynamics and kinetics of the intrinsic point defects. In this contribution we present a defect model based on DFT total energy calculations using the GGA+U method. Further, the nudged elastic band method is employed in order to obtain a set of migration barriers for each defect species. Due to the complicated crystal structure of indium oxide a Kinetic Monte-Carlo algorithm was implemented, which allows to determine diffusion coefficients. The bulk tracer diffusion constant is predicted as a function of oxygen partial pressure, Fermi level and temperature for the pure material

Curvature-Controlled Topological Defects

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Luka Mesarec

2017-05-01

Full Text Available Effectively, two-dimensional (2D closed films exhibiting in-plane orientational ordering (ordered shells might be instrumental for the realization of scaled crystals. In them, ordered shells are expected to play the role of atoms. Furthermore, topological defects (TDs within them would determine their valence. Namely, bonding among shells within an isotropic liquid matrix could be established via appropriate nano-binders (i.e., linkers which tend to be attached to the cores of TDs exploiting the defect core replacement mechanism. Consequently, by varying configurations of TDs one could nucleate growth of scaled crystals displaying different symmetries. For this purpose, it is of interest to develop a simple and robust mechanism via which one could control the position and number of TDs in such atoms. In this paper, we use a minimal mesoscopic model, where variational parameters are the 2D curvature tensor and the 2D orientational tensor order parameter. We demonstrate numerically the efficiency of the effective topological defect cancellation mechanism to predict positional assembling of TDs in ordered films characterized by spatially nonhomogeneous Gaussian curvature. Furthermore, we show how one could efficiently switch among qualitatively different structures by using a relative volume v of ordered shells, which represents a relatively simple naturally accessible control parameter.

Non-probabilistic defect assessment for structures with cracks based on interval model

International Nuclear Information System (INIS)

Dai, Qiao; Zhou, Changyu; Peng, Jian; Chen, Xiangwei; He, Xiaohua

2013-01-01

Highlights: • Non-probabilistic approach is introduced to defect assessment. • Definition and establishment of IFAC are put forward. • Determination of assessment rectangle is proposed. • Solution of non-probabilistic reliability index is presented. -- Abstract: Traditional defect assessment methods conservatively treat uncertainty of parameters as safety factors, while the probabilistic method is based on the clear understanding of detailed statistical information of parameters. In this paper, the non-probabilistic approach is introduced to the failure assessment diagram (FAD) to propose a non-probabilistic defect assessment method for structures with cracks. This novel defect assessment method contains three critical processes: establishment of the interval failure assessment curve (IFAC), determination of the assessment rectangle, and solution of the non-probabilistic reliability degree. Based on the interval theory, uncertain parameters such as crack sizes, material properties and loads are considered as interval variables. As a result, the failure assessment curve (FAC) will vary in a certain range, which is defined as IFAC. And the assessment point will vary within a rectangle zone which is defined as an assessment rectangle. Based on the interval model, the establishment of IFAC and the determination of the assessment rectangle are presented. Then according to the interval possibility degree method, the non-probabilistic reliability degree of IFAC can be determined. Meanwhile, in order to clearly introduce the non-probabilistic defect assessment method, a numerical example for the assessment of a pipe with crack is given. In addition, the assessment result of the proposed method is compared with that of the traditional probabilistic method, which confirms that this non-probabilistic defect assessment can reasonably resolve the practical problem with interval variables

Non-probabilistic defect assessment for structures with cracks based on interval model

Energy Technology Data Exchange (ETDEWEB)

Dai, Qiao; Zhou, Changyu, E-mail: changyu_zhou@163.com; Peng, Jian; Chen, Xiangwei; He, Xiaohua

2013-09-15

Highlights: • Non-probabilistic approach is introduced to defect assessment. • Definition and establishment of IFAC are put forward. • Determination of assessment rectangle is proposed. • Solution of non-probabilistic reliability index is presented. -- Abstract: Traditional defect assessment methods conservatively treat uncertainty of parameters as safety factors, while the probabilistic method is based on the clear understanding of detailed statistical information of parameters. In this paper, the non-probabilistic approach is introduced to the failure assessment diagram (FAD) to propose a non-probabilistic defect assessment method for structures with cracks. This novel defect assessment method contains three critical processes: establishment of the interval failure assessment curve (IFAC), determination of the assessment rectangle, and solution of the non-probabilistic reliability degree. Based on the interval theory, uncertain parameters such as crack sizes, material properties and loads are considered as interval variables. As a result, the failure assessment curve (FAC) will vary in a certain range, which is defined as IFAC. And the assessment point will vary within a rectangle zone which is defined as an assessment rectangle. Based on the interval model, the establishment of IFAC and the determination of the assessment rectangle are presented. Then according to the interval possibility degree method, the non-probabilistic reliability degree of IFAC can be determined. Meanwhile, in order to clearly introduce the non-probabilistic defect assessment method, a numerical example for the assessment of a pipe with crack is given. In addition, the assessment result of the proposed method is compared with that of the traditional probabilistic method, which confirms that this non-probabilistic defect assessment can reasonably resolve the practical problem with interval variables.

Defect analysis of NiMnSb epitaxial layers

Energy Technology Data Exchange (ETDEWEB)

Nowicki, L. [Andrzej SoItan Institute for Nuclear Studies, ul. Hoza 69, 00-681 Warsaw (Poland)]. E-mail: lech.nowicki@fuw.edu.pl; Turos, A. [Andrzej SoItan Institute for Nuclear Studies, ul. Hoza 69, 00-681 Warsaw (Poland); Institute of Electronic Materials Technology, Wolczynska 133, 01-919 Warsaw (Poland); Stonert, A. [Andrzej SoItan Institute for Nuclear Studies, ul. Hoza 69, 00-681 Warsaw (Poland); Garrido, F. [Centre de Spectrometrie Nucleaire et Spectrometrie de Masse, CNRS-IN2P3-Universite Paris-Sud, 91405 Orsay (France); Molenkamp, L.W. [Department of Physics, University Wuerzburg, Am Hubland, 97074 Wuerzburg (Germany); Bach, P. [Department of Physics, University Wuerzburg, Am Hubland, 97074 Wuerzburg (Germany); Schmidt, G. [Department of Physics, University Wuerzburg, Am Hubland, 97074 Wuerzburg (Germany); Karczewski, G. [Institute of Physics, Polish Academy of Sciences, Al. Lotnikow 32/46, 02-668 Warsaw (Poland); Muecklich, A. [Forschungszentrum Rossendorf, Institut fuer Ionenstrahlphysik und Materialforschung, POB 510119, 01314 Dresden (Germany)

2005-10-15

NiMnSb layers grown on InP substrates with InGaAs buffer were studied by the backscattering/channeling spectrometry (RBS/C) with He beams. The nature of predominant defects observed in the layers was studied by determination of incident-energy dependence of the relative channeling yield. The defects are described as a combination of large amount of interstitial atoms and of stacking faults or grain boundaries. The presence of grains was confirmed by transmission electron microscopy.

Crystal defect studies using x-ray diffuse scattering

Energy Technology Data Exchange (ETDEWEB)

Larson, B.C.

1980-01-01

Microscopic lattice defects such as point (single atom) defects, dislocation loops, and solute precipitates are characterized by local electronic density changes at the defect sites and by distortions of the lattice structure surrounding the defects. The effect of these interruptions of the crystal lattice on the scattering of x-rays is considered in this paper, and examples are presented of the use of the diffuse scattering to study the defects. X-ray studies of self-interstitials in electron irradiated aluminum and copper are discussed in terms of the identification of the interstitial configuration. Methods for detecting the onset of point defect aggregation into dislocation loops are considered and new techniques for the determination of separate size distributions for vacancy loops and interstitial loops are presented. Direct comparisons of dislocation loop measurements by x-rays with existing electron microscopy studies of dislocation loops indicate agreement for larger size loops, but x-ray measurements report higher concentrations in the smaller loop range. Methods for distinguishing between loops and three-dimensional precipitates are discussed and possibilities for detailed studies considered. A comparison of dislocation loop size distributions obtained from integral diffuse scattering measurements with those from TEM show a discrepancy in the smaller sizes similar to that described above.

Crystal defect studies using x-ray diffuse scattering

International Nuclear Information System (INIS)

Larson, B.C.

1980-01-01

Microscopic lattice defects such as point (single atom) defects, dislocation loops, and solute precipitates are characterized by local electronic density changes at the defect sites and by distortions of the lattice structure surrounding the defects. The effect of these interruptions of the crystal lattice on the scattering of x-rays is considered in this paper, and examples are presented of the use of the diffuse scattering to study the defects. X-ray studies of self-interstitials in electron irradiated aluminum and copper are discussed in terms of the identification of the interstitial configuration. Methods for detecting the onset of point defect aggregation into dislocation loops are considered and new techniques for the determination of separate size distributions for vacancy loops and interstitial loops are presented. Direct comparisons of dislocation loop measurements by x-rays with existing electron microscopy studies of dislocation loops indicate agreement for larger size loops, but x-ray measurements report higher concentrations in the smaller loop range. Methods for distinguishing between loops and three-dimensional precipitates are discussed and possibilities for detailed studies considered. A comparison of dislocation loop size distributions obtained from integral diffuse scattering measurements with those from TEM show a discrepancy in the smaller sizes similar to that described above

The 5-HT2A receptor binding pattern in the human brain is strongly genetically determined

DEFF Research Database (Denmark)

Pinborg, Lars H; Arfan, Haroon; Haugbol, Steven

2007-01-01

With the appropriate radiolabeled tracers, positron emission tomography (PET) enables in vivo human brain imaging of markers for neurotransmission, including neurotransmitter synthesis, receptors, and transporters. Whereas structural imaging studies have provided compelling evidence that the human...... brain anatomy is largely genetically determined, it is currently unknown to what degree neuromodulatory markers are subjected to genetic and environmental influence. Changes in serotonin 2A (5-HT(2A)) receptors have been reported to occur in various neuropsychiatric disorders and an association between...

Interatomic potentials and the simulation of lattice defects in metals

International Nuclear Information System (INIS)

Heugten, W.F.W.M. van.

1979-01-01

The computer simulation technique is applied to investigate the properties of point defects and line defects in metals. For that purpose crystallites are constructed in which these defects are simulated. In the case of line defects (dislocations) the initial positions of the atoms, surrounding the dislocations, are determined using the elastic theory of anisotropic media. Hereafter the atoms in such crystallites are allowed to relax to there minimum potential energy positions under the influence of the interatomic forces. These forces are derived from interatomic interaction potentials. These potentials are together with the boundary conditions of the simulated crystallite the main input data in these computer simulation models. The metals considered include molybdenum, tungsten and tantalum. (Auth.)

Survival and SOS response induction in ultraviolet B irradiated Escherichia coli cells with defective repair mechanisms.

Science.gov (United States)

Prada Medina, Cesar Augusto; Aristizabal Tessmer, Elke Tatjana; Quintero Ruiz, Nathalia; Serment-Guerrero, Jorge; Fuentes, Jorge Luis

2016-06-01

Purpose In this paper, the contribution of different genes involved in DNA repair for both survival and SOS induction in Escherichia coli mutants exposed to ultraviolet B radiation (UVB, [wavelength range 280-315 nm]) was evaluated. Materials and methods E. coli strains defective in uvrA, oxyR, recO, recN, recJ, exoX, recB, recD or xonA genes were used to determine cell survival. All strains also had the genetic sulA::lacZ fusion, which allowed for the quantification of SOS induction through the SOS Chromotest. Results Five gene products were particularly important for survival, as follows: UvrA > RecB > RecO > RecJ > XonA. Strains defective in uvrA and recJ genes showed elevated SOS induction compared with the wild type, which remained stable for up to 240 min after UVB-irradiation. In addition, E. coli strains carrying the recO or recN mutation showed no SOS induction. Conclusions The nucleotide excision and DNA recombination pathways were equally used to repair UVB-induced DNA damage in E. coli cells. The sulA gene was not turned off in strains defective in UvrA and RecJ. RecO protein was essential for processing DNA damage prior to SOS induction. In this study, the roles of DNA repair proteins and their contributions to the mechanisms that induce SOS genes in E. coli are proposed.

Determination of dimension and orientation of almost plane inclined defects with focussed probes

International Nuclear Information System (INIS)

Vadder, D. de; Azou, P.; Saglio, R.; Birac, A.M.

The study of the diffraction of an ultrasonic beam by the edge of a defect is still uncomplete. Nevertheless we show how it can be used to calculate size and orientation of a flaw along its line of steepest gradient [fr

Genetic determination of high productivity in experimental hybrid combinations of sugar beet (Beta vulgaris L.

