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1

Association of heterocellular HPFH, beta(+)-thalassaemia, and delta beta(0)-thalassaemia: haematological and molecular aspects  

Microsoft Academic Search

An Italian family in which heterocellular hereditary persistence of fetal haemoglobin (HPFH) interacts with both beta(+)- and delta beta-thalassaemia is described. The index case was an 8 year old girl who was presumed to inherit both heterocellular HPFH and beta (+)-thalassaemia from her mother and delta beta-thalassaemia from her father. She was healthy and never needed blood transfusions. The possible

L Cianetti; A Care; N M Sposi; A Giampaolo; M Calandrini; M Petrini; A Massa; M Marinucci; F Mavilio; M Ceccanti

1984-01-01

2

Osmotic fragility test in heterozygotes for alpha and beta thalassaemia.  

PubMed Central

This study shows that the combination of heterozygous beta thalassaemia and deletion heterozygous (-alpha/alpha alpha) or homozygous (-alpha/-alpha) alpha+ thalassaemia may result in the production of erythrocytes which have normal mean volume and haemoglobinisation but decreased osmotic fragility. Based on this finding and previous studies, which have shown that beta thalassaemia screening by the osmotic fragility test may miss a significant proportion of beta thalassaemia heterozygotes, we conclude that beta thalassaemia screening in a population in which both alpha and beta thalassaemia are prevalent should combine the one tube osmotic fragility test with electronic measurement of red blood cell indices in the initial screening process.

Maccioni, L; Cao, A

1985-01-01

3

Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.  

PubMed

This paper describes the phenotypic manifestations of a very mild beta-thalassaemia mutation detected in several members of two families of Italian descent. The molecular defect, defined by denaturing gradient gel electrophoresis analysis and direct sequencing, consists of a C-->G substitution at position 844 of IVSII of the beta-globin gene within the consensus sequence of the IVSII acceptor splice site. Heterozygotes for this mutation show a haematological phenotype ranging in severity from silent beta-thalassaemia to that of a mild beta-thalassaemia carrier state, whereas homozygotes have the typical manifestations commonly resulting from heterozygosity for a beta-thalassaemia mutation. Compound heterozygotes for the IVSII nt844 (C-->G) mutation and a severe beta-thalassaemia mutation have the phenotype of thalassaemia intermedia. This paper indicates that the presence of borderline red blood cell indices or HbA2 values should make one suspect the presence of a very mild or silent beta-thalassaemia. PMID:7819068

Rosatelli, M C; Pischedda, A; Meloni, A; Saba, L; Pomo, A; Travi, M; Fattore, S; Cao, A

1994-11-01

4

Accuracy of serum transferrin receptor levels in the diagnosis of iron deficiency among hospital patients in a population with a high prevalence of thalassaemia trait.  

PubMed

The diagnosis of iron deficiency in hospital patients can be difficult in the presence of inflammation. A raised serum transferrin receptor (sTfR) level is useful as a marker of iron deficiency as it is unaffected by inflammation. However, diseases that cause an increase in erythropoietic activity can also result in a raised sTfR level. In South-East Asia, the prevalence of thalassaemia trait is high. As thalassaemia trait is associated with ineffective erythropoiesis and therefore an increase in the sTfR level, we studied the influence of thalassaemia trait on the diagnosis of iron deficiency in hospital patients. Among 431 patients with different combinations of iron deficiency, alpha- and beta-thalassaemia trait, we found that the sTfR level is an excellent diagnostic test for iron deficiency only in patients without thalassaemia trait. alpha-Thalassaemia trait worsened its diagnostic accuracy and beta-thalassaemia trait rendered it a non-diagnostic test. We conclude that in populations with a high prevalence of thalassaemia trait, the sTfR level is not useful in diagnosing iron deficiency unless the patient's thalassaemia status is known. PMID:18983300

Ong, K H; Tan, H L; Tam, L P; Hawkins, R C W; Kuperan, P

2008-12-01

5

Iron-endocrine pattern in patients with beta-thalassaemia.  

PubMed

Patients with beta-thalassaemia (major, minor, and in association with sickle cell gene) frequently suffer from growth retardation and delayed sexual development. This is believed to be due, at least in part, to a direct effect of iron overload on the endocrine mechanisms of puberty. The role of iron overload remains speculative in relation to the disease severity and ethnic variations. This study determined the level of testosterone, cortisol, luteinizing hormone (LH), follicle stimulating hormone (FSH), free thyroxine (T4), tri-iodothyronine (T3), growth hormone (GH), iron, ferritin, and haematological parameters in 44 beta-thalassaemia patients (21 = beta-thal. major, 23 beta-thal minor), 25 Hb S/beta zero-thalassaemia patients, and 50 normal controls with age range 2-15 years. The iron endocrine status and haematological findings were evaluated, and the results were correlated and compared with age- and sex-matched controls. In comparison with controls the beta-thalassaemia-major and the Hb S/beta zero-thalassaemia patients had a significantly higher level of plasma ferritin (P < 0.01) while the mean level of total haemoglobin was significantly lower. The level of LH, FSH, testosterone, and plasma cortisol were lower in both beta-thalassaemia-major and Hb S/beta zero-thalassaemia patients with a negative correlation with plasma ferritin level. Free T3 and T4 were raised, but the difference was not statistically significant. The data demonstrate the occurrence of impaired endocrine function in the beta-thalassaemia and Hb S/beta zero-thalassaemia patients. PMID:7932935

el-Hazmi, M A; Warsy, A S; al-Fawaz, I

1994-08-01

6

Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.  

PubMed Central

In the course of a prenatal diagnosis for beta thalassaemia by linkage analysis of restriction fragment length polymorphisms, a homozygous beta thalassaemia fetus was misdiagnosed as beta thalassaemia trait. Extensive studies of the polymorphic sites within the beta globin gene cluster in all the members of the family resulted in the conclusion that the paternal chromosome 11 of the newborn was different from that expected. Paternity was confirmed by HLA typing and blood group studies. The analysis of another polymorphic locus on chromosome 11 within the family was in agreement with the possibility of a crossing over between the two paternal chromosomes in a region 5' to the beta gene, previously indicated to contain a 'hot spot' area for recombination. This report underlines the risk of performing prenatal diagnosis using restriction polymorphisms 5' to the beta gene.

Camaschella, C; Serra, A; Saglio, G; Bertero, M T; Mazza, U; Terzoli, S; Brambati, B; Cremonesi, L; Travi, M; Ferrari, M

1988-01-01

7

Hb E/beta-thalassaemia: a common & clinically diverse disorder  

PubMed Central

Haemoglobin E-beta thalassaemia (Hb E/?-thalassaemia) is the genotype responsible for approximately one-half of all severe beta-thalassaemia worldwide. The disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring transfusions from infancy. The phenotypic variability of Hb E/?-thalassaemia and the paucity of long-term clinical data, present challenges in providing definitive recommendations for the optimal management of patients. Genetic factors influencing the severity of this disorder include the type of beta-thalassaemia mutation, the co-inheritance of alpha-thalassaemia, and polymorphisms associated with increased production of foetal haemoglobin. Other factors, including a variable increase in serum erythropoietin in response to anaemia, previous or ongoing infection with malaria, previous splenectomy and other environmental influences, may be involved. The remarkable variation, and the instability, of the clinical phenotype of Hb E beta-thalassaemia suggests that careful tailoring of treatment is required for each patient, and that therapeutic approaches should be re-assessed over-time.

Olivieri, Nancy F.; Pakbaz, Zahra; Vichinsky, Elliott

2011-01-01

8

The molecular basis of beta thalassaemia in Bulgaria.  

PubMed Central

Bulgaria is in a geographical area where beta thalassaemia is relatively common. The frequency of carriers is 2 to 3% of the population. Data on the molecular characteristics of the disorder were obtained from the study of 33 homozygous patients and 57 beta thalassaemia carriers. As in other Mediterranean ethnic groups, haplotype I and the splicing mutation in IVS-1 nt 110 are the most common. Haplotype V is second in frequency and is associated with three different mutations. The second most common mutation, beta null 39, is found in association with haplotype II in 80% of cases. A rare haplotype, possibly resulting from a crossover between a haplotype II and a haplotype V chromosome, was found in two thalassaemia carriers in association with frameshift 6. Altogether four mutations (IVS-1 nt 110, beta null 39, frameshift 6, and IVS-1 nt 6) account for 67% of the thalassaemia chromosomes. Their detection would permit direct fetal DNA analysis in 84% of the families studied (45% fully informative). RFLP analysis (haplotype plus AvaII psi beta) is 100% informative in 79% of the high risk families.

Kalaydjieva, L; Eigel, A; Horst, J

1989-01-01

9

Iron Overload in Beta Thalassaemia Major and Intermedia Patients  

PubMed Central

ABSTRACT Background: In beta thalassaemia major multiple blood transfusions, ineffective erythropoiesis and increased gastrointestinal iron absorption lead to iron overload in the body. Iron overload impairs the immune system, placing patients at greater risk of infection and illness. Iron overload can be determined by serum ferritin measurement. Objective: The aim of the present study is to assess the serum ferritin levels in multi-transfused Thalassaemia major and Thalassaemia intermedia patients. The study was also done to estimate the present situation of awareness of iron overload in them. Methods: Seventy two blood samples from clinically diagnosed thalassaemia major and intermedia patients were collected from different tertiary care hospitals in Bhopal, India for their serum ferritin estimation. Serum ferritin measurement was performed using indirect enzyme linked immune sorbent based serum ferritin assay kit. Data were analyzed to determine association between variables. The association between age, sex, and serum ferritin level were established. Results: 87.4% of the beta thalassaemia major patients showed very high ferritin levels. The mean serum ferritin level was found to be 2767.52 ng/ml. 44.4% patients had serum ferritin between 1000 to 2500 ng/ml, while 43.05% patients had values above 2500 ng/ml. These levels reflect inadequate chelation and vulnerability to develop iron overload related complications. Conclusion: There is an urgent need to rationalize the chelation therapy and to create awareness about the consequences of iron overload in the patients. The study showed high levels of serum ferritin beta thalassaemia major patients which give an overall bleak view.

MISHRA, Amit Kumar; TIWARI, Archana

2013-01-01

10

Transfusion independence and HMGA2 activation after gene therapy of human beta-thalassaemia  

Microsoft Academic Search

The beta-haemoglobinopathies are the most prevalent inherited disorders worldwide. Gene therapy of beta-thalassaemia is particularly challenging given the requirement for massive haemoglobin production in a lineage-specific manner and the lack of selective advantage for corrected haematopoietic stem cells. Compound betaE\\/beta0-thalassaemia is the most common form of severe thalassaemia in southeast Asian countries and their diasporas. The betaE-globin allele bears a

Marina Cavazzana-Calvo; Emmanuel Payen; Olivier Negre; Gary Wang; Kathleen Hehir; Floriane Fusil; Julian Down; Maria Denaro; Troy Brady; Karen Westerman; Resy Cavallesco; Beatrix Gillet-Legrand; Laure Caccavelli; Riccardo Sgarra; Leila Maouche-Chrétien; Françoise Bernaudin; Robert Girot; Ronald Dorazio; Geert-Jan Mulder; Axel Polack; Arthur Bank; Jean Soulier; Jérôme Larghero; Nabil Kabbara; Bruno Dalle; Bernard Gourmel; Gérard Socie; Stany Chrétien; Nathalie Cartier; Patrick Aubourg; Alain Fischer; Kenneth Cornetta; Frédéric Galacteros; Yves Beuzard; Eliane Gluckman; Frederick Bushman; Salima Hacein-Bey-Abina; Philippe Leboulch

2010-01-01

11

beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis.  

PubMed Central

Six beta(+)-thalassaemic patients from the Po river delta region have been studied. Using synthetic oligonucleotides as specific hybridisation probes, the beta(+) IVS I mutation (G----A at position 108) was demonstrated. This lesion and the enzyme polymorphism pattern in the subjects examined are the same as have been described for other Mediterranean beta(+)-thalassaemias. Antenatal diagnosis through DNA analysis of beta(+)-thalassaemia is therefore possible. The production of beta globin in a beta(+), homozygote and in a beta (+), beta(0) 39 (nonsense mutation at codon 39) double heterozygote is approximately 20% and 10% respectively of total non-alpha globin synthesis. Despite some overlapping of the results, similar beta globin synthesis levels have been obtained in 43 beta(+)-thalassaemia patients. This suggests that in the Po river delta region the most common thalassaemic genes are beta(0) 39 and beta(+) IVS I. Images

Del Senno, L; Pirastu, M; Barbieri, R; Bernardi, F; Buzzoni, D; Marchetti, G; Perrotta, C; Vullo, C; Kan, Y W; Conconi, F

1985-01-01

12

Thalassaemia-like carriers not linked to the beta-globin gene cluster.  

PubMed

This study describes the largest series reported to date, of individuals belonging to unrelated families carrying a beta-thalassaemia-like phenotype in whom the beta-globin gene was found to be structurally intact by sequence analysis. This genetic determinant appears haematologically heterogeneous, displaying either a silent beta-thalassaemia-like phenotype or a typical beta-thalassaemia carrier-like phenotype in different families. Compound heterozygosity for both beta-thalassaemia-like determinant and typical beta-thalassaemia allele resulted either in thalassaemia intermedia or thalassaemia major. By linkage analysis both the silent and the typical beta-like determinants were found not to be linked to the beta-globin cluster. Sequence analysis of the hypersensitive site cores of locus control region and of the genes coding for the transcription factors erythroid Kruppel-like factor and nuclear factor (erythroid-derived 2) were normal. beta-globin mRNA levels determined by real-time polymerase chain reaction were reduced in both types of beta-like carriers. These results indicate the existence of causative genetic determinants not yet molecularly defined, but most likely, resulting from either the reduction or loss of function of a gene coding for unknown transcriptional regulator(s) of the beta-globin gene. The knowledge of these rare beta-thalassaemia-like determinants have implications for clinical and, especially, prenatal diagnosis of beta-thalassaemia. PMID:16445840

Faà, Valeria; Meloni, Alessandra; Moi, Loredana; Ibba, Giuseppe; Travi, Maurizio; Vitucci, Antonio; Cao, Antonio; Rosatelli, Maria Cristina

2006-03-01

13

The amplification refractory mutation system (ARMS): a rapid and direct prenatal diagnostic technique for beta-thalassaemia in Singapore.  

PubMed

beta-Thalassaemia major patients have chronic anaemia and since 3-4 per cent of Singaporeans carry the beta-gene, prenatal diagnosis is essential. We evaluated the amplification refractory mutation system (ARMS) technique as a routine test for prenatal diagnosis of beta-major. Six mutations along the beta-gene were studied--41-42 (-TCTT), IVSII #654 (C-T), 17 beta (A-T), -28 TATA (A-G), IVSI #5 (G-C), and IVSI #1 (G-T). Our results indicate that prenatal diagnosis using these mutations can be offered to 90 per cent (35/39) of our Chinese couples and 54.6 per cent (12/22) of our Malay couples at risk. Confirmation of ARMS results was carried out using allele-specific oligonucleotide hybridization. Prenatal diagnosis using ARMS was successfully carried out in nine cases which included a set of triplets and twins. The triplets were diagnosed with the beta-trait carrying the 41-42 mutation. The couple with twins possessed the #654 mutation and one twin was diagnosed with the beta-trait and the other with #654 homozygosity. Genomic sequencing of the undefined mutations in the Chinese couples revealed rarer mutations at -29 and an ATG-AGG base substitution at the initiation codon for translation. In the Malay couples, genomic sequencing detected mutations at codon 15 (TGG-TAG) and codon 26 (GAG-AAG). We conclude that ARMS with its direct detection of amplified products by gel electrophoresis provides an accurate, rapid, and simpler method for our beta-thalassaemia prenatal diagnosis programme in Singapore. PMID:7877957

Tan, J A; Tay, J S; Lin, L I; Kham, S K; Chia, J N; Chin, T M; Aziz, N B; Wong, H B

1994-11-01

14

Neutrophil chemotaxis in sickle cell anaemia, sickle cell beta zero thalassaemia, and after splenectomy.  

PubMed Central

Neutrophil chemotaxis was evaluated in 28 patients with sickle cell anaemia, 10 patient with sickle cell beta zero thalassaemia, 25 patients who had undergone splenectomy, and 38 controls. The mean distance migrated by patients' neutrophils was not significantly different from that of neutrophils from controls. Although several immunological variables have been reported to be changed after loss of splenic function, we were unable to show a defect in neutrophil chemotaxis that could account for the increased susceptibility to infection.

Donadi, E A; Falcao, R P

1987-01-01

15

A Java-based Electronic Healthcare Record Software for Beta-thalassaemia  

PubMed Central

Background Beta-thalassaemia is a hereditary disease, the prevalence of which is high in persons of Mediterranean, African, and Southeast Asian ancestry. In Greece it constitutes an important public health problem. Beta-thalassaemia necessitates continuous and complicated health care procedures such as daily chelation; biweekly transfusions; and periodic cardiology, endocrinology, and hepatology evaluations. Typically, different care items are offered in different, often-distant, health care units, which leads to increased patient mobility. This is especially true in rural areas. Medical records of patients suffering from beta-thalassaemia are inevitably complex and grow in size very fast. They are currently paper-based, scattered over all units involved in the care process. This hinders communication of information between health care professionals and makes processing of the medical records difficult, thus impeding medical research. Objective Our objective is to provide an electronic means for recording, communicating, and processing all data produced in the context of the care process of patients suffering from beta-thalassaemia. Methods We have developed - and we present in this paper - Java-based Electronic Healthcare Record (EHCR) software, called JAnaemia. JAnaemia is a general-purpose EHCR application, which can be customized for use in all medical specialties. Customization for beta-thalassaemia has been performed in collaboration with 4 Greek hospitals. To be capable of coping with patient record diversity, JAnaemia has been based on the EHCR architecture proposed in the ENV 13606:1999 standard, published by the CEN/TC251 committee. Compliance with the CEN architecture also ensures that several additional requirements are fulfilled in relation to clinical comprehensiveness; to record sharing and communication; and to ethical, medico-legal, and computational issues. Special care has been taken to provide a user-friendly, form-based interface for data entry and processing. Results The experience gained through the use of JAnaemia in 4 Greek hospitals reveals a significant contribution towards (1) improvement of the quality of the data being recorded, since data entry is guided by appropriate forms, (2) easier cooperation between physicians, who share a common information repository, and (3) increased processing capabilities, which facilitate medical research. Conclusions JAnaemia appears to be a useful tool, which can improve the quality of care offered to beta-thalassaemic patients in Greece.

Lambrinoudakis, C; Andriopoulos, P; Farmakis, D; Aessopos, A

2001-01-01

16

Indicators of Renal Glomerular and Tubular Functions in Patients with Beta-Thalassaemia Major  

PubMed Central

Objectives: There are limited data concerning the assessment of renal function in beta-thalassaemia major, with no study of such involvement in Omani patients. The objective of this study was to establish the pattern of renal glomerular and tubular function using traditional and specific laboratory tests in patients with beta-thalassaemia major. Methods: This cross-sectional study, from January–July 2008, included 30 patients of the Thalassaemia Clinic at the Royal Hospital, Oman, with transfusion-dependent homozygous beta-thalassaemia major. They included 15 males and 15 females, aged 16–32 years with mean ± standard deviation of 21.23 ± 3.42 years. The medical records were reviewed and renal function states assessed as follows: serum creatinine, estimated glomerular filtration rate (eGFR); urea; phosphate, fractional excretion of filtered sodium (FENa); urine albumin: creatinine index; urine ß2-microglobulin:creatinine index; tubular reabsorption of phosphate (TRP), and tubular maximum phosphate reabsorption (TmP)/GFR. Results: All patients had eGFR >90 ml/min/1.73m2; serum creatinine <90 ?mol/L; serum urea <6.0 mmol/L, and urine albumin:creatinine <2.5 mg/mmol. Only 2 (6.7%) patients had FENa >1% and 3 (10.0%) patients had urine ß2-microglobulin: creatinine >22 ?g/mmol. All patients had TRP >0.85, of whom seven (23.3%) patients had values within the range of 0.85–0.95 and 23 (76.7%) had values >0.95. Also, all patients had TmP/GFR >1.0 mmol/L, of whom only one (3.3%) patient had TmP/GFR of 1.0–1.5, and 29 (96.7%) patients had TmP/GFR >1.5 mmol/L. Finally, 24 (80%) patients had serum phosphate >1.4 mmol/L. Linear regression revealed a highly significant correlation between serum phosphate and TmP/GFR (r = 0.904, P < 0.001). Conclusion: Renal function, glomerular and tubular, appears to be well preserved in beta-thalassaemia major. Almost all renal function indicators were within the recommended ranges. Raised TmP/GFR and TRP were noted in the majority of patients, reflecting an up-trend in serum phosphate and therefore increasing renal phosphate reabsorption.

Mula-Abed, Waad-Allah S; Al-Hashmi, Huda S; Al-Muslahi, Muhanna N

2011-01-01

17

The molecular basis for the thalassaemias in Sri Lanka.  

PubMed

The beta-globin gene mutations and the alpha-globin genes of 620 patients with the phenotype of severe to moderate thalassaemia from seven centres in Sri Lanka were analysed. Twenty-four beta-globin gene mutations were identified, three accounting for 84.5% of the 1240 alleles studied: IVSI-5 (G-->C) 56.2%; IVSI-1 (G-->A) 15.2%; and haemoglobin E (codon (CD)26 GAG-->GAA) 13.1%. Three new mutations were found; a 13-bp deletion removing the last nucleotide in CD6 to CD10 inclusively, IVSI-129 (A-->C) in the consensus splice site, and a frame shift, CD55 (-A). The allele frequency of alpha+ thalassaemia was 6.5% and 1.1% for -alpha3.7 and -alpha4.2 deletions respectively. Non-deletion alpha-thalassaemia was not observed. Triplicate or quadruplicate alpha-globin genes were unusually common. In 1.5% of cases it was impossible to identify beta-thalassaemia alleles, but in Kurunegala detailed family studies led to an explanation for the severe thalassaemia phenotype in every case, including a previously unreported instance of homozygosity for a quadruplicated alpha-globin gene together with beta-thalassaemia trait. These findings have implications for the control of thalassaemia in high-frequency populations with complex ethnic histories. PMID:12752111

Fisher, Christopher A; Premawardhena, Anuja; de Silva, Shanthimala; Perera, Giathra; Rajapaksa, Shabna; Olivieri, Nancy A; Old, John M; Weatherall, David J

2003-05-01

18

Effective chelation of iron in beta thalassaemia with the oral chelator 1,2-dimethyl-3-hydroxypyrid-4-one  

Microsoft Academic Search

The main iron chelator used for transfusional iron overload is desferrioxamine, which is expensive, has toxic side effects, and has to be given subcutaneously. An orally active iron chelator is therefore required. The effects of oral 1,2-dimethyl-3-hydroxypyrid-4-one on urinary iron excretion were studied in eight patients who had received multiple transfusions: four had myelodysplasia and four beta thalassaemia major. Different

G J Kontoghiorghes; M A Aldouri; A V Hoffbrand; J Barr; B Wonke; T Kourouclaris; L Sheppard

1987-01-01

19

Complete recovery from paraparesis in spinal cord compression due to extramedullary haemopoiesis in beta-thalassaemia by emergency radiation therapy.  

PubMed

Extramedullary haemopoiesis (EMH) is a complication commonly associated with beta-thalassaemia intermedia; it is frequently asymptomatic but can sometimes lead to symptomatic tumour-like masses. No guidelines or common consensus are available in literature regarding the different treatment strategies and only single cases have been reported. We describe a case of spinal cord compression due to intrathoracic EMH masses treated with combined radiotherapy and hydroxyurea. PMID:24754690

Ruo Redda, M G; Allis, S; Reali, A; Bartoncini, S; Roggero, S; Anglesio, S M; Piga, A

2014-04-01

20

Carrier screening for Beta-thalassaemia: a review of international practice  

PubMed Central

?-thalassaemia is one of the most common single-gene inherited conditions in the world, and thalassaemia carrier screening is the most widely performed genetic screening test, occurring in many different countries. ?-thalassaemia carrier screening programmes provide a unique opportunity to compare the delivery of carrier screening programmes carried out in different cultural, religious and social contexts. This review compares the key characteristics of ?-thalassaemia carrier screening programmes implemented in countries across the world so that the differences and similarities between the programmes can be assessed. The manner in which thalassaemia carrier screening programmes are structured among different populations varies greatly in several aspects, including whether the programmes are mandatory or voluntary, the education and counselling provided and whether screening is offered pre-pregnancy or antenatally. National and international guidelines make recommendations on the most appropriate ways in which genetic carrier screening programmes should be conducted; however, these recommendations are not followed in many programmes. We discuss the implications for the ethical and acceptable implementation of population carrier screening and identify a paucity of research into the outcomes of thalassaemia screening programmes, despite the fact that thalassaemia screening is so commonly conducted.

Cousens, Nicole E; Gaff, Clara L; Metcalfe, Sylvia A; Delatycki, Martin B

2010-01-01

21

Dynamic Dyssynchrony and Impaired Contractile Reserve of the Left Ventricle in Beta-Thalassaemia Major: An Exercise Echocardiographic Study  

PubMed Central

Background Performance of the left ventricle during exercise stress in thalassaemia patients is uncertain. We aimed to explore the phenomenon of dynamic dyssynchrony and assess contractile reserve in patients with beta-thalassaemia major and determine their relationships with myocardial iron load. Methods and Results Thirty-two thalassaemia patients (16 males), aged 26.8±6.9 years, without heart failure and 17 healthy controls were studied. Their left ventricular (LV) volumes, ejection fraction, systolic dyssynchrony index (SDI), and myocardial acceleration during isovolumic LV contraction (IVA) were determined at rest and during submaximal bicycle exercise testing using 3-dimensional and tissue Doppler echocardiography. Myocardial iron load as assessed by T2* cardiac magnetic resonance in patients were further related to indices of LV dyssynchrony and contractile reserve. At rest, patients had significantly greater LV SDI (p<0.001) but similar IVA (p?=?0.22) compared with controls. With exercise stress, the prevalence of mechanical dyssynchrony (SDI>4.6%, control+2SD) increased from baseline 25% to 84% in patients. ? SDIexercise-baseline correlated with exercise-baseline differences in LV ejection fraction (p<0.001) and stroke volume (p?=?0.006). Compared with controls, patients had significantly less exercise-induced increase in LV ejection fraction, cardiac index, and IVA (interaction, all p<0.05) and had impaired contractile reserve as reflected by the gentler IVA-heart rate slope (p?=?0.018). Cardiac T2* in patients correlated with baseline LV SDI (r?=??0.44, p?=?0.011) and IVA-heart rate slope (r?=?0.36, p?=?0.044). Conclusions Resting LV dyssynchrony is associated with myocardial iron load. Exercise stress further unveils LV dynamic dyssynchrony and impaired contractile reserve in patients with beta-thalassaemia major.

Cheung, Yiu-fai; Yu, Wei; Li, Shu-na; Lam, Wendy W. M.; Ho, Yuen-chi; Wong, Sophia J.; Chan, Godfrey C. F.; Ha, Shau-yin

2012-01-01

22

An evaluation of PGD in clinical genetic services through 3 years application for prevention of beta-thalassaemia major and sickle cell thalassaemia  

Microsoft Academic Search

PGD represents an alternative within prenatal diagnosis services, which avoids terminating affected on-going pregnancies. In Greece, prevention programmes for haemoglobinopathies, including the option of prenatal diagnosis, are well established. Following optimization of a single-cell genotyping strategy (designed to be applicable for the majority of b-thalassaemia major or sickle thalassaemia genotype interactions) along with close collaboration with an IVF unit, we

Joanne Traeger-Synodinos; Christina Vrettou; Giles Palmer; Maria Tzetis; Minas Mastrominas; Stephen Davies; Emmanuel Kanavakis

2003-01-01

23

Left ventricular torsional mechanics and myocardial iron load in beta-thalassaemia major: a potential role of titin degradation  

PubMed Central

Background Iron may damage sarcomeric proteins through oxidative stress. We explored the left ventricular (LV) torsional mechanics in patients with beta-thalassaemia major and its relationship to myocardial iron load. Using HL-1 cell and B6D2F1 mouse models, we further determined the impact of iron load on proteolysis of the giant sarcomeric protein titin. Methods and results In 44 thalassaemia patients aged 25?±?7 years and 38 healthy subjects, LV torsion and twisting velocities were determined at rest using speckle tracking echocardiography. Changes in LV torsional parameters during submaximal exercise testing were further assessed in 32 patients and 17 controls. Compared with controls, patients had significantly reduced LV apical rotation, torsion, systolic twisting velocity, and diastolic untwisting velocity. T2* cardiac magnetic resonance findings correlated with resting diastolic untwisting velocity. The increments from baseline and resultant LV torsion and systolic and diastolic untwisting velocities during exercise were significantly lower in patients than controls. Significant correlations existed between LV systolic torsion and diastolic untwisting velocities in patients and controls, both at rest and during exercise. In HL-1 cells and ventricular myocardium of B6D2F1 mice overloaded with iron, the titin-stained pattern of sarcomeric structure became disrupted. Gel electrophoresis of iron-overloaded mouse myocardial tissue further showed significant decrease in the amount of titin isoforms and increase in titin degradation products. Conclusions Resting and dynamic LV torsional mechanics is impaired in patients with beta-thalassaemia major. Cell and animal models suggest a potential role of titin degradation in iron overload-induced alteration of LV torsional mechanics.

2014-01-01

24

Raised IgE levels in beta-thalassaemia: correlation with splenectomy and hepatitis B virus infection.  

PubMed Central

IgE values obtained in 117 beta-thalassaemia patients were significantly higher than in age matched normal subjects. In 31 patients (26.5%) IgE levels were above 2 s.d. of normal values for age, but the frequency of IgE with reaginic activity was lower in patients (5.1%) than in controls (11.9%). The highest values were observed in splenectomized patients who were also positive for one or more serological markers of hepatitis B virus infection. The increase of IgE levels was directly correlated with the number of years after splenectomy, and patients with biopsy proven chronic liver disease had higher IgE levels than those without evidence of liver damage. On the other hand, IgE levels were not correlated with the number of transfusions, age, IgG, IgA, IgM levels or T cell subsets and mitogen responsiveness. These results show that beta-thalassaemia patients develop elevated IgE levels to which splenectomy and hepatitis B virus infection contribute in a synergistic manner.