Directory of Open Access Journals (Sweden)

М. О. Корнєєва

2016-05-01

Full Text Available Purpose. Creation of experimental sugar beet hybrid combinations of high sugar yield values and defining gene­tic determination of their heterotic effect. Methods. Diallel crossing and topcrossing, genetic analysis of quantitative traits. Results. The authors have studied the frequency of occurrence of sugar beet heterotic hybrid combinations for «sugar yield» trait created on the basis of two pollinator lines to be genetically valuable for productivity elements, CMS lines and single-cross sterile hybrids with the use of diallel and topcrossing system of controlled hybridization. The share of parental components’ effect and their interaction in CMS hybrids variability for productivity was determined. Expediency of heterotic forecasting based on high combining ability lines was substabtiated. Promising high-yielding sugar beet combinations were selected that exceeded the group standard by 4.1–16.3%. Conclusions. The theory of genetic balance by M. V. Turbin was confirmed. Such hybrids as [CMS 5OT 4]MGP 1 (116.3%, [CMS 1OT 2]MGP 1 (112.5% and [CMS 3OT 5]MGP 1 (113.2% were recognized as the best for their productivity, MGP 1 and MGP 2 lines – as the best for their combining ability.

Genetic determinants of hair and eye colours in the Scottish and Danish populations

DEFF Research Database (Denmark)

Mengel-From, Jonas; Wong, Terence H; Morling, Niels

2009-01-01

BACKGROUND: Eye and hair colour is highly variable in the European population, and is largely genetically determined. Both linkage and association studies have previously been used to identify candidate genes underlying this variation. Many of the genes found were previously known as underlying...... mutant mouse phenotypes or human genetic disease, but others, previously unsuspected as pigmentation genes, have also been discovered. RESULTS: We assayed the hair of a population of individuals of Scottish origin using tristimulus colorimetry, in order to produce a quantitative measure of hair colour....... Cluster analysis of this data defined two groups, with overlapping borders, which corresponded to visually assessed dark versus red/light hair colour. The Danish population was assigned into categorical hair colour groups. Both cohorts were also assessed for eye colour. DNA from the Scottish group...

Discriminant Analysis of Defective and Non-Defective Field Pea (Pisum sativum L.) into Broad Market Grades Based on Digital Image Features.

Science.gov (United States)

McDonald, Linda S; Panozzo, Joseph F; Salisbury, Phillip A; Ford, Rebecca

2016-01-01

Field peas (Pisum sativum L.) are generally traded based on seed appearance, which subjectively defines broad market-grades. In this study, we developed an objective Linear Discriminant Analysis (LDA) model to classify market grades of field peas based on seed colour, shape and size traits extracted from digital images. Seeds were imaged in a high-throughput system consisting of a camera and laser positioned over a conveyor belt. Six colour intensity digital images were captured (under 405, 470, 530, 590, 660 and 850nm light) for each seed, and surface height was measured at each pixel by laser. Colour, shape and size traits were compiled across all seed in each sample to determine the median trait values. Defective and non-defective seed samples were used to calibrate and validate the model. Colour components were sufficient to correctly classify all non-defective seed samples into correct market grades. Defective samples required a combination of colour, shape and size traits to achieve 87% and 77% accuracy in market grade classification of calibration and validation sample-sets respectively. Following these results, we used the same colour, shape and size traits to develop an LDA model which correctly classified over 97% of all validation samples as defective or non-defective.

Defective glycinergic synaptic transmission in zebrafish motility mutants

Directory of Open Access Journals (Sweden)

Hiromi Hirata

2010-01-01

Full Text Available Glycine is a major inhibitory neurotransmitter in the spinal cord and brainstem. Recently, in vivo analysis of glycinergic synaptic transmission has been pursued in zebrafish using molecular genetics. An ENU mutagenesis screen identified two behavioral mutants that are defective in glycinergic synaptic transmission. Zebrafish bandoneon (beo mutants have a defect in glrbb, one of the duplicated glycine receptor (GlyR β subunit genes. These mutants exhibit a loss of glycinergic synaptic transmission due to a lack of synaptic aggregation of GlyRs. Due to the consequent loss of reciprocal inhibition of motor circuits between the two sides of the spinal cord, motor neurons activate simultaneously on both sides resulting in bilateral contraction of axial muscles of beo mutants, eliciting the so-called ‘accordion’ phenotype. Similar defects in GlyR subunit genes have been observed in several mammals and are the basis for human hyperekplexia/startle disease. By contrast, zebrafish shocked (sho mutants have a defect in slc6a9, encoding GlyT1, a glycine transporter that is expressed by astroglial cells surrounding the glycinergic synapse in the hindbrain and spinal cord. GlyT1 mediates rapid uptake of glycine from the synaptic cleft, terminating synaptic transmission. In zebrafish sho mutants, there appears to be elevated extracellular glycine resulting in persistent inhibition of postsynaptic neurons and subsequent reduced motility, causing the ‘twitch once’ phenotype. We review current knowledge regarding zebrafish ‘accordion’ and ‘twitch once’ mutants, including beo and sho, and report the identification of a new α2 subunit that revises the phylogeny of zebrafish GlyRs.

Defective Glycinergic Synaptic Transmission in Zebrafish Motility Mutants

Science.gov (United States)

Hirata, Hiromi; Carta, Eloisa; Yamanaka, Iori; Harvey, Robert J.; Kuwada, John Y.

2009-01-01

Glycine is a major inhibitory neurotransmitter in the spinal cord and brainstem. Recently, in vivo analysis of glycinergic synaptic transmission has been pursued in zebrafish using molecular genetics. An ENU mutagenesis screen identified two behavioral mutants that are defective in glycinergic synaptic transmission. Zebrafish bandoneon (beo) mutants have a defect in glrbb, one of the duplicated glycine receptor (GlyR) β subunit genes. These mutants exhibit a loss of glycinergic synaptic transmission due to a lack of synaptic aggregation of GlyRs. Due to the consequent loss of reciprocal inhibition of motor circuits between the two sides of the spinal cord, motor neurons activate simultaneously on both sides resulting in bilateral contraction of axial muscles of beo mutants, eliciting the so-called ‘accordion’ phenotype. Similar defects in GlyR subunit genes have been observed in several mammals and are the basis for human hyperekplexia/startle disease. By contrast, zebrafish shocked (sho) mutants have a defect in slc6a9, encoding GlyT1, a glycine transporter that is expressed by astroglial cells surrounding the glycinergic synapse in the hindbrain and spinal cord. GlyT1 mediates rapid uptake of glycine from the synaptic cleft, terminating synaptic transmission. In zebrafish sho mutants, there appears to be elevated extracellular glycine resulting in persistent inhibition of postsynaptic neurons and subsequent reduced motility, causing the ‘twitch-once’ phenotype. We review current knowledge regarding zebrafish ‘accordion’ and ‘twitch-once’ mutants, including beo and sho, and report the identification of a new α2 subunit that revises the phylogeny of zebrafish GlyRs. PMID:20161699

Ion channeling study of defects in compound crystals using Monte Carlo simulations

Science.gov (United States)

Turos, A.; Jozwik, P.; Nowicki, L.; Sathish, N.

2014-08-01

Ion channeling is a well-established technique for determination of structural properties of crystalline materials. Defect depth profiles have been usually determined basing on the two-beam model developed by Bøgh (1968) [1]. As long as the main research interest was focused on single element crystals it was considered as sufficiently accurate. New challenge emerged with growing technological importance of compound single crystals and epitaxial heterostructures. Overlap of partial spectra due to different sublattices and formation of complicated defect structures makes the two beam method hardly applicable. The solution is provided by Monte Carlo computer simulations. Our paper reviews principal aspects of this approach and the recent developments in the McChasy simulation code. The latter made it possible to distinguish between randomly displaced atoms (RDA) and extended defects (dislocations, loops, etc.). Hence, complex defect structures can be characterized by the relative content of these two components. The next refinement of the code consists of detailed parameterization of dislocations and dislocation loops. Defect profiles for variety of compound crystals (GaN, ZnO, SrTiO3) have been measured and evaluated using the McChasy code. Damage accumulation curves for RDA and extended defects revealed non monotonous defect buildup with some characteristic steps. Transition to each stage is governed by the different driving force. As shown by the complementary high resolution XRD measurements lattice strain plays here the crucial role and can be correlated with the concentration of extended defects.

Supervised chaos genetic algorithm based state of charge determination for LiFePO4 batteries in electric vehicles

Science.gov (United States)

Shen, Yanqing

2018-04-01

LiFePO4 battery is developed rapidly in electric vehicle, whose safety and functional capabilities are influenced greatly by the evaluation of available cell capacity. Added with adaptive switch mechanism, this paper advances a supervised chaos genetic algorithm based state of charge determination method, where a combined state space model is employed to simulate battery dynamics. The method is validated by the experiment data collected from battery test system. Results indicate that the supervised chaos genetic algorithm based state of charge determination method shows great performance with less computation complexity and is little influenced by the unknown initial cell state.

Ciliopathies: Genetics in Pediatric Medicine.

Science.gov (United States)

Oud, Machteld M; Lamers, Ideke J C; Arts, Heleen H

2017-03-01

Ciliary disorders , which are also referred to as ciliopathies , are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings. Ciliary disruption can result in a wide variety of clinically and genetically heterogeneous disorders with overlapping phenotypes. Because cilia occur widespread in our bodies many organs and sensory systems can be affected when they are dysfunctional. Ciliary disorders may be isolated or syndromic, and common features are cystic liver and/or kidney disease, blindness, neural tube defects, brain anomalies and intellectual disability, skeletal abnormalities ranging from polydactyly to abnormally short ribs and limbs, ectodermal defects, obesity, situs inversus , infertility, and recurrent respiratory tract infections. In this review, we summarize the features, frequency, morbidity, and mortality of each of the different ciliopathies that occur in pediatrics. The importance of genetics and the occurrence of genotype-phenotype correlations are indicated, and advances in gene identification are discussed. The use of next-generation sequencing by which a gene panel or all genes can be screened in a single experiment is highlighted as this technology significantly lowered costs and time of the mutation detection process in the past. We discuss the challenges of this new technology and briefly touch upon the use of whole-exome sequencing as a diagnostic test for ciliary disorders. Finally, a perspective on the future of genetics in the context of ciliary disorders is provided.

Defect phase diagram for doping of Ga2O3

OpenAIRE

Stephan Lany

2018-01-01

For the case of n-type doping of β-Ga2O3 by group 14 dopants (C, Si, Ge, Sn), a defect phase diagram is constructed from defect equilibria calculated over a range of temperatures (T), O partial pressures (pO2), and dopant concentrations. The underlying defect levels and formation energies are determined from first-principles supercell calculations with GW bandgap corrections. Only Si is found to be a truly shallow donor, C is a deep DX-like (lattice relaxed donor) center, and Ge and Sn have d...

[Advance in the methods of preimplantation genetic diagnosis for single gene diseases].

Science.gov (United States)

Ren, Yixin; Qiao, Jie; Yan, Liying

2017-06-10

More than 7000 single gene diseases have been identified and most of them lack effective treatment. As an early form of prenatal diagnosis, preimplantation genetic diagnosis (PGD) is a combination of in vitro fertilization and genetic diagnosis. PGD has been applied in clinics for more than 20 years to avoid the transmission of genetic defects through analysis of embryos at early stages of development. In this paper, a review for the recent advances in PGD for single gene diseases is provided.

Relationship between defect density and charge carrier transport in amorphous and microcrystalline silicon

International Nuclear Information System (INIS)

Astakhov, Oleksandr; Carius, Reinhard; Finger, Friedhelm; Petrusenko, Yuri; Borysenko, Valery; Barankov, Dmytro

2009-01-01

The influence of dangling-bond defects and the position of the Fermi level on the charge carrier transport properties in undoped and phosphorous doped thin-film silicon with structure compositions all the way from highly crystalline to amorphous is investigated. The dangling-bond density is varied reproducibly over several orders of magnitude by electron bombardment and subsequent annealing. The defects are investigated by electron-spin-resonance and photoconductivity spectroscopies. Comparing intrinsic amorphous and microcrystalline silicon, it is found that the relationship between defect density and photoconductivity is different in both undoped materials, while a similar strong influence of the position of the Fermi level on photoconductivity via the charge carrier lifetime is found in the doped materials. The latter allows a quantitative determination of the value of the transport gap energy in microcrystalline silicon. The photoconductivity in intrinsic microcrystalline silicon is, on one hand, considerably less affected by the bombardment but, on the other hand, does not generally recover with annealing of the defects and is independent from the spin density which itself can be annealed back to the as-deposited level. For amorphous silicon and material prepared close to the crystalline growth regime, the results for nonequilibrium transport fit perfectly to a recombination model based on direct capture into neutral dangling bonds over a wide range of defect densities. For the heterogeneous microcrystalline silicon, this model fails completely. The application of photoconductivity spectroscopy in the constant photocurrent mode (CPM) is explored for the entire structure composition range over a wide variation in defect densities. For amorphous silicon previously reported linear correlation between the spin density and the subgap absorption is confirmed for defect densities below 10 18 cm -3 . Beyond this defect level, a sublinear relation is found i.e., not

Synthetic Genetic Targeting of Genome Instability in Cancer

International Nuclear Information System (INIS)

Sajesh, Babu V.; Guppy, Brent J.; McManus, Kirk J.