Vierucci, A; de Martino, M; Rossi, M E; Vullo, C; Borgatti, L; London, W T; Blumberg, B S

1984-01-01

25

Thalassaemia Intermedia: an Update  

PubMed Central

Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with thalassaemia intermedia (TI) has substantially increased over the past decade. TI encompasses a wide clinical spectrum of beta-thalassaemia phenotypes. Some TI patients are asymptomatic until adult life, whereas others are symptomatic from as young as 2 years of age. A number of clinical complications commonly associated with TI are rarely seen in thalassaemia major, including extramedullary hematopoiesis, leg ulcers, gallstones, thrombosis and pulmonary hypertension. There are a number of options currently available for managing patients with TI, including transfusion therapy, iron chelation therapy, modulation of foetal haemoglobin production and haematopoietic stem cell transplantation. However, at present, there are no clear guidelines for an orchestrated optimal treatment plan.

Taher, Ali T.; Musallam, Khaled M.; Cappellini, Maria D.

2009-01-01

26

Alpha and beta cell evaluation in patients with thalassaemia intermedia and iron overload.  

PubMed Central

Insulin and glucagon secretion were studied during an oral glucose tolerance test and arginine infusion in 11 patients with thalassaemia intermedia, who showed laboratory evidence of iron overload. Mean blood glucose concentrations in patients with thalassaemia intermedia were significantly higher than normal and 3 of 11 patients had impaired glucose tolerance. The principal abnormality appears to be a deficiency in insulin and glucagon from the pancreas in response to oral glucose tolerance and arginine stimulation tests. Several factors, such as iron overload, chronic hypoxia, zinc deficiency and increased catecholamine production secondary to anaemia, might play a part in the pathogenesis of these abnormalities. Each of these factors affect individual cases to a varied degree. Our data emphasize the mildness of carbohydrate defect as compared to the degree of insulinopenia and indicate the necessity for prescribing measures which prevent excessive iron deposition and improve iron excretion in thalassaemic patients with iron overload.

De Sanctis, V.; Gamberini, M. R.; Borgatti, L.; Atti, G.; Vullo, C.; Bagni, B.

1985-01-01

27

Quality of life of Iranian beta-thalassaemia major patients living on the southern coast of the Caspian Sea.  

PubMed

In the present study, the aim was to explore the quality of life of thalassaemia major (TM) patients according to age, sex, school performance, severity and complications of the disease. A cross-sectional descriptive study was conducted. Quality of life was evaluated by 4 questionnaires; demographic characteristics, the short form 36 health survey (SF-36), Persian version of symptoms checklist-90-revised (SCL-90-R) and life satisfaction index (LSI). 687 (41.08%) of the eligible patients with TM completed the questionnaires. With the SF-36 questionnaire, 329 (47.9%) participants had an excellent level of physical functioning. With the SCL-90-R questionnaire, 446 (64.9%) participants had a global severity index of > 0.7, considered psychiatric patients, 141 (20.5%) patients had GSI between 0.4 and 0.7, considered suspected psychiatric patients and 100 (14.6%) participants had GSI of < 0.4, considered non-psychiatric patients. The mean score of LSI questionnaire was 20.50 (SD 5.95), range 2-37. Beta-TM patients are at risk of psychiatric symptoms and need appropriate psychiatric counselling. PMID:22764445

Khani, H; Majdi, M R; Marzabadi, E Azad; Montazeri, A; Ghorbani, A; Ramezani, M

2012-05-01

28

High Incidence of Cardiomyopathy in Beta-Thalassaemia Patients Receiving Regular Transfusion and Iron Chelation: Reversal by Intensified Chelation  

Microsoft Academic Search

Cardiac scintigraphy has been performed in 60 ?-thalassaemia major patients aged 8-35 years who received regular blood transfusions and subcutaneous desferrioxamine (DFX) chelation. Fifty-seven showed no clinical, radiological or electrocardiographic evidence of heart disease and 3 had clinically apparent cardiac failure. Twenty-two patients (37%) showed severe cardiac functional impairment defined by a resting left ventricular ejection fraction (LVEF) < 45%

M. A. Aldouri; B. Wonke; A. V. Hoffbrand; D. M. Flynn; S. E. Ward; J. E. Agnew; A. J. W. Hilson

1990-01-01

29

Taxonomic, phylogenetic, and trait Beta diversity in South american hummingbirds.  

PubMed

Abstract Comparison of the taxonomic, phylogenetic, and trait dimensions of beta diversity may uncover the mechanisms that generate and maintain biodiversity, such as geographic isolation, environmental filtering, and convergent adaptation. We developed an approach to predict the relationship between environmental and geographic distance and the dimensions of beta diversity. We tested these predictions using hummingbird assemblages in the northern Andes. We expected taxonomic beta diversity to result from recent geographic barriers limiting dispersal, and we found that cost distance, which includes barriers, was a better predictor than Euclidean distance. We expected phylogenetic beta diversity to result from historical connectivity and found that differences in elevation were the best predictors of phylogenetic beta diversity. We expected high trait beta diversity to result from local adaptation to differing environments and found that differences in elevation were correlated with trait beta diversity. When combining beta diversity dimensions, we observe that high beta diversity in all dimensions results from adaption to different environments between isolated assemblages. Comparisons with high taxonomic, low phylogenetic, and low trait beta diversity occurred among lowland assemblages separated by the Andes, suggesting that geographic barriers have recently isolated lineages in similar environments. We provide insight into mechanisms governing hummingbird biodiversity patterns and provide a framework that is broadly applicable to other taxonomic groups. PMID:25058281

Weinstein, Ben G; Tinoco, Boris; Parra, Juan Luis; Brown, Leone M; McGuire, Jimmy A; Stiles, F Gary; Graham, Catherine H

2014-08-01

30

Extramedullary haematopoiesis presented as intrathoracic tumour in a patient with alpha-thalassaemia.  

PubMed

The authors report a case of extramedullary haematopoiesis (EMH) presenting as an intrathoracic tumour in a patient with alpha-thalassaemia. CT scan and MRI of the chest were obtained and followed by tumour excision. Compared to beta-thalassaemia, only two cases of EMH in patients with alpha-thalassaemia have been described in the literature. A possible reason for this disparity is discussed. PMID:23634834

Bobylev, Dmitry; Zhang, Ruoyu; Haverich, Axel; Krueger, Marcus

2013-01-01

31

A two-layered classifier based on the radial basis function for the screening of thalassaemia.  

PubMed

The thalassaemias are blood disorders with hereditary transmission. Their distribution is global, with particular incidence in areas affected by malaria. Their diagnosis is mainly based on haematologic and genetic analyses. The aim of this study was to differentiate between persons with the thalassaemia trait and normal subjects by inspecting characteristics of haemochromocytometric data. The paper proposes an original method that is useful in screening activity for thalassaemia classification. A complete working system with a friendly graphical user interface is presented. A unique feature of the presented work is the adoption of a two-layered classification system based on Radial basis function, which improves the performance of the system. PMID:24209918

Masala, G L; Golosio, B; Cutzu, R; Pola, R

2013-11-01

32

Stem cell transplantation for thalassaemia.  

PubMed

Although improvements in conventional treatment have enhanced the prognosis of thalassaemia, stem cell transplantation remains the only cure. Over the last 2 decades, progress in preventive strategies, effective control of transplant related complications and development of new preparative regimens, have considerably improved the results of transplants from HLA-identical siblings. Currently class 1, class 2 and class 3 patients receiving bone marrow transplantation (BMT) from an HLA-identical related donor have 87, 85 and 80% of probability of thalassaemia-free survival. The results of transplant in adult patients treated with current protocols are less successful. This study reports experience with BMT for thalassaemia. PMID:15705305

Gaziev, Javid; Lucarelli, Guido

2005-01-01

33

Endocrine complications in patients with Thalassaemia Major.  

PubMed

Patients with multi-transfused thalassaemia major may develop severe endocrine complications due to iron overload. The anterior pituitary is particularly sensitive to iron overload which disrupts hormonal secretion resulting in hypogonadism, short stature , acquired hypothyroidism and hypoparathyroidism. Glucose intolerance and diabetes mellitus are also common in thalassaemic patients. The severity of the clinical manifestation and laboratory findings in thalassaemia largely depends on the genotype; thus homozygotes or compound heterozygotes for the mutations beta0 or beta+ depend for life on frequent transfusions. A multicenter study in Cyprus including 435 patients showed hypogonadotrophic hypogonadism in 32.5%, short stature in 35%, acquired hypothyroidism in 5.9%, hypoparathyroidism in 1.2% and diabetes mellitus in 9.4%. A slowing down of growth velocity and a reduced or absent pubertal growth spurt is observed in early adolescence leading to short adult height. Delayed or absent puberty and hypogonadism may result in fertility problems which affect enormously the life of thalassemics. Glucose intolerance in adolescence and diabetes mellitus later in life are also frequent complications mainly due to iron overload, chronic liver disease and genetic predisposition. Primary hypothyroidism and hypoparathyroidsm usually appear in the second decade of life; are related to iron overload and may be reversible at an early stage by intensive chelation. Osteopenia and osteoporosis due to a complicated pathogenesis represent prominent causes of morbidity in young adults of both genders with thalassaemia. Early recognition and prevention of the endocrine complications, by early and regular chelation therapy, is mandatory for the improvement of the quality of life and psychological outcome of these patients. PMID:18084158

Toumba, Meropi; Sergis, Andreas; Kanaris, Constantinos; Skordis, Nicos

2007-12-01

34

Distribution of Alpha Thalassaemia Gene Variants in Diverse Ethnic Populations in Malaysia: Data from the Institute for Medical Research  

PubMed Central

Alpha thalassaemia is highly prevalent in the plural society of Malaysia and is a public health problem. Haematological and molecular data from 5016 unrelated patients referred from various hospitals to the Institute for Medical Research for ? thalassaemia screening from 2007 to 2010 were retrieved. The aims of this retrospective analysis were to describe the distribution of various alpha thalassaemia alleles in different ethnic groups, along with their genotypic interactions, and to illustrate the haematological changes associated with each phenotype. Amongst the patients, 51.2% (n = 2567) were diagnosed with ? thalassaemia. Of the 13 ? thalassaemia determinants screened, eight different deletions and mutations were demonstrated: three double gene deletions, – – SEA, – – THAI, ––FIL; two single-gene deletions, ?–3.7 and – ?4.2; and three non-deletion mutations, Cd59G > A (haemoglobin [Hb] Adana), Cd125T > C (Hb Quong Sze) and Cd142 (Hb Constant Spring). A high incidence of ?–3.7 deletion was observed in Malays, Indians, Sabahans, Sarawakians and Orang Asli people. However, the – – SEA deletion was the most common cause of alpha thalassaemia in Chinese, followed by the ?–3.7 deletion. As many as 27 genotypic interactions showed 1023 ? thalassaemia silent carriers, 196 homozygous ?+ thalassaemia traits, 973 heterozygous ?0 thalassaemia carriers and 375 patients with Hb H disease. Statistical analysis showed a significant difference in the distribution of ? thalassaemia determinants amongst the various ethnic groups. Hence, the heterogeneous distribution of common determinants indicated that the introduction of an ethnicity-targeted hierarchical ? thalassaemia screening approach in this multi-ethnic Malaysian population would be effective.

Ahmad, Rahimah; Saleem, Mohamed; Aloysious, Nisha Sabrina; Yelumalai, Punithawathy; Mohamed, Nurul; Hassan, Syahzuwan

2013-01-01

35

Rheumatoid arthritis in beta-thalassemic trait: clinical, serologic and immunogenetic profile  

Microsoft Academic Search

Objectives. – To investigate the clinical, serologic, radiologic and immunogenetic characteristics of rheumatoid arthritis (RA) occurring in patients with beta-thalassemic trait as compared with RA in control patients from the same geographical area.Materials and methods. – Twenty-eight patients with beta-thalassemic trait fulfilling the American College of Rheumatology (ACR) criteria for RA were compared with a control group of twenty-eight RA

Roberto Caporali; Serena Bugatti; Silvia Rossi; Lorenzo Cavagna; Laura Bogliolo; Carlomaurizio Montecucco

2004-01-01

36

Evaluation and Cost Analysis of National Health Policy of Thalassaemia Screening in West-Azerbaijan Province of Iran  

PubMed Central

Background: Thalassaemia is one of the most common Mendelian disorders in Mediterranean area. Iran has about 26,000 Thalassaemic patients, so it is one of the most affected countries. The aim of this study was to evaluate the screening program and cost analysis of Thalassaemia prevention program in West-Azerbaijan province of Iran. Methods: This study evaluated the efficacy of Health system's Thalassaemia prevention program with a sensitivity analysis for its costs. The second five years of the program was evaluated. The economic burden of Thalassaemia is determined by the birth prevalence of the affected infants and the cost that is accrued to treat the infected individuals and was compared with the total cost of screening the couples for thalassemia trait. Results: The average incidence rate of major Thalassaemia was 19.8 per 100,000 live births and mean coverage rate of program was 74%. The rate of canceling the marriage among carrier couples was 53%. Cost analysis showed that the cost of screening and prenatal diagnosis program was much lower than the cost of treatment in potential thalassaemic patients. Conclusions: The prevention program of Thalassaemia including a premarital and pre-natal screening in west Azerbaijan province is demonstrated to be cost-effective. Taking some actions in order to increase the coverage of pre-marital screening, providing pre-natal diagnosis in private and public sector, complete insurance coverage for the high-risk couples to perform the investigations more easily, were recommended.

Ahmadnezhad, Elham; Sepehrvand, Nariman; Jahani, Farshid Fayyaz; Hatami, Sanaz; Kargar, Catauon; Mirmohammadkhani, Majid; Bazargan-Hejazi, Shahrzad

2012-01-01

37

Molecular Characterization of ?- and ?-Thalassaemia among Malay Patients  

PubMed Central

Both ?- and ?-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the ?- and ?-thalassaemia deletions and mutations among Malays from Penang, Gap-PCR and multiplexed amplification refractory mutation systems were used to study 13 ?-thalassaemia determinants and 20 ?-thalassaemia mutations in 28 and 40 unrelated Malays, respectively. Four ?-thalassaemia deletions and mutations were demonstrated. ??SEA deletion and ?CS? accounted for more than 70% of the ?-thalassaemia alleles. Out of the 20 ?-thalassaemia alleles studied, nine different ?-thalassaemia mutations were identified of which ?E accounted for more than 40%. We concluded that the highest prevalence of (?- and ?-thalassaemia alleles in the Malays from Penang are ??SEA deletion and ?E mutation, respectively.

Mohd Yatim, Nur Fatihah; Abd. Rahim, Masitah; Menon, Kavitha; Al-Hassan, Faisal Muti; Ahmad, Rahimah; Manocha, Anita Bhajan; Saleem, Mohamed; Yahaya, Badrul Hisham

2014-01-01

38

Cirrhosis associated with multiple transfusions in thalassaemia.  

PubMed Central

The study of surgical liver biopsy specimens obtained during splenectomy in 86 children with thalassaemia indicated that such patients may develop liver disease that evolves into cirrhosis. Histological characteristics suggest that it is post-necrotic cirrhosis. Onset of cirrhosis in some patients may occur as early as 7-8 years old, and at age about 15-16 years most children with thalassaemia show features of cirrhosis. In addition to fibrosis, hepatitis, or even aggressive hepatitis may develop as has also been observed in patients without thalassaemia who have undergone multiple transfusions. This study presents the current probable evolution of liver disease in patients with thalassaemia and may thus serve as a reference from which to evaluate any future progress in the treatment and care of patients with Cooley's disease. Images Fig. 1 Fig. 2

Jean, G; Terzoli, S; Mauri, R; Borghetti, L; Di Palma, A; Piga, A; Magliano, M; Melevendi, M; Cattaneo, M

1984-01-01

39

Hematological Indices for Differential Diagnosis of Beta Thalassemia Trait and Iron Deficiency Anemia  

PubMed Central

Background. The two most frequent types of microcytic anemia are beta thalassemia trait (?-TT) and iron deficiency anemia (IDA). We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and ?-TT in the same patient groups. Methods. A total of 290 carefully selected children aged 1.1–16 years were evaluated. We calculated 12 discrimination indices in all patients with hemoglobin (Hb) values of 8.7–11.4?g/dL. None of the subjects had a combined case of IDA and ?-TT. All children with IDA received oral iron for 16 weeks, and HbA2 screening was performed after iron therapy. The patient groups were evaluated according to red blood cell (RBC) count; red blood distribution width index; the Mentzer, Shine and Lal, England and Fraser, Srivastava and Bevington, Green and King, Ricerca, Sirdah, and Ehsani indices; mean density of hemoglobin/liter of blood; and mean cell density of hemoglobin. Results. The Mentzer index was the most reliable index, as it had the highest sensitivity (98.7%), specificity (82.3%), and Youden's index (81%) for detecting ?-TT; this was followed by the Ehsani index (94.8%, 73.5%, and 68.3%, resp.) and RBC count (94.8%, 70.5%, and 65.3%). Conclusion. The Mentzer index provided the highest reliabilities for differentiating ?-TT from IDA.

Vehapoglu, Aysel; Ozgurhan, Gamze; Demir, Aysegul Dogan; Uzuner, Selcuk; Nursoy, Mustafa Atilla; Turkmen, Serdar; Kacan, Arzu

2014-01-01

40

Hematological indices for differential diagnosis of Beta thalassemia trait and iron deficiency anemia.  

PubMed

Background. The two most frequent types of microcytic anemia are beta thalassemia trait ( ? -TT) and iron deficiency anemia (IDA). We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and ? -TT in the same patient groups. Methods. A total of 290 carefully selected children aged 1.1-16 years were evaluated. We calculated 12 discrimination indices in all patients with hemoglobin (Hb) values of 8.7-11.4?g/dL. None of the subjects had a combined case of IDA and ? -TT. All children with IDA received oral iron for 16 weeks, and HbA2 screening was performed after iron therapy. The patient groups were evaluated according to red blood cell (RBC) count; red blood distribution width index; the Mentzer, Shine and Lal, England and Fraser, Srivastava and Bevington, Green and King, Ricerca, Sirdah, and Ehsani indices; mean density of hemoglobin/liter of blood; and mean cell density of hemoglobin. Results. The Mentzer index was the most reliable index, as it had the highest sensitivity (98.7%), specificity (82.3%), and Youden's index (81%) for detecting ? -TT; this was followed by the Ehsani index (94.8%, 73.5%, and 68.3%, resp.) and RBC count (94.8%, 70.5%, and 65.3%). Conclusion. The Mentzer index provided the highest reliabilities for differentiating ? -TT from IDA. PMID:24818016

Vehapoglu, Aysel; Ozgurhan, Gamze; Demir, Ay?egul Dogan; Uzuner, Selcuk; Nursoy, Mustafa Atilla; Turkmen, Serdar; Kacan, Arzu

2014-01-01

41

Coexisting iron deficiency anemia and Beta thalassemia trait: effect of iron therapy on red cell parameters and hemoglobin subtypes.  

PubMed

Background. Coexistence of iron deficiency anemia (IDA) and beta thalassemia trait (BTT) has been the topic of few studies. However, no study from our country was found evaluating the effect of iron therapy in patients with concomitant IDA and BTT. Methods. Over a period of two years, 30 patients with concomitant IDA and BTT were included. All the patients had a complete blood count, serum iron studies, and thalassemia screening using BIORADTM hemoglobin testing system. The patients received oral iron therapy in appropriate dosages for a period of twenty weeks, after which all the investigations were repeated. Appropriate statistical methods were applied for comparison of pre- and posttherapy data. Results. All except two patients were adults with a marked female preponderance. Oral iron therapy led to statistically significant improvement in hemoglobin, red cell indices (P < 0.05), and marked change in serum iron, ferritin, and HbA2 levels (P < 0.001). There was a significant reduction in the total iron binding capacity levels. Conclusion. The present study shows the frequent occurrence of iron deficiency anemia in patients with beta thalassemia trait, which can potentially confound the diagnosis of the latter. Hence, iron deficiency should be identified and rectified in patients with suspicion of beta thalassemia trait. PMID:25006473

Verma, Sarika; Gupta, Ruchika; Kudesia, Madhur; Mathur, Alka; Krishan, Gopal; Singh, Sompal

2014-01-01

42

Coexisting Iron Deficiency Anemia and Beta Thalassemia Trait: Effect of Iron Therapy on Red Cell Parameters and Hemoglobin Subtypes  

PubMed Central

Background. Coexistence of iron deficiency anemia (IDA) and beta thalassemia trait (BTT) has been the topic of few studies. However, no study from our country was found evaluating the effect of iron therapy in patients with concomitant IDA and BTT. Methods. Over a period of two years, 30 patients with concomitant IDA and BTT were included. All the patients had a complete blood count, serum iron studies, and thalassemia screening using BIORADTM hemoglobin testing system. The patients received oral iron therapy in appropriate dosages for a period of twenty weeks, after which all the investigations were repeated. Appropriate statistical methods were applied for comparison of pre- and posttherapy data. Results. All except two patients were adults with a marked female preponderance. Oral iron therapy led to statistically significant improvement in hemoglobin, red cell indices (P < 0.05), and marked change in serum iron, ferritin, and HbA2 levels (P < 0.001). There was a significant reduction in the total iron binding capacity levels. Conclusion. The present study shows the frequent occurrence of iron deficiency anemia in patients with beta thalassemia trait, which can potentially confound the diagnosis of the latter. Hence, iron deficiency should be identified and rectified in patients with suspicion of beta thalassemia trait.

Verma, Sarika; Gupta, Ruchika; Kudesia, Madhur; Mathur, Alka; Krishan, Gopal; Singh, Sompal

2014-01-01

43

Update on fertility in thalassaemia major.  

PubMed

Therapeutic advances in thalassaemia major have significantly increased the average lifespan and improved the quality of life in thalassaemic patients. Therefore attainment of reproductive capacity and creation of a family has become a great task. Endocrine complications due to haemosiderosis and especially hypogonadotrophic hypogonadism are still present in a significant number of patients worldwide and often becomes a barrier in their desire for parenthood. The report of 358 successful pregnancies so far has provided strong evidence not only for the absence of any deleterious effect on the course of thalassaemia but also for the safety of the pregnancy in the thalassaemic woman. Ovarian function is well preserved in women suffering primary or secondary amenorrhea as they become able to conceive following a closely monitored stimulation therapy. The desire of the thalassaemic woman to become a mother is always viewed with special caution and sensitivity. Ambitions of this sort pose numerous medico legal and ethical issues that need to be addressed prudently if the patients' quality of life is to be optimized. PMID:16462715

Skordis, Nicos; Petrikkos, Loizos; Toumba, Meropi; Hadjigavriel, Michael; Sitarou, Maria; Kolnakou, Annita; Skordos, George; Pangalou, Evi; Christou, Soteroulla

2004-12-01

44

A thalassaemia intermedia case with concomitant left atrial thrombus.  

PubMed

Although marked improvements have been observed in the life expectancy of patients with thalassaemia by regular blood transfusion and strict iron chelation therapies in recent years, these patients still have to deal with several complications, mainly cardiovascular. One of the life-threatening complications is the chronic hypercoagulable state and thromboembolic events which develop due to haemostatic alterations in patients with thalassaemia, although they are more frequently seen in those with thalassaemia intermedia. Many thromboembolic complications, mainly deep venous thrombosis and cerebral thrombosis, have been reported in thalassaemia. However, intracardiac thrombosis is rarely seen. In this manuscript, we presented a case that underwent splenectomy 6?years ago but not regularly attended the control visits and presented to our clinic with gradually increasing exercise dyspnoea for 2?months. PMID:24951612

Sahin, Cem; Basaran, Ozcan; Topal, Yasar; Akin, Fatih

2014-01-01

45

Joint diabetes thalassaemia clinic: an effective new model of care.  

PubMed

Diabetes is a significant complication of ?-thalassemia major (?-TM) and most patients receive fragmented diabetes care. In 2005, we developed a unique Joint Diabetes Thalassaemia Clinic, based at the Department of Diabetes, Whittington Health, London, UK, where patients were reviewed jointly by a multidisciplinary team, including Consultant Diabetologist and Hematologist. Study of the Joint Diabetes Thalassaemia Clinic (2005-2009) showed improvement in glycemic control with fructosamine reduction from 344 umol/L to 319 umol/L over a 1-year period as well as improvement in lipid profiles. The proportion of patients attending the Joint Clinic who achieved metabolic targets compared to the National Diabetes Audit for England was higher for glycemic control (73.0 Joint Diabetes Thalassaemia Clinic vs. 63.0% nationally), blood pressure control (58.0 Joint Diabetes Thalassaemia Clinic vs. 30.0% nationally) and cholesterol control (81.0 Joint Diabetes Thalassaemia Clinic vs. 78.0% nationally). Five patients (22.7%) had microvascular complications. A significant proportion of our patients had endocrinopathies (86.0% hypogonadism, 18.0% hypothyroidism, 23.0% hypoparathyroidism). The unique partnership of our Joint Diabetes Thalassaemia Clinic, allowed these very complex patients to be managed effectively. PMID:24351096

Tzoulis, Ploutarchos; Shah, Farrukh; Jones, Romilla; Prescott, Emma; Barnard, Maria

2014-01-01

46

Increased leucocyte apoptosis in transfused ?-thalassaemia patients.  

PubMed

This exploratory study assessed apoptosis in peripheral blood leucocytes (PBL) from ?-thalassaemia patients receiving chronic transfusions and chelation therapy (deferasirox or deferoxamine) at baseline, 1, 6, and 12 months. At baseline, thalassaemic PBLs presented 50% greater levels of Bax (BAX), 75% higher caspase-3/7, 48% higher caspase-8 and 88% higher caspase-9 activities and 428% more nucleosomal DNA fragmentation than control subjects. Only neutrophils correlated significantly with apoptotic markers. Previously, we showed that over the treatment year, hepatic iron declined; we now show that the ratio of Bax/Bcl-2 (BCL2), (-27·3%/year), and caspase-9 activity (-13·3%/year) declined in both treatment groups, suggesting that chelation decreases body iron and indicators of PBL apoptosis. PMID:23216540

Walter, Patrick B; Porter, John; Evans, Patricia; Kwiatkowski, Janet L; Neufeld, Ellis J; Coates, Thomas; Giardina, Patricia J; Grady, Robert W; Vichinsky, Elliott; Olivieri, Nancy; Trachtenberg, Felicia; Alberti, Daniele; Fung, Ellen; Ames, Bruce; Higa, Annie; Harmatz, Paul

2013-02-01

47

Resistance of human squamous carcinoma cells to transforming growth factor beta 1 is a recessive trait.  

PubMed Central

Because most human squamous carcinoma cell lines of the aerodigestive and genital tracts are refractory to the antiproliferative action of transforming growth factor beta 1 (TGF beta 1) in vitro, we have begun to identify the causes for resistance of squamous carcinoma cell lines to TGF beta 1 by using somatic cell genetics. Two stable hybrid cell lines (FaDu-HKc.1 and FaDu-HKc.2) were obtained by fusing a TGF beta 1-resistant human squamous carcinoma cell line, FaDu-HygR, with a human papilloma virus 16-immortalized, TGF beta 1-sensitive, human foreskin keratinocyte cell line, HKc-neoR. Whereas TGF beta 1 did not inhibit DNA synthesis in parental FaDu-HygR cells, it reduced DNA synthetic activity of HKc-neoR, FaDu-HKc.1, and FaDu-HKc.2 cells by 75-85% (IC50, 2-5 pM). Although squamous carcinoma cells express lower than normal levels of TGF beta 1 type II receptors on their cell surface, TGF beta 1 type II receptor mRNA was detected in all four cell lines. Recessive genes involved in TGF beta 1 signaling may be localized to the distal portion of chromosome 18q, as this was the sole chromosomal region of homozygous deletion in parental FaDu-HygR cells. Furthermore, our previous observation that mutant p53 decreases sensitivity of keratinocytes to TGF beta 1 was supported by the finding that the level of the mutant p53 protein expressed by the hybrid cell lines was greatly reduced. In summary, TGF beta 1 resistance of FaDu cells appears to be recessive and is presumably due to the loss of one or more post-receptor elements of the signaling pathway. Images Fig. 1 Fig. 2 Fig. 4 Fig. 5 Fig. 6

Reiss, M; Munoz-Antonia, T; Cowan, J M; Wilkins, P C; Zhou, Z L; Vellucci, V F

1993-01-01

48

Sickle-cell Anaemia, Sickle-cell Thalassaemia, Sickle-cell Haemoglobin C Disease, and Asymptomatic Haemoglobin C Thalassaemia in one Ghanaian Family  

Microsoft Academic Search

A Ghanaian family is described in which a sickle-cell haemoglobin C man married to a sickle-cell thalassaemia woman produced 12 children (eight alive). Four children have sickle-cell anaemia, two sickle-cell haemoglobin C disease, one has sickle-cell thalassaemia, and one is asymptomatic haemoglobin C thalassaemia.It is emphasized that the contribution that adult sickle-cell disease patients make, through procreation, to the persistence

F. I. D. Konotey-Ahulu; Bela Ringelhann

1969-01-01

49

Genetic variants of beta-lactoglobulin gene and its association with milk composition traits in riverine buffalo.  

PubMed

A study was carried out to determine genetic variants of beta-lactoglobulin gene and to explore associations between these and milk composition traits in riverine buffalo. Single strand conformation polymorphism was employed to detect the genetic variants of the gene. Two fragments of this gene i.e. 119 bp of exon I and 400 bp spanning exon IV and intron IV were included in the study. For 119 bp fragment, three alleles namely, A, B and C were observed in all the buffalo breeds whereas four alleles (A, B, C and D) were detected for 400 bp fragment. The frequency distribution of alleles was different in different breeds of buffaloes for both the fragments. For exon I fragment, the milk composition traits such as total SNF, protein, solid, fat and whey protein yield were found to be significantly (P<0.05) associated with genotypes in Murrah and Bhadawari buffalo whereas in Mehsana breed genotypes were significantly (P<0.05) co-related with total SNF, solid and fat yield. Genotypes of 400 bp fragment, only total fat yield in Mehsana buffalo was found to be significantly (P<0.05) associated with genotypes. PMID:16987433

Vohra, Vikas; Kumar Bhattacharya, Tarun; Dayal, Shanker; Kumar, Pushpendra; Sharma, Arjava

2006-11-01

50

Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.  