2013-01-01

Cancer is a leading cause of death throughout the World. A limitation of many current chemotherapeutic approaches is that their cytotoxic effects are not restricted to cancer cells, and adverse side effects can occur within normal tissues. Consequently, novel strategies are urgently needed to better target cancer cells. As we approach the era of personalized medicine, targeting the specific molecular defect(s) within a given patient’s tumor will become a more effective treatment strategy than traditional approaches that often target a given cancer type or sub-type. Synthetic genetic interactions are now being examined for their therapeutic potential and are designed to target the specific genetic and epigenetic phenomena associated with tumor formation, and thus are predicted to be highly selective. In general, two complementary approaches have been employed, including synthetic lethality and synthetic dosage lethality, to target aberrant expression and/or function associated with tumor suppressor genes and oncogenes, respectively. Here we discuss the concepts of synthetic lethality and synthetic dosage lethality, and explain three general experimental approaches designed to identify novel genetic interactors. We present examples and discuss the merits and caveats of each approach. Finally, we provide insight into the subsequent pre-clinical work required to validate novel candidate drug targets

Genetics of Gigantism and Acromegaly

Science.gov (United States)

Hannah-Shmouni, Fady; Trivellin, Giampaolo; Stratakis, Constantine A.

2016-01-01

Gigantism and acromegaly are rare disorders that are caused by excessive GH secretion and/or high levels of its mediator, IGF-1. Gigantism occurs when excess GH or IGF-1 lead to increased linear growth, before the end of puberty and epiphyseal closure. The majority of cases arise from a benign GH-secreting pituitary adenoma, with an incidence of pituitary gigantism and acromegaly of approximately 8 and 11 per million person-years, respectively. Over the past two decades, our increasing understanding of the molecular and genetic etiologies of pituitary gigantism and acromegaly yielded several genetic causes, including multiple endocrine neoplasia type 1 and 4, McCune-Albright syndrome, Carney complex, familial isolated pituitary adenoma, pituitary adenoma association due to defects in familial succinate dehydrogenase genes, and the recently identified X-linked acrogigantism. The early diagnosis of these conditions helps guide early intervention, screening, and genetic counseling of patients and their family members. In this review, we provide a concise and up-to-date discussion on the genetics of gigantism and acromegaly. PMID:27657986

Genetics of gigantism and acromegaly.

Science.gov (United States)

Hannah-Shmouni, Fady; Trivellin, Giampaolo; Stratakis, Constantine A

Gigantism and acromegaly are rare disorders that are caused by excessive GH secretion and/or high levels of its mediator, IGF-1. Gigantism occurs when excess GH or IGF-1 lead to increased linear growth, before the end of puberty and epiphyseal closure. The majority of cases arise from a benign GH-secreting pituitary adenoma, with an incidence of pituitary gigantism and acromegaly of approximately 8 and 11 per million person-years, respectively. Over the past two decades, our increasing understanding of the molecular and genetic etiologies of pituitary gigantism and acromegaly yielded several genetic causes, including multiple endocrine neoplasia type 1 and 4, McCune-Albright syndrome, Carney complex, familial isolated pituitary adenoma, pituitary adenoma association due to defects in familial succinate dehydrogenase genes, and the recently identified X-linked acrogigantism. The early diagnosis of these conditions helps guide early intervention, screening, and genetic counseling of patients and their family members. In this review, we provide a concise and up-to-date discussion on the genetics of gigantism and acromegaly. Published by Elsevier Ltd.

Surface concentration of defects at grain boundaries in sintered alumina determined by positron annihilation lifetime spectroscopy

International Nuclear Information System (INIS)

Kansy, J.; Ahmad, A.Si.; Moya, G.; Liebault, J.

2001-01-01

Sintered alumina samples of grain diameters spanning from 1.2 to 4.5 μm have been investigated by positron annihilation lifetime spectroscopy. One series of samples was produced from material containing about 150 ppm impurities (mainly SiO 2 ). The second one was made from material having about 2700 ppm of various elements (SiO 2 , MgO, CaO). Two models of positron trapping at grain boundaries are compared: The first one relates to the diffusion-limited regime; and the other one - to the transmission-limited regime of trapping. As a results of relative change of surface concentration of defects at grain boundaries is determined. Additionally, positron diffusion constant in bulk alumina at room temperature, D + = 0.36 ± 10 cm 2 /s, is estimated. (author)

Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia

Directory of Open Access Journals (Sweden)

Stefan Gysin

2015-05-01

Full Text Available Focal dermal hypoplasia (FDH is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue derived from meso- and ectoderm can be affected. Patients suffer from cutaneous, ocular, osseous, oral and dental defects. The skin and dental alterations manifest along the Blaschko lines. We present a woman (born in 1962 suffering from FDH with congenital skin changes and Blaschko linear enamel defects. Typical symptoms (e.g. fat herniations, scoliosis, syndactyly, microphthalmia, caries and alopecia plus vertical grooving of all teeth gave a first indication. Molecular genetic testing confirmed the definitive diagnosis of FDH. We hypothesize that, in the context of typical skin changes, visible Blaschko lines on the teeth in the form of vertical grooves are almost pathognomonic for FDH.

On holographic defect entropy

International Nuclear Information System (INIS)

Estes, John; Jensen, Kristan; O’Bannon, Andy; Tsatis, Efstratios; Wrase, Timm

2014-01-01

We study a number of (3+1)- and (2+1)-dimensional defect and boundary conformal field theories holographically dual to supergravity theories. In all cases the defects or boundaries are planar, and the defects are codimension-one. Using holography, we compute the entanglement entropy of a (hemi-)spherical region centered on the defect (boundary). We define defect and boundary entropies from the entanglement entropy by an appropriate background subtraction. For some (3+1)-dimensional theories we find evidence that the defect/boundary entropy changes monotonically under certain renormalization group flows triggered by operators localized at the defect or boundary. This provides evidence that the g-theorem of (1+1)-dimensional field theories generalizes to higher dimensions

Population stochasticity, random determination of handedness, and the genetic basis of antisymmetry.

Science.gov (United States)

Kamimura, Yoshitaka

2011-12-07

Conspicuous lateral asymmetries of organisms are classified into two major categories: antisymmetry (AS), characterized by almost equal frequencies of dextral and sinistral morphs, and directional asymmetry (DA), in which one morph dominates. I compared and characterized two types of genes, both with existing examples, in their roles in the evolutionary transitions between AS and DA for the first time. Handedness genes (HGs) determine the chirality in a strict sense, while randomization genes (RGs) randomize the chirality. A theory predicts that, in an AS population maintained by HGs under negative frequency-dependent selection, RGs harness fluctuation of the morph frequencies as their driving force and thus increase their frequency until half of the population flips the phenotype. These predictions were confirmed by simulations. Consequently, RGs mask the genetic effects of HGs, which provides a possible explanation for the apparent lack of a genetic basis for AS in empirical AS studies. Copyright © 2011 Elsevier Ltd. All rights reserved.

Genetic Determinants of Cardio-Metabolic Risk: A Proposed Model for Phenotype Association and Interaction

Science.gov (United States)

Blackett, Piers R; Sanghera, Dharambir K

2012-01-01

This review provides a translational and unifying summary of metabolic syndrome genetics and highlights evidence that genetic studies are starting to unravel and untangle origins of the complex and challenging cluster of disease phenotypes. The associated genes effectively express in the brain, liver, kidney, arterial endothelium, adipocytes, myocytes and β cells. Progression of syndrome traits has been associated with ectopic lipid accumulation in the arterial wall, visceral adipocytes, myocytes, and liver. Thus it follows that the genetics of dyslipidemia, obesity, and non-alcoholic fatty liver (NAFLD) disease are central in triggering progression of the syndrome to overt expression of disease traits, and have become a key focus of interest for early detection and for designing prevention and treatments. To support the “birds’ eye view” approach we provide a road-map depicting commonality and interrelationships between the traits and their genetic and environmental determinants based on known risk factors, metabolic pathways, pharmacological targets, treatment responses, gene networks, pleiotropy, and association with circadian rhythm. Although only a small portion of the known heritability is accounted for and there is insufficient support for clinical application of gene-based prediction models, there is direction and encouraging progress in a rapidly moving field that is beginning to show clinical relevance. PMID:23351585

Teachers' Conceptions about the Genetic Determinism of Human Behaviour: A Survey in 23 Countries

Science.gov (United States)

Castéra, Jérémy; Clément, Pierre

2014-01-01

This work analyses the answers to a questionnaire from 8,285 in-service and pre-service teachers from 23 countries, elaborated by the Biohead-Citizen research project, to investigate teachers' conceptions related to the genetic determinism of human behaviour. A principal components analysis is used to assess the main trends in all the interviewed…

Oil defect detection of electrowetting display

Science.gov (United States)

Chiang, Hou-Chi; Tsai, Yu-Hsiang; Yan, Yung-Jhe; Huang, Ting-Wei; Mang, Ou-Yang

2015-08-01

In recent years, transparent display is an emerging topic in display technologies. Apply in many fields just like mobile device, shopping or advertising window, and etc. Electrowetting Display (EWD) is one kind of potential transparent display technology advantages of high transmittance, fast response time, high contrast and rich color with pigment based oil system. In mass production process of Electrowetting Display, oil defects should be found by Automated Optical Inspection (AOI) detection system. It is useful in determination of panel defects for quality control. According to the research of our group, we proposed a mechanism of AOI detection system detecting the different kinds of oil defects. This mechanism can detect different kinds of oil defect caused by oil overflow or material deteriorated after oil coating or driving. We had experiment our mechanism with a 6-inch Electrowetting Display panel from ITRI, using an Epson V750 scanner with 1200 dpi resolution. Two AOI algorithms were developed, which were high speed method and high precision method. In high precision method, oil jumping or non-recovered can be detected successfully. This mechanism of AOI detection system can be used to evaluate the oil uniformity in EWD panel process. In the future, our AOI detection system can be used in quality control of panel manufacturing for mass production.

Genetic Determinants of High-Level Oxacillin Resistance in Methicillin-Resistant Staphylococcus aureus.

Science.gov (United States)

Pardos de la Gandara, Maria; Borges, Vitor; Chung, Marilyn; Milheiriço, Catarina; Gomes, João Paulo; de Lencastre, Herminia; Tomasz, Alexander

2018-06-01

Methicillin-resistant Staphylococcus aureus (MRSA) strains carry either a mecA - or a mecC -mediated mechanism of resistance to beta-lactam antibiotics, and the phenotypic expression of resistance shows extensive strain-to-strain variation. In recent communications, we identified the genetic determinants associated with the stringent stress response that play a major role in the antibiotic resistant phenotype of the historically earliest "archaic" clone of MRSA and in the mecC -carrying MRSA strain LGA251. Here, we sought to test whether or not the same genetic determinants also contribute to the resistant phenotype of highly and homogeneously resistant (H*R) derivatives of a major contemporary MRSA clone, USA300. We found that the resistance phenotype was linked to six genes ( fruB , gmk , hpt , purB , prsA , and relA ), which were most frequently targeted among the analyzed 20 H*R strains (one mutation per clone in 19 of the 20 H*R strains). Besides the strong parallels with our previous findings (five of the six genes matched), all but one of the repeatedly targeted genes were found to be linked to guanine metabolism, pointing to the key role that this pathway plays in defining the level of antibiotic resistance independent of the clonal type of MRSA. Copyright © 2018 American Society for Microbiology.

Genetic parameters of methane emissions determined using portable accumulation chambers in lambs and ewes grazing pasture and genetic correlations with emissions determined in respiration chambers.