PubMed

Non-deletional ?(+)-thalassaemia is associated with a higher degree of morbidity and mortality than deletional forms of ?(+)-thalassaemia. Screening for the common deletional forms of ?-thalassaemia by Gap-PCR is widely practiced; however, the detection of non-deletional ?-thalassaemia mutations is technically more labour-intensive and expensive, as it requires DNA sequencing. In addition, the presence of four very closely homologous alpha globin genes and the frequent co-existence of deletional forms of ?-thalassaemia present another layer of complexity in the detection of these mutations. With growing evidence that non-deletional ?-thalassaemia is relatively common in the UK, there is a demand for technologies which can quickly and accurately screen for these mutations. We describe a method utilising pyrosequencing for detecting the ten most common clinically significant non-deletional ?-thalassaemia mutations in the UK. We tested 105 patients with non-deletional ?-thalassaemia and found 100% concordance with known genotype as identified by Sanger sequencing. We found pyrosequencing to be simpler, more robust, quicker, and cheaper than conventional sequencing, making it a good choice for rapid and cost-effective diagnosis of patients with suspected non-deletional ?-thalassaemia. The technique is also likely to help expedite prenatal diagnosis of pregnancies at risk of ?-thalassaemia major. PMID:20567827

Haywood, Anna; Dreau, Helene; Timbs, Adele; Schuh, Anna; Old, John; Henderson, Shirley

2010-12-01

51

Arterial ischemic stroke in a child with beta-thalassemia trait and methylentetrahydrofolate reductase mutation.  

PubMed

Genetic and acquired disorders that foster a procoagulable state represent risk factors for stroke in childhood. Although an increased incidence of thromboembolic complications has been reported in patients with thalassemia, severe cerebral thromboembolism has rarely been observed in patients with beta-thalassemia minor. This article describes a case study of a 1-year-old boy who presented with left-sided hemiparesis, seizures, microcytic anemia, and recent infection with reactive thrombocytosis. Ischemic infarction in the territory of the right middle cerebral artery was confirmed by magnetic resonance imaging and magnetic resonance angiography. Genetic tests showed that the patient was heterozygous for the beta(degrees) -thalassemia IVS-I-1 mutation and homozygous for the methylentetrahydrofolate reductase C677T mutation. Based on these findings, it was concluded that the synergistic effects of multiple, genetic, and acquired prothrombotic risk factors brought about the hypercoagulable state that resulted in overt stroke in a thalassemic patient in early childhood. PMID:17621484

Brankovic-Sreckovic, Vesna; Milic Rasic, Vedrana; Djordjevic, Valentina; Kuzmanovic, Milos; Pavlovic, Sonja

2007-02-01

52

Co-inheritance of compound heterozygous Hb Constant Spring and a single -alpha(3.7) gene deletion with heterozygous deltabeta thalassaemia: a diagnostic challenge.  

PubMed

Haemoglobin Constant Spring (Hb CS) mutation and single gene deletions are common underlying genetic abnormalities for alpha thalassaemias. Co-inheritance of deletional and non-deletional alpha (alpha) thalassaemias may result in various thalassaemia syndromes. Concomitant co-inheritance with beta (beta) and delta (delta) gene abnormalities would result in improved clinical phenotype. We report here a 33-year-old male patient who was admitted with dengue haemorrhagic fever, with a background history of Grave's disease, incidentally noted to have mild hypochromic microcytic red cell indices. Physical examination revealed no thalassaemic features or hepatosplenomegaly. His full blood picture showed hypochromic microcytic red cells with normal haemoglobin (Hb) level. Quantitation of Hb using high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) revealed raised Hb F, normal Hb A2 and Hb A levels. There was also small peak of Hb CS noted in CE. H inclusions was negative. Kleihauer test was positive with heterocellular distribution of Hb F among the red cells. DNA analysis for alpha globin gene mutations showed a single -alpha(-3.7) deletion and Hb CS mutation. These findings were suggestive of compound heterozygosity of Hb CS and a single -alpha(-3.7) deletion with a concomitant heterozygous deltabeta thalassaemia. Co-inheritance of Hb CS and a single -alpha(-3.7) deletion is expected to result at the very least in a clinical phenotype similar to that of two alpha genes deletion. However we demonstrate here a phenotypic modification of alpha thalassemia presumptively as a result of co-inheritance with deltabeta chain abnormality as suggested by the high Hb F level. PMID:22870600

Azma, Raja Zahratul; Othman, Ainoon; Azman, Norazlina; Alauddin, Hafiza; Ithnin, Azlin; Yusof, Nurasyikin; Razak, Noor Farisah; Sardi, Nor Hidayati; Hussin, Noor Hamidah

2012-06-01

53

Evolutionary optimization of life-history traits in the sea beet Beta vulgaris subsp. maritima: Comparing model to data  

NASA Astrophysics Data System (ADS)

At evolutionary equilibrium, ecological factors will determine the optimal combination of life-history trait values of an organism. This optimum can be assessed by assuming that the species maximizes some criterion of fitness such as the Malthusian coefficient or lifetime reproductive success depending on the degree of density-dependence. We investigated the impact of the amount of resources and habitat stability on a plant's age at maturity and life span by using an evolutionary optimization model in combination with empirical data. We conducted this study on sea beet, Beta vulgaris subsp. maritima, because of its large variation in life span and age at first reproduction along a latitudinal gradient including considerable ecological variation. We also compared the consequence in our evolutionary model of maximizing either the Malthusian coefficient or the lifetime reproductive success. Both the data analysis and the results of evolutionary modeling pointed to habitat disturbance and resources like length of the growing season as factors negatively related to life span and age at maturity in sea beet. Resource availability had a negative theoretical influence with the Malthusian coefficient as the chosen optimality criterion, while there was no influence in the case of lifetime reproductive success. As suggested by previous theoretical work the final conclusion on what criterion is more adequate depends on the assumptions of how in reality density-dependence restrains population growth. In our case of sea beet data R0 seems to be less appropriate than ?.

Hautekèete, N.-C.; Van Dijk, H.; Piquot, Y.; Teriokhin, A.

2009-01-01

54

?-Thalassaemia prototype of a single gene disorder with multiple phenotypes  

Microsoft Academic Search

As the defective genes for more and more genetic disorders become unravelled, it is clear that patients with the same genotype\\u000a can have many different clinical conditions even in monogenic disorders. The remarkable phenotypic diversity of the ?thalassaemias\\u000a is prototypical of how the wide spectrum in disease severity can be generated. The most reliable and predictive factor of\\u000a disease phenotype

Swee Lay Thein

2002-01-01

55

First Successful Preimplantation Genetic Diagnosis in Singapore - Avoidance of ?-Thalassaemia Major  

Microsoft Academic Search

Introduction: We report on the fi rst successful preimplantation genetic diagnosis (PGD) in Singapore. Clinical Picture: A couple who are ?-thalassaemia carriers and have an affected daughter requested for PGD. Treatment: Two cycles of PGD were performed on the couple. ?-thalassaemia mutations were detected using a nested PCR and minisequencing strategy, and unaffected embryos were selected for transfer. Outcome: A

Christine Yap; Wen Wang; Mui Nee Lim; Samuel S Chong

56

Oxidative stress and inflammation in iron-overloaded patients with ?-thalassaemia or sickle cell disease  

PubMed Central

Summary Blood transfusion therapy is life-saving for patients with ?-thalassaemia and sickle cell disease (SCD), but often results in severe iron overload. This pilot study examined whether the biomarkers of tissue injury or inflammation differ in these two diseases. Plasma malondialdehyde (MDA) was significantly increased 1.8-fold in thalassaemia relative to control patients. In contrast, MDA in SCD was not significantly different from controls. In multivariate analysis, the strongest predictors of elevated MDA were liver iron concentration (P < 0.001) and specific diagnosis (P = 0.019). A significant 2-fold elevation of non-transferrin bound iron (NTBI) was observed in thalassaemia relative to SCD. NTBI was not a significant predictor of high MDA in multivariate analysis. SCD patients showed a significant 2.2-fold elevation of the inflammatory marker interleukin (IL)-6 relative to controls, and a 3.6- and 1.7-fold increase in IL-5 and IL-10 relative to thalassaemia. Although ?-tocopherol was significantly decreased by at least 32% in both thalassaemia and SCD, indicating ongoing oxidant stress and antioxidant consumption, ?-tocopherol, a nitric oxide-selective antioxidant, was increased 36% in SCD relative to thalassaemia. These results demonstrate that thalassaemia patients have increased MDA and circulating NTBI relative to SCD patients and lower levels of some cytokines and ?-tocopherol. This supports the hypothesis that the biology of SCD may show increased inflammation and increased levels of protective antioxidants compared with thalassaemia.

Walter, Patrick B.; Fung, Ellen B.; Killilea, David W.; Jiang, Qing; Hudes, Mark; Madden, Jacqueline; Porter, John; Evans, Patricia; Vichinsky, Elliott; Harmatz, Paul

2007-01-01

57

Beta event-related desynchronization as an index of individual differences in processing human facial expression: further investigations of autistic traits in typically developing adults  

PubMed Central

The human mirror neuron system (hMNS) has been associated with various forms of social cognition and affective processing including vicarious experience. It has also been proposed that a faulty hMNS may underlie some of the deficits seen in the autism spectrum disorders (ASDs). In the present study we set out to investigate whether emotional facial expressions could modulate a putative EEG index of hMNS activation (mu suppression) and if so, would this differ according to the individual level of autistic traits [high versus low Autism Spectrum Quotient (AQ) score]. Participants were presented with 3 s films of actors opening and closing their hands (classic hMNS mu-suppression protocol) while simultaneously wearing happy, angry, or neutral expressions. Mu-suppression was measured in the alpha and low beta bands. The low AQ group displayed greater low beta event-related desynchronization (ERD) to both angry and neutral expressions. The high AQ group displayed greater low beta ERD to angry than to happy expressions. There was also significantly more low beta ERD to happy faces for the low than for the high AQ group. In conclusion, an interesting interaction between AQ group and emotional expression revealed that hMNS activation can be modulated by emotional facial expressions and that this is differentiated according to individual differences in the level of autistic traits. The EEG index of hMNS activation (mu suppression) seems to be a sensitive measure of the variability in facial processing in typically developing individuals with high and low self-reported traits of autism.

Cooper, Nicholas R.; Simpson, Andrew; Till, Amy; Simmons, Kelly; Puzzo, Ignazio

2013-01-01

58

Benign Obstetric History in Women with Sickle-cell Anaemia Associated with ?-Thalassaemia  

PubMed Central

Two Ghanaian women with sickle-cell anaemia and ?-thalassaemia were found to have an unusually benign obstetric history. In addition to two factors present which are known to moderate the clinical course of sickle-cell anaemia, good socioeconomic status and a relatively high Hb F level, it is suggested that ?-thalassaemia may act among other things by lowering the haemoglobin concentration in the red cells and thereby lowering their tendency to sickle in vivo.

van Enk, A.; Lang, A.; White, J. M.; Lehmann, H.

1972-01-01

59

The Effect of ? +Thalassaemia on the Incidence of Malaria and Other Diseases in Children Living on the Coast of Kenya  

Microsoft Academic Search

BackgroundThe ?-thalassaemias are the commonest genetic disorders of humans. It is generally believed that this high frequency reflects selection through a survival advantage against death from malaria; nevertheless, the epidemiological description of the relationships between ?-thalassaemia, malaria, and other common causes of child mortality remains incomplete.Methods and FindingsWe studied the ?+-thalassaemia-specific incidence of malaria and other common childhood diseases in

Sammy Wambua; Tabitha W. Mwangi; Moses Kortok; Sophie M. Uyoga; Alex W. Macharia; Jedidah K. Mwacharo; David J. Weatherall; Robert W. Snow; Kevin Marsh; Thomas N. Williams

2006-01-01

60

Pain in thalassaemia: the effects of age on pain frequency and severity.  

PubMed

Pain is not a symptom generally associated with thalassaemia. However, providers have noted increasing patient reports of pain, creating an impetus for this prospective, observational assessment of pain in thalassaemia patients. The primary study goals were to assess pain prevalence, severity, location, and potential risk factors. This was a multicentre, prospective study of thalassaemia patients receiving care at 12 Thalassaemia Clinical Research Network sites. Pain was assessed using the Brief Pain Inventory. Two hundred and fifty-two thalassaemia patients ranging in age from 12 to 71 years (mean 28.8) were enrolled. Sixty-four per cent reported experiencing pain during the last 4 weeks, 22% of whom reported pain on a daily basis. Ordinal regression analysis of pain ratings demonstrated significant (P < 0.001) correlation of increased age with increased pain, irrespective of diagnosis, transfusion status, gender, bone density, chelator type or iron overload. Eighty-one per cent reported having pain for 1 year or longer and 31% reported pain for five or more years. Pain is a major cause of morbidity and an unrecognized problem for patients with thalassaemia. Age is the strongest predictor of frequency and severity. Little else is known about the aetiology and predictors of this pain syndrome. PMID:23278768

Haines, Dru; Martin, Marie; Carson, Susan; Oliveros, Olivia; Green, Sage; Coates, Thomas; Eile, Jennifer; Schilling, Leann; Dinu, Bogan; Mendoza, Tito; Gerstenberger, Eric; Trachtenberg, Felicia; Vichinsky, Elliott

2013-03-01

61

A quantitative trait locus on chromosome 4 affects cycling of hematopoietic stem and progenitor cells through regulation of TGF-beta 2 responsiveness.  

PubMed

The hematopoietic stem and progenitor cell (HSPC) compartment is subject to extensive quantitative genetic variation. We have previously shown that TGF-beta2 at low concentrations enhances flt3 ligand-induced growth of HSPCs, while it is potently antiproliferative at higher concentrations. This in vitro enhancing effect was subject to quantitative genetic variation, for which a quantitative trait locus (QTL) was tentatively mapped to chromosome 4 (chr.4). Tgfb2(+/-) mice have a smaller and more slowly cycling HSPC compartment, which has a decreased serial repopulation capacity, and are less susceptible to the lethal effect of high doses of 5-fluorouracil. To unequivocally demonstrate that these phenotypes can be attributed to the enhancing effect of TGF-beta2 on HSPC proliferation observed in vitro and are therefore subject to mouse strain-dependent variation as well, we generated congenic mice where the telomeric region of chr.4 was introgressed from DBA/2 into C57BL/6 mice. In these mice, the enhancing effect of TGF-beta2 on flt3 signaling, but not the generic antiproliferative effect of high concentrations of TGF-beta2, was abrogated, confirming the location of this QTL, which we named tb2r1, on chr.4. These mice shared a smaller and more slowly cycling HSPC compartment and increased 5-fluorouracil resistance but not a decreased serial repopulation capacity with Tgfb2(+/-) mice. The concordance of phenotypes between Tgfb2(+/-) and congenic mice indicates that HSPC frequency and cycling are regulated by tb2r1, while an additional QTL in the telomeric region of chr.4 may regulate the serial repopulation capacity of hematopoietic stem cells. PMID:18941179

Avagyan, Serine; Glouchkova, Ludmila; Choi, Juhyun; Snoeck, Hans-Willem

2008-11-01

62

Iron overload and glucose metabolism in subjects with ?-thalassaemia major: an overview.  

PubMed

Thalassaemia is one of the most common genetic disorders caused by a reduction of the globin chains leading to chronic haemolytic anaemia from birth. The mainstay of treatment is blood transfusion to maintain adequate levels of the haemoglobin. Iron overload in ?-thalassaemia major patients is secondary to multiple blood transfusions and increased iron absorption. Excess iron potentially catalyzes free-radicals generation and impairment in cellular function and integrity. Extensive iron-induced injury develops in the heart, liver, pancreas and endocrine system. Pancreatic iron loading in thalassaemia major patients begins at early childhood, and the prevalence of diabetes mellitus (DM) ranges from 6.4% to 14.1% in cross-sectional studies. Both insulin resistance and decreased insulin secretion contribute to DM in thalassaemia major patients. This has been shown by oral glucose tolerance test, euglycemic insulin clamp, homeostatic model assessment, intravenous glucose tolerance test and continuous glucose monitoring system. The prevalence of DM in thalassaemia has been shown to correlate with serum ferritin concentration, hepatitis C infection, and pancreatic and cardiac iron measured by imaging techniques. Therefore the incidence of disturbed glucose homeostasis depends on adherence to chelation treatment, the adequacy of the dosage, the chemical properties of the chelating agent and the prevention of liver infections. PMID:23687960

De Sanctis, Vincenzo; Soliman, Ashraf; Yassin, Mohamed

2013-07-01

63

Hormonal dysregulation and bones in thalassaemia--an overview.  

PubMed

Bone disease (BDT) represents a prominent cause of morbidity in patients of both sexes with thalassaemia major (TM). The exact pathogenesis of BDT in TM is multifactorial, still unclear and complicated. Peak bone mass is achieved shortly after completion of puberty and normally remains stable until the third decade of life. After the age of 30 years, age related bone loss begins. Growth hormone (GH) and sex steroids have a crucial role in bone remodelling and therefore are important in helping to establish and maintain peak bone mass for both sexes. The anabolic effects of GH and IGF-1 in bone are important not only for the acquisition of bone mass during adolescence but also for the maintenance of skeletal architecture during adult life. GH deficiency is not a rare finding in adult patients with TM, thus contributing to the development of BDT. Furthermore, patients with TM are often hypogonadal, and therefore the lack of sex steroids in critical periods, such as puberty, contributes to the failure to achieve optimal peak bone mass and to maintain bone mass later in life. Sex steroids probably act by increasing the expression of RANKL by osteoblastic cells, and alterations in the RANK/RANKL/OPG system in favour of osteoclasts are characteristic in TM, where the ratio of sRANKL/OPG is increased. It is still not clear whether DEXA scan is the gold standard for determination of bone density in thalassaemics and if so, whether the WHO criteria for defining osteopenia and osteoporosis are relevant to patients with TM. The question therefore arises whether other methods should be adopted, since DEXA may often overestimate BDT in these patients. BDT in thalassaemia represents a unique clinical entity with a multifactorial aetiology and of complex mechanisms which need to be clarified. It is essential for us to understand the underlying mechanisms of bone destruction and the bony defect at the ultrastructural level in order to be able to design not only preventive strategies but also therapeutic measures. PMID:19337163

Skordis, Nicos; Efstathiou, Elisavet; Kyriakou, Andreas; Toumba, Meropi

2008-10-01

64

Combination of two rare mutations causes ?-thalassaemia in a Bangladeshi patient.  

PubMed

Screening of mutations that cause ?-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92 C > G. The ?-thalassaemia major male individual was transfusion-dependent and had an atypical ?-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of the other mutation, HBB: -92 C > G, are unknown so far. Bioinformatics analyses were carried out to predict the possible effect of this mutation. These analyses revealed the presence of a putative binding site for Egr1, a transcription factor, within the HBB: -92 region. Our literature survey suggests a close relationship between different phenotypic manifestations of ?-thalassaemia and Egr1 expression. PMID:21931510

Moosa, Mahdi Muhammad; Ayub, Mustak Ibn; Bashar, Ama Emran; Sarwardi, Golam; Khan, Waqar; Khan, Haseena; Yeasmin, Sabina

2011-07-01

65

Psychological Vulnerability and Resilience in Children and Adolescents with Thalassaemia Major  

Microsoft Academic Search

Objectives: Chronic childhood illness may be a risk factor for psychosocial or psychiatric disturbances. Yet, children with chronic illnesses may also show resilience and active coping with varying degrees of success or failure. The present study aims to outline the patterns of coping and adjustment of patients with thalassaemia major, and identify specific developmental issues associated with living with the

ASM FUNG; PWH LEE

2008-01-01

66

The multifactorial origin of growth failure in thalassaemia.  

PubMed

Growth failure in thalassaemia major (TM) has been recognised for many years, and has persisted despite major therapeutic advances. The child with TM has a particular growth pattern, which is relatively normal until age 9-10 years; after this age a slowing down of growth velocity and reduced or absent pubertal growth spurt are observed. The pathogenesis of growth failure is multifactorial. The fundamental problem is the free iron and hemosiderosis-induced damage of the endocrine glands. Additional factors may contribute to the aetiology of growth delay including chronic anaemia and hypoxia, chronic liver disease, zinc and folic acid and nutritional deficiencies, intensive use of chelating agents, emotional factors, endocrinopathies (hypogonadism, delayed puberty, hypothyroidism, disturbed calcium homeostasis and bone disease) and last but not least dysregulation of the GH-IGF-1 axis.Three phases of growth disturbances according to age of presentation are well recognised, and have different aetiologies: in the first phase growth disturbance is mainly due to hypoxia, anaemia, ineffective erythropoiesis and nutritional factors. During late childhood (second phase), growth retardation is mainly due to iron overload affecting GH-IGF-1 axis and other potential endocrine complications. Although appropriate iron chelation therapy can improve growth and development, TM children and adolescents treated intensively with desferrioxamine remain short as well, showing body disproportion between the upper and lower body segment. After the age of 10-11 years (third phase), delayed or arrested puberty is an important contributing factor to growth failure in adolescent thalassaemics, who do not exhibit a normal growth spurt. During the last decades therapeutic progress and bone marrow transplantation resulted in a prolonged life expectancy in TM patients. Growth retardation, however, continues to be a significant challenge in these individuals, often affecting their social adjustment and quality of life. PMID:21705977

Skordis, Nicos; Kyriakou, Andreas

2011-03-01

67

Molecular characteristic of alpha thalassaemia among patients diagnosed in UKM Medical Centre.  

PubMed

Alpha (?) thalassaemia is the most common inherited disorder in Malaysia. The clinical severity is dependant on the number of ? genes involved. Full blood count (FBC) and haemoglobin (Hb) analysis using either gel electrophoresis, high performance liquid chromatography (HPLC) or capillary zone electrophoresis (CE) are unable to detect definitively alpha thalassaemia carriers. Definitive diagnosis of ?-thalassaemias requires molecular analysis and methods of detecting both common deletional and non-deletional molecular abnormailities are easily performed in any laboratory involved in molecular diagnostics. We carried out a retrospective analysis of 1623 cases referred to our laboratory in Universiti Kebangsaan Malaysia Medical Centre (UKMMC) for the diagnosis of ?-thalassaemia during the period October 2001 to December 2012. We examined the frequency of different types of alpha gene abnormalities and their haematologic features. Molecular diagnosis was made using a combination of multiplex polymerase reaction (PCR) and real time PCR to detect deletional and non-deletional alpha genes relevant to southeast Asian population. Genetic analysis confirmed the diagnosis of ?-thalassaemias in 736 cases. Majority of the cases were Chinese (53.1%) followed by Malays (44.2%), and Indians (2.7%). The most common gene abnormality was ??/--(SEA) (64.0%) followed by ??/-?(3.7) (19.8%), -?(3.7) /--(SEA) (6.9%), ??/??CS (3.0%), --(SEA)/--(SEA) (1.2%), -?(3.7)/-?(3.7) (1.1%), ??/-?(4.2) (0.7%), -?(4.2)/--(SEA (0.7%), -?(3.7)/-?(4.2) (0.5%), ??(CS)/-- SEA) (0.4%), ??(CS)/??(Cd59) (0.4%), ??(CS)/??(CS) (0.4%), -?(3.7)/??(Cd59) (0.3%), ??/??(Cd59) (0.1%), ??(Cd59)/ ??(IVS I-1) (0.1%), -?(3.7)/??(CS) (0.1%) and --(SEA) /??(Cd59) (0.1%). This data indicates that the molecular abnormalities of ?-thalassaemia in the Malaysian population is heterogenous. Although ?-gene deletion is the most common cause, non-deletional ?-gene abnormalities are not uncommon and at least 3 different mutations exist. Establishment of rapid and easy molecular techniques is important for definitive diagnosis of alpha thalassaemia, an important prerequisite for genetic counselling to prevent its deleterious complications. PMID:24763232

Azma, R Z; Ainoon, O; Azlin, I; Noor Farisah, N A R; Nor Hidayati, S; Noor Hamidah, H

2014-04-01

68

A quantitative trait locus on chr.4 affects cycling of hematopoietic stem and progenitor cells through regulation of transforming growth factor-beta 2 responsiveness  

PubMed Central

The hematopoietic stem and progenitor cell (HSPC) compartment is subject to extensive quantitative genetic variation. We have previously shown that transforming growth factor-beta 2 (TGF-?2) at low concentrations enhances flt3 ligand induced growth of HSPCs, while it is potently antiproliferative at higher concentrations. This in vitro enhancing effect was subject to quantitative genetic variation, for which a quantitative trait locus (QTL) was tentatively mapped to chr.4. Tgfb2+/- mice have a smaller and more slowly cycling HSPC compartment, which has a decreased serial repopulation capacity, and are less susceptible to the lethal effect of high doses of 5-fluorouracil (5-FU). To unequivocally demonstrate that these phenotypes can be attributed to the enhancing effect of TGF-?2 on HSPC proliferation observed in vitro and are therefore subject to mouse strain-dependent variation as well, we generated congenic mice where the telomeric region of chr.4 was introgressed from DBA/2 into C57BL/6 mice. In these mice, the enhancing effect of TGF-?2 on flt3 signaling, but not the generic antiproliferative effect of high concentrations of TGF-?2, was abrogated, confirming the location of this QTL, which we named tb2r1, on chr.4. These mice shared a smaller and more slowly cycling HSPC compartment, increased 5-FU resistance but not a decreased serial repopulation capacity with Tgfb2+/- mice. The concordance of phenotypes between Tgfb2+/- and congenic mice indicates that HSPC frequency and cycling are regulated by tb2r1, while an additional QTL in the telomeric region of chr.4 may regulate the serial repopulation capacity of HSCs.

Avagyan, Serine; Glouchkova, Ludmila; Choi, Juhyun; Snoeck, Hans-Willem

2008-01-01

69

Impact of psychosocial status and disease knowledge on deferoxamine adherence among thalassaemia major adolescents.  

PubMed

This cross-sectional study aimed to explore the relationship between psychosocial status, disease knowledge and adherence to deferoxamine treatment in adolescents with thalassaemia major. A purposive sample of 36 adolescents with transfusion dependence, ages 12-19 years, was recruited. A semi-structured interview and two structured questionnaires were used. In this sample, 56% were low adherence and 36% were psychologically impaired. Statistically significant factors associated with psychological impairment were: adolescents more than 16 years; low deferoxamine adherence; mean ferritin more than 2500??g/L; family size more than six; family income equal or less than 350 Jordanian dinar and having sibling with thalassaemia. Additionally, adolescents with high level of knowledge had significantly lower scores on Pediatric Symptom Checklist. PMID:24888999

Al-Kloub, Manal Ibrahim; Nayel Salameh, Taghreed; Froelicher, Erika Sivarajan

2014-06-01

70

T-Subset Abnormalities in Thalassaemia intermedia: Possible Evidence for a Thymus Functional Deficiency  

Microsoft Academic Search

Peripheral blood T-lymphocyte subsets, evaluated by means of a series of monoclonal antibodies, were assessed in 14 patients affected by thalassaemia intermedia, 7 of them previously splenectomized. A significant reduction of T+4 cells (‘helper’ T cells) was found in almost all patients, whereas T+8 cells (‘suppressor\\/cytotoxic’) showed a marked increase only in splenectomized subjects. Together with these quantitative T-subset abnormalities,

Patrizia Guglielmo; Francesco Cunsolo; Turiddu Lombardo; Grazia Sortino; Rosario Giustolisi; Emma Cacciola; Elio Cacciola

1984-01-01

71

Outcome of transplantation with unrelated donor bone marrow in children with severe thalassaemia  

Microsoft Academic Search

We conducted a study of unrelated donor bone marrow transplantation (BMT) in 11 children with severe thalassaemia. The conditioning regimen consisted of busulphan, cyclophosphamide and antilymphocyte globulin. All received T-cell nondepleted bone marrow. The median marrow-nucleated cell dose was 4.9 × 108 \\/kg (range; 3.5?8.0 × 108 \\/kg). Median time of granulocyte recovery was 16 days (range; 13–21 days), and

S Hongeng; S Pakakasama; W Chaisiripoomkere; A Chuansumrit; N Sirachainan; A Ungkanont; S Jootar

2004-01-01

72

MRI evaluation of tissue iron burden in patients with ?-thalassaemia major  

Microsoft Academic Search

?-Thalassaemia major is a hereditary haemolytic anaemia that is treated with multiple blood transfusions. A major complication\\u000a of this treatment is iron overload, which leads to cell death and organ dysfunction. Chelation therapy, used for iron elimination,\\u000a requires effective monitoring of the body burden of iron, for which serum ferritin levels and liver iron content measured\\u000a in liver biopsies are

Maria I. Argyropoulou; Loukas Astrakas

2007-01-01

73

Unrelated cord blood transplantation for thalassaemia: a single-institution experience of 35 patients  

Microsoft Academic Search

Our study was designed to prospectively determine whether or not unrelated cord blood transplantation (CBT) can produce outcomes comparable to related donor transplantation for children with ?-thalassaemia. In 35 patients, 40 transplants were performed between October 2003 and September 2009. HLA matching at enrolment was 6\\/6 (n=8), 5\\/6 (n=16), 4\\/6 (n=27), or 3\\/6 (n=1) by low-resolution HLA-A, -B, and high-resolution

T-H Jaing; I-J Hung; C-P Yang; S-H Chen; H-T Chung; P-K Tsay; Y-C Wen

2012-01-01

74

Human Traits  

NSDL National Science Digital Library

In this activity, learners investigate variations in human traits. This allows learners' natural curiosity about their identity to draw them into the study of heredity. Learners can investigate traits such as earlobe attachment, tongue rolling, hair and eye color, and hair texture. Through these traits, learners get an introduction to different inheritance patterns such as simple and incomplete dominance. Activity is usually done over multiple days to give learners time to survey people about their traits.

Salter, Irene

2012-06-26

75

Systolic and diastolic function in middle aged patients with sickle ss thalassaemia. An echocardiographic study  

PubMed Central

Objective: To evaluate the right and left ventricular systolic and diastolic function in middle aged patients with sickle ß thalassaemia. Methods: Forty three patients with sickle ß thalassaemia were recruited for echocardiographic study while 55 controls, matched for age and sex, served as the control group. Parameters measured included: dimensions and wall thickness of left (LV) and right (RV) ventricle and left atrium, LV mass, and cardiac index. LV and RV contractility variables—ejection fraction, circumferential fibre shortening velocity, end systolic stress, end systolic stress/volume index ratio, mitral and tricuspid annulus systolic excursion, and Tei index—were also calculated. The study also evaluated parameters of RV and LV diastolic function including early and late atrioventricular flow velocities (E and A wave respectively), E/A ratio, deceleration time (DT), isovolumic relaxation time (IVRT) as well as pulmonary and hepatic veins systolic to diastolic (S/D) ratio. Results: Chamber enlargement, greater LV mass index, cardiac index, and RV wall thickness were found in the anaemic group compared with controls. The LV and RV contractility variables of the patients were similar to controls. Conversely the LV and RV Tei index was significantly greater in the patient group. Diastolic dysfunction was present in the anaemic patients resulting from the increased LV and RV A-wave, the longer LVIVRT, RVIVRT, and RVDT, as well as the higher hepatic and pulmonary veins S/D ratio. Conclusions: The results show that in middle aged patients with sickle ß thalassaemia the diastolic function is abnormal in both ventricles but still more in RV, whereas the systolic function remains unchanged.