Science.gov (United States)

Jonker, A; Hickey, S M; Rowe, S J; Janssen, P H; Shackell, G; Elmes, S; Bain, W E; Wing, J; Greer, G J; Bryson, B; MacLean, S; Dodds, K G; Pinares-Patiño, C S; Young, E A; Knowler, K; Pickering, N K; McEwan, J C

2018-05-07

Methane (CH4) emission traits were previously found to be heritable and repeatable in sheep fed alfalfa pellets in respiration chambers (RC). More rapid screening methods are, however, required to increase genetic progress and to provide a cost effective method to the farming industry for maintaining the generation of breeding values in the future. The objective of the current study was to determine CH4 and carbon dioxide (CO2) emissions using several one-hour portable accumulation chamber (PAC) measurements from lambs and again as ewes, while grazing ryegrass based pasture. Many animals with PAC measurements were also measured in RC while fed alfalfa pellets at 2.0 × maintenance metabolizable energy requirements (MEm). Heritability estimates from mixed models for CH4 and CO2 production (g/d) were 0.19 and 0.16, respectively, when measured using PAC with lambs; 0.20 and 0.27, respectively, when measured using PAC with ewes; and 0.23 and 0.34, respectively, when measured using RC with lambs. For measured gas traits, repeatabilities of measurements collected 14 days apart ranged from 0.33 to 0.55 for PAC (combined lambs and ewes) and were greater at 0.65 to 0.76 for the same traits measured using RC. Genetic correlations (rg) between PAC in lambs and ewes were 0.99 for CH4, 0.93 for CH4+CO2 and 0.85 for CH4/(CH4+CO2), suggesting CH4 emissions in lambs and ewes are the same trait. Genetic correlations between PAC and RC measurements were lower, at 0.62 to 0.67 for CH4 and 0.41 to 0.42 for CH4+CO2, likely reflecting different environmental conditions associated with the protocols used with the two measurement methods. The CH4/(CH4+CO2) ratio was the most similar genetic trait measured using PAC (both lambs and ewes, 63 and 66% selection efficiency, respectively) compared with CH4 yield (g/kg DMI) measured using RC. These results suggest that PAC measurements have considerable value as a rapid low cost method to estimate breeding values for CH4 emissions in sheep.

Structure and flux pinning properties of irradiation defects in YBa2Cu3O7-x

International Nuclear Information System (INIS)

Kirk, M.A.

1992-06-01

We review our investigations of defects produced in YBa 2 Cu 3 O 7-x by various forms of irradiation. The defect microstructure has been studied by transmission electron microscopy (TEM). Irradiation enhancements of flux pinning have been studied by SQUID magnetometry on single crystals. In many cases the same single crystals were used in both TEM and SQUID investigations. The primary atom recoil spectra for all the irradiations studied have been carefully calculated and used to correlate the TEM and magnetization results for the different types of irradiation. Correlation of annealing experiments, employing both TEM and SQUID measurements, among several types of irradiation has also yielded information on the different defect structures present. Defect densities, sizes and strain field anisotropies have been determined by TEM. Defect flux pinning anisotropies have been determined for two field orientations in twinned single crystals. The temperature dependences of the flux pinning have been measured. The maximum field of irreversibility at 70 K is shown to change markedly upon both neutron and proton irradiations in some crystals and not others. The defect structure, chemistry and location in the unit cell has been determined in some cases. Some interaction with existing defect structure has been observed in proton and electron irradiations. The damage character and directionality has been determined in GeV ion irradiated crystals

Structure, stability and mobility of point defects in hexagonal close packed zirconium: an ab initio study

International Nuclear Information System (INIS)

Verite, G.

2007-09-01

This research aims at determining, by means of DFT (density functional theory) electronic structure computations, the structure, the stability, and the mobility of isolated point defects, lack defects, auto-interstitial defects, or small aggregate defects in the compact hexagonal zirconium (hc Zr). After a literature survey on the studied materials and a review of computer simulation methods in material science, the author presents and comments the available results from experiments or simulations on point defects in hc Zr. He presents the growth phenomenon under radiation. Then, he briefly described the computing techniques used in this study, reports the determination of the network parameters and elastic constants of each material. He reports and comments the results obtained with the SIESTA code and with a Monte Carlo kinetic simulation. The different types of defects are investigated

Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.

Science.gov (United States)

Garçon, Loïc; Ge, Jingping; Manjunath, Shwetha H; Mills, Jason A; Apicella, Marisa; Parikh, Shefali; Sullivan, Lisa M; Podsakoff, Gregory M; Gadue, Paul; French, Deborah L; Mason, Philip J; Bessler, Monica; Weiss, Mitchell J

2013-08-08

Diamond Blackfan anemia (DBA) is a congenital disorder with erythroid (Ery) hypoplasia and tissue morphogenic abnormalities. Most DBA cases are caused by heterozygous null mutations in genes encoding ribosomal proteins. Understanding how haploinsufficiency of these ubiquitous proteins causes DBA is hampered by limited availability of tissues from affected patients. We generated induced pluripotent stem cells (iPSCs) from fibroblasts of DBA patients carrying mutations in RPS19 and RPL5. Compared with controls, DBA fibroblasts formed iPSCs inefficiently, although we obtained 1 stable clone from each fibroblast line. RPS19-mutated iPSCs exhibited defects in 40S (small) ribosomal subunit assembly and production of 18S ribosomal RNA (rRNA). Upon induced differentiation, the mutant clone exhibited globally impaired hematopoiesis, with the Ery lineage affected most profoundly. RPL5-mutated iPSCs exhibited defective 60S (large) ribosomal subunit assembly, accumulation of 12S pre-rRNA, and impaired erythropoiesis. In both mutant iPSC lines, genetic correction of ribosomal protein deficiency via complementary DNA transfer into the "safe harbor" AAVS1 locus alleviated abnormalities in ribosome biogenesis and hematopoiesis. Our studies show that pathological features of DBA are recapitulated by iPSCs, provide a renewable source of cells to model various tissue defects, and demonstrate proof of principle for genetic correction strategies in patient stem cells.

Genetic mutations associated with status epilepticus.

Science.gov (United States)

Bhatnagar, M; Shorvon, S

2015-08-01

This paper reports the results of a preliminary search of the literature aimed at identifying the genetic mutations reported to be strongly associated with status epilepticus. Genetic mutations were selected for inclusion if status epilepticus was specifically mentioned as a consequence of the mutation in standard genetic databases or in a case report or review article. Mutations in 122 genes were identified. The genetic mutations identified were found in only rare conditions (sometimes vanishingly rare) and mostly in infants and young children with multiple other handicaps. Most of the genetic mutations can be subdivided into those associated with cortical dysplasias, inborn errors of metabolism, mitochondrial disease, or epileptic encephalopathies and childhood syndromes. There are no identified 'pure status epilepticus genes'. The range of genes underpinning status epilepticus differs in many ways from the range of genes underpinning epilepsy, which suggests that the processes underpinning status epilepticus differ from those underpinning epilepsy. It has been frequently postulated that status epilepticus is the result of a failure of 'seizure termination mechanisms', but the wide variety of genes affecting very diverse biochemical pathways identified in this survey makes any unitary cause unlikely. The genetic influences in status epilepticus are likely to involve a wide range of mechanisms, some related to development, some to cerebral energy production, some to diverse altered biochemical pathways, some to transmitter and membrane function, and some to defects in networks or systems. The fact that many of the identified genes are involved with cerebral development suggests that status epilepticus might often be a system or network phenomenon. To date, there are very few genes identified which are associated with adult-onset status epilepticus (except in those with preexisting neurological damage), and this is disappointing as the cause of many adult

Use of the piezoelectric film for the determination of cracks and defects - the passive and active electric potential CT method

International Nuclear Information System (INIS)

Kubo, S; Sakagami, T; Suzuki, T; Maeda, T; Nakatani, K

2008-01-01

The passive and active electric potential CT method was proposed by using piezoelectric film for identification of cracks and defects. This method is based on the principle of mutual conversion between mechanical strains and electric potential of piezoelectric material. A smart-layer was constructed using the piezoelectric film, and attached on a structure with a defect. When the structure was subjected to a mechanical load, the electric potential distribution appeared passively on the piezoelectric film due to the direct piezoelectric effect. The defect can be identified from the distribution with the help of inverse analysis. It was found that the crack could be identified reasonably, although the defect depth was not well estimated for the defects located far from the layer. When the electric signal was input to the smart-layer, acoustic wave was actively emitted from the layer due to the inverse piezoelectric effect, and a reflected wave was received on the layer. It was found that the depth of the defect could be estimated well. The simultaneous use of the passive method and the active method is promising for the identification of the defect.

Biochemical and genetic diagnosis of Smith-Lemli- Opitz syndrome ...

African Journals Online (AJOL)

The clinical spectrum of manifestations is broad, ... delay as well as selfinjurious behaviour and autism are reported. ... recessive disorder that is more common than other defects in cholesterol biosynthesis. ... To perform biochemical and genetic workups in four South African families of European ancestry with suspected ...

Researcher responsibilities and genetic counseling for pure-bred dog populations.

Science.gov (United States)

Bell, Jerold S

2011-08-01

Breeders of dogs have ethical responsibilities regarding the testing and management of genetic disease. Molecular genetics researchers have their own responsibilities, highlighted in this article. Laboratories offering commercial genetic testing should have proper sample identification and quality control, official test result certificates, clear explanations of test results and reasonably priced testing fees. Providing test results to a publicly-accessible genetic health registry allows breeders and the public to search for health-tested parents to reduce the risk of producing or purchasing affected offspring. Counseling on the testing and elimination of defective genes must consider the effects of genetic selection on the population. Recommendations to breed quality carriers to normal-testing dogs and replacing them with quality normal-testing offspring will help to preserve breeding lines and breed genetic diversity. Copyright © 2011 Elsevier Ltd. All rights reserved.

Defects in semiconductors

CERN Document Server

Romano, Lucia; Jagadish, Chennupati

2015-01-01

This volume, number 91 in the Semiconductor and Semimetals series, focuses on defects in semiconductors. Defects in semiconductors help to explain several phenomena, from diffusion to getter, and to draw theories on materials' behavior in response to electrical or mechanical fields. The volume includes chapters focusing specifically on electron and proton irradiation of silicon, point defects in zinc oxide and gallium nitride, ion implantation defects and shallow junctions in silicon and germanium, and much more. It will help support students and scientists in their experimental and theoret

Finite volume form factors in the presence of integrable defects

International Nuclear Information System (INIS)

Bajnok, Z.; Buccheri, F.; Hollo, L.; Konczer, J.; Takacs, G.

2014-01-01

We developed the theory of finite volume form factors in the presence of integrable defects. These finite volume form factors are expressed in terms of the infinite volume form factors and the finite volume density of states and incorporate all polynomial corrections in the inverse of the volume. We tested our results, in the defect Lee–Yang model, against numerical data obtained by truncated conformal space approach (TCSA), which we improved by renormalization group methods adopted to the defect case. To perform these checks we determined the infinite volume defect form factors in the Lee–Yang model exactly, including their vacuum expectation values. We used these data to calculate the two point functions, which we compared, at short distance, to defect CFT. We also derived explicit expressions for the exact finite volume one point functions, which we checked numerically. In all of these comparisons excellent agreement was found

An application of gold diffusion for defect investigation in silicon

International Nuclear Information System (INIS)

Feklisova, O.V.; Yakimov, E.B.

2009-01-01

The application of gold diffusion for defect investigation in Si is illustrated by the diffusion experiments carried out on crystals containing grown-in or specially introduced defects. The efficiency of gold diffusion experiments for monitoring the concentration and spatial distribution of these defects is shown. The effect of vacancy type defects on gold diffusion is illustrated by investigations of nitrogen-doped FZ Si and of Cz Si after rapid thermal annealing. In both these cases the gold depth profile is distinctive for trap limited diffusion. The effect of sinks for self-interstitials on gold diffusion is illustrated by the results obtained on the plastically deformed Si. It is shown that in silicon deformed at relatively low temperatures the gold diffusion is to a great extent determined by the defects in the dislocation trails while in high temperature deformed Si the sinks for self-interstitials are associated with dislocations themselves.

[Unaffected child born following preimplantation genetic diagnosis with karyomapping].

Science.gov (United States)

Nánássy, László; Téglás, Gyöngyvér; Csenki, Marianna; Vereczkey, Attila

2016-12-01

Preimplantation genetic diagnosis for single gene defects is a well established method in assisted reproductive technologies. Karyomapping is a genome wide parental haplotyping using a high density single nucleotide polymorphism array that allows the diagnosis of any single gene defects. A couple with an affected child with primary congenital glaucoma attended at our clinic. Six oocyte-cumulus-complex was retrieved and all three mature oocytes were inseminated. One zygote showed the signs of normal fertilization and was cultured for five days. Trophectoderm biopsy and karyomapping analysis were carried out. Result showed a heterozygous carrier for primary congenital glaucoma. Embryo was thawed and transferred and a healthy girl was delivered at term. Here we report the first live birth following in vitro fertilization combined with preimplantation genetic diagnosis using karyomapping in Hungary. Karyomapping is able to accurately detect single gene disorders from a limited amount of samples without a significant preclinical workup. Orv. Hetil., 2016, 157(51), 2048-2050.

Patterns of DNA methylation in development, division of labor and hybridization in an ant with genetic caste determination.

Directory of Open Access Journals (Sweden)

Chris R Smith

Full Text Available BACKGROUND: DNA methylation is a common regulator of gene expression, including acting as a regulator of developmental events and behavioral changes in adults. Using the unique system of genetic caste determination in Pogonomyrmex barbatus, we were able to document changes in DNA methylation during development, and also across both ancient and contemporary hybridization events. METHODOLOGY/PRINCIPAL FINDINGS: Sodium bisulfite sequencing demonstrated in vivo methylation of symmetric CG dinucleotides in P. barbatus. We also found methylation of non-CpG sequences. This validated two bioinformatics methods for predicting gene methylation, the bias in observed to expected ratio of CpG dinucleotides and the density of CpG/TpG single nucleotide polymorphisms (SNP. Frequencies of genomic DNA methylation were determined for different developmental stages and castes using ms-AFLP assays. The genetic caste determination system (GCD is probably the product of an ancestral hybridization event between P. barbatus and P. rugosus. Two lineages obligately co-occur within a GCD population, and queens are derived from intra-lineage matings whereas workers are produced from inter-lineage matings. Relative DNA methylation levels of queens and workers from GCD lineages (contemporary hybrids were not significantly different until adulthood. Virgin queens had significantly higher relative levels of DNA methylation compared to workers. Worker DNA methylation did not vary among developmental stages within each lineage, but was significantly different between the currently hybridizing lineages. Finally, workers of the two genetic caste determination lineages had half as many methylated cytosines as workers from the putative parental species, which have environmental caste determination. CONCLUSIONS/SIGNIFICANCE: These results suggest that DNA methylation may be a conserved regulatory mechanism moderating division of labor in both bees and ants. Current and historic

Diverse Genetic Regulon of the Virulence-Associated Transcriptional Regulator MucR in Brucella abortus 2308

Science.gov (United States)

Caswell, Clayton C.; Elhassanny, Ahmed E. M.; Planchin, Emilie E.; Roux, Christelle M.; Weeks-Gorospe, Jenni N.; Ficht, Thomas A.; Dunman, Paul M.

2013-01-01

The Ros-type regulator MucR is one of the few transcriptional regulators that have been linked to virulence in Brucella. Here, we show that a Brucella abortus in-frame mucR deletion strain exhibits a pronounced growth defect during in vitro cultivation and, more importantly, that the mucR mutant is attenuated in cultured macrophages and in mice. The genetic basis for the attenuation of Brucella mucR mutants has not been defined previously, but in the present study the genes regulated by MucR in B. abortus have been elucidated using microarray analysis and real-time reverse transcription-PCR (RT-PCR). In B. abortus 2308, MucR regulates a wide variety of genes whose products may function in establishing and maintaining cell envelope integrity, polysaccharide biosynthesis, iron homeostasis, genome plasticity, and transcriptional regulation. Particularly notable among the MucR-regulated genes identified is arsR6 (nolR), which encodes a transcriptional regulator previously linked to virulence in Brucella melitensis 16 M. Importantly, electrophoretic mobility shift assays (EMSAs) determined that a recombinant MucR protein binds directly to the promoter regions of several genes repressed by MucR (including arsR6 [nolR]), and in Brucella, as in other alphaproteobacteria, MucR binds to its own promoter to repress expression of the gene that encodes it. Overall, these studies have uncovered the diverse genetic regulon of MucR in Brucella, and in doing so this work has begun to define the MucR-controlled genetic circuitry whose misregulation contributes to the virulence defect of Brucella mucR mutants. PMID:23319565

Risk Assessment of Defect Occurrences in Engine Piston Castings by FMEA Method

Directory of Open Access Journals (Sweden)

Piątkowski J.

2017-09-01

Full Text Available The FMEA (Failure Mode and Effects Analysis method consists in analysis of failure modes and evaluation of their effects based on determination of cause-effect relationships for formation of possible product or process defects. Identified irregularities which occur during the production process of piston castings for internal combustion engines were ordered according to their failure rates, and using Pareto-Lorenz analysis, their per cent and cumulated shares were determined. The assessments of risk of defects occurrence and their causes were carried out in ten-point scale of integers, while taking three following criteria into account: significance of effects of the defect occurrence (LPZ, defect occurrence probability (LPW and detectability of the defect found (LPO. A product of these quantities constituted the risk score index connected with a failure occurrence (a so-called “priority number,” LPR. Based on the observations of the piston casting process and on the knowledge of production supervisors, a set of corrective actions was developed and the FMEA was carried out again. It was shown that the proposed improvements reduce the risk of occurrence of process failures significantly, translating into a decrease in defects and irregularities during the production of piston castings for internal combustion engines.

The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease

Science.gov (United States)

Gan, Earn H; MacArthur, Katie; Mitchell, Anna L; Pearce, Simon H S

2012-01-01

Background Autoimmune Addison's disease (AAD) is a rare condition with a complex genetic basis. A panel of rare and functionally defective genetic variants in the sialic acid acetylesterase (SIAE) gene has recently been implicated in several common autoimmune conditions. We performed a case–control study to determine whether these rare variants are associated with a rarer condition, AAD. Method We analysed nine SIAE gene variants (W48X, M89V, C196F, C226G, R230W, T312M, Y349C, F404S and R479C) in a United Kingdom cohort of 378 AAD subjects and 387 healthy controls. All samples were genotyped using Sequenom iPlex chemistry to characterise primer extension products. Results A heterozygous rare allele at codon 312 (312*M) was found in one AAD patient (0.13%) but was not detected in the healthy controls. The commoner, functionally recessive variant at codon 89 (89*V) was found to be homozygous in two AAD patients but was only found in the heterozygous state in controls. Taking into account all nine alleles examined, 4/378 (1.06%) AAD patients and 1/387 (0.25%) healthy controls carried the defective SIAE alleles, with a calculated odds ratio of 4.13 (95% CI 0.44–97.45, two-tailed P value 0.212, NS). Conclusion We demonstrated the presence of 89*V homozygotes and the 312*M rare allele in the AAD cohort, but overall, our analysis does not support a role for rare variants in SIAE in the pathogenesis of AAD. However, the relatively small collection of AAD patients limits the power to exclude a small effect. PMID:23011869

Defects and defect generation in oxide layer of ion implanted silicon-silicon dioxide structures

CERN Document Server

Baraban, A P

2002-01-01

One studies mechanism of generation of defects in Si-SiO sub 2 structure oxide layer as a result of implantation of argon ions with 130 keV energy and 10 sup 1 sup 3 - 3.2 x 10 sup 1 sup 7 cm sup - sup 2 doses. Si-SiO sub 2 structures are produced by thermal oxidation of silicon under 950 deg C temperature. Investigations were based on electroluminescence technique and on measuring of high-frequency volt-farad characteristics. Increase of implantation dose was determined to result in spreading of luminosity centres and in its maximum shifting closer to boundary with silicon. Ion implantation was shown, as well, to result in increase of density of surface states at Si-SiO sub 2 interface. One proposed model of defect generation resulting from Ar ion implantation into Si-SiO sub 2

Deep sub-wavelength metrology for advanced defect classification

Science.gov (United States)

van der Walle, P.; Kramer, E.; van der Donck, J. C. J.; Mulckhuyse, W.; Nijsten, L.; Bernal Arango, F. A.; de Jong, A.; van Zeijl, E.; Spruit, H. E. T.; van den Berg, J. H.; Nanda, G.; van Langen-Suurling, A. K.; Alkemade, P. F. A.; Pereira, S. F.; Maas, D. J.

2017-06-01

Particle defects are important contributors to yield loss in semi-conductor manufacturing. Particles need to be detected and characterized in order to determine and eliminate their root cause. We have conceived a process flow for advanced defect classification (ADC) that distinguishes three consecutive steps; detection, review and classification. For defect detection, TNO has developed the Rapid Nano (RN3) particle scanner, which illuminates the sample from nine azimuth angles. The RN3 is capable of detecting 42 nm Latex Sphere Equivalent (LSE) particles on XXX-flat Silicon wafers. For each sample, the lower detection limit (LDL) can be verified by an analysis of the speckle signal, which originates from the surface roughness of the substrate. In detection-mode (RN3.1), the signal from all illumination angles is added. In review-mode (RN3.9), the signals from all nine arms are recorded individually and analyzed in order to retrieve additional information on the shape and size of deep sub-wavelength defects. This paper presents experimental and modelling results on the extraction of shape information from the RN3.9 multi-azimuth signal such as aspect ratio, skewness, and orientation of test defects. Both modeling and experimental work confirm that the RN3.9 signal contains detailed defect shape information. After review by RN3.9, defects are coarsely classified, yielding a purified Defect-of-Interest (DoI) list for further analysis on slower metrology tools, such as SEM, AFM or HIM, that provide more detailed review data and further classification. Purifying the DoI list via optical metrology with RN3.9 will make inspection time on slower review tools more efficient.

Cariogenic properties of Streptococcus mutans clinical isolates with sortase defects.

Science.gov (United States)

Lapirattanakul, Jinthana; Takashima, Yukiko; Tantivitayakul, Pornpen; Maudcheingka, Thaniya; Leelataweewud, Pattarawadee; Nakano, Kazuhiko; Matsumoto-Nakano, Michiyo

2017-09-01

In Streptococcus mutans, a Gram-positive pathogen of dental caries, several surface proteins are anchored by the activity of sortase enzyme. Although various reports have shown that constructed S. mutans mutants deficient of sortase as well as laboratory reference strains with a sortase gene mutation have low cariogenic potential, no known studies have investigated clinical isolates with sortase defects. Here, we examined the cariogenic properties of S. mutans clinical isolates with sortase defects as well as caries status in humans harboring such defective isolates. Sortase-defective clinical isolates were evaluated for biofilm formation, sucrose-dependent adhesion, stress-induced dextran-dependent aggregation, acid production, and acid tolerance. Additionally, caries indices of subjects possessing such defective isolates were determined. Our in vitro results indicated that biofilm with a lower quantity was formed by sortase-defective as compared to non-defective isolates. Moreover, impairments of sucrose-dependent adhesion and stress-induced dextran-dependent aggregation were found among the isolates with defects, whereas no alterations were seen in regard to acid production or tolerance. Furthermore, glucan-binding protein C, a surface protein anchored by sortase activity, was predominantly detected in culture supernatants of all sortase-defective S. mutans isolates. Although the sortase-defective isolates showed lower cariogenic potential because of a reduction in some cariogenic properties, deft/DMFT indices revealed that all subjects harboring those isolates had caries experience. Our findings suggest the impairment of cariogenic properties in S. mutans clinical isolates with sortase defects, though the detection of these defective isolates seemed not to imply low caries risk in the subjects harboring them. Copyright © 2017 Elsevier Ltd. All rights reserved.

Rapid surface defect detection based on singular value decomposition using steel strips as an example

Science.gov (United States)

Sun, Qianlai; Wang, Yin; Sun, Zhiyi

2018-05-01

For most surface defect detection methods based on image processing, image segmentation is a prerequisite for determining and locating the defect. In our previous work, a method based on singular value decomposition (SVD) was used to determine and approximately locate surface defects on steel strips without image segmentation. For the SVD-based method, the image to be inspected was projected onto its first left and right singular vectors respectively. If there were defects in the image, there would be sharp changes in the projections. Then the defects may be determined and located according sharp changes in the projections of each image to be inspected. This method was simple and practical but the SVD should be performed for each image to be inspected. Owing to the high time complexity of SVD itself, it did not have a significant advantage in terms of time consumption over image segmentation-based methods. Here, we present an improved SVD-based method. In the improved method, a defect-free image is considered as the reference image which is acquired under the same environment as the image to be inspected. The singular vectors of each image to be inspected are replaced by the singular vectors of the reference image, and SVD is performed only once for the reference image off-line before detecting of the defects, thus greatly reducing the time required. The improved method is more conducive to real-time defect detection. Experimental results confirm its validity.