Moyssakis, I; Tzanetea, R; Tsaftaridis, P; Rombos, I; Papadopoulos, D; Kalotychou, V; Aessopos, A

2005-01-01

76

Flattening Traits  

Microsoft Academic Search

Traits are fine-grained components that can be used to compose classes, while avoiding many of the problems of multiple inheritance and mixin-based approaches. Since most implementations of traits have focused on dynamically-typed languages, the question naturally arises, how can one best introduce traits to statically-typed languages, like Java and C#? In this paper we argue that the flattening property of

Oscar Nierstrasz; Stéphane Ducasse; Nathanael Schärli

2006-01-01

77

Preimplantation genetic diagnosis for ?-thalassaemia using sequencing of single cell PCR products to detect mutations and polymorphic loci  

Microsoft Academic Search

In order to carry out preimplantation genetic diagnosis (PGD) for ?-thalassaemia, we have applied direct sequencing of single cell PCR products to detect mutations and polymorphic loci within the ?-globin gene. Conventional duplex PCR was used to amplify two regions of the ?-globin gene with an amplification efficiency of 79% for blastomeres. Sequencing data were obtained for 100% of amplified

Nicole D. Hussey; Tenielle Davis; Jenny R. Hall; Michael F. Barry; Rogan Draper; Robert J. Norman; Zbigniew Rudzki

2002-01-01

78

Patterns of bone diseases in transfusion-dependent homozygous thalassaemia major: predominance of osteoporosis and desferrioxamine-induced bone dysplasia  

Microsoft Academic Search

Objective: To study the radiographic skeletal changes in transfusion-dependent homozygous #-thalassaemia. Materials and methods: This was a retrospective review of radiographs of 41 homozygous #-thalassaemic patients over 3 years. These included 55 left hand radiographs for bone age, 37 chest radiographs, 7 scanograms of lower limbs, 8 knee radiographs and 3 skull radiographs. The radiographs were evaluated for the skeletal

Yu-Leung Chan; Lai-Man Pang; Ki-Wai Chik; Jack C. Cheng; Chi-Kong Li

2002-01-01

79

The role of the Thalassaemia International Federation in health professionals' education.  

PubMed

The Thalassaemia International Federation (TIF) was established in 1986. The Federation has two important objectives: 1. To promote the continued control of thalassaemia major in countries with existing policies aimed at control, and 2. To support the establishment of policies of control in every affected country of the world. Over the years TIF has: - Held workshops and seminars attended by over 7,000 from 35 countries - Organized 11 International Conferences attended by 5,150 from 62 countries - Organized field trips/delegation visits in 42 countries - Prepared, published and distributed 70,000 books to 96 countries - Trained physicians and scientists from medical centres in the UK, US, Italy, Greece and Cyprus - Initiated and co-ordinated projects and clinical studies overseen by international experts in over 50 countries. - Established a vast network of scientific collaborators from every corner of the world, and - Has promoted close and productive collaborations with major health organizations. One of the most important projects that TIF has conducted was a multi-centre study on endocrine complications in the different affected regions of the world. It is hopeful that through the analysis of data already obtained and expected, other projects related to blood transfusion therapy, iron chelation and chronic hepatitis could be organized. PMID:16462703

Eleftheriou, Androulla

2004-12-01

80

Quantification of myocardial iron deposition by two-dimensional speckle tracking in patients with ?-thalassaemia major and Blackfan–Diamond anaemia  

Microsoft Academic Search

BackgroundCardiac disease related to transfusional iron overload is the leading cause of death in patients with ?-thalassaemia major. Early myocardial iron deposition predates decreased left ventricular dysfunction and currently is best assessed by cardiac magnetic resonance.MethodsEchocardiographic speckle tracking-derived myocardial mechanics were compared with cardiac MRI T2 star (T2*) calculations in 45 chronically transfused patients with ?-thalassaemia major or Diamond–Blackfan anaemia

P Garceau; E T Nguyen; S Carasso; H Ross; J Pendergrast; G Moravsky; B Bruchal-Garbicz; H Rakowski

2011-01-01

81

Cardiac complications and diabetes in thalassaemia major: a large historical multicentre study.  

PubMed

The relationship between diabetes mellitus (DM) and cardiac complications has never been systematically studied in thalassaemia major (TM). We evaluated a large retrospective historical cohort of TM to determine whether DM is associated with a higher risk of heart complications. We compared 86 TM patients affected by DM with 709 TM patients without DM consecutively included in the Myocardial Iron Overload in Thalassaemia database where clinical/instrumental data are recorded from birth to the first cardiovascular magnetic resonance (CMR) exam. All of the cardiac events considered were developed after the DM diagnosis. In DM patients versus non-DM patients we found a significantly higher frequency of cardiac complications (46.5% vs. 16.9%, P < 0.0001), heart failure (HF) (30.2% vs. 11.7%, P < 0.0001), hyperkinetic arrhythmias (18.6% vs. 5.5%, P < 0.0001) and myocardial fibrosis assessed by late gadolinium enhancement (29.9% vs. 18.4%, P = 0.008). TM patients with DM had a significantly higher risk of cardiac complications [odds ratio (OR) 2.84, P < 0.0001], HF (OR 2.32, P = 0.003), hyperkinetic arrhythmias (OR 2.21, P = 0.023) and myocardial fibrosis (OR 1.91, P = 0.021), also adjusting for the absence of myocardial iron overload assessed by T2* CMR and for the covariates (age and/or endocrine co-morbidity). In conclusion, DM significantly increases the risk for cardiac complications, HF, hyperkinetic arrhythmias and myocardial fibrosis in TM patients. PMID:24111905

Pepe, Alessia; Meloni, Antonella; Rossi, Giuseppe; Caruso, Vincenzo; Cuccia, Liana; Spasiano, Anna; Gerardi, Calogera; Zuccarelli, Angelo; D'Ascola, Domenico G; Grimaldi, Salvatore; Santodirocco, Michele; Campisi, Saveria; Lai, Maria E; Piraino, Basilia; Chiodi, Elisabetta; Ascioti, Claudio; Gulino, Letizia; Positano, Vincenzo; Lombardi, Massimo; Gamberini, Maria R

2013-11-01

82

Effectiveness of earlier antenatal screening for sickle cell disease and thalassaemia in primary care: cluster randomised trial  

Microsoft Academic Search

Objective To evaluate the effectiveness of offering antenatal screening for sickle cell disease and thalassaemia in primary care as a way of facilitating earlier uptake of screening.Design Partial factorial cluster randomised controlled trial.Setting 25 UK general practices from deprived inner city areas.Participants Anonymised data on all pregnant women attending participating practices during a six month period before randomisation and a

Elizabeth Dormandy; Martin Gulliford; Stirling Bryan; Tracy E Roberts; Michael Calnan; Karl Atkin; Jonathan Karnon; Jane Logan; Fred Kavalier; Hilary J Harris; Tracey A Johnston; Elizabeth N Anionwu; Vicki Tsianakas; Patricia Jones; Theresa M Marteau

2010-01-01

83

Frequency and origin of haplotypes associated with the beta-globin gene cluster in individuals with trait and sickle cell anemia in the Atlantic and Pacific coastal regions of Colombia.  

PubMed

Sickle cell anemia is a genetic disease with high prevalence in people of African descent. There are five typical haplotypes associated with this disease and the haplotypes associated with the beta-globin gene cluster have been used to establish the origin of African-descendant people in America. In this work, we determined the frequency and the origin of haplotypes associated with hemoglobin S in a sample of individuals with sickle cell anemia (HbSS) and sickle cell hemoglobin trait (HbAS) in coastal regions of Colombia. Blood samples from 71 HbAS and 79 HbSS individuals were obtained. Haplotypes were determined based on the presence of variable restriction sites within the ?-globin gene cluster. On the Pacific coast of Colombia the most frequent haplotype was Benin, while on the Atlantic coast Bantu was marginally higher than Benin. Eight atypical haplotypes were observed on both coasts, being more diverse in the Atlantic than in the Pacific region. These results suggest a differential settlement of the coasts, dependent on where slaves were brought from, either from the Gulf of Guinea or from Angola, where the haplotype distributions are similar. Atypical haplotypes probably originated from point mutations that lost or gained a restriction site and/or by recombination events. PMID:24385850

Fong, Cristian; Lizarralde-Iragorri, María Alejandra; Rojas-Gallardo, Diana; Barreto, Guillermo

2013-12-01

84

Frequency and origin of haplotypes associated with the beta-globin gene cluster in individuals with trait and sickle cell anemia in the Atlantic and Pacific coastal regions of Colombia  

PubMed Central

Sickle cell anemia is a genetic disease with high prevalence in people of African descent. There are five typical haplotypes associated with this disease and the haplotypes associated with the beta-globin gene cluster have been used to establish the origin of African-descendant people in America. In this work, we determined the frequency and the origin of haplotypes associated with hemoglobin S in a sample of individuals with sickle cell anemia (HbSS) and sickle cell hemoglobin trait (HbAS) in coastal regions of Colombia. Blood samples from 71 HbAS and 79 HbSS individuals were obtained. Haplotypes were determined based on the presence of variable restriction sites within the ?-globin gene cluster. On the Pacific coast of Colombia the most frequent haplotype was Benin, while on the Atlantic coast Bantu was marginally higher than Benin. Eight atypical haplotypes were observed on both coasts, being more diverse in the Atlantic than in the Pacific region. These results suggest a differential settlement of the coasts, dependent on where slaves were brought from, either from the Gulf of Guinea or from Angola, where the haplotype distributions are similar. Atypical haplotypes probably originated from point mutations that lost or gained a restriction site and/or by recombination events.

Fong, Cristian; Lizarralde-Iragorri, Maria Alejandra; Rojas-Gallardo, Diana; Barreto, Guillermo

2013-01-01

85

Traits Bingo  

NSDL National Science Digital Library

In this game, learners cross off or color bingo squares in response to questions about their traits. This activity is designed to be used as a review following a unit on genetics, but can be used independently. Bingo game cards and questions featured in this activity are provided in English and Spanish. This resource also contains information about PTC safety.

Malone, Molly; Starr, Harmony

2006-01-01

86

Attitudes towards prenatal diagnosis and abortion in a multi-ethnic country: a survey among parents of children with thalassaemia major in Malaysia.  

PubMed

Thalassaemia is a public health problem in multi-ethnic Malaysia which mainly affects the Malays, Kadazan-Dusuns and Chinese. This study, the first in Malaysia, aims to evaluate the acceptability of prenatal diagnosis and abortion among Malaysian parents who have a child or children with thalassaemia major and the socio-demographic factors affecting their decision-making. A pre-structured questionnaire was distributed to parents of children with thalassaemia major. Response rate for completed surveys was 99.1 %. Out of 116 respondents, the majority (83/71.6 %) were agreeable for prenatal diagnosis, but only 33 (28.4 %) agreed to both prenatal diagnosis followed by termination of affected foetuses. Of parents who declined abortion, 77.6 % cited religious restriction as the main reason, and their religious background was a significant factor (p?=?0.001), with 73.4 % of Muslim participants against termination compared to 25 % of Christians and 13.3 % of Buddhists. Gender, age, highest education level and number of children affected with thalassaemia were non-significant predictors in decision-making regarding abortion. The acceptance rate for termination of foetuses with thalassaemia major in Malaysia is low especially among the Muslims due to religious non-permissibility. Therefore, scholarly deliberations among the Malaysian Muslim religious authorities that result in a supportive stance in this issue may contribute to a more successful prevention programme. PMID:23296641

Ngim, Chin Fang; Lai, Nai Ming; Ibrahim, Hishamshah; Ratnasingam, Vanassa

2013-04-01

87

Screening for sickle cell and thalassaemia in primary care: a cost-effectiveness study  

PubMed Central

Background Haemoglobinopathies, including sickle cell disease and thalassaemia (SCT), are inherited disorders of haemoglobin. Antenatal screening for SCT rarely occurs before 10 weeks of pregnancy. Aim To explore the cost-effectiveness of offering SCT screening in a primary care setting, during the pregnancy confirmation visit. Design and setting A model-based cost-effectiveness analysis of inner-city areas with a high proportion of residents from ethnic minority groups. Method Comparison was made of three SCT screening approaches: ‘primary care parallel’ (primary care screening with test offered to mother and father together); ‘primary care sequential (primary care screening with test offered to the mother and then the father only if the mother is a carrier); and ‘midwife care’ (sequential screening at the first midwife consultation). The model was populated with data from the SHIFT (Screening for Haemoglobinopathies In First Trimester) trial and other sources. Results Compared to midwife care, primary care sequential had a higher NHS cost of £34 000 per 10 000 pregnancies (95% confidence interval [CI] = £15 000 to £51 000) and an increase of 2623 women screened (95% CI: 1359 to 4495), giving a cost per additional woman screened by 10 weeks of £13. Primary care parallel was dominated by primary care sequential, with both higher costs and fewer women screened. Conclusion The policy judgement is whether an earlier opportunity for informed reproductive choice has a value of at least £13. Further work is required to understand the value attached to earlier informed reproductive choices.

Bryan, Stirling; Dormandy, Elizabeth; Roberts, Tracy; Ades, Anthony; Barton, Pelham; Juarez-Garcia, Ariadna; Andronis, Lazaros; Karnon, Jonathan; Marteau, Theresa M

2011-01-01

88

Personality As Traits  

Microsoft Academic Search

Personality traits have been challenged as unimportant determinants of behavior, but evidence suggests that traits may carry as much variance as experimental manipulations. Asking whether traits or manipulations control more variance is useless because researchers can plan paradigms that favor one or the other. When traits and manipulations complement each other, there are several major kinds of interaction. The trait–manipulation

Arnold H. Buss

1989-01-01

89

Sickle Cell Trait  

MedlinePLUS

... Añadir en... Favorites Delicious Digg Google Bookmarks Sickle Cell Trait People who inherit one sickle cell gene ... the trait on to their children. How Sickle Cell Trait is Inherited If both parents have SCT, ...

90

Detection of ?-globin Gene Mutations Among ?-thalassaemia Carriers and Patients in Malaysia: Application of Multiplex Amplification Refractory Mutation System-Polymerase Chain Reaction  

PubMed Central

Background: ?-thalassaemia is one of the most common single-gene disorders worldwide. Each ethnic population has its own common mutations, accounting for the majority of cases, with a small number of mutations for the rarer alleles. Due to the heterogeneity of ?-thalassaemia and the multi-ethnicity of Malaysians, molecular diagnostics may be expensive and time consuming. Methods: A simple polymerase chain reaction (PCR) approach involving a multiplex amplification refractory mutation system (MARMS) and one amplification refractory mutation system (ARMS), consisting of 20 ?-globin gene mutations, were designed and employed to investigate ?-thalassaemia patients and carriers. Results: Out of 169 carriers tested with the MARMS, Cd 41/42 (–TTCT), Cd 26 (A–G) HbE, IVS 1–1 (G–T), and IVS 1–5 (G–C) were the most common mutations, accounting for 78.1%. Among the Malays, Cd 26 (A–G) HbE, Cd 41/42 (–TTCT), IVS 1–1 (G–T), and IVS 1–5 (G–C) were the most common mutations, accounting for 81.4%, whereas Cd 41/42 (–TTCT) and IVS 2–654 (C–T) were most common among the Chinese (79.1%). Conclusion: We propose the use of this cheap, easy to interpret, and simple system for the molecular diagnostics of ?-thalassaemia among Malaysians at the Institute for Medical Research (IMR).

Hassan, Syahzuwan; Ahmad, Rahimah; Zakaria, Zubaidah; Zulkafli, Zefarina; Abdullah, Wan Zaidah

2013-01-01

91

Predictors of bone disease in Egyptian prepubertal children with ?-thalassaemia major  

PubMed Central

Introduction Thalassaemic osteopathy is a multifactorial disorder and limited information exists about bone accrual and bone mineral density (BMD) in prepubertal thalassaemic children. The study aimed to investigate some potential genetic and biochemical bone markers as possible early predictors of BMD variations in children with ?-thalassaemia major (TM) before puberty. Material and methods Thirt-one prepubertal children with ?-TM, and 43 matched controls were subjected to BMD assessment by dual energy X-ray absorptiometry (DEXA). Vitamin D receptor (VDR) gene polymorphisms (Bsm1, Fok1) and the biochemical bone markers serum osteocalcin and propeptide I procollagen (CPIP) and urinary deoxypyridinoline (DPD) excretion were assessed. Results Bone mineral density was reduced in 25% of thalassaemics at the spine and 15.4% at the hip region. Significantly higher levels of urinary DPD and lower serum osteocalcin and CPIP levels were found in the studied thalassaemic children compared to controls (p < 0.001). A significant negative correlation was present between BMD in spine and hip and the patients’ age (r = ?0.6367, p = 0.0002 and r = ?0.616, p = 0.00079, respectively). There was a significant reduction in BMD in males compared to females. Reduced BMD was more frequent in male patients with genotypes bb and Ff but not in females. Bone mineral density was not related to the studied biochemical bone markers, mean pre-transfusion haemoglobin or serum ferritin. Conclusions Routine BMD screening with DEXA is proposed to be a sensitive predictor for early bone changes, particularly at the lumbar spine. DR gene polymorphisms of Bsm1 and Fok1 polymorphisms may be determinants of BMD in Egyptian prepubertal male thalassemics

Tantawy, Azza A.G.; El-Bostany, Eman A.; Matter, Randa M.; Ragab, Shadia

2010-01-01

92

Effects of combined deferiprone with deferoxamine on right ventricular function in thalassaemia major  

PubMed Central

Background Combination therapy with deferoxamine and oral deferiprone is superior to deferoxamine alone in removing cardiac iron and improving left ventricular ejection fraction (LVEF). The right ventricle (RV) is also affected by the toxic effects of iron and may cause additional cardiovascular perturbation. We assessed the effects of combination therapy on the RV in thalassaemia major (TM) using cardiovascular magnetic resonance (CMR). Methods We retrieved imaging data from 2 treatment trials and re-analyzed the data for the RV responses: Trial 1 was a randomized controlled trial (RCT) of 65 TM patients with mild-moderate cardiac siderosis receiving combination therapy or deferoxamine with placebo; Trial 2 was an open label longitudinal trial assessing combination therapy in 15 TM patients with severe iron loading. Results In the RCT, combination therapy with deferoxamine and deferiprone was superior to deferoxamine alone for improving RVEF (3.6 vs 0.7%, p = 0.02). The increase in RVEF was greater with lower baseline T2* 8-12 ms (4.7 vs 0.5%, p = 0.01) than with T2* 12-20 ms (2.2 vs 0.8%, p = 0.47). In patients with severe cardiac siderosis, substantial improvement in RVEF was seen with open-label combination therapy (10.5% ± 5.6%, p < 0.01). Conclusions In the RCT of mild to moderate cardiac iron loading, combination treatment improved RV function significantly more than deferoxamine alone. Combination treatment also improved RV function in severe cardiac siderosis. Therefore adding deferiprone to deferoxamine has beneficial effects on both RV and LV function in TM patients with cardiac siderosis.

2012-01-01

93

Growth and pubertal development in transfusion-dependent children and adolescents with thalassaemia major and sickle cell disease: a comparative study.  

PubMed

Despite regular blood transfusion and desferrioxamine treatment, growth impairment and pubertal delay are commonly seen in children and adolescents with transfusion-dependent thalassaemia and sickle cell disease (SCD). We evaluated growth parameters and sexual maturation in a large cohort of children and adolescents with SCD (n = 110) and thalassaemia (n = 72) receiving nearly the same protocol of transfusion and chelation, and compared them with those for 200 normal age-matched children, 30 children with constitutional delay of growth (CSS), and 25 children with growth hormone deficiency (GHD). Before transfusion, haemoglobin concentration had not been less than 9 g/dl in the past 7 years; desferrioxamine was administered for 7-10 years, including by the intramuscular and subcutaneous routes, three times or more per week. The height standard deviation score (HtSDS), growth velocity (GV) (cm/yr), and growth velocity standard deviation score (GVDSD) of children and adolescents with thalassaemia and SCD were significantly decreased compared to normal children (p < 0.01). Forty-nine per cent of thalassaemic patients and 27 per cent of patients with SCD had HtSDS less than -2, and 83 per cent of thalassaemic patients and 67 per cent of SCD patients had HtSDS less than -1. Fifty-six per cent of thalassaemic children and 51 per cent of children with SCD had GVSDS less than -1. The GV of thalassaemic children was significantly slower than that for children with SCD. Children with thalassaemia and SCD had HtSDS and GVSDS comparable to those for children with CSS but higher than those for patients with GHD. Serum ferritin concentration was correlated significantly with the linear GV in all patients (r = 0.45, p < 0.001). The bone age delay did not differ among the three groups with thalassaemia, SCD and CSS, but the delay was significant in the group with GHD. The mid-arm circumference was significantly smaller in children with thalassaemia and SCD than in normal children. The triceps skin-fold thickness of patients with SCD was significantly decreased compared to thalassaemic and normal children. The upper/lower segment ratio was significantly lower in thalassaemic and SCD patients than in normal children. In thalassaemic patients between the ages of 13 and 21 years a complete lack of pubescent changes was present in 73 per cent of boys and 42 per cent of girls. Seventy-four per cent of the thalassaemic girls had primary amenorrhoea. Girls with SCD aged between 13 and 21 years had markedly delayed breast development and menarche. Twenty-five per cent of boys with SCD above the age of 14 years had absence of testicular development. Males with thalassaemia and SCD who had spontaneous testicular development had significantly smaller testicular volume than did normal controls. Short children with thalassaemia and SCD had significantly decreased serum insulin-like growth factor 1 (IGF-1) concentrations compared to children with CSS. Collectively, these data confirm the high prevalence of impaired growth and pubertal delay/failure in children and adolescents with thalassaemia and SCD. The aetiology of impaired growth includes the contributions of lack of pubertal growth spurt due to delayed/absent puberty, decreased synthesis of IGF-1 which might be secondary to a disturbed GH-IGF-1 axis and/or under nutrition, probably due to the hypermetabolic status of these children. It is suggested that newer protocols of treatment, in addition to optimization of transfusion and chelation requirements, should increase the caloric intake of these patients and properly manage their pubertal delay-failure in order to improve their adult height. PMID:10191589

Soliman, A T; elZalabany, M; Amer, M; Ansari, B M

1999-02-01

94

Bone disease in thalassaemia major: recent advances in pathogenesis and clinical aspects.  

PubMed

Bone is a dynamic organ, constantly changing metabolically and being remodelled through the balanced activity of osteoclast and osteoblast on trabecular surfaces. Osteoporosis represents a continuum, in which multiple pathogenic mechanisms converge to cause loss of bone mass and deterioration of microarchitecture of skeletal structure. In thalassaemia major (TM), progressive 'aging' of bone starts in early childhood, through the gradual development of an imbalance between augmented osteoclastic resorption and insufficient osteoblastic bone formation. Chronic anemia, iron toxicity and endocrine complications, via a complex mechanism, lead to alterations in the RANK/RANKL/OPG system in favor of increased osteoclastic activity and enhanced osteoblastic dysfunction. Hypogonadotrophic hypogonadism and delayed puberty are the most common endocrine complications in patients with TM; they also contribute to osteopenia and osteoporosis, which is present in more than 50% of patients. There are gender differences not only in the prevalence but also in the severity of the osteoporosis syndrome. The anabolic effects of GH and IGF-1 on bone formation are important for the acquisition of bone mass, mainly during childhood and puberty. In TM, GH secretory dysfunction is common and contributes to osteopenia and osteoporosis, along with other endocrinopathies such as hypoparathyroidism and vitamin D deficiency, hypothyroidism and diabetes. Prevention is with no doubt the first step in the management of osteoporosis in TM, with the final goal of preventing bone loss and fractures. The management of patients with TM should start as early as birth in order to minimize the disease complications. Induction of puberty at a proper age with estrogens in girls and testosterone in boys and later treatment of hypogonadism with HRT are vital steps in the prevention of bone disease in TM. Biphosphonates, the well known medication for osteoporosis, have been tried in the treatment of TM-osteoporosis with promising outcomes. Since the origin of bone disease in TM is multifactorial and some of the underlying pathogenic mechanisms are still unclear, further research in this field is needed, which will allow the design of optimal therapeutic measures. PMID:21705982

Skordis, Nicos; Toumba, Meropi

2011-03-01

95

A case of selective mutism in an 8-year-old girl with thalassaemia major after bone marrow transplantation.  

PubMed

Selective mutism is rare with a prevalence below 1% in the general population, but a higher prevalence in populations at risk (children with speech retardation, migration). Evidence for treatment strategies is hardly available. This case report provides information on the treatment of selective mutism in an 8-year-old girl with preexisting thalassaemia major. As medications she received penicillin prophylaxis (500000 IE/d) and deferasirox (Exjade; 20-25mg/kg/d), an iron chelator. The preexisting somatic disease and treatment complicated the treatment, as there are no data about pharmacological combination therapy. Psychotherapy in day treatment, supported by the use of the SSRI fluoxetine (10?mg), led to a decrease in the selective mutism score from 33 to 12 points, GAF improved by 21 points. Mean levels of fluoxetine plus norfluoxetine were 287.8?ng/ml without significant level fluctuations. PMID:21989599

Plener, P L; Gatz, S A; Schuetz, C; Ludolph, A G; Kölch, M

2012-01-01

96

Family Traits and Traditions  

NSDL National Science Digital Library

In this activity, learners play a matching game with their families to discover common inherited traits and traditions. Learners distinguish between inherited traits and learned traditions. This genetics activity is available in English and Spanish.

Utah, University O.

2006-01-01

97

Left ventricular remodelling, and systolic and diastolic function in young adults with ? thalassaemia major: a Doppler echocardiographic assessment and correlation with haematological data  

PubMed Central

Objective: To evaluate left ventricular morphology and function in a large population of patients with ? thalassaemia. Design: Echo Doppler assessment of left ventricular function and correlation of cardiovascular data with haematological data. Setting: Thalassaemia unit in a tertiary referral centre. Patients: 197 young adults with ? thalassaemia, following an adequate transfusional and chelation treatment regimen, without clinical signs of cardiopulmonary involvement. The control group consisted of 213 healthy subjects. Results: Left ventricular volumes, mass index, and mass/volume ratio were increased. Diastolic and systolic shapes were different, the left ventricle maintaining an ellipsoidal shape. The ejection fraction was reduced, and was < 50% in 33 patients. Stroke volume and cardiac index were increased, and systemic vascular resistance was decreased. Fractional shortening and mean velocity of circumferential shortening were decreased. Meridional end systolic and peak systolic stress were increased, as was circumferential end systolic stress. The contractile state was reduced while the functional preload index did not differ. Left ventricular diastolic function, evaluated from the mitral inflow, showed a slightly prolonged isovolumic relaxation time, increased flow velocity integrals, and an increased E/A ratio. Among the haematological data, only serum ferritin showed a weak negative correlation with left ventricular ejection fraction. The patients with the highest serum ferritin (> 2500 ng/ml) had the lowest ejection fraction. Conclusions: Patients with ? thalassaemia on an adequate transfusion and chelation treatment regimen show abnormal left ventricular remodelling with increased volumes, mass, and mass/volume ratio. Systolic chamber function and contractile state are reduced, with a slightly increased afterload. These findings seem mainly to be related to the increased cardiac output caused by chronic anaemia. Left ventricular performance is better preserved when chelation treatment is adjusted to maintain the serum ferritin concentration at < 1000 ng/ml.

Bosi, G; Crepaz, R; Gamberini, M R; Fortini, M; Scarcia, S; Bonsante, E; Pitscheider, W; Vaccari, M

2003-01-01

98

Haptoglobin, alpha-thalassaemia and glucose-6-phosphate dehydrogenase polymorphisms and risk of abnormal transcranial Doppler among patients with sickle cell anaemia in Tanzania.  

PubMed

Transcranial Doppler ultrasonography measures cerebral blood flow velocity (CBFv) of basal intracranial vessels and is used clinically to detect stroke risk in children with sickle cell anaemia (SCA). Co-inheritance in SCA of alpha-thalassaemia and glucose-6-phosphate dehydrogenase (G6PD) polymorphisms is reported to associate with high CBFv and/or risk of stroke. The effect of a common functional polymorphism of haptoglobin (HP) is unknown. We investigated the effect of co-inheritance of these polymorphisms on CBFv in 601 stroke-free Tanzanian SCA patients aged <24 years. Homozygosity for alpha-thalassaemia 3·7 deletion was significantly associated with reduced mean CBFv compared to wild-type (?-coefficient -16·1 cm/s, P = 0·002) adjusted for age and survey year. Inheritance of 1 or 2 alpha-thalassaemia deletions was associated with decreased risk of abnormally high CBFv, compared to published data from Kenyan healthy control children (Relative risk ratio [RRR] = 0·53 [95% confidence interval (CI):0·35-0·8] & RRR = 0·43 [95% CI:0·23-0·78]), and reduced risk of abnormally low CBFv for 1 deletion only (RRR = 0·38 [95% CI:0·17-0·83]). No effects were observed for G6PD or HP polymorphisms. This is the first report of the effects of co-inheritance of common polymorphisms, including the HP polymorphism, on CBFv in SCA patients resident in Africa and confirms the importance of alpha-thalassaemia in reducing risk of abnormal CBFv. PMID:24666344

Cox, Sharon E; Makani, Julie; Soka, Deogratias; L'Esperence, Veline S; Kija, Edward; Dominguez-Salas, Paula; Newton, Charles R J; Birch, Anthony A; Prentice, Andrew M; Kirkham, Fenella J

2014-06-01

99

A Non-Invasive Technique which Demonstrates the Iron in the Buccal Mucosa of Sickle Cell Anaemia and Thalassaemia Patients who Undergo Repeated Blood Transfusions  

PubMed Central

Background: Iron is vital for all the living organisms. However, excess iron is hazardous because it produces free radical formation. Therefore, the iron absorption is carefully regulated to maintain an equilibrium between the absorption and the body loss of iron. Considering the lack of specific excretory pathways for iron in humans, an iron overload in the tissues is frequently encountered. It can be precipitated by a variety of conditions such as increased iron absorption, as is seen in haemochromatosis or a frequent parenteral iron administration, as is seen in thalassaemia and sickle cell anaemia patients (a transfusional overload). Objectives: To demonstrate the iron overload at an early stage by oral exfoliative cytology in the oral mucosal cells of thalassaemia and sickle cell anaemia patients and to compare the presence of iron in the exfoliated oral epithelial cells with that of the serum ferritin levels in those patients. Materials and Methods: The present study comprised of 40 ?– thalassaemia major and 20 sickle cell anaemia patients who were undergoing repeated blood transfusions of a minimum of 15/more, along with 60 clinically healthy individuals. Scrapings were obtained from the buccal mucosa and they were smeared onto glass slides. Then the slides were stained with a Perl’s Prussian staining kit and they were examined under a light microscope. Results: 72.5% of the thalassaemia patients and 35% of the sickle cell anaemia patients revealed a positivity for the Perl’s Prussian blue reaction and none of the controls showed this positivity. It was also observed that as the serum ferritin levels increased, the iron overload in the oral mucosal cells of the thalassaemia patients also increased, which was not statistically significant, whereas it was statistically significant in case of the sickle cell anemia patients. Conclusion: Since the exfoliative cytology is a simple, painless, non-invasive and a quick procedure to perform, a lot of research should be carried out on the correlation of the Perl’s Prussian blue reaction to the serum ferritin levels.