Genetic determinants of statin intolerance

Directory of Open Access Journals (Sweden)

Pollex Rebecca L

2007-03-01

Full Text Available Abstract Background Statin-related skeletal muscle disorders range from benign myalgias – such as non-specific muscle aches or joint pains without elevated serum creatinine kinase (CK concentration – to true myositis with >10-fold elevation of serum CK, to rhabdomyolysis and myoglobinuria. The genetic basis of statin-related muscle disorders is largely unknown. Because mutations in the COQ2 gene are associated with severe inherited myopathy, we hypothesized that common, mild genetic variation in COQ2 would be associated with inter-individual variation in statin intolerance. We studied 133 subjects who developed myopathy on statin monotherapy and 158 matched controls who tolerated statins without incident or complaint. Results COQ2 genotypes, based on two single nucleotide polymorphisms (SNP1 and SNP2 and a 2-SNP haplotype, all showed significant associations with statin intolerance. Specifically, the odds ratios (with 95% confidence intervals for increased risk of statin intolerance among homozygotes for the rare alleles were 2.42 (0.99 to 5.89, 2.33 (1.13 to 4.81 and 2.58 (1.26 to 5.28 for SNP1 and SNP2 genotypes, and the 2-SNP haplotype, respectively. Conclusion These preliminary pharmacogenetic results, if confirmed, are consistent with the idea that statin intolerance which is manifested primarily through muscle symptoms is associated with genomic variation in COQ2 and thus perhaps with the CoQ10 pathway.

Inherited DNA repair defects in H. sapiens: their relation to uv-associated processes in xeroderma pigmentosum

International Nuclear Information System (INIS)

Robbins, J.H.; Kraemer, K.H.; Andrews, A.D.

1976-01-01

Xeroderma pigmentosum (XP) is an autosomal recessive disease in which patients develop pigmentation abnormalities and numerous malignancies on areas of skin exposed to sunlight. Some XP patients have neurological abnormalities in addition to their cutaneous pathology. Genetic defects in DNA repair have now been found in all studied XP patients. Here, we shall review and present studies relating the different inherited DNA repair defects of XP to several uv-associated processes. Peripheral blood lymphocytes and skin fibroblasts obtained from patients were cultured and the uv-induced thymidine incorporation in DNA was measured by autoradiography or by scintillation spectroscopy

Embryonic aneuploidy does not differ among genetic ancestry according to continental origin as determined by ancestry informative markers.

Science.gov (United States)

Franasiak, Jason M; Olcha, Meir; Shastri, Shefali; Molinaro, Thomas A; Congdon, Haley; Treff, Nathan R; Scott, Richard T

2016-10-01

Is embryonic aneuploidy, as determined by comprehensive chromosome screening (CCS), related to genetic ancestry, as determined by ancestry informative markers (AIMs)? In this study, when determining continental ancestry utilizing AIMs, genetic ancestry does not have an impact on embryonic aneuploidy. Aneuploidy is one of the best-characterized barriers to ART success and little information exists regarding ethnicity and whole chromosome aneuploidy in IVF. Classifying continental ancestry utilizing genetic profiles from a selected group of single nucleotide polymorphisms, termed AIMs, can determine ancestral origin with more accuracy than self-reported data. This is a retrospective cohort study of patients undergoing their first cycle of IVF with CCS at a single center from 2008 to 2014. There were 2328 patients identified whom had undergone IVF/CCS and AIM genotyping. All patients underwent IVF/ICSI and CCS after trophectoderm biopsy. Patients' serum was genotyped using 32 custom AIMs to identify continental origin. Admixture proportions were determined using Bayesian clustering algorithms. Patients were assigned to the population (European, African, East Asian or Central/South Asian) corresponding to their greatest admixture proportion. The mean number of embryos tested was 5.3 (range = 1-40) and the mode was 1. Patients' ethnic classifications revealed European (n = 1698), African (n = 103), East Asian (n = 206) or Central/South Asian (n = 321). When controlling for age and BMI, aneuploidy rate did not differ by genetic ancestry (P = 0.28). The study type (retrospective) and the ability to classify patients by continental rather than sub-continental origin as well as the predominantly European patient mix may impact generalizability. Post hoc power calculation revealed power to detect a 16.8% difference in embryonic aneuploidy between the two smallest sample size groups. These data do not support differences in embryonic aneuploidy among various genetic

Classification and printability of EUV mask defects from SEM images

Science.gov (United States)

Cho, Wonil; Price, Daniel; Morgan, Paul A.; Rost, Daniel; Satake, Masaki; Tolani, Vikram L.

2017-10-01

-to-Aerial printability) analysis of every defect. First, a defect-free or reference mask SEM is rendered from the post-OPC design, and the defective signature is detected from the defect-reference difference image. These signatures help assess the true nature of the defect as evident in e-beam imaging; for example, excess or missing absorber, line-edge roughness, contamination, etc. Next, defect and reference contours are extracted from the grayscale SEM images and fed into the simulation engine with an EUV scanner model to generate corresponding EUV defect and reference aerial images. These are then analyzed for printability and dispositioned using an Aerial Image Analyzer (AIA) application to automatically measure and determine the amount of CD errors. Thus by integrating EUV ADC and S2A applications together, every defect detection is characterized for its type and printability which is essential for not only determining which defects to repair, but also in monitoring the performance of EUV mask process tools. The accuracy of the S2A print modeling has been verified with other commercially-available simulators, and will also be verified with actual wafer print results. With EUV lithography progressing towards volume manufacturing at 5nm technology, and the likelihood of EBMI inspectors approaching the horizon, the EUV ADC-S2A system will continue serving an essential role of dispositioning defects off e-beam imaging.

Exploring genetic suppression interactions on a global scale.

Science.gov (United States)

van Leeuwen, Jolanda; Pons, Carles; Mellor, Joseph C; Yamaguchi, Takafumi N; Friesen, Helena; Koschwanez, John; Ušaj, Mojca Mattiazzi; Pechlaner, Maria; Takar, Mehmet; Ušaj, Matej; VanderSluis, Benjamin; Andrusiak, Kerry; Bansal, Pritpal; Baryshnikova, Anastasia; Boone, Claire E; Cao, Jessica; Cote, Atina; Gebbia, Marinella; Horecka, Gene; Horecka, Ira; Kuzmin, Elena; Legro, Nicole; Liang, Wendy; van Lieshout, Natascha; McNee, Margaret; San Luis, Bryan-Joseph; Shaeri, Fatemeh; Shuteriqi, Ermira; Sun, Song; Yang, Lu; Youn, Ji-Young; Yuen, Michael; Costanzo, Michael; Gingras, Anne-Claude; Aloy, Patrick; Oostenbrink, Chris; Murray, Andrew; Graham, Todd R; Myers, Chad L; Andrews, Brenda J; Roth, Frederick P; Boone, Charles

2016-11-04

Genetic suppression occurs when the phenotypic defects caused by a mutation in a particular gene are rescued by a mutation in a second gene. To explore the principles of genetic suppression, we examined both literature-curated and unbiased experimental data, involving systematic genetic mapping and whole-genome sequencing, to generate a large-scale suppression network among yeast genes. Most suppression pairs identified novel relationships among functionally related genes, providing new insights into the functional wiring diagram of the cell. In addition to suppressor mutations, we identified frequent secondary mutations,in a subset of genes, that likely cause a delay in the onset of stationary phase, which appears to promote their enrichment within a propagating population. These findings allow us to formulate and quantify general mechanisms of genetic suppression. Copyright © 2016, American Association for the Advancement of Science.

Chemical stability and defect formation in CaHfO3

KAUST Repository

Alay-E-Abbas, Syed Muhammad

2014-04-01

Defects in CaHfO3 are investigated by ab initio calculations based on density functional theory. Pristine and anion-deficient CaHfO 3 are found to be insulating, whereas cation-deficient CaHfO 3 is hole-doped. The formation energies of neutral and charged cation and anion vacancies are evaluated to determine the stability in different chemical environments. Moreover, the energies of the partial and full Schottky defect reactions are computed. We show that clustering of anion vacancies in the HfO layers is energetically favorable for sufficiently high defect concentrations and results in metallicity. © 2014 EPLA.

Chemical stability and defect formation in CaHfO3

KAUST Repository

Alay-E-Abbas, Syed Muhammad; Nazir, Safdar; Mun Wong, Kin; Shaukat, Ali; Schwingenschlö gl, Udo

2014-01-01

Defects in CaHfO3 are investigated by ab initio calculations based on density functional theory. Pristine and anion-deficient CaHfO 3 are found to be insulating, whereas cation-deficient CaHfO 3 is hole-doped. The formation energies of neutral and charged cation and anion vacancies are evaluated to determine the stability in different chemical environments. Moreover, the energies of the partial and full Schottky defect reactions are computed. We show that clustering of anion vacancies in the HfO layers is energetically favorable for sufficiently high defect concentrations and results in metallicity. © 2014 EPLA.

Limb-body wall defect: experience of a reference service of fetal medicine from Southern Brazil.

Science.gov (United States)

Gazolla, Ana C; da Cunha, André C; Telles, Jorge A B; Betat, Rosilene da S; Romano, Mayara A; Marshall, Isabel; Gobatto, Amanda M; de H Bicca, Anna M; Arcolini, Camila P; Dal Pai, Thaís K V; Vieira, Luciane R; Targa, Luciano V; Betineli, Ildo; Zen, Paulo R G; Rosa, Rafael F M

2014-10-01

Limb-body wall defect is a rare condition characterized by a combination of large and complex defects of the ventral thorax and abdominal wall with craniofacial and limb anomalies. The aim of this study was to describe the experience of our fetal medicine service, a reference from Southern Brazil, with prenatally diagnosed patients with a limb-body wall defect in a 3 years period. Only patients who fulfilled the criteria suggested by Hunter et al. (2011) were included in the study. Clinical data and results of radiological and cytogenetic evaluation were collected from their medical records. Our sample was composed of 8 patients. Many of their mothers were younger than 25 years (50%) and in their first pregnancy (62.5%). It is noteworthy that one patient was referred due to suspected anencephaly and another due to a twin pregnancy with an embryonic sac. Craniofacial defects were verified in three patients (37.5%), thoracic/abdominal abnormalities in 6 (75%) and limb defects in eight (100%). Congenital heart defects were observed in five patients (62.5%). One of them presented a previously undescribed complex heart defect. The results disclosed that complementary exams, such as MRI and echocardiography, are important to better define the observed defects. Some of them, such as congenital heart defects, may be more common than previously reported. This definition is essential for the proper management of the pregnancy and genetic counseling of the family. The birth of these children must be planned with caution and for the prognosis a long survival possibility, despite unlikely and rare, must be considered. © 2014 Wiley Periodicals, Inc.

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

Science.gov (United States)

Vetrini, Francesco; D'Alessandro, Lisa C A; Akdemir, Zeynep C; Braxton, Alicia; Azamian, Mahshid S; Eldomery, Mohammad K; Miller, Kathryn; Kois, Chelsea; Sack, Virginia; Shur, Natasha; Rijhsinghani, Asha; Chandarana, Jignesh; Ding, Yan; Holtzman, Judy; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Hanchard, Neil A; Harel, Tamar; Rosenfeld, Jill A; Belmont, John W; Lupski, James R; Yang, Yaping

2016-10-06

Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of laterality defects in humans are highly heterogeneous. Via whole-exome sequencing (WES), we identified homozygous mutations in PKD1L1 from three affected individuals in two unrelated families. PKD1L1 encodes a polycystin-1-like protein and its loss of function is known to cause laterality defects in mouse and medaka fish models. Family 1 had one fetus and one deceased child with heterotaxy and complex congenital heart malformations. WES identified a homozygous splicing mutation, c.6473+2_6473+3delTG, which disrupts the invariant splice donor site in intron 42, in both affected individuals. In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease. The p.Cys1691Ser substitution affects a highly conserved cysteine residue and is predicted by molecular modeling to disrupt a disulfide bridge essential for the proper folding of the G protein-coupled receptor proteolytic site (GPS) motif. Damaging effects associated with substitutions of this conserved cysteine residue in the GPS motif have also been reported in other genes, namely GPR56, BAI3, and PKD1 in human and lat-1 in C. elegans, further supporting the likely pathogenicity of p.Cys1691Ser in PKD1L1. The identification of bi-allelic PKD1L1 mutations recapitulates previous findings regarding phenotypic consequences of loss of function of the orthologous genes in mice and medaka fish and further expands our understanding of genetic contributions to laterality defects in humans. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

The spatial evaluation of neighborhood clusters of birth defects

Energy Technology Data Exchange (ETDEWEB)

Frisch, J.D.

1990-04-16

Spatial statistics have recently been applied in epidemiology to evaluate clusters of cancer and birth defects. Their use requires a comparison population, drawn from the population at risk for disease, that may not always be readily available. In this dissertation the plausibility of using data on all birth defects, available from birth defects registries, as a surrogate for the spatial distribution of all live births in the analysis of clusters is assessed. Three spatial statistics that have been applied in epidemiologic investigations of clusters, nearest neighbor distance, average interpoint distance, and average distance to a fixed point, were evaluated by computer simulation for their properties in a unit square, and in a zip code region. Comparison of spatial distributions of live births and birth defects was performed by drawing samples of live births and birth defects from Santa Clara County, determining the street address at birth, geocoding this address and evaluating the resultant maps using various statistical techniques. The proposed method was then demonstrated on a previously confirmed cluster of oral cleft cases. All live births for the neighborhood were geocoded, as were all birth defects. Evaluation of this cluster using the nearest neighbor and average interpoint distance statistics was performed using randomization techniques with both the live births population and the birth defect population as comparison groups. 113 refs., 36 figs., 16 tabs.

The pinning property of Bi-2212 single crystals with columnar defects

International Nuclear Information System (INIS)

Okamura, Kazunori; Kiuchi, Masaru; Otabe, Edmund Soji; Yasuda, Takashi; Matsushita, Teruo; Okayasu, Satoru

2004-01-01

It is qualitatively understood that the condensation energy density in oxide superconductors, which is one of the essential parameters for determining their pinning strength, becomes large with increasing dimensionality of the superconductor. However, the condensation energy density has not yet been evaluated quantitatively. Its value can be estimated from the elementary pinning force of a known defect. Columnar defects created by heavy ion irradiation are candidates for being such defects. That is, the size and number density of columnar defects can be given. In addition, it is known that two-dimensional vortices like those in Bi-2212 are forced into three-dimensional states by these defects in a magnetic field parallel to the defects. Thus, the condensation energy density can be estimated from the pinning property of the columnar defects even for two-dimensional superconductors. A similar analysis was performed also for three-dimensional Y-123. A discussion is given of the relationship between the condensation energy density and the anisotropy parameter estimated from measurements of anisotropic resistivity and peak field

Nonlinear effects in defect production by atomic and molecular ion implantation

International Nuclear Information System (INIS)

David, C.; Dholakia, Manan; Chandra, Sharat; Nair, K. G. M.; Panigrahi, B. K.; Amirthapandian, S.; Amarendra, G.; Varghese Anto, C.; Santhana Raman, P.; Kennedy, John

2015-01-01

This report deals with studies concerning vacancy related defects created in silicon due to implantation of 200 keV per atom aluminium and its molecular ions up to a plurality of 4. The depth profiles of vacancy defects in samples in their as implanted condition are carried out by Doppler broadening spectroscopy using low energy positron beams. In contrast to studies in the literature reporting a progressive increase in damage with plurality, implantation of aluminium atomic and molecular ions up to Al 3 , resulted in production of similar concentration of vacancy defects. However, a drastic increase in vacancy defects is observed due to Al 4 implantation. The observed behavioural trend with respect to plurality has even translated to the number of vacancies locked in vacancy clusters, as determined through gold labelling experiments. The impact of aluminium atomic and molecular ions simulated using MD showed a monotonic increase in production of vacancy defects for cluster sizes up to 4. The trend in damage production with plurality has been explained on the basis of a defect evolution scheme in which for medium defect concentrations, there is a saturation of the as-implanted damage and an increase for higher defect concentrations

Fibrous metaphyseal defects

International Nuclear Information System (INIS)

Ritschl, P.; Hajek, P.C.; Pechmann, U.

1989-01-01

Sixteen patients with fibrous metaphyseal defects were examined with both plain radiography and magnetic resonance (MR) imaging. Depending on the age of the fibrous metaphyseal defects, characteristic radiomorphologic changes were found which correlated well with MR images. Following intravenous Gadolinium-DTPA injection, fibrous metaphyseal defects invariably exhibited a hyperintense border and signal enhancement. (orig./GDG)

Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.

Science.gov (United States)

Hightower, Rylie M; Alexander, Matthew S

2018-01-01

Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused by inherited or spontaneous genetic mutations. Next-generation sequencing has greatly improved the accuracy and speed of diagnosis for different types of muscular dystrophy. Advancements in depth of coverage, convenience, and overall reduced cost have led to the identification of genetic modifiers that are responsible for phenotypic variability in affected patients. These genetic modifiers have been postulated to explain key differences in disease phenotypes, including age of loss of ambulation, steroid responsiveness, and the presence or absence of cardiac defects in patients with the same form of muscular dystrophy. This review highlights recent findings on genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies based on animal and clinical studies. These genetic modifiers hold great promise to be developed into novel therapeutic targets for the treatment of muscular dystrophies. Muscle Nerve 57: 6-15, 2018. © 2017 Wiley Periodicals, Inc.

[Genetic counseling and testing for families with Alzheimer's disease].

Science.gov (United States)

Kowalska, Anna

2004-01-01

With the identification of the genes responsible for autosomal dominant early-onset familial Alzheimer's disease (FAD genes), there is a considerable interest in the application of this genetic information in medical practice through genetic testing and counseling. Pathogenic mutations in the PSEN1 and PSEN2 genes encoding presenilin-1 and -2, and the APP gene encoding amyloid b precursor protein, account for 18-50% of familial EOAD cases with autosomal dominant pattern of inheritance. A clinical algorithm of genetic testing and counseling proposed for families with AD has been presented here. A screening for mutations in the APP, PSEN1, and PSEN2 genes is available to individuals with AD symptoms and at-risk children or siblings of patients with early-onset disease determined by a known mutation. In an early-onset family, a known mutation in an affected patient puts the siblings and children at a 50% risk of inheriting the same mutation. The goal of genetic testing is to identify at-risk individuals in order to facilitate early and effective treatments in the symptomatic person based on an individual's genotype and strategies to delay the onset of disease in the presymptomatic mutation carriers. However, there are several arguments against the use of genetic testing both presymptomatically (unpredictable psychological consequences of information about a genetic defect for family members) and as a diagnostic tool for the differential diagnosis of dementia in general practice (a risk of errors in an interpretation of mutation penetrance and its secondary effects on family members, especially for novel mutations; the possibility of coexistence of another form of dementia at the presence of a mutation). Currently, APOE genotyping for presymptomatic individuals with a family history of late-onset disease is not recommended. The APOE4 allele may only confer greater risk for disease, but its presence is not conclusive for the development of AD.

Electronic structure of point defects in semiconductors

International Nuclear Information System (INIS)

Bruneval, Fabien

2014-01-01

This 'Habilitation a diriger des Recherches' memoir presents most of my scientific activities during the past 7 years, in the field of electronic structure calculations of defects in solids. Point defects (vacancies, interstitials, impurities) in functional materials are a key parameter to determine if these materials will actually fill the role they have been assigned or not. Indeed, the presence of defects cannot be avoided when the temperature is increased or when the material is subjected to external stresses, such as irradiation in the nuclear reactors and in artificial satellites with solar radiations. However, in many cases, defects are introduced in the materials on purpose to tune the electronic transport, optical or even magnetic properties. This procedure is called the doping of semiconductors, which is the foundation technique for transistors, diodes, or photovoltaic cells. However, doping is not always straightforward and unexpected features may occur, such as doping asymmetry or Fermi level pinning, which can only be explained by complex phenomena involving different types of defects or complexes of defects. In this context, the calculations of electronic structure ab initio is an ideal tool to complement the experimental observations, to gain the understanding of phenomena at the atomic level, and even to predict the properties of defects. The power of the ab initio calculations comes from their ability to describe any system of electrons and nuclei without any specific adjustment. But although there is a strong need for numerical simulations in this field, the ab initio calculations for defects are still under development as of today. The work presented in this memoir summarizes my contributions to methodological developments on this subject. These developments have followed two main tracks. The first topic is the better understanding of the unavoidable finite size effects. Indeed, defects in semiconductors or insulators are generally present in

ILT based defect simulation of inspection images accurately predicts mask defect printability on wafer

Science.gov (United States)

Deep, Prakash; Paninjath, Sankaranarayanan; Pereira, Mark; Buck, Peter

2016-05-01

At advanced technology nodes mask complexity has been increased because of large-scale use of resolution enhancement technologies (RET) which includes Optical Proximity Correction (OPC), Inverse Lithography Technology (ILT) and Source Mask Optimization (SMO). The number of defects detected during inspection of such mask increased drastically and differentiation of critical and non-critical defects are more challenging, complex and time consuming. Because of significant defectivity of EUVL masks and non-availability of actinic inspection, it is important and also challenging to predict the criticality of defects for printability on wafer. This is one of the significant barriers for the adoption of EUVL for semiconductor manufacturing. Techniques to decide criticality of defects from images captured using non actinic inspection images is desired till actinic inspection is not available. High resolution inspection of photomask images detects many defects which are used for process and mask qualification. Repairing all defects is not practical and probably not required, however it's imperative to know which defects are severe enough to impact wafer before repair. Additionally, wafer printability check is always desired after repairing a defect. AIMSTM review is the industry standard for this, however doing AIMSTM review for all defects is expensive and very time consuming. Fast, accurate and an economical mechanism is desired which can predict defect printability on wafer accurately and quickly from images captured using high resolution inspection machine. Predicting defect printability from such images is challenging due to the fact that the high resolution images do not correlate with actual mask contours. The challenge is increased due to use of different optical condition during inspection other than actual scanner condition, and defects found in such images do not have correlation with actual impact on wafer. Our automated defect simulation tool predicts

Curvature-induced defect unbinding and dynamics in active nematic toroids

Science.gov (United States)

Ellis, Perry W.; Pearce, Daniel J. G.; Chang, Ya-Wen; Goldsztein, Guillermo; Giomi, Luca; Fernandez-Nieves, Alberto

2018-01-01

Nematic order on curved surfaces is often disrupted by the presence of topological defects, which are singular regions in which the orientational order is undefined. In the presence of force-generating active materials, these defects are able to migrate through space like swimming microorganisms. We use toroidal surfaces to show that despite their highly chaotic and non-equilibrium dynamics, pairs of defects unbind and segregate in regions of opposite Gaussian curvature. Using numerical simulations, we find that the degree of defect unbinding can be controlled by tuning the system activity, and even suppressed in strongly active systems. Furthermore, by using the defects as active microrheological tracers and quantitatively comparing our experimental and theoretical results, we are able to determine material properties of the active nematic. Our results illustrate how topology and geometry can be used to control the behaviour of active materials, and introduce a new avenue for the quantitative mechanical characterization of active fluids.

Energetics of intrinsic point defects in uranium dioxide from electronic-structure calculations

International Nuclear Information System (INIS)

Nerikar, Pankaj; Watanabe, Taku; Tulenko, James S.; Phillpot, Simon R.; Sinnott, Susan B.

2009-01-01

The stability range of intrinsic point defects in uranium dioxide is determined as a function of temperature, oxygen partial pressure, and non-stoichiometry. The computational approach integrates high accuracy ab initio electronic-structure calculations and thermodynamic analysis supported by experimental data. In particular, the density functional theory calculations are performed at the level of the spin polarized, generalized gradient approximation and includes the Hubbard U term; as a result they predict the correct anti-ferromagnetic insulating ground state of uranium oxide. The thermodynamic calculations enable the effects of system temperature and partial pressure of oxygen on defect formation energy to be determined. The predicted equilibrium properties and defect formation energies for neutral defect complexes match trends in the experimental literature quite well. In contrast, the predicted values for charged complexes are lower than the measured values. The calculations predict that the formation of oxygen interstitials becomes increasingly difficult as higher temperatures and reducing conditions are approached

Defect detection based on extreme edge of defective region histogram

Directory of Open Access Journals (Sweden)

Zouhir Wakaf

2018-01-01

Full Text Available Automatic thresholding has been used by many applications in image processing and pattern recognition systems. Specific attention was given during inspection for quality control purposes in various industries like steel processing and textile manufacturing. Automatic thresholding problem has been addressed well by the commonly used Otsu method, which provides suitable results for thresholding images based on a histogram of bimodal distribution. However, the Otsu method fails when the histogram is unimodal or close to unimodal. Defects have different shapes and sizes, ranging from very small to large. The gray-level distributions of the image histogram can vary between unimodal and multimodal. Furthermore, Otsu-revised methods, like the valley-emphasis method and the background histogram mode extents, which overcome the drawbacks of the Otsu method, require preprocessing steps and fail to use the general threshold for multimodal defects. This study proposes a new automatic thresholding algorithm based on the acquisition of the defective region histogram and the selection of its extreme edge as the threshold value to segment all defective objects in the foreground from the image background. To evaluate the proposed defect-detection method, common standard images for experimentation were used. Experimental results of the proposed method show that the proposed method outperforms the current methods in terms of defect detection.