Chittamsetty, Harika; Sekhar, M.S. Muni; Ahmed, Syed Afroz; Suri, Charu; Palla, Sridevi; Venkatesh, S. Muni; Tanveer, Shahela

2013-01-01

100

Offering antenatal sickle cell and thalassaemia screening to pregnant women in primary care: a qualitative study of GPs' experiences  

PubMed Central

Background Timely antenatal sickle cell and thalassaemia (SC&T) screening for all women in primary care facilitates informed decision making, but little is known about its implementation. Aim To assess the feasibility of offering antenatal SC&T screening in primary care at the time of pregnancy confirmation. Design of study Cross-sectional investigation of GPs' beliefs and perceived practices. Method Informal face-to-face interviews with 34 GPs. Setting Seventeen inner-city general practices that offered antenatal SC&T screening as part of a trial. Results GPs identified both barriers and facilitators. Organisational barriers included inflexible appointment systems and lack of interpreters for women whose first language was not English. Professional barriers included concerns about raising possible adverse outcomes in the first antenatal visit. Perceived patient barriers included women's lack of awareness of SC&T. Hence, GPs presented the test to women as routine, rather than as a choice. Organisational facilitators included simple and flexible systems for offering screening in primary care, practice cohesion, and training. Professional facilitators included positive attitudes to screening for SC&T. Perceived patient facilitators included women's desire for healthy children. Conclusion GPs reported barriers, as well as facilitators, to successful implementation but the extent to which screening could be regarded as offering ‘informed choice’ remained fundamental when making sense of these barriers and facilitators.

Tsianakas, Vicki; Calnan, Michael; Atkin, Karl; Dormandy, Elizabeth; Marteau, Theresa M

2010-01-01

101

Emotional impact in ?-thalassaemia major children following cognitive-behavioural family therapy and quality of life of caregiving mothers  

PubMed Central

Background Cognitive-Behavioural Family Therapy (CBFT) can be an effective psychological approach for children with ?-thalassaemia major, increasing compliance to treatment, lessening the emotional burden of disease, and improving the quality of life of caregivers. Design and methods Twenty-eight ?-thalassaemic major children that followed CBFT for one year were compared with twenty-eight age-matched healthy children, focusing particularly on behavioural, mood, and temperamental characteristics as well as compliance with chelation, assessed using the Child Behaviour Checklist (CBCL), Children's Depression Inventory (CDI), Multidimensional Anxiety Scale for Children (MASC), and Emotionality, Activity, Sociability and Shyness Scale (EAS). We also monitored the quality of life of caregiving mothers using the World Health Organization Quality Of Life (WHOQOL-BREF) questionnaire. Data were analysed with non-parametric standard descriptive statistics. Results 90% of ?-Thalassaemic children showed good compliance with chelation therapy; however they had significantly increased somatic complains, physical symptoms and separation panic. Moreover, temperamental assessment revealed high emotionality and poor sociability in treated thalassaemic children and in their mothers. Physical and psychological domains concerning individual's overall perception of quality of life resulted impaired in mothers of ?-thalassaemic children. Conclusion CBFT can be a valid tool to increase the compliance with chelation therapy in ?-thalassaemic children; however, treated children continue to show an important emotional burden; moreover, CBFT therapy seems not to have any positive impact on the quality of life of caregiving mothers, who may therefore need additional psychological support.

2009-01-01

102

Generations of Traits  

NSDL National Science Digital Library

In this hands-on activity students track and record the passage of colored pom-pom âtraitsâ through three generations of gingerbread people. Students observe that traits are passed from parents to offspring, and that siblings each receive a different combination of traits from their parents.

2006-01-01

103

Generalized Latent Trait Models.  

ERIC Educational Resources Information Center

Discusses a general model framework within which manifest variables with different distributions in the exponential family can be analyzed with a latent trait model. Presents a unified maximum likelihood method for estimating the parameters of the generalized latent trait model and discusses the scoring of individuals on the latent dimensions.…

Moustaki, Irini; Knott, Martin

2000-01-01

104

Impact on informed choice of offering antenatal sickle cell and thalassaemia screening in primary care: a randomized trial  

PubMed Central

Objectives Offering antenatal sickle cell and thalassaemia (SCT) screening early in pregnancy can maximize the range of post-screening choices available, however these benefits should not be obtained at the expense of informed choice.  This study examined whether offering this screening in primary care at the time of pregnancy confirmation compromises women making informed choices. Design Partial factorial, cluster randomized controlled trial. Setting 25 general practices in two socially deprived UK areas. Participants 464 pregnant women offered antenatal SCT screening. Intervention Practices were randomly allocated to offer pregnant women screening:  i) in primary care at time of pregnancy confirmation, with parallel partner testing (n = 191), ii) in primary care at time of pregnancy confirmation, with sequential partner testing (n = 158), or iii) in secondary care by midwives, with sequential partner testing (standard care, n = 115). Main outcome Informed choice – a classification based on attitudes, knowledge and test uptake. Results 91% of woman underwent screening. About a third (30.6%) made an informed choice to accept or decline screening: 34% in primary care parallel group; 23.4% in primary care sequential and 34.8% in secondary care sequential. Allowing for adjustments, rates of informed choice did not vary by intervention group: secondary care versus primary care with parallel partner testing OR 1.07 (95% CI 0.56 to 2.02); secondary care versus primary care with sequential partner testing OR 0.67 (95% CI 0.36 to 1.25).  Uninformed choices were generally attributable to poor knowledge (65%). Conclusion Offering antenatal SCT screening in primary care did not reduce the likelihood that women made informed choices. Rates of informed choice were low and could be increased by improving knowledge.

Brown, Katrina; Dormandy, Elizabeth; Reid, Erin; Gulliford, Martin; Marteau, Theresa

2011-01-01

105

Reducing Bias in CAT Trait Estimation: A Comparison of Approaches.  

ERIC Educational Resources Information Center

Extended the use of a beta prior in trait estimation to the maximum expected a posteriori (MAP) method of Bayesian estimation. This new method, essentially unbiased MAP, was compared with MAP, essentially unbiased expected a posteriori, weighted likelihood, and maximum-likelihood estimation methods. The new method significantly reduced bias in…

Wang, Tianyou; Hanson, Bradley A.; Lau, Che-Ming A.

1999-01-01

106

Anxious apprehension increases coupling of delta and beta oscillations.  

PubMed

Recent findings showing that anxiety is associated with enhanced coupling of EEG rhythms imply higher information exchange between populations of neurons associated with different oscillatory systems. In this study, influence of uncertainty on alpha-delta anticorrelation and delta-beta coupling was studied in 39 subjects (27 females) aged 19 to 30 years who also filled out the State Trait Anxiety Inventory. A measure of alpha-delta anticorrelation showed trait-like properties being uniformly higher in high trait anxiety subjects independent of experimental manipulation. Contrariwise, delta-beta coupling appeared only in anxiogenic situation both in high and low anxiety subjects. PMID:16516317

Knyazev, Gennady G; Schutter, Dennis J L G; van Honk, Jack

2006-08-01

107

Beta experiment  

NASA Technical Reports Server (NTRS)

A focused laser doppler velocimeter (LDV) system was developed for the measurement of atmospheric backscatter (beta) from aerosols at infrared wavelengths. A Doppler signal generator was used in mapping the coherent sensitive focal volume of a focused LDV system. System calibration data was analyzed during the flight test activity scheduled for the Beta system. These analyses were performed to determine the acceptability of the Beta measurement system's performance.

1982-01-01

108

A Recipe for Traits  

NSDL National Science Digital Library

In this activity, students create a "DNA recipe" for a dog to learn how variations in DNA lead to the inheritance of different traits. Strips of paper (representing DNA) are randomly selected and used to assemble a DNA molecule. Students read the DNA recipe to create a drawing of their pet and compare it with others in the class to note similarities and differences. Through this activity, students will learn that every organism requires a set of instructions for specifying its traits and heredity is the passage of these instructions from one generation to another.

2006-01-01

109

Origins of Metastatic Traits  

PubMed Central

How cancer cells acquire the competence to colonize distant organs remains a central question in cancer biology. Tumors can release large numbers of cancer cells into the circulation, but only a small proportion of these cells survive on infiltrating distant organs and even fewer form clinically meaningful metastases. During the past decade, many predictive gene signatures and specific mediators of metastasis have been identified, yet how cancer cells acquire these traits has remained obscure. Recent experimental work and high-resolution sequencing of human tissues have started to reveal the molecular and tumor evolutionary principles that underlie the emergence of metastatic traits.

Vanharanta, Sakari; Massague, Joan

2014-01-01

110

Are autistic traits autistic?  

PubMed

According to the extreme male brain theory of autism (Baron-Cohen, 2002), autistic traits would be extreme manifestations of typical male behaviours. The Auyeung et al. (2009) paper establishes a link between autistic traits and higher fetal testosterone (fT) levels in typically developing children. We argue that the construct behind this relationship needs further investigation. First, the link between fT levels and sexually dimorphic traits, that are for example, associated with empathizing and systemizing, is controversial. Likewise, describing autistic behaviours as being extreme male-like is debatable. The cerebral hemisphere laterality pattern of individuals with autism also seems to differ from the pattern typically observed in males. Moreover, the parallel that should exist, according to the fT theory, between individuals with autism and individuals with congenital adrenal hyperplasia (CAH), because of their high fT levels, is unclear. The theory implying fT levels in autism fails to account for a big part of autism, and the link between fT and normal 'autistic traits' hardly demonstrates the causal link between fT and autism. PMID:18718106

Barbeau, Elise B; Mendrek, Adrianna; Mottron, Laurent

2009-02-01

111

Relation of chelation regimes to cardiac mortality and morbidity in patients with thalassaemia major: an observational study from a large Greek Unit  

PubMed Central

Objectives: Cardiac complications because of transfusional iron overload are the main cause of death in thalassaemia major. New chelators and iron monitoring methods such as cardiac magnetic resonance (CMR) became available after the year 2000. We evaluated the impact of these new management options on cardiac mortality and morbidity. Methods: The risk of cardiac death during 1990–1999 and 2000–2008 was compared. Furthermore, after 1999, morbidity, mortality and reversal of heart failure were evaluated according to chelation regime: desferrioxamine (DFO), deferiprone (DFP) and combination therapy of DFO and DFP. We also present preliminary results for deferasirox (DFX), a new oral chelator. Results: Three hundred and fifty-four patients were included in the de novo cardiac event evaluation, while 86 were included in the improvement component. The annual risk of cardiac death in patients aged between 20–30 and 30–40 reduced from 1.52% to 0.67% and 1.87% to 0.56%, respectively, before and after the year 2000. The risk for a de novo cardiac event for DFO was 9.1 times greater than that of DFP and 23.6 than with the combination of DFP and DFO. For DFX, there was one cardiac event over 269 patient-years. The risk of cardiac death was 9.5 per 1000 patient-years for DFO, 2.5 on DFP, 1.4 on combination. In the DFX group no cardiac deaths were recorded. The odds of improvement were 8.5 times greater with DFP and 6.1 with combination therapy compared to DFO. Conclusions: The new chelation regimes, together with CMR have contributed significantly to the reduction in cardiac morbidity and mortality in patients with thalassaemia major.

Ladis, Vassilios; Chouliaras, Giorgos; Berdoukas, Vasilios; Moraitis, Panagiotis; Zannikos, Kirykos; Berdoussi, Eleni; Kattamis, Christos

2010-01-01

112

Beta Thalassemia  

MedlinePLUS

... 1 Beta thalassemia is found in people of Mediterranean, Middle Eastern, African, South Asian (Indian, Pakistani, etc.), ... is commonly found in people of African or Mediterranean ancestry, such as Africans, Italians, Greeks, Turks, and ...

113

Clusters of Conserved Beta Cell Marker Genes for Assessment of Beta Cell Phenotype  

PubMed Central

Background and Methodology The aim of this study was to establish a gene expression blueprint of pancreatic beta cells conserved from rodents to humans and to evaluate its applicability to assess shifts in the beta cell differentiated state. Genome-wide mRNA expression profiles of isolated beta cells were compared to those of a large panel of other tissue and cell types, and transcripts with beta cell-abundant and -selective expression were identified. Iteration of this analysis in mouse, rat and human tissues generated a panel of conserved beta cell biomarkers. This panel was then used to compare isolated versus laser capture microdissected beta cells, monitor adaptations of the beta cell phenotype to fasting, and retrieve possible conserved transcriptional regulators. Principal Findings A panel of 332 conserved beta cell biomarker genes was found to discriminate both isolated and laser capture microdissected beta cells from all other examined cell types. Of all conserved beta cell-markers, 15% were strongly beta cell-selective and functionally associated to hormone processing, 15% were shared with neuronal cells and associated to regulated synaptic vesicle transport and 30% with immune plus gut mucosal tissues reflecting active protein synthesis. Fasting specifically down-regulated the latter cluster, but preserved the neuronal and strongly beta cell-selective traits, indicating preserved differentiated state. Analysis of consensus binding site enrichment indicated major roles of CREB/ATF and various nutrient- or redox-regulated transcription factors in maintenance of differentiated beta cell phenotype. Conclusions Conserved beta cell marker genes contain major gene clusters defined by their beta cell selectivity or by their additional abundance in either neural cells or in immune plus gut mucosal cells. This panel can be used as a template to identify changes in the differentiated state of beta cells.

Martens, Geert A.; Jiang, Lei; Hellemans, Karine H.; Stange, Geert; Heimberg, Harry; Nielsen, Finn C.; Sand, Olivier; Van Helden, Jacques; Gorus, Frans K.; Pipeleers, Daniel G.

2011-01-01

114

Beta Section Beta: Biogeographical Patterns of Variation and Taxonomy.  

National Technical Information Service (NTIS)

Contents: Classification and taxonomy; Morphometric analysis of variation in Beta section Beta; Patterns of allozyme differentiation in Beta section Beta; Generative development and life cycles in Beta section Beta; Germination ecology of some Beta specie...

J. P. W. Letschert

1993-01-01

115

A Tree of Genetic Traits  

NSDL National Science Digital Library

Learners mark their traits for tongue rolling, PTC tasting (a harmless, bitter chemical), and earlobe attachment on tree leaf cut-outs. They then place their leaves on a large tree with branches, in which each each branch represents a different combination of traits. When completed, the tree forms a visual representation of the frequency of trait combinations within the group. Included are handouts in English and Spanish. This resource also contains information about PTC safety.

Malone, Molly; Starr, Harmony; Mitchell, April

2006-01-01

116

Effects of 12 months rec-GH therapy on bone and collagen turnover and bone mineral density in GH deficient children with thalassaemia major.  

PubMed

Children suffering from thalassaemia major are reported to have growth delay and bone alterations even when well transfused and chelated. In the present study we evaluated bone and collagen turnover (bone Gla-protein, BGP; carboxyterminal telopeptide of type I collagen, ICTP; aminoterminal propeptide of type III procollagen, PIIINP, respectively) and bone mineral density (BMD) in 5 pre-pubertal GH deficient thalassaemic children before and during rec-GH treatment (0.6 IU/kg/week). Data were compared with those recorded in an age- and sex-matched control group. Before treatment, serum BGP and ICTP levels were significantly lower (p<0.0001) in children with thalassaemia (9.3+/-0.7 ng/ml and 5.3+/-0.5 ng/ml, respectively) than in healthy controls (18.9+/-0.9 ng/ml and 14.4+/-0.6 ng/ml, respectively), while serum PIIINP levels did not significantly differ in the two groups (6.7+/-0.7 ng/ml vs 6.7+/-0.7 ng/ml). Mean lumbar BMD values of patients (0.62+/-0.05 g/cm2) were significantly lower (p<0.05) than those recorded in healthy controls (0.78+/-0.01 g/cm2), while femoral BMD values were similar in the two groups (patients: 0.70+/-0.08 g/cm2 vs controls: 0.74+/-0.01 g/cm2). One-year GH therapy significantly increased height velocity (from 2.3+/-0.2 cm/year to 6.1+/-0.4 cm/yr, p<0.0001) and IGF-I levels (from 61.6+/-15.4 to 342+/-38.5 ng/ml, p<0.005). Serum BGP (basal: 9.3+/-0.7 ng/ml, 6th month: 10.8+/-0.6 ng/ml, 12th month: 14.9+/-1.4 ng/ml), ICTP (basal: 5.3+/-0.5 ng/ml, 6th month: 7.9+/-0.8 ng/ml, 12th month: 10.9+/-1.7 ng/ml) and PIIINP levels (basal: 6.7+/-0.7 ng/ml, 6th month: 9.9+/-1.0 ng/ml, 12th month: 9.6+/-1.4 ng/ml) significantly increased (p<0.05), while no significant effects were observed on lumbar and femoral BMD values. Although the GH-induced stimulation of bone turnover markedly increased BGP (+60%) and ICTP (+105%) levels, one-year GH therapy was not sufficient to completely normalize these parameters, which remained significantly lower than in healthy controls. In conclusion, our study shows that pre-pubertal GH deficient children with thalassaemia major have reduced bone turnover (both bone formation and resorption) and lumbar BMD values, thus indicating that bone metabolism should be monitored and improved even in well-transfused patients. One-year GH treatment is able to increase, but not normalize, bone turnover, this effect being insufficient to improve BMD values. More prolonged periods of GH therapy are probably requested to positively affect both bone turnover and BMD values in GH deficient thalassaemic patients, as occurs in children and adults with GH deficiency. PMID:10908162

Sartorio, A; Conte, G; Conti, A; Masala, A; Alagna, S; Rovasio, P; Faglia, G

2000-06-01

117

An Inventory of My Traits  

NSDL National Science Digital Library

In this genetics meets math activity, learners take inventories of their own easily-observable genetic traits and compare those inventories with other learners in groups. Then, learners make data tables and bar graphs showing the most and least common traits in their group. This guide features activity sheets in English and Spanish.

Malone, Molly; Mitchell, April; Stark, Louisa; Starr, Harmony

2006-01-01

118

Dog DNA---A Recipe for Traits  

NSDL National Science Digital Library

Students will discover how DNA will "code" for traits by performing a lab activity where segments of paper DNA (genes) are picked at random, a list of traits is made, and a dog is drawn featuring its genetic traits.

Perrault, Tanya

2012-02-20

119

Delay discounting: Trait variable?  

PubMed Central

Delay discounting refers to the tendency for outcomes that are remote in time to have less value than more immediate outcomes. Steep discounting of delayed outcomes is associated with a variety of social maladies. The degree of sensitivity to delayed outcomes may be a stable and pervasive individual characteristic. In analyses of archival data, the present study found positive correlations between the degree of delay discounting for one outcome (as measured by the Area Under the Curve), and the degree of discounting for other outcomes. Along with additional evidence reviewed, these data suggest that delay discounting may be considered a personality trait. Recent research in epigenetics, neuroscience, and behavior suggests delay discounting may prove to be a beneficial target for therapeutic attempts to produce global reductions in impulsivity related to delay discounting.

Odum, Amy L.

2012-01-01

120

Beta Blockers  

PubMed Central

Infantile hemangiomas are benign vascular tumors seen in 4.5 percent of neonates and infants. While most infantile hemangiomas can be managed with active nonintervention, a subset of patients will require more aggressive management. Here the authors review the use of beta-blockers in the treatment of infantile hemangiomas, including oral, topical, and multimodal treatment options. They discuss the latest data on propranolol, including criteria for patient selection, dosing recommendations, and appropriate monitoring for side effects and efficacy. Lastly, they review indications for topical timolol treatment and the potential benefits of concomitant laser therapy.

Admani, Shehla; Feldstein, Stephanie; Gonzalez, Ernesto M.

2014-01-01

121

Psychotic traits in comedians.  

PubMed

Background The popular belief that creativity is associated with madness has increasingly become the focus of research for many psychologists and psychiatrists. However, despite being prime examples of creative thinking, comedy and humour have been largely neglected. Aims To test the hypothesis that comedians would resemble other creative individuals in showing a higher level of psychotic characteristics related to both schizophrenia and manic depression. Method A group of comedians (n = 500+) and a control sample of actors (n = 350+) completed an online questionnaire containing the short version of the Oxford-Liverpool Inventory of Feelings and Experiences (O-LIFE), with scales measuring four dimensions of psychotic traits. Scores were compared with general population norms. Results Comedians scored significantly above O-LIFE norms on all four scales. Actors also differed from the norms but on only three of the scales. Most striking was the comedians' high score on both introverted anhedonia and extraverted impulsiveness. Conclusions This unusual personality structure may help to explain the facility for comedic performance. PMID:24434072

Ando, Victoria; Claridge, Gordon; Clark, Ken

2014-05-01

122

Cognitive and affective mechanisms linking trait mindfulness to craving among individuals in addiction recovery.  

PubMed

The present study aimed to identify affective, cognitive, and conative mediators of the relation between trait mindfulness and craving in data culled from an urban sample of 165 persons (in abstinence verified by urinalysis) entering into residential treatment for substance use disorders between 2010 and 2012. Multivariate path analysis adjusting for age, gender, education level, employment status, and substance use frequency indicated that the association between the total trait mindfulness score on the Five Facet Mindfulness Questionnaire and alcohol/drug craving was statistically mediated by negative affect (measured by the PANAS, beta = -.13) and cognitive reappraisal (measured by the CERQ, beta = -.08), but not by readiness to change (measured by the URICA, beta = -.001). Implications for mindfulness-oriented treatment of persons with substance use disorders are discussed. The study's limitations are noted. PMID:24611848

Garland, Eric L; Roberts-Lewis, Amelia; Kelley, Karen; Tronnier, Christine; Hanley, Adam

2014-04-01

123

Root traits for infertile soils  

PubMed Central

Crop production is often restricted by the availability of essential mineral elements. For example, the availability of N, P, K, and S limits low-input agriculture, the phytoavailability of Fe, Zn, and Cu limits crop production on alkaline and calcareous soils, and P, Mo, Mg, Ca, and K deficiencies, together with proton, Al and Mn toxicities, limit crop production on acid soils. Since essential mineral elements are acquired by the root system, the development of crop genotypes with root traits increasing their acquisition should increase yields on infertile soils. This paper examines root traits likely to improve the acquisition of these elements and observes that, although the efficient acquisition of a particular element requires a specific set of root traits, suites of traits can be identified that benefit the acquisition of a group of mineral elements. Elements can be divided into three Groups based on common trait requirements. Group 1 comprises N, S, K, B, and P. Group 2 comprises Fe, Zn, Cu, Mn, and Ni. Group 3 contains mineral elements that rarely affect crop production. It is argued that breeding for a limited number of distinct root ideotypes, addressing particular combinations of mineral imbalances, should be pursued.

White, Philip J.; George, Timothy S.; Dupuy, Lionel X.; Karley, Alison J.; Valentine, Tracy A.; Wiesel, Lea; Wishart, Jane

2013-01-01

124

Genetic architecture of cognitive traits.  

PubMed

The last decade has seen the development of large-scale genetics studies which have advanced our understanding of the genetic architecture of many complex heritable traits. In this review, we examine what progress has been made in understanding the genetics of cognitive traits. We cover the whole spectrum of distribution in cognitive abilities, from studies that have identified single genes implicated in intellectual disabilities, through studies investigating the missing and hidden heritability of cognitive abilities in the general population, and finally to studies looking at "high intelligence" samples. PMID:24605886

Le Hellard, Stephanie; Steen, Vidar M

2014-06-01

125

Modulation of leaf economic traits and trait relationships by climate  

Microsoft Academic Search

Aim Our aim was to quantify climatic influences on key leaf traits and relationships at the global scale. This knowledge provides insight into how plants have adapted to different environmental pressures, and will lead to better calibration of future vegetation-climate models. Location The data set represents vegetation from 175 sites around the world. Methods For more than 2500 vascular plant

Ian J. Wright; J. H. C. Cornelissen; D. S. Falster; P. K. Groom; J. Gulias; Kouki Hikosaka; William Lee; Christopher H. Lusk; J. Oleksyn; N. Osada; H. Poorter; David I. Warton; Mark Westoby

2005-01-01

126

Association of dominant marker traits and metric traits in chickens.  

PubMed

This study was initiated to determine whether an allelic substitution of a dominant marker gene would identify a region close to a locus affecting expression in a metric trait. The rationale for the experiment was to utilize disequilibrium between a multiple recessive randombred Rhode Island Red (RRc) stock previously selected for quantitative trait performance and an unimproved dominant marker stock (MDM). The reporter genes in the MDM were: barring (B), silver (S), creeper (Cp), rose comb (R), double uropygial gland (U), crest (Cr), dominant white (I), frizzle (F), duplex comb (D), multiple spurs (M), polydactyly (Po), blue egg (O), pea comb (P), naked neck (Na), extended black (E), white skin (W+), muffs and beard (Mb), and feathered shanks (Fsh). Appropriate reciprocal crosses of MDM with RRc and F1 to RRc produced segregating full sibs that were evaluated for association with reporter traits. Carriers of Cr, I, and F were significantly later in sexual maturity than their recessive full sibs. The pleiotropic effects of F are believed to account for the later maturity. None of the marker traits had a significant association with egg numbers or egg weight. Birds expressing E were distinctly heavier at 8 and 32 wk. There is no obvious explanation for the significant larger size for the E phenotype. The CR-I-F phenotypes were significantly smaller at 32 wk than noncarrier full sibs. PMID:8378215

Shoffner, R N; Otis, J S; Garwood, V A

1993-08-01

127

Callous-Unemotional traits in youth from a DSM-5 trait perspective.  

PubMed

The current study investigated how the Callous-Unemotional (CU) trait specifier is empirically associated with the proposed trait system for personality pathology in DSM-5, and addressed the use of multiple raters in the assessment of CU traits and additional maladaptive traits in an adolescent community sample. Both mothers and adolescents (N = 197) participated in the present study. Results showed that CU traits are located in different parts of the personality space, and are significantly associated with four broad maladaptive trait dimensions, Negative Affect, Detachment, Antagonism, and Disinhibition. Despite moderate agreement between raters, self- and maternal-rated CU traits were related in a congruent manner with PID-5 traits, and adolescents provided incremental information in CU trait assessment above maternal ratings. The present results have clear implications for the conceptualization of CU traits within the overarching model of personality pathology, proposed in DSM-5, and partially supported the application of a multi-informant approach in CU trait assessment. PMID:24344839

Decuyper, Mieke; De Caluwé, Elien; De Clercq, Barbara; De Fruyt, Filip

2014-06-01

128

Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II)  

Microsoft Academic Search

Type II congenital dyserythropoietic anaemia (CDA-II or HEMPAS) is an autosomal recessive disorder, representing the most frequent form of congenital dyserythropoiesis. It is characterised by normocytic anaemia, variable jaundice and hepato-splenomegaly. Gallbladder disease and secondary haemochromatosis are frequent complications. We report a case characterised by severe transfusion-dependent anaemia. The proband inherited CDA-II in association with beta-thalassaemia trait. Splenectomy did not

A Iolascon; V Sabato; D de Mattia; F Locatelli

2001-01-01

129

Quantitative Trait Loci in Brassica rapa.  

National Technical Information Service (NTIS)

This paper briefly examines current methodology for developing genetic linkage maps and using them to find loci for quantitative traits (QTL). Maximum likelihood interval mapping is viewed as an extension of classical least squares methods when the trait ...

B. S. Yandell

1992-01-01

130

Traits: Composable Units of Behaviour  

Microsoft Academic Search

Despite the undisputed prominence of inheritance as the fundamental reuse mechanism in object-oriented programming languages, the main variants — single inheritance, multiple inheritance, and mixin inheritance — all suffer from conceptual and practical problems. In the first part of this paper, we identify and illustrate these problems. We then present traits, a simple compositional model for structuring object-oriented programs. A

Nathanael Schärli; Stéphane Ducasse; Oscar Nierstrasz; Andrew P. Black

2003-01-01

131

Targeted fetal hemoglobin induction for treatment of beta hemoglobinopathies.  

PubMed

Fetal globin (gamma globin; HBG) is normally expressed during fetal life and prevents the clinical manifestations of beta hemoglobinopathies before birth. HBG genes are normally integrated in hematopoietic stem cells in all humans, and are at least partially amenable to reactivation. Inducing expression of fetal globin (HBG) gene expression to 60% to 70% of alpha globin synthesis produces a ?-thalassemia trait phenotype, and reduces anemia. Tailoring combinations of therapeutics to patient subsets characterized for quantitative trait loci which modulate basal fetal hemoglobin and erythroid cell survival should provide effective amelioration of clinical symptoms in ?-thalassemia and sickle cell disease. PMID:24589264

Perrine, Susan P; Pace, Betty S; Faller, Douglas V

2014-04-01

132

Quantitative Trait Loci in Brassica rapa  

Microsoft Academic Search

This paper briefly examines current methodology for developing genetic linkage maps and using them to find loci for quantitative traits (QTL). Maximum likelihood interval mapping is viewed as an extension of classical least squares methods when the trait of interest is normally distributed and located near a genetic marker. Some problems in finding multiple loci for a quantitative trait are

Brian S. Yandell

133

Trait Affectivity and Nonreferred Adolescent Conduct Problems  

ERIC Educational Resources Information Center

This study examined for profiles of positive trait affectivity (PA) and negative trait affectivity (NA) associated with adolescent conduct problems. Prior trait affectivity research has been relatively biased toward the assessment of adults and internalizing symptomatology. Consistent with recent developmental modeling of antisocial behavior, this…

Loney, Bryan R.; Lima, Elizabeth N.; Butler, Melanie A.