On kinetics of paramagnetic radiation defects accumulation in beryllium ceramics

International Nuclear Information System (INIS)

Polyakov, A.I.; Ryabikin, Yu.A.; Zashkvara, O.V.; Bitenbaev, M.I.; Petykhov, Yu.V.

1999-01-01

Results of paramagnetic radiation defects concentration dependence study in beryllium ceramics from gamma-irradiation dose ( 60 Co) within interval 0-100 Mrem are cited. Obtained dose dependence has form of accumulation curve with saturation typical of for majority of solids (crystals, different polymers, organic substances and others) , in which under irradiation occur not only formation of paramagnetic radiation defects, but its destruction due to recombination and interaction with radiation fields. Analysis of accumulation curve by the method of distant asymptotics allows to determine that observed in gamma-irradiated beryllium ceramics double line of electron spin resonance is forming of two types of paramagnetic radiation defects. It was defined, that sum paramagnetic characteristics of beryllium ceramics within 1-100 Mrad gamma- irradiation dose field change insignificantly and define from first type of paramagnetic radiation defects

A comparison of neural tube defects identified by two independent routine recording systems for congenital malformations in Northern Ireland.

Science.gov (United States)

Nevin, N C; McDonald, J R; Walby, A L

1978-12-01

The efficiency of two systems for recording congenital malformations has been compared; one system, the Registrar General's Congenital Malformation Notification, is based on registering all malformed infants, and the other, the Child Health System, records all births. In Northern Ireland for three years [1974--1976], using multiple sources of ascertainment, a total of 686 infants with neural tube defects was identified among 79 783 live and stillbirths. The incidence for all neural tube defects in 8 60 per 1 000 births. The Registrar General's Congenital Malformation Notification System identified 83.6% whereas the Child Health System identified only 63.3% of all neural tube defects. Both systems together identified 86.2% of all neural tube defects. The two systems are suitable for monitoring of malformations and the addition of information from the Genetic Counselling Clinics would enhance the data for epidemiological studies.

Relation between chloroguanide bioactivation to cycloguanil and the genetically determined metabolism of mephenytoin in humans.

Science.gov (United States)

Funck-Brentano, C; Bosco, O; Jacqz-Aigrain, E; Keundjian, A; Jaillon, P

1992-05-01

It has been suggested recently that the bioactivation of chloroguanide hydrochloride (proguanil) to its active antimalarial metabolite cycloguanil cosegregates with the genetically determined polymorphism of mephenytoin hydroxylation. We determined the chloroguanide to cycloguanil ratio in urine after oral administration of a single dose of 200 mg proguanil either alone or together with 100 mg racemic mephenytoin or 40 mg dextromethorphan in a randomized crossover study performed in 24 healthy subjects. The mephenytoin hydroxylation index was also determined after administration of 100 mg racemic mephenytoin either alone or together with 200 mg proguanil. Two subjects were poor metabolizers and one subject was an intermediate metabolizer of mephenytoin. These three subjects had chloroguanide to cycloguanil ratios of more than 50. The 21 subjects with the extensive metabolizer phenotype for mephenytoin hydroxylation had chloroguanide to cycloguanil ratios of less than 10. The chloroguanide to cycloguanil ratio was not significantly altered by mephenytoin or dextromethorphan coadministration. The trend toward a correlation between chloroguanide/cycloguanil ratio and log mephenytoin hydroxylation index did not reach statistical significance. Inclusion of the dextromethorphan metabolic ratio into the model did not improve the relationship. These findings confirm that the bioactivation of chloroguanide to cycloguanil cosegregates with the genetically determined activity of the CYP2C family. However, the chloroguanide to cycloguanil ratio and the mephenytoin hydroxylation index do not similarly reflect the variable activity of CYP2C.

Identification of genetic defects in primary immunodeficiencies by whole exome sequencing

DEFF Research Database (Denmark)

Christiansen, Mette; Jensen, Jens Magnus Bernth; Veirum, Jens Erik

2014-01-01

to hypogammaglobulinaemia, and increased risk of both infections as well as cancer. We employed whole exome sequencing (WES) to identify mutations associated with primary immunodeficiency in severely affected children. We present WES data on 2 patients with severe immunodeficiency. WES was performed using TruSeq exome kit...... and severe infections including sepsis. Second, we identified compound heterozygote stopgain mutations in RAD52 and a heterozygote mutation in LRRC8A in a 7 year-old girl with T-cell deficiency, reduced T-cell mediated B-cell activity, hypogammaglobulinaemia, prolonged splenomegali and benign adenopathy. RAD......52 has not previously been linked to immunodeficiency and we are currently investigating the functional consequences. Knowledge of the mechanisms underlying immunodeficiencies is a prerequisite for understanding disease pathogenesis. WES allows the demonstration of immune defects that may result from...

Genetics of recessive cognitive disorders

OpenAIRE

Musante, Luciana; Ropers, H. Hilger

2014-01-01

Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk. For autosomal recessive ID (ARID) the recurrence risk is high and, in populations with frequent parental consanguinity, ARID is the most common form of ID. Even so, its elu...

Cost-benefit as weighed on genetic scales

International Nuclear Information System (INIS)

Grahn, D.

1976-01-01

The genetic cost that may be incurred by exposure to mutagenic agents in the coal and nuclear fuel cycles is assessed, using as a point of departure the presently estimated burden of spontaneously occurring genetic defects in human populations. Risk estimates are necessarily derived from radiation studies, but chemical mutagenic hazards can probably be evaluated relative to the known dose-response relationships of radiation exposure. Cost-benefit analyses for the coal and nuclear fuel cycles are discussed and translated into monetary terms. Coal-associated risks are almost entirely somatic while nuclear risks are somatic and genetic in equal proportions. Dollar costs per man-rem are concluded to be in the $100 range. Pollution abatement costs for the nuclear cycle lie in the range of several hundreds to many thousands of dollars per man-rem reduction. It is considered appropriate to incur such costs, because genetic risks to future generations involve primarily societal and ethical issues rather than economic considerations

The PMCA pumps in genetically determined neuronal pathologies.

Science.gov (United States)

Calì, Tito; Brini, Marisa; Carafoli, Ernesto

2018-01-10

Ca 2+ signals regulate most aspects of animal cell life. They are of particular importance to the nervous system, in which they regulate specific functions, from neuronal development to synaptic plasticity. The homeostasis of cell Ca 2+ must thus be very precisely regulated: in all cells Ca 2+ pumps transport it from the cytosol to the extracellular medium (the Plasma Membrane Ca 2+ ATPases, hereafter referred to as PMCA pumps) or to the lumen of intracellular organelles (the Sarco/Endoplasmatic Reticulum Ca 2+ ATPase and the Secretory Pathway Ca 2+ ATPase, hereafter referred to as SERCA and SPCA pumps, respectively). In neurons and other excitable cells a powerful plasma membrane Na + /Ca 2+ exchanger (NCX) also exports Ca 2+ from cells. Quantitatively, the PMCA pumps are of minor importance to the bulk regulation of neuronal Ca 2+ . However, they are important in the regulation of Ca 2+ in specific sub-plasma membrane microdomains which contain a number of enzymes that are relevant to neuronal function. The PMCA pumps (of which 4 basic isoforms are expressed in animal cells) are P-type ATPases that are characterized by a long C-terminal cytosolic tail which is the site of interaction with most of the regulatory factors of the pump, the most important being calmodulin. In resting neurons, at low intracellular Ca 2+ the C-terminal tail of the PMCA interacts with the main body of the protein keeping it in an autoinhibited state. Local Ca 2+ increase activates calmodulin that removes the C-terminal tail from the inhibitory sites. Dysregulation of the Ca 2+ signals are incompatible with healthy neuronal life. A number of genetic mutations of PMCA pumps are associated with pathological phenotypes, those of the neuron-specific PMCA 2 and PMCA 3 being the best characterized. PMCA 2 mutations are associated with deafness and PMCA 3 mutations are linked to cerebellar ataxias. Biochemical analysis of the mutated pumps overexpressed in model cells have revealed their

Neural tube defects – recent advances, unsolved questions and controversies

Science.gov (United States)

Copp, Andrew J.; Stanier, Philip; Greene, Nicholas D. E.

2014-01-01

Neural tube defects (NTDs) are severe congenital malformations affecting around 1 in every 1000 pregnancies. Here we review recent advances and currently unsolved issues in the NTD field. An innovation in clinical management has come from the demonstration that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention by folic acid has been enhanced through introduction of mandatory food fortification in some countries, although not yet in UK. Genetic predisposition comprises the majority of NTD risk, and genes that regulate folate one-carbon metabolism and planar cell polarity have been strongly implicated. The sequence of human neural tube closure events remains controversial, but study of mouse NTD models shows that anencephaly, open spina bifida and craniorachischisis result from failure of primary neurulation, while skin-covered spinal dysraphism results from defective secondary neurulation. Other ‘NTD’ malformations, such as encephalocele, are likely to be post-neurulation disorders. PMID:23790957

Synthetic Defects for Vibrothermography

Science.gov (United States)

Renshaw, Jeremy; Holland, Stephen D.; Thompson, R. Bruce; Eisenmann, David J.

2010-02-01

Synthetic defects are an important tool used for characterizing the performance of nondestructive evaluation techniques. Viscous material-filled synthetic defects were developed for use in vibrothermography (also known as sonic IR) as a tool to improve inspection accuracy and reliability. This paper describes how the heat-generation response of these VMF synthetic defects is similar to the response of real defects. It also shows how VMF defects can be applied to improve inspection accuracy for complex industrial parts and presents a study of their application in an aircraft engine stator vane.

Adults' perceptions of genetic counseling and genetic testing.

Science.gov (United States)

Houfek, Julia Fisco; Soltis-Vaughan, Brigette S; Atwood, Jan R; Reiser, Gwendolyn M; Schaefer, G Bradley

2015-02-01

This study described the perceptions of genetic counseling and testing of adults (N = 116) attending a genetic education program. Understanding perceptions of genetic counseling, including the importance of counseling topics, will contribute to patient-focused care as clinical genetic applications for common, complex disorders evolve. Participants completed a survey addressing: the importance of genetic counseling topics, benefits and negative effects of genetic testing, and sharing test results. Topics addressing practical information about genetic conditions were rated most important; topics involving conceptual genetic/genomic principles were rated least important. The most frequently identified benefit and negative effect of testing were prevention/early detection/treatment and psychological distress. Participants perceived that they were more likely to share test results with first-degree than other relatives. Findings suggest providing patients with practical information about genetic testing and genetic contributions to disease, while also determining whether their self-care abilities would be enhanced by teaching genetic/genomic principles. Copyright © 2014 Elsevier Inc. All rights reserved.

Non-Genetic Determinants of Mosquito Competence for Malaria Parasites

Science.gov (United States)

Lefèvre, Thierry; Vantaux, Amélie; Dabiré, Kounbobr R.; Mouline, Karine; Cohuet, Anna

2013-01-01

Understanding how mosquito vectors and malaria parasites interact is of fundamental interest, and it also offers novel perspectives for disease control. Both the genetic and environmental contexts are known to affect the ability of mosquitoes to support malaria development and transmission, i.e., vector competence. Although the role of environment has long been recognized, much work has focused on host and parasite genetic effects. However, the last few years have seen a surge of studies revealing a great diversity of ways in which non-genetic factors can interfere with mosquito-Plasmodium interactions. Here, we review the current evidence for such environmentally mediated effects, including ambient temperature, mosquito diet, microbial gut flora, and infection history, and we identify additional factors previously overlooked in mosquito-Plasmodium interactions. We also discuss epidemiological implications, and the evolutionary consequences for vector immunity and parasite transmission strategies. Finally, we propose directions for further research and argue that an improved knowledge of non-genetic influences on mosquito-Plasmodium interactions could aid in implementing conventional malaria control measures and contribute to the design of novel strategies. PMID:23818841

Non-genetic determinants of mosquito competence for malaria parasites.