2006-01-01

134

Freshwater Biological Traits Database (Final Report)  

EPA Science Inventory

This final report discusses the development of a database of freshwater biological traits. The database combines several existing traits databases into an online format. The database is also augmented with additional traits that are relevant to detecting climate change-related ef...

135

Freshwater Biological Traits Database (External Review Draft)  

EPA Science Inventory

This draft report discusses the development of a database of freshwater biological traits. The database combines several existing traits databases into an online format. The database is also augmented with additional traits that are relevant to detecting climate change-related ef...

136

Selective sweep at a quantitative trait locus in the presence of background genetic variation.  

PubMed

We model selection at a locus affecting a quantitative trait (QTL) in the presence of genetic variance due to other loci. The dynamics at the QTL are related to the initial genotypic value and to the background genetic variance of the trait, assuming that background genetic values are normally distributed, under three different forms of selection on the trait. Approximate dynamics are derived under the assumption of small mutation effect. For similar strengths of selection on the trait (i.e, gradient of directional selection beta) the way background variation affects the dynamics at the QTL critically depends on the shape of the fitness function. It generally causes the strength of selection on the QTL to decrease with time. The resulting neutral heterozygosity pattern resembles that of a selective sweep with a constant selection coefficient corresponding to the early conditions. The signature of selection may also be blurred by mutation and recombination in the later part of the sweep. We also study the race between the QTL and its genetic background toward a new optimum and find the conditions for a complete sweep. Overall, our results suggest that phenotypic traits exhibiting clear-cut molecular signatures of selection may represent a biased subset of all adaptive traits. PMID:18832353

Chevin, Luis-Miguel; Hospital, Frédéric

2008-11-01

137

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing ?- and ss-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification  

PubMed Central

Background: Approximately 80% of the ?- and 10% of the ß-thalassaemias are caused by genomic deletions involving the ?- and ß-globin gene clusters on chromosomes 16p13.3 and 11p15.5, respectively. Gap-PCR, Southern blot analysis, and fluorescent in situ hybridisation are commonly used to identify these deletions; however, many deletions go undetected using conventional techniques. Methods: Patient samples for which no abnormalities had been found using conventional DNA techniques were analysed by a three colour multiplex ligation-dependent probe amplification assay. Two sets of 35 and 50 probes, covering a region of 700 kb of the ?- and 500 kb of the ß-globin gene cluster, respectively, were designed to detect rearrangements in the ?- and ß-globin gene clusters. Results: In 19 out of 38 patient samples, we found 11 different ?-thalassaemia deletions, six of which were not previously described. Two novel deletions leaving the ?-globin gene cluster intact were found to cause a complete downregulation of the downstream ?-genes. Similarly, 31 out of 51 patient samples were found to carry 10 different deletions involving the ß-globin gene cluster, three of which were not previously described. One involves the deletion of the locus control region leaving the ß-globin gene cluster intact. Conclusions: These deletions, which are not easily detected by conventional techniques, may have clinical implications during pregnancy ranging from mild to life threatening microcytic haemolytic anaemia in neonates. The approach as described here is a rapid and sensitive method for high resolution analysis of the globin gene clusters and for any region of the genome.

Harteveld, C; Voskamp, A; Phylipsen, M; Akkermans, N; den Dunnen, J T; White, S; Giordano, P

2005-01-01

138

The heritability of ocular traits.  

PubMed

Heritability is the proportion of phenotypic variation in a population that is attributable to genetic variation among individuals. Many ophthalmic disorders and biometric traits are known to have a genetic basis and consequently much work has been published in the literature estimating the heritability of various ocular parameters. We collated and summarized the findings of heritability studies conducted in the field of ophthalmology. We grouped the various studies broadly by phenotype as follows: refraction, primary open-angle glaucoma, age-related macular degeneration (AMD), cataract, diabetic retinopathy, and others. A total of 82 articles were retrieved from the literature relating to estimation of heritability for an ocular disease or biometric trait; of these, 37 papers were concerned with glaucoma, 28 with refraction, 4 with AMD, 5 with diabetic retinopathy, and 4 with cataract. The highest reported heritability for an ophthalmic trait is 0.99 for the phenotype ? 20 small hard drusen, indicating that observed variation in this parameter is largely governed by genetic factors. Over 60% of the studies employed a twin study design and a similar percentage utilized variance components methods and structural equation modeling (SEM) to derive their heritability values. Using modern SEM techniques, heritability estimates derived from twin subjects were generally higher than those from family data. Many of the estimates are in the moderate to high range, but to date the majority of genetic variants accounting for these findings have not been uncovered, hence much work remains to be undertaken to elucidate fully their molecular etiology. PMID:20851442

Sanfilippo, Paul G; Hewitt, Alex W; Hammond, Chris J; Mackey, David A

2010-01-01

139

Nkx6.1 is essential for maintaining the functional state of pancreatic beta cells  

PubMed Central

Summary Recently, loss of beta cell-specific traits has been proposed as an early cause of beta cell failure in diabetes. However, the molecular mechanisms that underlie this loss of beta cell features remain unclear. Here, we identify an Nkx6.1-controlled gene regulatory network as essential for maintaining the functional and molecular traits of mature beta cells. Conditional Nkx6.1 inactivation in adult mice caused rapid-onset diabetes and hypoinsulinemia. Genome-wide analysis of Nkx6.1-regulated genes and functional assays further revealed a critical role for Nkx6.1 in the control of insulin biosynthesis, insulin secretion and beta cell proliferation. Over time, Nkx6.1-deficient beta cells acquired molecular characteristics of delta cells, revealing a molecular link between impaired beta cell functional properties and loss of cell identity. Given that Nkx6.1 levels are reduced in human type 2-diabetic beta cells, our study lends support to the concept that loss of beta cell features could contribute to the pathogenesis of diabetes.

Taylor, Brandon L.; Liu, Fen-Fen; Sander, Maike

2013-01-01

140

Comparison of single-trait and multiple-trait genomic prediction models  

PubMed Central

Background In this study, a single-trait genomic model (STGM) is compared with a multiple-trait genomic model (MTGM) for genomic prediction using conventional estimated breeding values (EBVs) calculated using a conventional single-trait and multiple-trait linear mixed models as the response variables. Three scenarios with and without missing data were simulated; no missing data, 90% missing data in a trait with high heritability, and 90% missing data in a trait with low heritability. The simulated genome had a length of 500 cM with 5000 equally spaced single nucleotide polymorphism markers and 300 randomly distributed quantitative trait loci (QTL). The true breeding values of each trait were determined using 200 of the QTLs, and the remaining 100 QTLs were assumed to affect both the high (trait I with heritability of 0.3) and the low (trait II with heritability of 0.05) heritability traits. The genetic correlation between traits I and II was 0.5, and the residual correlation was zero. Results The results showed that when there were no missing records, MTGM and STGM gave the same reliability for the genomic predictions for trait I while, for trait II, MTGM performed better that STGM. When there were missing records for one of the two traits, MTGM performed much better than STGM. In general, the difference in reliability of genomic EBVs predicted using the EBV response variables estimated from either the multiple-trait or single-trait models was relatively small for the trait without missing data. However, for the trait with missing data, the EBV response variable obtained from the multiple-trait model gave a more reliable genomic prediction than the EBV response variable from the single-trait model. Conclusions These results indicate that MTGM performed better than STGM for the trait with low heritability and for the trait with a limited number of records. Even when the EBV response variable was obtained using the multiple-trait model, the genomic prediction using MTGM was more reliable than the prediction using the STGM.

2014-01-01

141

Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis.  

PubMed Central

The frequencies of four malaria associated erythrocyte genetic abnormalities have been established in 1000 Omani subjects. They are: homozygous alpha+ thalassaemia (-alpha/-alpha) 0.45; high Hb A2 beta thalassaemia trait 0.015; sickle trait (Hb A/S) 0.061; and glucose 6 phosphate dehydrogenase deficiency (Gd-): males 0.27, females 0.11. From our data the alpha+ (-alpha/) thal gene (confirmed by Southern blotting) is pandemic in this population. Moreover, in spite of the very high frequency of Gd-, oxidative haemolytic syndromes are very uncommon. Also preliminary data indicate that among the Omani population with sickle cell disease, homozygosity of the alpha+ gene markedly modifies the clinical picture.

White, J M; Christie, B S; Nam, D; Daar, S; Higgs, D R

1993-01-01

142

Valence Effects in Reasoning About Evaluative Traits  

PubMed Central

Reasoning about evaluative traits was investigated among a group of 7- and 8-year-olds (N = 34), a group of 11- to 13-year olds (N = 25), and a group of adults (N = 23) to determine whether their inferences would be sensitive to the valence of social and academic traits. Four aspects of trait-relevant beliefs were examined: (1) malleability, (2) stability over time, (3) origin in terms of nature versus nurture, and (4) an inference criterion that concerns how readily traits are inferred. Although there was evidence of an age-related decrease in the tendency to emphasize positive information, participants of all ages responded that positive traits are less malleable and more stable over time than negative traits, that the positive influences of biological and environmental factors are likely to override the negative influences, and that competence can be more readily inferred from positive outcomes than from negative outcomes.

Heyman, Gail D.; Giles, Jessica W.

2010-01-01

143

Chai: Traits for Java-Like Languages  

Microsoft Academic Search

Traits support the factoring out of common behaviour, and its integration into classes in a manner that coexists smoothly with inheritance-based structuring mechanisms. We designed the language Chai, which incorporates statically typed traits into a simple Java-inspired base language, and we discuss three versions of the language: Chai1, where traits are only a mechanism for the creation of classes; Chai2

Charles Smith; Sophia Drossopoulou

2005-01-01

144

Trait anxiety, but not trait anger, predisposes obese individuals to emotional eating  

PubMed Central

The present study examined whether trait anxiety and trait anger are associated with vulnerability to emotional eating, particularly among obese individuals. Lean (n=37) and obese (n=24) participants engaged in a laboratory study where they completed measures of trait anxiety and trait anger at screening and then completed 3 counterbalanced experimental sessions involving different mood inductions (neutral, anxiety, anger). Following each mood induction, participants were provided with snack foods in a sham taste test. Models predicting snack intake revealed a significant trait anxiety × body mass index group interaction, such that high trait anxiety was positively associated with food intake for obese individuals, but not their lean counterparts. Contrary to the hypothesis, trait anger was not associated with food intake for obese or lean participants. Results suggest that trait anxiety may be a risk factor for emotional eating among obese individuals.

Schneider, Kristin L.; Appelhans, Bradley M.; Whited, Matthew C.; Oleski, Jessica; Pagoto, Sherry L.

2010-01-01

145

Inconsistencies in spontaneous and intentional trait inferences  

PubMed Central

This study explores the fMRI correlates of observers making trait inferences about other people under conflicting social cues. Participants were presented with several behavioral descriptions involving an agent that implied a particular trait. The last behavior was either consistent or inconsistent with the previously implied trait. This was done under instructions that elicited either spontaneous trait inferences (‘read carefully’) or intentional trait inferences (‘infer a trait’). The results revealed that when the behavioral descriptions violated earlier trait implications, regardless of instruction, the medial prefrontal cortex (mPFC) was more strongly recruited as well as the domain-general conflict network including the posterior medial frontal cortex (pmFC) and the right prefrontal cortex (rPFC). These latter two areas were more strongly activated under intentional than spontaneous instructions. These findings suggest that when trait-relevant behavioral information is inconsistent, not only is activity increased in the mentalizing network responsible for trait processing, but control is also passed to a higher level conflict monitoring network in order to detect and resolve the contradiction.

Ma, Ning; Vandekerckhove, Marie; Baetens, Kris; Seurinck, Ruth; Fias, Wim

2012-01-01

146

Associations between casein haplotypes and milk production traits of Swiss Brown cattle.  

PubMed

Effects of casein haplotypes and beta-lactoglobulin (LG) genotypes on milk protein fractions and on daughter yield deviations for milk performance traits were estimated from a daughter design. Offspring of seven Swiss Brown sires with the haplotypes B-A-B-A and B-A-B-B for alpha s1-, alpha s2-, beta-, and kappa-caseins were selected. The milk of daughter groups with paternal haplotype B-A-B-A was associated with lower casein content and higher whey protein content compared with B-A-B-B. Because of these contrary effects, the true protein content was not affected by the paternal haplotypes. The effects of maternal haplotypes were significant on true protein and casein content but not on whey protein content. The beta-LG genotypes had highly significant effects on casein and whey protein content. The effect of beta-LG BB was positive on casein and negative on whey protein content compared with beta-LG AA; the effect of beta-LG AB was intermediate. No significant effects of paternal haplotypes were found for daughter yield deviation on kilograms of milk, fat, and protein or percentages of fat and protein. The effects of the beta-LG genotypes were, independent of the parental haplotypes, close to significant on daughter yield deviation for percentage of protein. The beta-LG BB tended to be associated with a higher protein content compared with beta-LG AA. The effects for beta-LG genotypes showed additive gene effects. The analysis of paternal haplotypes within sires revealed a contrary effect of haplotypes for two of the seven sires for casein content. The paternal haplotypes within sire showed, although not significant, that haplotypes of the two sires had a contrary effect on daughter yield deviation for percentage of protein as well. PMID:10877406

Braunschweig, M; Hagger, C; Stranzinger, G; Puhan, Z

2000-06-01

147

Social personality trait and fitness  

PubMed Central

Several recent studies have explored various aspects of animal personality and their ecological consequences. However, the processes responsible for the maintenance of personality variability within a population are still largely unknown. We have recently demonstrated that social personality traits exist in the common lizard (Lacerta vivipara) and that the variation in sociability provides an explanation for variable dispersal responses within a given species. However, we need to know the fitness consequences of variation in sociability across environmental contexts in order to better understand the maintenance of such variation. In order to achieve this, we investigated the relationship between sociability and survival, body growth and fecundity, in one-year-old individuals in semi-natural populations with varying density. ‘Asocial’ and ‘social’ lizards displayed different fitness outcomes in populations of different densities. Asocial lizards survived better in low-density populations, while social females reproduced better. Spatiotemporal variation in environmental conditions might thus be the process underlying the maintenance of these personality traits within a population. Finally, we also discuss the position of sociability in a more general individual behavioural pattern including boldness, exploration and aggressiveness.

Cote, J; Dreiss, A; Clobert, J

2008-01-01

148

Life Cycles and Inherited Traits  

NSDL National Science Digital Library

Young children are fascinated as they watch lizards, frogs, butterflies and other small animals develop through life stages, from being born to adult to death. Some of them experience pets at home, while others visit zoos and learn through online resources. Gardening offers an opportunity to observe stages of growth in plants and presents another view of the diversity of life. Characteristics of living organisms, their stages of life and the diversity around us are major concepts developed within this guide. Elementary students learn about growth and development and characteristics of organisms by observing plants and animals that are part of their immediate environment. Through these observations and experiences they begin to notice and develop an understanding that offspring resemble their parents; that characteristics (traits that are observed) are diverse even within same species; and that patterns and variations occur at every level of life. This foundation provides the basic building blocks that are instrumental to the further understanding of genes, traits, heredity and reproductions that they will study in later grades. All resources within this guide correspond to the National Science Education Standards and have been reviewed and evaluated by a team of experienced science teachers, taking into account the needs and concerns of elementary school teachers and students.

National Science Teachers Association (NSTA)

2005-04-01

149

Mapping of quantitative trait loci for flesh colour and growth traits in Atlantic salmon (Salmo salar)  

Microsoft Academic Search

BACKGROUND: Flesh colour and growth related traits in salmonids are both commercially important and of great interest from a physiological and evolutionary perspective. The aim of this study was to identify quantitative trait loci (QTL) affecting flesh colour and growth related traits in an F2 population derived from an isolated, landlocked wild population in Norway (Byglands Bleke) and a commercial

Matthew Baranski; Thomas Moen; Dag Inge Våge

2010-01-01

150

Genetic properties of egg quality traits and their correlations with performance traits in Japanese quail  

Microsoft Academic Search

1. Performance traits were measured on 1908 Japanese quail and egg quality traits assessed on 1800 eggs at 10 wk of age.2. Genetic and phenotypic correlations were estimated using a bivariate animal model with restricted maximum likelihood using ASREML software.3. Body weight at different ages showed positive genetic correlations with egg weight and most of the internal egg quality traits,

E. Lotfi; S. Zerehdaran; Z. Raoufi

2012-01-01

151

Application of the False Discovery Rate to Quantitative Trait Loci Interval Mapping With Multiple Traits  

Microsoft Academic Search

Controlling the false discovery rate (FDR) has been proposed as an alternative to controlling the genome- wise error rate (GWER) for detecting quantitative trait loci (QTL) in genome scans. The objective here was to implement FDR in the context of regression interval mapping for multiple traits. Data on five traits from an F2 swine breed cross were used. FDR was

Hakkyo Lee; Jack C. M. Dekkers; M. Soller; Massoud Malek; Rohan L. Fernando; Max F. Rothschild

2002-01-01

152

A Simple Analysis of an Inherited Trait  

ERIC Educational Resources Information Center

Described is a classroom activity for analyzing an inherited human trait, the ability to tast phenylthiocarbamide (PTC). Formulas for analyzing gene frequency are given for classroom and neighborhood samples. Additional tables include statistics on the ability to taste PTC and other easily sampled human traits. (MA)

Aagaard, Stanley; Keller, Elhannan

1977-01-01

153

Leaf trait relationships in Australian plant species  

Microsoft Academic Search

Leaf trait data were compiled for 258 Australian plant species from several habitat types dominated by woody perennials. Specific leaf area (SLA), photosynthetic capacity, dark respiration rate and leaf nitrogen (N) and phosphorus (P) concentrations were positively correlated with one another and negatively correlated with average leaf lifespan. These trait relationships were consistent with previous results from global datasets. Together,

Ian J. Wright; Philip K. Groom; Byron B. Lamont; Pieter Poot; Peter B. Reich; E-Detlef Schulze; Erik J. Veneklaas; Mark Westoby; Penrith South

2004-01-01

154

Motivational Traits of Elite Young Soccer Players  

ERIC Educational Resources Information Center

Among the most overlooked aspects in the development of elite young soccer players is that of specific psychological traits. Of those traits, motivation has important implications for programs whose objectives are identification and cultivation of young, skilled performers. The growth in popularity of soccer by youth and the successes experienced…

Stewart, Craig; Meyers, Michael C.

2004-01-01

155

Sickle Cell Trait, Exercise, and Altitude.  

ERIC Educational Resources Information Center

Sickle cell trait is generally benign and does not shorten life, but it may confer some small risk with extremes of exercise or altitude. Research concerning these risks is presented, and it is concluded sickle cell trait is no barrier to outstanding athletic performance. (Author/MT)

Eichner, Edward R.

1986-01-01

156

Retinopathy in patients with sickle cell trait  

Microsoft Academic Search

BackgroundSickle hemoglobinopathies are among the most prevalent genetic disorders in the United States. Sickle cell trait (hemoglobin AS) is the most common genotype and has traditionally been considered a benign condition. Systemic and ocular complications are seen infrequently in patients with sickle cell trait. In the presence of concomitant systemic diseases or trauma, however, marked retinopathy can occur. The presence

Sherrol A. Reynolds; Eulogio Besada; Christine Winter-Corella

2007-01-01

157

Trait Level Estimation for Nonfitting Response Vectors.  

ERIC Educational Resources Information Center

Used three scoring methods (maximum likelihood estimation, expected a posteriori estimation, and biweight estimation) to estimate the latent trait values when nonmodel response vectors (NRVs) were present. Also investigated the relationship between the detection rate of a person-fit index and the error in the latent trait estimate. Discusses the…

Meijer, Rob R.; Nering, Michael L.

1997-01-01

158

Evolution of species trait through resource competition.  

PubMed

To understand the evolution of diverse species, theoretical studies using a Lotka-Volterra type direct competition model had shown that concentrated distributions of species in continuous trait space often occurs. However, a more mechanistic approach is preferred because the competitive interaction of species usually occurs not directly but through competition for resource. We consider a chemostat-type model where species consume resource that are constantly supplied. Continuous traits in both consumer species and resource are incorporated. Consumers utilize resource whose trait values are similar with their own. We show that, even when resource-supply has a continuous distribution in trait space, a positive continuous distribution of consumer trait is impossible. Self-organized generation of distinct species occurs. We also prove global convergence to the evolutionarily stable distribution. PMID:21695530

Mirrahimi, Sepideh; Perthame, Benoît; Wakano, Joe Yuichiro

2012-06-01

159

Cultural traits as units of analysis  

PubMed Central

Cultural traits have long been used in anthropology as units of transmission that ostensibly reflect behavioural characteristics of the individuals or groups exhibiting the traits. After they are transmitted, cultural traits serve as units of replication in that they can be modified as part of an individual's cultural repertoire through processes such as recombination, loss or partial alteration within an individual's mind. Cultural traits are analogous to genes in that organisms replicate them, but they are also replicators in their own right. No one has ever seen a unit of transmission, either behavioural or genetic, although we can observe the effects of transmission. Fortunately, such units are manifest in artefacts, features and other components of the archaeological record, and they serve as proxies for studying the transmission (and modification) of cultural traits, provided there is analytical clarity over how to define and measure the units that underlie this inheritance process.

O'Brien, Michael J.; Lyman, R. Lee; Mesoudi, Alex; VanPool, Todd L.

2010-01-01

160

BETA GAUGE OPERATION MANUAL  

EPA Science Inventory

This manual provides description and operating instructions for a redesigned Beta Gauge for measuring particles from vehicle exhaust. The improvements and a new control system including a control unit which is radically different from the prior unit, are described. Complete Beta ...

161

Beta Coin Experiment  

NSDL National Science Digital Library

This resource consists of a Java applet and expository text. The applet illustrates Bayesian estimation of the probability of heads for a coin. The prior beta distribution, true probability of heads, and the sample size can be specified. The applet shows the posterior beta distribution.

Siegrist, Kyle

162

MOON for neutrino-less {beta}{beta} decays and {beta}{beta} nuclear matrix elements  

SciTech Connect

The MOON project aims at spectroscopic 0v{beta}{beta} studies with the v-mass sensitivity of 100-30 meV by measuring two beta rays from {sup 100}Mo and/or {sup 82}Se. The detector is a compact super-module of multi-layer PL scintillator plates. R and D works made by the pro to-type MOON-1 and the small PL plate show the possible energy resolution of around {sigma}{approx}2.2%, as required for the mass sensitivity. Nuclear matrix elements M{sup 2v} for 2v{beta}{beta} are shown to be given by the sum {sigma}{sub L}M{sub k} of the 2v{beta}{beta} matrix elements M{sub k} through intermediate quasi-particle states in the Fermi-surface, where Mi is obtained experimentally by using the GT(J{sup {pi}} = 1{sup +}) matrix elements of M{sub i}(k) and M{sub f}(k) for the successive single-{beta} transitions through the k-th intermediate state.

Ejiri, H. [Research Center for Nuclear Physics, Osaka University, Osaka 567-0047 (Japan)

2009-11-09

163

Mapping Quantitative Trait Loci for Expression Abundance  

PubMed Central

Mendelian loci that control the expression levels of transcripts are called expression quantitative trait loci (eQTL). When mapping eQTL, we often deal with thousands of expression traits simultaneously, which complicates the statistical model and data analysis. Two simple approaches may be taken in eQTL analysis: (1) individual transcript analysis in which a single expression trait is mapped at a time and the entire eQTL mapping involves separate analysis of thousands of traits and (2) individual marker analysis where differentially expressed transcripts are detected on the basis of their association with the segregation pattern of an individual marker and the entire analysis requires scanning markers of the entire genome. Neither approach is optimal because data are not analyzed jointly. We develop a Bayesian clustering method that analyzes all expressed transcripts and markers jointly in a single model. A transcript may be simultaneously associated with multiple markers. Additionally, a marker may simultaneously alter the expression of multiple transcripts. This is a model-based method that combines a Gaussian mixture of expression data with segregation of multiple linked marker loci. Parameter estimation for each variable is obtained via the posterior mean drawn from a Markov chain Monte Carlo sample. The method allows a regular quantitative trait to be included as an expression trait and subject to the same clustering assignment. If an expression trait links to a locus where a quantitative trait also links, the expressed transcript is considered to be associated with the quantitative trait. The method is applied to a microarray experiment with 60 F2 mice measured for 25 different obesity-related quantitative traits. In the experiment, ?40,000 transcripts and 145 codominant markers are investigated for their associations. A program written in SAS/IML is available from the authors on request.

Jia, Zhenyu; Xu, Shizhong

2007-01-01

164

A Hierarchical Bayesian Approach to Multi-Trait Clinical Quantitative Trait Locus Modeling  

PubMed Central

Recent advances in high-throughput genotyping and transcript profiling technologies have enabled the inexpensive production of genome-wide dense marker maps in tandem with huge amounts of expression profiles. These large-scale data encompass valuable information about the genetic architecture of important phenotypic traits. Comprehensive models that combine molecular markers and gene transcript levels are increasingly advocated as an effective approach to dissecting the genetic architecture of complex phenotypic traits. The simultaneous utilization of marker and gene expression data to explain the variation in clinical quantitative trait, known as clinical quantitative trait locus (cQTL) mapping, poses challenges that are both conceptual and computational. Nonetheless, the hierarchical Bayesian (HB) modeling approach, in combination with modern computational tools such as Markov chain Monte Carlo (MCMC) simulation techniques, provides much versatility for cQTL analysis. Sillanpää and Noykova (2008) developed a HB model for single-trait cQTL analysis in inbred line cross-data using molecular markers, gene expressions, and marker-gene expression pairs. However, clinical traits generally relate to one another through environmental correlations and/or pleiotropy. A multi-trait approach can improve on the power to detect genetic effects and on their estimation precision. A multi-trait model also provides a framework for examining a number of biologically interesting hypotheses. In this paper we extend the HB cQTL model for inbred line crosses proposed by Sillanpää and Noykova to a multi-trait setting. We illustrate the implementation of our new model with simulated data, and evaluate the multi-trait model performance with regard to its single-trait counterpart. The data simulation process was based on the multi-trait cQTL model, assuming three traits with uncorrelated and correlated cQTL residuals, with the simulated data under uncorrelated cQTL residuals serving as our test set for comparing the performances of the multi-trait and single-trait models. The simulated data under correlated cQTL residuals were essentially used to assess how well our new model can estimate the cQTL residual covariance structure. The model fitting to the data was carried out by MCMC simulation through OpenBUGS. The multi-trait model outperformed its single-trait counterpart in identifying cQTLs, with a consistently lower false discovery rate. Moreover, the covariance matrix of cQTL residuals was typically estimated to an appreciable degree of precision under the multi-trait cQTL model, making our new model a promising approach to addressing a wide range of issues facing the analysis of correlated clinical traits.

Mutshinda, Crispin M.; Noykova, Neli; Sillanpaa, Mikko J.

2012-01-01

165

Linkage disequilibrium between the beta frequency of the human EEG and a GABAA receptor gene locus  

PubMed Central

Human brain oscillations represent important features of information processing and are highly heritable. A common feature of beta oscillations (13–28 Hz) is the critical involvement of networks of inhibitory interneurons as pacemakers, gated by ?-aminobutyric acid type A (GABAA) action. Advances in molecular and statistical genetics permit examination of quantitative traits such as the beta frequency of the human electroencephalogram in conjunction with DNA markers. We report a significant linkage and linkage disequilibrium between beta frequency and a set of GABAA receptor genes. Uncovering the genes influencing brain oscillations provides a better understanding of the neural function involved in information processing.

Porjesz, Bernice; Almasy, Laura; Edenberg, Howard J.; Wang, Kongming; Chorlian, David B.; Foroud, Tatiana; Goate, Alison; Rice, John P.; O'Connor, Sean J.; Rohrbaugh, John; Kuperman, Samuel; Bauer, Lance O.; Crowe, Raymond R.; Schuckit, Marc A.; Hesselbrock, Victor; Conneally, P. Michael; Tischfield, Jay A.; Li, Ting-Kai; Reich, Theodore; Begleiter, Henri

2002-01-01

166

Selection and evolution of causally covarying traits.  

PubMed

When traits cause variation in fitness, the distribution of phenotype, weighted by fitness, necessarily changes. The degree to which traits cause fitness variation is therefore of central importance to evolutionary biology. Multivariate selection gradients are the main quantity used to describe components of trait-fitness covariation, but they quantify the direct effects of traits on (relative) fitness, which are not necessarily the total effects of traits on fitness. Despite considerable use in evolutionary ecology, path analytic characterizations of the total effects of traits on fitness have not been formally incorporated into quantitative genetic theory. By formally defining "extended" selection gradients, which are the total effects of traits on fitness, as opposed to the existing definition of selection gradients, a more intuitive scheme for characterizing selection is obtained. Extended selection gradients are distinct quantities, differing from the standard definition of selection gradients not only in the statistical means by which they may be assessed and the assumptions required for their estimation from observational data, but also in their fundamental biological meaning. Like direct selection gradients, extended selection gradients can be combined with genetic inference of multivariate phenotypic variation to provide quantitative prediction of microevolutionary trajectories. PMID:24611949

Morrissey, Michael B

2014-06-01

167

Enhanced efficiency of quantitative trait loci mapping analysis based on multivariate complexes of quantitative traits.  

PubMed Central

An approach to increase the efficiency of mapping quantitative trait loci (QTL) was proposed earlier by the authors on the basis of bivariate analysis of correlated traits. The power of QTL detection using the log-likelihood ratio (LOD scores) grows proportionally to the broad sense heritability. We found that this relationship holds also for correlated traits, so that an increased bivariate heritability implicates a higher LOD score, higher detection power, and better mapping resolution. However, the increased number of parameters to be estimated complicates the application of this approach when a large number of traits are considered simultaneously. Here we present a multivariate generalization of our previous two-trait QTL analysis. The proposed multivariate analogue of QTL contribution to the broad-sense heritability based on interval-specific calculation of eigenvalues and eigenvectors of the residual covariance matrix allows prediction of the expected QTL detection power and mapping resolution for any subset of the initial multivariate trait complex. Permutation technique allows chromosome-wise testing of significance for the whole trait complex and the significance of the contribution of individual traits owing to: (a) their correlation with other traits, (b) dependence on the chromosome in question, and (c) both a and b. An example of application of the proposed method on a real data set of 11 traits from an experiment performed on an F(2)/F(3) mapping population of tetraploid wheat (Triticum durum x T. dicoccoides) is provided.

Korol, A B; Ronin, Y I; Itskovich, A M; Peng, J; Nevo, E

2001-01-01

168

TRAIT ANXIETY PROFILE OF KORO PATIENTS  

PubMed Central

SUMMMARY Koro is regarded as a psychogenic acute anxiety reaction since last forty years. In spite of quite a few research publications on koro during last twenty years, no report on psychometric assessment of anxiety level in Koro is available to substantiate this diagnostic status. The present study in this context is the first attempt of psychometric measurement of anxiety proneness or trait anxiety level in Koro patients. Trait anxiety measurement of 186 male Koro patients showed the presence ot higher level of trait anxiety in Koro than the normal sujects.

Chowdhury, Arabinda N.

1990-01-01

169

Circ2Traits: a comprehensive database for circular RNA potentially associated with disease and traits  

PubMed Central

Circular RNAs are new players in regulation of post transcriptional gene expression. Animal genomes express many circular RNAs from diverse genomic locations. A recent study has validated a fairly large number of circular RNAs in human, mouse, and nematode. Circular RNAs play a crucial role in fine tuning the level of miRNA mediated regulation of gene expression by sequestering the miRNAs. Their interaction with disease associated miRNAs indicates that circular RNAs are important for disease regulation. In this paper we studied the potential association of circular RNAs (circRNA) with human diseases in two different ways. Firstly, the interactions of circRNAs with disease associated miRNAs were identified, following which the likelihood of a circRNA being associated with a disease was calculated. For the miRNAs associated with individual diseases, we constructed a network of predicted interactions between the miRNAs and protein coding, long non-coding and circular RNA genes. We carried out gene ontology (GO) enrichment analysis on the set of protein coding genes in the miRNA- circRNA interactome of individual diseases to check the enrichment of genes associated with particular biological processes. Secondly, disease associated SNPs were mapped on circRNA loci, and Argonaute (Ago) interaction sites on circular RNAs were identified. We compiled a database of disease-circRNA association in Circ2Traits (http://gyanxet-beta.com/circdb/), the first comprehensive knowledgebase of potential association of circular RNAs with diseases in human.

Ghosal, Suman; Das, Shaoli; Sen, Rituparno; Basak, Piyali; Chakrabarti, Jayprokas

2013-01-01

170

beta-Endorphin and beta-MSH in human plasma.  

PubMed

The aim of this study was to establish whether or not a peptide with chromatographic and immunological properties of beta-endorphin exists in human plasma. Using direct chromatography under conditions designed to minimize generation of beta-endorphin and beta-MSH from beta-LPH, we invariably found a peptide with beta-endorphin immunoreactivity eluting in the position of beta h-endorphin on gel chromatography in samples of plasma from patients with elevated ACTH and LPH levels. beta-MSH was only found in the plasma of one patient with the ectopic ACTH syndrome. PMID:6248274

McLoughlin, L; Lowry, P J; Ratter, S; Besser, G M; Rees, L H

1980-03-01

171

Beta Estimate Experiment  

NSDL National Science Digital Library

This resource consists of a Java applet and expository text. The applet simulates a random sample from a beta distribution, and computes standard point estimates of the left and right parameters. The bias and mean square error are also computed.

Siegrist, Kyle

172

Beta barium borate (BBO)  

Microsoft Academic Search

The paper contains a review of crystallographic, optical and nonlinear optical properties of beta barium borate (ß-BaB2O4 or BBO) crystal and presents a description of its typical applications in nonlinear optics and quantum electronics.

D. N. Nikogosyan

1991-01-01

173

ICQ 2000b Beta  

NSDL National Science Digital Library

The latest beta release of the universally popular instant messaging program ICQ ("I seek you") contains a number of new features, including ICQphone, which makes it possible for users to initiate and participate in PC-to-PC and PC-to-Phone calls, support for SMS technology, integration with Outlook, and email address import, among others. Users can download ICQ 2000b Beta for free at the ICQ site.

2001-01-01

174

Trait Values, Not Trait Plasticity, Best Explain Invasive Species' Performance in a Changing Environment  

PubMed Central

The question of why some introduced species become invasive and others do not is the central puzzle of invasion biology. Two of the principal explanations for this phenomenon concern functional traits: invasive species may have higher values of competitively advantageous traits than non-invasive species, or they may have greater phenotypic plasticity in traits that permits them to survive the colonization period and spread to a broad range of environments. Although there is a large body of evidence for superiority in particular traits among invasive plants, when compared to phylogenetically related non-invasive plants, it is less clear if invasive plants are more phenotypically plastic, and whether this plasticity confers a fitness advantage. In this study, I used a model group of 10 closely related Pinus species whose invader or non-invader status has been reliably characterized to test the relative contribution of high trait values and high trait plasticity to relative growth rate, a performance measure standing in as a proxy for fitness. When grown at higher nitrogen supply, invaders had a plastic RGR response, increasing their RGR to a much greater extent than non-invaders. However, invasive species did not exhibit significantly more phenotypic plasticity than non-invasive species for any of 17 functional traits, and trait plasticity indices were generally weakly correlated with RGR. Conversely, invasive species had higher values than non-invaders for 13 of the 17 traits, including higher leaf area ratio, photosynthetic capacity, photosynthetic nutrient-use efficiency, and nutrient uptake rates, and these traits were also strongly correlated with performance. I conclude that, in responding to higher N supply, superior trait values coupled with a moderate degree of trait variation explain invasive species' superior performance better than plasticity per se.

Matzek, Virginia

2012-01-01

175

Mapping Quantitative Trait Loci Affecting Life History Traits in the Nematode Caenorhabditis elegans  

Microsoft Academic Search

We have identified chromosomal regions containing quantitative trait loci (QTLs) specifylng life history traits in recombinant-inbred strains of the nematode Caenorhabditis elegans. This approach also allows us to examine epistatic interactions between loci and pleiotropic effects on different traits at specific loci. QTLs for mean life span were identified on chromosomes ZZ (near stPlOl), N (stP5) and the X (stP61),

David R. Shook; Anne Brooks; Thomas E. Johnson

176

Stereotype Traits can be Processed Automatically.  

National Technical Information Service (NTIS)

Stereotypes can theoretically influence information processing in two different ways: through passive activation of stereotype-related trait concepts in a network memory structure, or through consciously generated expectancies and inferences. A priming pa...

E. R. Smith N. R. Branscombe

1984-01-01

177

Function-valued traits in evolution.  

PubMed

Many biological characteristics of evolutionary interest are not scalar variables but continuous functions. Given a dataset of function-valued traits generated by evolution, we develop a practical, statistical approach to infer ancestral function-valued traits, and estimate the generative evolutionary process. We do this by combining dimension reduction and phylogenetic Gaussian process regression, a non-parametric procedure that explicitly accounts for known phylogenetic relationships. We test the performance of methods on simulated, function-valued data generated from a stochastic evolutionary model. The methods are applied assuming that only the phylogeny, and the function-valued traits of taxa at its tips are known. Our method is robust and applicable to a wide range of function-valued data, and also offers a phylogenetically aware method for estimating the autocorrelation of function-valued traits. PMID:23427095

Hadjipantelis, Pantelis Z; Jones, Nick S; Moriarty, John; Springate, David A; Knight, Christopher G

2013-05-01

178

Social traits modulate attention to affiliative cues  

PubMed Central

Neurobehavioral models of personality suggest that the salience assigned to particular classes of stimuli vary as a function of traits that reflect both the activity of neurobiological encoding and relevant social experience. In turn, this joint influence modulates the extent that salience influences attentional processes, and hence learning about and responding to those stimuli. Applying this model to the domain of social valuation, we assessed the differential effects on attentional guidance by affiliative cues of (i) a higher-order temperament trait (Social Closeness), and (ii) attachment style in a sample of 57 women. Attention to affiliative pictures paired with either incentive or neutral pictures was assessed using camera eye-tracking. Trait social closeness and attachment avoidance interacted to modulate fixation frequency on affiliative but not on incentive pictures, suggesting that both traits influence the salience assigned to affiliative cues specifically.

Moore, Sarah R.; Fu, Yu; Depue, Richard A.

2014-01-01

179

Trait emotional intelligence and inflammatory diseases.  

PubMed

Researchers have become increasingly interested in the psychological aspects of inflammatory disorders. Within this line of research, the present study compares the trait emotional intelligence (trait EI) profiles of 827 individuals with various inflammatory conditions (rheumatoid arthritis [RA], ankylosing spondylitis, multiple sclerosis, and RA plus one comorbidity) against 496 healthy controls. Global trait EI scores did not show significant differences between these groups, although some differences were observed when comparisons were carried out against alternative control groups. Significant differences were found on the trait EI factors of Well-being (where the healthy group scored higher than the RA group) and Sociability (where the healthy group scored higher than both the RA group and the RA plus one comorbidity group). The discussion centers on the multifarious links and interplay between emotions and inflammatory conditions. PMID:23725416

Costa, Sebastiano; Petrides, K V; Tillmann, Taavi

2014-01-01

180

Integrating microbial traits into ecosystem models  

NASA Astrophysics Data System (ADS)

Diverse bacterial and fungal communities control the decomposition of complex organic material, thereby driving important ecosystem functions such as CO2 production and nutrient regeneration. Predicting these functions is challenging because microbial communities and the chemical substrates they metabolize are complex. To address this challenge, I developed a theoretical model of microbial decomposition based on microbial traits involved in substrate degradation, uptake, and growth. The model represents a large number of microbial taxa, each of which possesses a set of trait values drawn at random from empirically-based distributions. The model also includes a large number of chemical substrates that can be degraded by microbial extracellular enzymes and taken up by membrane transporters. Microbes with different trait values for enzyme production and uptake capacity compete for chemical substrates and vary in abundance during model runs. I used the model to predict rates of plant litter decomposition and determine which traits were associated with high microbial abundance under different environmental conditions. The model predicted that optimal traits depend on the level of enzyme production in the whole community, which determines resource availability and decomposition rates. There is also evidence for facilitation and competition among microbial taxa that co-occur on decomposing litter, suggesting that microbial interactions may play a role in determining ecosystem function. These interactions vary with community investment in extracellular enzyme production and the magnitude of tradeoffs affecting biochemical traits such as enzyme kinetic parameters. The model accounted for 69% of the variation in decomposition rates and up to 26% of the variation in enzyme activities in an empirical dataset with 15 types of Hawaiian plant litter. By explicitly representing microbial diversity, trait-based models can predict ecosystem processes based on functional trait distributions in a community. Traits influencing microbial enzyme production are some of the key controls on litter decomposition rates, but other traits may control different ecosystem processes and microbial responses to environmental change. Identifying these traits and their inter-relationships is an essential step for improving ecosystem models.

Allison, S. D.

2012-12-01

181

Comparison of the function of the beta(C) and beta(E) subunits of activin in AML12 hepatocytes.  

PubMed

To investigate the function of the beta(C) and beta(E) subunits of activin, we overexpressed these subunits in AML12 cells, a normal hepatocyte cell line, using adenovirus vector. Overexpression of the beta(C) subunit increased [3H]thymidine incorporation and the cell number. In contrast, both [3H]thymidine incorporation and the cell number were reduced in the beta(E) overexpressing cells. When AML cells overexpressing the beta(E) subunit were cultured in medium containing 1% serum for 48 h, many of the cells died by apoptosis, whereas cells overexpressing the beta(C) subunit or beta-galactosidase survived in the same condition. To examine dimer formation, the beta(C) and beta(E) subunits were expressed in AML12 cells. In these cells, the beta(C) homodimer, the beta(E) homodimer and the beta(C)-beta(E) heterodimer were detected. When the expression level of the beta(E) subunit was increased, formation of the beta(E) homodimer was increased, while formation of the beta(C)-beta(E) heterodimer was slightly reduced. Overexpression of the beta(E) subunit did not significantly affect the formation of the beta(C) homodimer. These results indicate that the beta(C) and beta(E) subunits form homo- and heterodimers, and that the functions of the two subunits are quite different. PMID:15863943

Wada, Wataru; Medina, Johan J; Kuwano, Hiroyuki; Kojima, Itaru

2005-04-01

182

Jojoba—Genetically controlled botanical traits  

Microsoft Academic Search

and summary  The discovery of correlations between botanical traits and wax quantity and quality in the seed would facilitate early detection\\u000a and elimination of undesirable genotypes in a jojoba breeding program. The traits studied were: (a) branching; upright, spherical,\\u000a and prostrate strains were found. (b) Leaf size; variability in mean leaf size is continuous ranging from 14×6 mm (long×short\\u000a leaf axis)

D. M. Yermanos

1977-01-01

183

Animal Models of Eating Disorder Traits  

Microsoft Academic Search

\\u000a Eating disorders, such as anorexia and bulimia nervosa, are psychiatric disorders that are likely determined by a complex\\u000a interaction between genetic variations, developmental processes, and certain life events. Cross-species analysis of traits\\u000a related to eating disorders may provide a way to functionally and systematically study neurobiological mechanisms underlying\\u000a these disorders. Interspecies trait genetics may offer opportunities to identify common neurobiological

Martien J. H. Kas; Roger A. H. Adan

184

Modeling the Genetic Architecture of Complex Traits With Molecular Markers  

Microsoft Academic Search

Understanding the genetic control of quantitatively inherited traits is fundamental to agricultural, evolutionary and biomedical genetic research. A detailed picture of the genetic architecture of quantitative traits can be elucidated with a well-saturated genetic map of molecular markers. The parameters that quantify the genetic architecture of a trait include the number of individual quantitative trait loci (QTL), their genomic positions,

Rongling Wu; Wei Hou; Yuehua Cui; Hongying Li; Tian Liu; Song Wu; Chang-Xing Ma; Yanru Zeng

2007-01-01

185

Transdiagnostic cognitive processes in high trait anger.  

PubMed

Trait anger is a personality construct that refers to stable individual differences in the propensity to experience anger as an emotional state. The objective of this paper is to review relevant empirical studies in order to determine whether the transdiagnostic cognitive processes that have been identified across the DSM-IV Axis I disorders (specifically, selective attention, memory biases, reasoning biases and recurrent negative thinking) are also an underlying characteristic of high trait anger. On the basis of the review it is concluded that, whilst the research base is limited, there is good evidence that high trait anger is associated with selective attention to hostile social cues, the tendency to interpret the behaviour of others as indicating potential hostility and the tendency to ruminate over past anger-provoking experiences. The range of cognitive processes identified in high trait anger is consistent with those identified in the Axis I disorders. It is concluded that these findings provide support for (i) the broad applicability of the transdiagnostic approach as a theoretical framework for understanding a range of psychological conditions, not limited to the Axis I disorders, and (ii) the validity of conceptualising high trait anger as an aspect of personality functioning that is maintained, at least in part, by cognitive processes. Cognitive and motivational factors (specifically, beliefs and goals) that may underlie the hostile information-processing biases and recurrent negative thinking associated with high trait anger are discussed, and consideration is given to the clinical relevance of the findings of the review. PMID:21094569

Owen, John M

2011-03-01

186

Statistical analysis of diversification with species traits.  

PubMed

Testing whether some species traits have a significant effect on diversification rates is central in the assessment of macroevolutionary theories. However, we still lack a powerful method to tackle this objective. I present a new method for the statistical analysis of diversification with species traits. The required data are observations of the traits on recent species, the phylogenetic tree of these species, and reconstructions of ancestral values of the traits. Several traits, either continuous or discrete, and in some cases their interactions, can be analyzed simultaneously. The parameters are estimated by the method of maximum likelihood. The statistical significance of the effects in a model can be tested with likelihood ratio tests. A simulation study showed that past random extinction events do not affect the Type I error rate of the tests, whereas statistical power is decreased, though some power is still kept if the effect of the simulated trait on speciation is strong. The use of the method is illustrated by the analysis of published data on primates. The analysis of these data showed that the apparent overall positive relationship between body mass and species diversity is actually an artifact due to a clade-specific effect. Within each clade the effect of body mass on speciation rate was in fact negative. The present method allows to take both effects (clade and body mass) into account simultaneously. PMID:15792222

Paradis, Emmanuel

2005-01-01

187

Matrix models for beta ensembles  

Microsoft Academic Search

This paper constructs tridiagonal random matrix models for general (beta>0) beta-Hermite (Gaussian) and beta-Laguerre (Wishart) ensembles. These generalize the well-known Gaussian and Wishart models for beta=1,2,4. Furthermore, in the cases of the beta-Laguerre ensembles, we eliminate the exponent quantization present in the previously known models. We further discuss applications for the new matrix models, and present some open problems.

Ioana Dumitriu; Alan Edelman

2002-01-01

188

Invasive Plants and Enemy Release: Evolution of Trait Means and Trait Correlations in Ulex europaeus  

PubMed Central

Several hypotheses that attempt to explain invasive processes are based on the fact that plants have been introduced without their natural enemies. Among them, the EICA (Evolution of Increased Competitive Ability) hypothesis is the most influential. It states that, due to enemy release, exotic plants evolve a shift in resource allocation from defence to reproduction or growth. In the native range of the invasive species Ulex europaeus, traits involved in reproduction and growth have been shown to be highly variable and genetically correlated. Thus, in order to explore the joint evolution of life history traits and susceptibility to seed predation in this species, we investigated changes in both trait means and trait correlations. To do so, we compared plants from native and invaded regions grown in a common garden. According to the expectations of the EICA hypothesis, we observed an increase in seedling height. However, there was little change in other trait means. By contrast, correlations exhibited a clear pattern: the correlations between life history traits and infestation rate by seed predators were always weaker in the invaded range than in the native range. In U. europaeus, the role of enemy release in shaping life history traits thus appeared to imply trait correlations rather than trait means. In the invaded regions studied, the correlations involving infestation rates and key life history traits such as flowering phenology, growth and pod density were reduced, enabling more independent evolution of these key traits and potentially facilitating local adaptation to a wide range of environments. These results led us to hypothesise that a relaxation of genetic correlations may be implied in the expansion of invasive species.

Hornoy, Benjamin; Tarayre, Michele; Herve, Maxime; Gigord, Luc; Atlan, Anne

2011-01-01

189

Trait stacking via targeted genome editing.  

PubMed

Modern agriculture demands crops carrying multiple traits. The current paradigm of randomly integrating and sorting independently segregating transgenes creates severe downstream breeding challenges. A versatile, generally applicable solution is hereby provided: the combination of high-efficiency targeted genome editing driven by engineered zinc finger nucleases (ZFNs) with modular 'trait landing pads' (TLPs) that allow 'mix-and-match', on-demand transgene integration and trait stacking in crop plants. We illustrate the utility of nuclease-driven TLP technology by applying it to the stacking of herbicide resistance traits. We first integrated into the maize genome an herbicide resistance gene, pat, flanked with a TLP (ZFN target sites and sequences homologous to incoming DNA) using WHISKERS™-mediated transformation of embryogenic suspension cultures. We established a method for targeted transgene integration based on microparticle bombardment of immature embryos and used it to deliver a second trait precisely into the TLP via cotransformation with a donor DNA containing a second herbicide resistance gene, aad1, flanked by sequences homologous to the integrated TLP along with a corresponding ZFN expression construct. Remarkably, up to 5% of the embryo-derived transgenic events integrated the aad1 transgene precisely at the TLP, that is, directly adjacent to the pat transgene. Importantly and consistent with the juxtaposition achieved via nuclease-driven TLP technology, both herbicide resistance traits cosegregated in subsequent generations, thereby demonstrating linkage of the two independently transformed transgenes. Because ZFN-mediated targeted transgene integration is becoming applicable across an increasing number of crop species, this work exemplifies a simple, facile and rapid approach to trait stacking. PMID:23953646

Ainley, William M; Sastry-Dent, Lakshmi; Welter, Mary E; Murray, Michael G; Zeitler, Bryan; Amora, Rainier; Corbin, David R; Miles, Rebecca R; Arnold, Nicole L; Strange, Tonya L; Simpson, Matthew A; Cao, Zehui; Carroll, Carley; Pawelczak, Katherine S; Blue, Ryan; West, Kim; Rowland, Lynn M; Perkins, Douglas; Samuel, Pon; Dewes, Cristie M; Shen, Liu; Sriram, Shreedharan; Evans, Steven L; Rebar, Edward J; Zhang, Lei; Gregory, Phillip D; Urnov, Fyodor D; Webb, Steven R; Petolino, Joseph F

2013-12-01

190

Spontaneous trait inference and construal level theory: Psychological distance increases nonconscious trait thinking  

Microsoft Academic Search

Can psychological distance affect how much perceivers form spontaneous trait inferences (STI) from others’ behaviors? On the basis of construal level theory (CLT) which posits that distant (vs. near) entities are represented more in terms of their abstract, global, and decontextualized features, we predicted that perceived distance would increase the tendency for perceivers to draw spontaneous trait inferences from behavioral

SoYon Rim; James S. Uleman; Yaacov Trope

2009-01-01

191

The Vertebrate Trait Ontology: a controlled vocabulary for the annotation of trait data across species  

PubMed Central

Background The use of ontologies to standardize biological data and facilitate comparisons among datasets has steadily grown as the complexity and amount of available data have increased. Despite the numerous ontologies available, one area currently lacking a robust ontology is the description of vertebrate traits. A trait is defined as any measurable or observable characteristic pertaining to an organism or any of its substructures. While there are several ontologies to describe entities and processes in phenotypes, diseases, and clinical measurements, one has not been developed for vertebrate traits; the Vertebrate Trait Ontology (VT) was created to fill this void. Description Significant inconsistencies in trait nomenclature exist in the literature, and additional difficulties arise when trait data are compared across species. The VT is a unified trait vocabulary created to aid in the transfer of data within and between species and to facilitate investigation of the genetic basis of traits. Trait information provides a valuable link between the measurements that are used to assess the trait, the phenotypes related to the traits, and the diseases associated with one or more phenotypes. Because multiple clinical and morphological measurements are often used to assess a single trait, and a single measurement can be used to assess multiple physiological processes, providing investigators with standardized annotations for trait data will allow them to investigate connections among these data types. Conclusions The annotation of genomic data with ontology terms provides unique opportunities for data mining and analysis. Links between data in disparate databases can be identified and explored, a strategy that is particularly useful for cross-species comparisons or in situations involving inconsistent terminology. The VT provides a common basis for the description of traits in multiple vertebrate species. It is being used in the Rat Genome Database and Animal QTL Database for annotation of QTL data for rat, cattle, chicken, swine, sheep, and rainbow trout, and in the Mouse Phenome Database to annotate strain characterization data. In these databases, data are also cross-referenced to applicable terms from other ontologies, providing additional avenues for data mining and analysis. The ontology is available at http://bioportal.bioontology.org/ontologies/50138.

2013-01-01

192

Multiple-trait mapping of quantitative trait loci after selective genotyping using logistic regression.  

PubMed Central

Experiments to map QTL usually measure several traits, and not uncommonly genotype only those animals that are extreme for some trait(s). Analysis of selectively genotyped, multiple-trait data presents special problems, and most simple methods lead to biased estimates of the QTL effects. The use of logistic regression to estimate QTL effects is described, where the genotype is treated as the dependent variable and the phenotype as the independent variable. In this way selection on phenotype does not bias the results. If normally distributed errors are assumed, the logistic-regression analysis is almost equivalent to a maximum-likelihood analysis, but can be carried out with standard statistical packages. Analysis of a simulated half-sib experiment shows that logistic regression can estimate the effect and position of a QTL without bias and confirms the increased power achieved by multiple-trait analysis.

Henshall, J M; Goddard, M E

1999-01-01

193

Sub-threshold autism traits: the role of trait emotional intelligence and cognitive flexibility.  

PubMed

Theory and research suggests that features of autism are not restricted to individuals diagnosed with autism spectrum disorders (ASDs), and that autism-like traits vary throughout the general population at lower severities. The present research first investigated the relationship of autism traits with trait emotional intelligence and empathy in a sample of 163 adults aged between 18 and 51 years (44% male). It then examined performance on a set of tasks assessing social cognition and cognitive flexibility in 69 participants with either high or low scores on ASD traits. Results confirm that there is pronounced variation within the general population relating to ASD traits, which reflect similar (though less severe) social-cognitive and emotional features to those observed in ASDs. PMID:24754807

Gökçen, Elif; Petrides, Konstantinos V; Hudry, Kristelle; Frederickson, Norah; Smillie, Luke D

2014-05-01

194

Animal reservoirs for extended spectrum beta-lactamase producers.  

PubMed

Food-producing animals are the primary reservoir of zoonotic pathogens, and the detection of extended spectrum beta-lactamase (ESBL) producers among Escherichia coli and Salmonella strains has increased in recent years. ESBLs are widely detected in various human medical institutions but they are not so frequently reported in the bacterial population circulating in animals. This could indicate that these enzymes are less prevalent in animals than in humans, but also that they have not been extensively sought. The increasing occurrence of ESBL producers in animals is highlighted and discussed in this review with respect to the circulation of these resistance traits also among human pathogens. PMID:18154535

Carattoli, A

2008-01-01

195

Multiple-interval mapping for quantitative trait loci controlling endosperm traits.  

PubMed Central

Endosperm traits are trisomic inheritant and are of great economic importance because they are usually directly related to grain quality. Mapping for quantitative trait loci (QTL) underlying endosperm traits can provide an efficient way to genetically improve grain quality. As the traditional QTL mapping methods (diploid methods) are usually designed for traits under diploid control, they are not the ideal approaches to map endosperm traits because they ignore the triploid nature of endosperm. In this article, a statistical method considering the triploid nature of endosperm (triploid method) is developed on the basis of multiple-interval mapping (MIM) to map for the underlying QTL. The proposed triploid MIM method is derived to broadly use the marker information either from only the maternal plants or from both the maternal plants and their embryos in the backcross and F2 populations for mapping endosperm traits. Due to the use of multiple intervals simultaneously to take multiple QTL into account, the triploid MIM method can provide better detection power and estimation precision, and as shown in this article it is capable of analyzing and searching for epistatic QTL directly as compared to the traditional diploid methods and current triploid methods using only one (or two) interval(s). Several important issues in endosperm trait mapping, such as the relation and differences between the diploid and triploid methods, variance components of genetic variation, and the problems if effects are present and ignored, are also addressed. Simulations are performed to further explore these issues, to investigate the relative efficiency of different experimental designs, and to evaluate the performance of the proposed and current methods in mapping endosperm traits. The MIM-based triploid method can provide a powerful tool to estimate the genetic architecture of endosperm traits and to assist the marker-assisted selection for the improvement of grain quality in crop science. The triploid MIM FORTRAN program for mapping endosperm traits is available on the worldwide web (http://www.stat.sinica.edu.tw/chkao/).

Kao, Chen-Hung

2004-01-01

196

Quantitative trait analysis in sequencing studies under trait-dependent sampling  

PubMed Central

It is not economically feasible to sequence all study subjects in a large cohort. A cost-effective strategy is to sequence only the subjects with the extreme values of a quantitative trait. In the National Heart, Lung, and Blood Institute Exome Sequencing Project, subjects with the highest or lowest values of body mass index, LDL, or blood pressure were selected for whole-exome sequencing. Failure to account for such trait-dependent sampling can cause severe inflation of type I error and substantial loss of power in quantitative trait analysis, especially when combining results from multiple studies with different selection criteria. We present valid and efficient statistical methods for association analysis of sequencing data under trait-dependent sampling. We pay special attention to gene-based analysis of rare variants. Our methods can be used to perform quantitative trait analysis not only for the trait that is used to select subjects for sequencing but for any other traits that are measured. For a particular trait of interest, our approach properly combines the association results from all studies with measurements of that trait. This meta-analysis is substantially more powerful than the analysis of any single study. By contrast, meta-analysis of standard linear regression results (ignoring trait-dependent sampling) can be less powerful than the analysis of a single study. The advantages of the proposed methods are demonstrated through simulation studies and the National Heart, Lung, and Blood Institute Exome Sequencing Project data. The methods are applicable to other types of genetic association studies and nongenetic studies.

Lin, Dan-Yu; Zeng, Donglin; Tang, Zheng-Zheng

2013-01-01

197

Beta in Streamers  

NASA Technical Reports Server (NTRS)

Streamers are generally described as regions of the corona in which the density is higher than in coronal holes because the plasma is trapped by closed loops of magnetic flux. In contrast, MHD models of the global corona show the plasma beta in streamers above siml.2R_S (heliocentric). There are three recent contributions to this topic. The first is that heating near the cusp further drives beta up and results in release of new slow solar wind plasma from the top of the streamer. The second is SOHO/UVCS observations, in combination with a potential field/source surface model of the magnetic field, that show beta above 1.2R_S in a streamer observed near solar sunspot minimum. The third is a magnetic field reconstruction technique that uses field deforming algorithms and is more versatile for local fields than potential field models . The field reconstruction algorithm was applied to an isolated active region (AR 7999) and to the Pneuman Kopp global MHD model (beta has never been published for their model). In the active region, beta becomes larger than unity at siml.2 R_S. In the Pneuman & Kopp model, beta at the base of the streamer and rises with increasing height, becoming 15-20 at 1.6R_S and 35- 50 at 1.7R_S. Global simulations go on to show that the reason streamers do not simply explode under such high beta conditions is that they are held down by pressure from the sides due to the magnetic fields (and low beta) in adjacent coronal holes. The main role of the closed magnetic loop near the cusp is to keep the steamer from continuously leaking plasma, as otherwise happens in a magnetic pinch which is similar but has no closed loops. Awareness of MHD physical conditions in streamers is causing us to focus more attention on the details of the heating. On obvious suggestion is that heating is at much lower heights in streamers than in coronal holes. Also, energy which is directly delivered as momentum in coronal holes might all be deposited as heat in streamers.

Suess, Steven T.; Gary, Gilmer A.; Nerney, S.

1998-01-01

198

Spatial mosaic evolution of snail defensive traits  

PubMed Central

Background Recent models suggest that escalating reciprocal selection among antagonistically interacting species is predicted to occur in areas of higher resource productivity. In a putatively coevolved interaction between a freshwater snail (Mexipyrgus churinceanus) and a molluscivorous cichlid (Herichthys minckleyi), we examined three components of this interaction: 1) spatial variation in two putative defensive traits, crushing resistance and shell pigmentation; 2) whether abiotic variables or frequency of molariform cichlids are associated with spatial patterns of crushing resistance and shell pigmentation and 3) whether variation in primary productivity accounted for small-scale variation in these defensive traits. Results Using spatial autocorrelation to account for genetic and geographic divergence among populations, we found no autocorrelation among populations at small geographic and genetic distances for the two defensive traits. There was also no correlation between abiotic variables (temperature and conductivity) and snail defensive traits. However, crushing resistance and frequency of pigmented shells were negatively correlated with molariform frequency. Crushing resistance and levels of pigmentation were significantly higher in habitats dominated by aquatic macrophytes, and both traits are phenotypically correlated. Conclusion Crushing resistance and pigmentation of M. churinceanus exhibit striking variation at small spatial scales often associated with differences in primary productivity, substrate coloration and the frequency of molariform cichlids. These local geographic differences may result from among-habitat variation in how resource productivity interacts to promote escalation in prey defenses.

Johnson, Steven G; Hulsey, C Darrin; de Leon, Francisco J Garcia

2007-01-01

199

Emotions shape memory suppression in trait anxiety.  

PubMed

The question that motivated this study was to investigate the relation between trait anxiety, emotions and memory control. To this aim, memory suppression was explored in high and low trait anxiety individuals with the Think/No-think paradigm. After learning associations between neutral words and emotional scenes (negative, positive, and neutral), participants were shown a word and were requested either to think about the associated scene or to block it out from mind. Finally, in a test phase, participants were again shown each word and asked to recall the paired scene. The results show that memory control is influenced by high trait anxiety and emotions. Low trait anxiety individuals showed a memory suppression effect, whereas there was a lack of memory suppression in high trait anxious individuals, especially for emotionally negative scenes. Thus, we suggest that individuals with anxiety may have difficulty exerting cognitive control over memories with a negative valence. These findings provide evidence that memory suppression can be impaired by anxiety thus highlighting the crucial relation between cognitive control, emotions, and individual differences in regulating emotions. PMID:24427152

Marzi, Tessa; Regina, Antonio; Righi, Stefania

2014-01-01

200

Emotions shape memory suppression in trait anxiety  

PubMed Central

The question that motivated this study was to investigate the relation between trait anxiety, emotions and memory control. To this aim, memory suppression was explored in high and low trait anxiety individuals with the Think/No-think paradigm. After learning associations between neutral words and emotional scenes (negative, positive, and neutral), participants were shown a word and were requested either to think about the associated scene or to block it out from mind. Finally, in a test phase, participants were again shown each word and asked to recall the paired scene. The results show that memory control is influenced by high trait anxiety and emotions. Low trait anxiety individuals showed a memory suppression effect, whereas there was a lack of memory suppression in high trait anxious individuals, especially for emotionally negative scenes. Thus, we suggest that individuals with anxiety may have difficulty exerting cognitive control over memories with a negative valence. These findings provide evidence that memory suppression can be impaired by anxiety thus highlighting the crucial relation between cognitive control, emotions, and individual differences in regulating emotions.

Marzi, Tessa; Regina, Antonio; Righi, Stefania

2014-01-01

201

Beta-peptidic peptidomimetics.  

PubMed

For more than a decade now, a search for answers to the following two questions has taken us on a new and exciting journey into the world of beta- and gamma-peptides: What happens if the oxygen atoms in a 3i-helix of a polymeric chain composed of (R)-3-hydroxybutanoic acid are replaced by NH units? What happens if one or two CH2 groups are introduced into each amino acid building block in the chain of a peptide or protein, thereby providing homologues of the proteinogenic alpha-amino acids? Our journey has repeatedly thrown up surprises, continually expanding the potential of these classes of compound and deepening our understanding of the structures, properties, and multifaceted functions of the natural "models" to which they are related. Beta-peptides differ from their natural counterparts, the alpha-peptides, by having CH2 groups inserted into every amino acid residue, either between the C=O groups and the alpha-carbon atoms (beta(3)) or between the alpha-carbon and nitrogen atoms (beta(2)). The synthesis of these homologated proteinogenic amino acids and their assembly into beta-peptides can be performed using known methods. Despite the increased number of possible conformers, the beta-peptides form secondary structures (helices, turns, sheets) even when the chain lengths are as short as four residues. Furthermore, they are stable toward degrading and metabolizing enzymes in living organisms. Linear, helical, and hairpin-type structures of beta-peptides can now be designed in such a way that they resemble the characteristic and activity-related structural features ("epitopes") of corresponding natural peptides or protein sections. This Account presents examples of beta-peptidic compounds binding, as agonists or antagonists (inhibitors), to (i) major histocompatibility complex (MHC) proteins (immune response), (ii) the lipid-transport protein SR-B1 (cholesterol uptake from the small intestine), (iii) the core (1-60) of interleukin-8 (inflammation), (iv) the oncoprotein RDM2, (v) the HIVgp41 fusion protein, (vi) G-protein-coupled somatostatin hsst receptors, (vii) the TNF immune response receptor CD40 (apoptosis), and (viii) DNA. Short-chain beta-peptides may be orally bioavailable and excreted from the body of mammals; long-chain beta-peptides may require intravenous administration but will have longer half-lives of clearance. It has been said that an interesting field of research distinguishes itself in that the results always throw up new questions; in this sense, the structural and biological investigation of beta-peptides has been a gold mine. We expect that these peptidic peptidomimetics will play an increasing role in biomedical research and drug development in the near future. PMID:18578513

Seebach, Dieter; Gardiner, James

2008-10-01

202

GROSS BETA PHOTON CALCULATOR  

EPA Science Inventory

The program facilitates fast & easy calculation of total annual dose from beta and photon emitters in water from pCi/l or Bq/cubic meter measurements. GBPcalc compares the total dose per year to the 4 mrem established as an MCL in the Radionuclides section of the Safe Drinking W...

203

Pleiotropy in complex traits: challenges and strategies  

PubMed Central

Genome-wide association studies have identified many variants that each affects multiple traits, particularly across autoimmune diseases, cancers and neuropsychiatric disorders, suggesting that pleiotropic effects on human complex traits may be widespread. However, systematic detection of such effects is challenging and requires new methodologies and frameworks for interpreting cross-phenotype results. In this Review, we discuss the evidence for pleiotropy in contemporary genetic mapping studies, new and established analytical approaches to identifying pleiotropic effects, sources of spurious cross-phenotype effects and study design considerations. We also outline the molecular and clinical implications of such findings and discuss future directions of research.

Solovieff, Nadia; Cotsapas, Chris; Lee, Phil H.; Purcell, Shaun M.; Smoller, Jordan W.

2014-01-01

204

Magic trait electric organ discharge (EOD)  

PubMed Central

A unique evolutionary specialization of African weakly electric fish (Mormyridae) is their ability to produce and perceive electric signals. Mormyrids use their electric organs discharge (EOD) for electrolocation and electrocommunication. Here we discuss the adaptive significance of the EOD in foraging (electric prey detection) in light of recent results demonstrating that mormyrid fish mate assortatively according to EOD waveform characteristics (electric mate choice). Therefore the EOD as a single trait pleiotropically combines natural divergent selection and reproductive isolation. Consequently we postulate the EOD as a “magic trait” promoting the diversification of African weakly electric fish.

Plath, Martin; Engelmann, Jacob; Kirschbaum, Frank; Tiedemann, Ralph

2009-01-01

205

A bivariate quantitative genetic model for a linear Gaussian trait and a survival trait.  

PubMed

With the increasing use of survival models in animal breeding to address the genetic aspects of mainly longevity of livestock but also disease traits, the need for methods to infer genetic correlations and to do multivariate evaluations of survival traits and other types of traits has become increasingly important. In this study we derived and implemented a bivariate quantitative genetic model for a linear Gaussian and a survival trait that are genetically and environmentally correlated. For the survival trait, we considered the Weibull log-normal animal frailty model. A Bayesian approach using Gibbs sampling was adopted. Model parameters were inferred from their marginal posterior distributions. The required fully conditional posterior distributions were derived and issues on implementation are discussed. The two Weibull baseline parameters were updated jointly using a Metropolis-Hasting step. The remaining model parameters with non-normalized fully conditional distributions were updated univariately using adaptive rejection sampling. Simulation results showed that the estimated marginal posterior distributions covered well and placed high density to the true parameter values used in the simulation of data. In conclusion, the proposed method allows inferring additive genetic and environmental correlations, and doing multivariate genetic evaluation of a linear Gaussian trait and a survival trait. PMID:16451791

Damgaard, Lars Holm; Korsgaard, Inge Riis

2006-01-01

206

A bivariate quantitative genetic model for a linear Gaussian trait and a survival trait  

PubMed Central

With the increasing use of survival models in animal breeding to address the genetic aspects of mainly longevity of livestock but also disease traits, the need for methods to infer genetic correlations and to do multivariate evaluations of survival traits and other types of traits has become increasingly important. In this study we derived and implemented a bivariate quantitative genetic model for a linear Gaussian and a survival trait that are genetically and environmentally correlated. For the survival trait, we considered the Weibull log-normal animal frailty model. A Bayesian approach using Gibbs sampling was adopted. Model parameters were inferred from their marginal posterior distributions. The required fully conditional posterior distributions were derived and issues on implementation are discussed. The two Weibull baseline parameters were updated jointly using a Metropolis-Hasting step. The remaining model parameters with non-normalized fully conditional distributions were updated univariately using adaptive rejection sampling. Simulation results showed that the estimated marginal posterior distributions covered well and placed high density to the true parameter values used in the simulation of data. In conclusion, the proposed method allows inferring additive genetic and environmental correlations, and doing multivariate genetic evaluation of a linear Gaussian trait and a survival trait.

Damgaard, Lars Holm; Korsgaard, Inge Riis

2006-01-01

207

Genetics Home Reference: Beta thalassemia  

MedlinePLUS

... cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots. Beta thalassemia is ...

208

ChemTeacher: Beta Decay  

NSDL National Science Digital Library

ChemTeacher compiles background information, videos, articles, demonstrations, worksheets and activities for high school teachers to use in their classrooms. The Beta Decay page includes resources for teaching students about the discovery and applications of beta decay.

2011-01-01

209

Peptide Inhibitors of Beta Lactamases.  

National Technical Information Service (NTIS)

Peptide inhibitors of beta-lactamases have been identified by the synthesis of peptide arrays using synthesis SPOT technology. These peptide inhibitors of beta-lactamase have activity against a broad spectrum of beta-lactamases and are useful in a variety...

T. Palzkill W. Huang

2005-01-01

210

Problems in Application of Latent Trait Models to Tailored Testing.  

National Technical Information Service (NTIS)

Computerized tailored testing procedures have been successfully applied in the past to the measurement of aptitude or ability. The latent trait models employed in these procedures make the basic assumption that the underlying latent trait being measured i...

W. R. Koch M. D. Reckase

1979-01-01

211

Model Selection in Binary Trait Locus Mapping  

PubMed Central

Quantitative trait locus (QTL) mapping methodology for continuous normally distributed traits is the subject of much attention in the literature. Binary trait locus (BTL) mapping in experimental populations has received much less attention. A binary trait by definition has only two possible values, and the penetrance parameter is restricted to values between zero and one. Due to this restriction, the infinitesimal model appears to come into play even when only a few loci are involved, making selection of an appropriate genetic model in BTL mapping challenging. We present a probability model for an arbitrary number of BTL and demonstrate that, given adequate sample sizes, the power for detecting loci is high under a wide range of genetic models, including most epistatic models. A novel model selection strategy based upon the underlying genetic map is employed for choosing the genetic model. We propose selecting the “best” marker from each linkage group, regardless of significance. This reduces the model space so that an efficient search for epistatic loci can be conducted without invoking stepwise model selection. This procedure can identify unlinked epistatic BTL, demonstrated by our simulations and the reanalysis of Oncorhynchus mykiss experimental data.

Coffman, Cynthia J.; Doerge, R. W.; Simonsen, Katy L.; Nichols, Krista M.; Duarte, Christine K.; Wolfinger, Russell D.; McIntyre, Lauren M.

2005-01-01

212

Computerized Adaptive Trait Measurement: Problems and Prospects.  

National Technical Information Service (NTIS)

This symposium consisted of four papers and the comments of two discussants. C. David Vale. Problem: Strategies of Branching through an Item Pool. This paper describes a variety of strategies for adapting tests to the trait level of each individual on the...

N. E. Betz J. R. McBride J. B. Sympson C. D. Vale R. D. Bock

1975-01-01

213

Genetic evaluation for beef carcass traits1  

Microsoft Academic Search

Industry movement toward alliances and grid pricing has led to increased interest in EPD for carcass traits. The literature suggests that carcass EPD can be used to select sires within a breed that can increase marbling score or tenderness without ad- versely affecting percentage retail product relative to the breed mean; however, the literature also suggests that using within breed

J. K. Bertrand; R. D. Green; W. O. Herring; D. W. Moser

214

Animal models of eating disorder traits.  

PubMed

Eating disorders, such as anorexia and bulimia nervosa, are psychiatric disorders that are likely determined by a complex interaction between genetic variations, developmental processes, and certain life events. Cross-species analysis of traits related to eating disorders may provide a way to functionally and systematically study neurobiological mechanisms underlying these disorders. Interspecies trait genetics may offer opportunities to identify common neurobiological mechanisms underlying eating disorder characteristics relevant to the initiation, progression, and/or maintenance of the disease, such as cognitive rigidity, increased anxiety levels, and behavioral hyperactivity. These can subsequently be tested directly by studying allelic variation in mice and human subjects and by applying methods that can modify gene expression levels in rodent models. Increasing our knowledge about these traits and their underlying neurobiological mechanisms will be relevant to develop new therapies for patients within the heterogeneous eating disorder populations. Novel mouse genetic and phenotyping tools offer a way to study these neurobehavioral traits under controlled environmental and genetic background conditions. PMID:21243478

Kas, Martien J H; Adan, Roger A H

2011-01-01

215

Five mandibular incisors: an autosomal recessive trait?  

Microsoft Academic Search

A fifth mandibular incisor is a eumorphic supernumerary tooth and has rarely been described in the medical literature. We report here a large Lebanese consanguineous family where four individuals displayed five incisors in the anterior mandible. Such familial observation has not been previously described. The possibility of an autosomal recessive inheritance for this nonsyndromic trait is discussed.

A Cassia; A Feki; A Megarbane; S El-Toum

2004-01-01

216

Multiple Interval Mapping for Quantitative Trait Loci  

Microsoft Academic Search

A new statistical method for mapping quantitative trait loci (QTL), called multiple interval mapping (MIM), is presented. It uses multiple marker intervals simultaneously to fit multiple putative QTL directly in the model for mapping QTL. The MIM model is based on Cockerham's model for interpreting genetic parameters and the method of maximum likelihood for estimating genetic parameters. With the MIM

Chen-Hung Kao; Zhao-Bang Zeng; Robert D. Teasdale

217

Empirical threshold values for quantitative trait mapping  

Microsoft Academic Search

The detection of genes that control quantitative characters is a problem of great interest to the genetic mapping community. Methods for locating these quantitative trait loci (QTL) relative to maps of genetic markers are now widely used. This paper addresses an issue common to all QTL mapping methods, that of determining an appropriate threshold value for declaring significant QTL effects.

G. A. Churchill; R. W. Doerge

1994-01-01

218

Precision mapping of quantitative trait loci  

Microsoft Academic Search

Adequate separation of effects of possible multiple linked quantitative trait loci (QTLs) on mapping QTLs is the key to increasing the precision of QTL mapping. A new method of QTL mapping is proposed and analyzed in this paper by combining interval mapping with multiple regression. The basis of the proposed method is an interval test in which the test statistic

Zhao-Bang Zeng

1994-01-01

219

Sexual colouration and sperm traits in guppies  

Microsoft Academic Search

The relationships among the area, hue, saturation and brightness of orange colouration and sperm traits in the guppy Poecilia reticulata were investigated. Males with greater areas of orange colouration had significantly larger sperm loads, more motile sperm and longer sperm relative to males with relatively little orange colouration. Males with greater areas of orange colouration did not possess more viable

T. E. Pitcher; F. H. Rodd; L. Rowe

2007-01-01

220

Perverse political correctness and personality traits.  

PubMed

Political correctness (PC) commonly refers to a mutual respect for the views and beliefs of others, including enemies, and while differing in opinions, the willfulness to overcome the existing disagreements, and to prevent animosity. To date however, the term PC is sometimes used in a perverted sense aimed for disintegration of solidarity in a society, thus giving birth to a new powerful conceptual tool, the perverse political correctness (PPC). PPC ideology resides in people with certain psychological types. We assume that there are basic psychological variations of personality traits and the mechanisms of their formation that promote not only insertion, but rapid distribution of modern PPC ideology. Although the dimension of their behavior is very similar, the personality traits of these persons can be divided into three groups: The subjects from the first group are characterized by general traits of one's personality, such as kindness, empathy, and humanism. This is true PC--an expression of proper humanistic personality traits, which are developed in a specific kind of environment. The subjects from second group are usually artistic, theatrical, vain and narcissistic, poseurs who need attention at any cost. Their views on life in general, as well as on questions of PC are characterized by colorfulness, picturesqueness and emotional satiety. The subjects from the third group, conjoined with the previous variety of demonstrative-theatrical PC, use mystical and religious contents as part of their propaganda of PPC activity. PMID:22070886

Neduva, Alexander; Kanevsky, Michael; Lerner, Vladimir

2012-01-01

221

Sickle Cell Trait and Scholastic Achievement  

ERIC Educational Resources Information Center

In a preliminary study, no significant interaction effects were found between scholastic achievement and sickle cell trait in black children currently in eight and ninth grades, as measured by the Iowa Tests of Basic Skills over a consecutive period of four years, 1968 through 1971, grades four through seven. (EH)

Jackson, Yvonne; Ayrer, James

1974-01-01

222

Characterizing psychopathy using DSM-5 personality traits.  

PubMed

Despite its importance historically and contemporarily, psychopathy is not recognized in the current Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revised (DSM-IV-TR). Its closest counterpart, antisocial personality disorder, includes strong representation of behavioral deviance symptoms but weak representation of affective-interpersonal features considered central to psychopathy. The current study evaluated the extent to which psychopathy and its distinctive facets, indexed by the Triarchic Psychopathy Measure, can be assessed effectively using traits from the dimensional model of personality pathology developed for DSM-5, operationalized by the Personality Inventory for DSM-5 (PID-5). Results indicate that (a) facets of psychopathy entailing impulsive externalization and callous aggression are well-represented by traits from the PID-5 considered relevant to antisocial personality disorder, and (b) the boldness facet of psychopathy can be effectively captured using additional PID-5 traits. These findings provide evidence that the dimensional model of personality pathology embodied in the PID-5 provides effective trait-based coverage of psychopathy and its facets. PMID:23620353

Strickland, Casey M; Drislane, Laura E; Lucy, Megan; Krueger, Robert F; Patrick, Christopher J

2013-06-01

223

Pitfalls of predicting complex traits from SNPs  

PubMed Central

The success of genome-wide association studies has led to increasing interest in making predictions of complex trait phenotypes including disease from genotype data. Rigorous assessment of the value of predictors is critical before implementation. Here we discuss some of the limitations and pitfalls of prediction analysis and show how naïve implementations can lead to severe bias and misinterpretation of results.

Wray, Naomi R.; Yang, Jian; Hayes, Ben J.; Price, Alkes L.; Goddard, Mike E.; Visscher, Peter M.

2014-01-01

224

Dissociative experiences, trait anxiety and paranormal beliefs  

Microsoft Academic Search

The relationship between dissociative experiences, trait-anxiety and paranormal beliefs among students was investigated. Significant gender differences were found; females scored higher than males on the Dissociative Experience Scale (DES) by Bernstein and Putnam (The Journal of Nervous and Mental Disease, 174, 727–735, 1986) and some subscales of the revised Paranormal Belief Scale by Tobacyk (A Revised Paranormal Belief Scale, unpublished

Uwe Wolfradt

1997-01-01

225

State and Trait Emotions in Delinquent Adolescents  

ERIC Educational Resources Information Center

Objective: To examine the structure of emotions and affective dysregulation in juvenile delinquents. Method: Fifty-six juvenile delinquents from a local juvenile hall and 169 subjects from a local high school were recruited for this study. All participants completed psychometric testing for trait emotions followed by measurements of state emotions…

Plattner, Belinda; Karnik, Niranjan; Jo, Booil; Hall, Rebecca E.; Schallauer, Astrid; Carrion, Victor; Feucht, Martha; Steiner, Hans

2007-01-01

226

Birth Order Positions and Personality Traits.  

ERIC Educational Resources Information Center

The growing concern for the development of teenagers has brought up issues regarding the role of the family system in shaping the personality traits of children. Alfred Adler (1870-1937), an Austrian psychiatrist who introduced the psychological/therapeutic model, "Individual Psychology," highlighted the importance of birth order positions in…

Tharbe, Ida Hartini Ahmad; Harun, Lily Mastura Hj.

227

Comparing Evolvability and Variability of Quantitative Traits  

Microsoft Academic Search

There are two distinct reasons for making comparisons of genetic variation for quantitative characters. The first is to compare evolvabilities, or ability to respond to selection, and the second is to make inferences about the forces that maintain genetic variability. Measures of variation that are standardized by the trait mean, such as the additive genetic coefficient of variation, are appropriate

David Houle

1992-01-01

228

What Causes Internalising Traits and Autistic Traits to Co-occur in Adolescence? A Community-Based Twin Study.  

PubMed

Autism shows a high degree of comorbidity with anxiety disorders. Adolescence is a time of increased stress and vulnerability to internalising problems. This study addresses for the first time the degree of genetic and environmental overlap between autistic traits (total measure and subscales) and internalising traits in a community-based adolescent twin sample. Parents of 12-14-year-old twins (N?=?3,232 pairs; 3,460 males, 3,004 females) reported on the twins' internalising and autistic traits. Autistic trait subscales were created using principal component analysis. Bivariate twin model-fitting was conducted. Autistic and internalising traits correlated moderately (r?=?0.30). Genetic influences on individual traits were substantial but genetic overlap between traits was moderate (genetic correlation: males?=?0.30, females?=?0.12). Shared environmental influences were low for internalising traits and moderate for autistic traits, and showed considerable overlap (shared environmental correlation: males?=?0.53, females?=?1). Nonshared environmental influences were moderate for internalising traits and low for autistic traits and showed low overlap. A multiple component solution was found for autistic traits and of the derived subscales, autistic-like 'Social Unease' showed the most phenotypic and genetic overlap with internalising traits. PMID:23975079

Scherff, Aline; Taylor, Mark; Eley, Thalia C; Happé, Francesca; Charman, Tony; Ronald, Angelica

2014-05-01

229

Sexually selected traits evolve positive allometry when some matings occur irrespective of the trait.  

PubMed

Positive allometry of secondary sexual traits (whereby larger individuals have disproportionally larger traits than smaller individuals) has been called one of the most pervasive and poorly understood regularities in the study of animal form and function. Its widespread occurrence is in contrast with theoretical predictions that it should evolve only under rather special circumstances. Using a combination of mathematical modeling and simulations, here we show that positive allometry is predicted to evolve under much broader conditions than previously recognized. This result hinges on the assumption that mating success is not necessarily zero for males with the lowest trait values: for example, a male who lacks horns or antlers might still be able to copulate if encountering an unguarded female. We predict the strongest positive allometry when males typically (but not always) compete in large groups, and when trait differences decisively determine the outcome of competitive interactions. PMID:24410284

Fromhage, Lutz; Kokko, Hanna

2014-05-01

230

Genetic properties of egg quality traits and their correlations with performance traits in Japanese quail.  

PubMed

1. Performance traits were measured on 1908 Japanese quail and egg quality traits assessed on 1800 eggs at 10 wk of age. 2. Genetic and phenotypic correlations were estimated using a bivariate animal model with restricted maximum likelihood using ASREML software. 3. Body weight at different ages showed positive genetic correlations with egg weight and most of the internal egg quality traits, whereas their genetic correlations with eggshell thickness, eggshell strength and eggshell percentage were negative. 4. Genetic correlations of age at sexual maturity and egg number with most of external and internal traits were negative. 5. It was concluded that selection for higher body weight will result in heavier and better quality eggs. Because of the negative genetic correlation between BW and egg shell quality, a selection index including BW and eggshell strength would be the best breeding strategy for genetic improvement of egg quality in Japanese quail. PMID:23281751

Lotfi, E; Zerehdaran, S; Raoufi, Z

2012-01-01

231

Measurement of $\\beta_s$ at CDF  

SciTech Connect

The latest results for the measurement of the CP violating phase {beta}{sub s} in B{sub s}{sup 0} {yields} J/{Psi}{phi} decays, from 5.2 fb{sup -1} integrated luminosity of CDF data are presented. For the first time, this measurement includes the contribution of B{sub s}{sup 0} {yields} J/{Psi}K{sup +}K{sup -} or B{sub s}{sup 0} {yields} J/{Psi}f{sub 0} events to the signal sample, where the f{sub 0} and non-resonant K{sup +}K{sup -} are S-wave states. Additional improvements to the analysis include more than doubling the signal sample, improved selection and particle ID, and fully calibrated flavour tagging for the full dataset. Additionally, the world's most precise single measurements of the B{sub s}{sup 0} lifetime, {tau}{sub s}, and width difference, {Delta}{Gamma}{sub s} are given.

Oakes, Louise; /Oxford U.

2011-02-01

232

Traits Contributing to the Autistic Spectrum  

PubMed Central

Background It is increasingly recognised that traits associated with autism reflect a spectrum with no clear boundary between typical and atypical behaviour. Dimensional traits are needed to investigate the broader autism phenotype. Methods and Principal Findings Ninety-three individual measures reflecting components of social, communication and repetitive behaviours characterising autistic spectrum disorder (ASD) were identified between the ages of 6 months and 9 years from the ALSPAC database. Using missing value imputation, data for 13,138 children were analysed. Factor analysis suggested the existence of 7 factors explaining 85% of the variance. The factors were labelled: verbal ability, language acquisition, social understanding, semantic-pragmatic skills, repetitive-stereotyped behaviour, articulation and social inhibition. Four factors (1, 3, 5 and 7) were specific to ASD being more strongly associated with this phenotype than other co-morbid conditions while other factors were more associated with learning difficulties and specific language impairment. Nevertheless, all 7 factors contributed independently to the explanation of ASD (p<0.001). Exploration of putative genetic causal factors such as variants in the CNTNAP2 gene showed a varying pattern of associations with these traits. An alternative predictive model of ASD was derived using four individual measures: the coherence subscale of the Children's Communication Checklist (9y), the Social and Communication Disorders Checklist (91 m), repetitive behaviour (69 m) and the sociability subscale of the Emotionality Activity and Sociability measure (38 m). Although univarably these traits performed better than some factors, their combined explanations of ASD were similar (R2?=?0.48). Conclusions and Significance These results support the fractional nature of ASD with different aetiological origins for these components despite pleiotropic genetic effects being observed. These traits are likely to be useful in the exploration of ASD.

Steer, Colin D.; Golding, Jean; Bolton, Patrick F.

2010-01-01

233

Genetic parameters for eggshell traits in ostriches.  

PubMed

1. A study was conducted on ~14000 ostrich eggs to estimate genetic parameters for eggshell traits that could benefit the hatchability of ostrich eggs. Traits measured included the number of pores on the eggshell, the average diameter of these pores, the total area of pores on the eggshell, permeability (pore area/shell thickness) and eggshell thickness. 2. Heritability estimates ranged from 0·16 for total pore area to 0·41 for the natural logarithm of pore count. The heritability estimates for water loss on 21 and 35 d (WL21 and WL35) of incubation were high at 0·23 and 0·24, respectively. 3. On a genetic level, pore count was negatively correlated with average pore diameter (-0·73) and shell thickness (-0·28), whereas it was positively correlated with total pore area (0·58), WL21 (0·24) and WL35 (0·34). The direct and maternal genetic correlations of pore count with total pore area (0·58) and permeability (0·59) were high and significant. Permeability was positively correlated to WL21 and WL35, both on the direct and maternal genetic levels. 4. The estimated genetic parameters indicate that it should be possible to select for the various eggshell traits in ostrich eggs, or for permeability and water loss. However, as a trait with an intermediate optimum, direct selection for permeability and other eggshell traits would not be straightforward, and the possible application of these results to improve hatchability of ostrich eggs in the future needs consideration. PMID:22978587

Brand, Z; Cloete, S W P; Malecki, I A; Brown, C R

2012-01-01

234

Thermophilic Beta-Glycosidase  

NASA Technical Reports Server (NTRS)

Report describes identification of thermophilic Beta-glycosidase enzyme from isolate of Sulfolobus solfataricus, sulfur-metabolizing archaebacteria growing aerobically and heterotrophically to relatively high cell yields. Enzyme useful in enzymatic conversion of cellulose to D-glucose and important in recycling of biomass. Used for removal of lactose from milk products. Offers promise as model substance for elucidation of basic principles of structural stabilization of proteins.

Grogan, Dennis W.

1992-01-01

235

Double Beta Decay Experiments  

NASA Astrophysics Data System (ADS)

At present, neutrinoless double beta decay is perhaps the only experiment that can tell us whether the neutrino is a Dirac or a Majorana particle. Given the significance of the 0???, there is a widespread interest for these rare event studies employing a variety of novel techniques. This paper describes the current status of DBD experiments. The Indian effort for an underground NDBD experiment at the upcoming INO laboratory is also presented.

Nanal, Vandana

2011-11-01

236

Magic Baseline Beta Beam  

SciTech Connect

We study the physics reach of an experiment where neutrinos produced in a beta-beam facility at CERN are observed in a large magnetized iron calorimeter (ICAL) at the India-based Neutrino Observatory (INO). The CERN-INO distance is close to the so-called ''magic'' baseline which helps evade some of the parameter degeneracies and allows for a better measurement of the neutrino mass hierarchy and {theta}{sub 13}.

Agarwalla, Sanjib Kumar; Choubey, Sandhya; Raychaudhuri, Amitava [Harish-Chandra Research Institute, Chhatnag Road, Jhusi, Allahabad--211019 (India)

2007-10-03

237

ICQ 2000a (beta)  

NSDL National Science Digital Library

The latest beta release of the universally popular instant messaging program ICQ ("I seek you") contains a number of new features, including a new interface, a quick launch bar, ICQmail, a new answering service, and the ability to work behind firewalls. With a separate download, ICQ will also support ten different languages. Additional changes include a redesigned preferences feature, help cards, and an improved privacy feature. Users can download ICQ 2000a at the ICQ site.

238

Congruency analysis of species ranking based on leaf traits: which traits are the more reliable?  

Microsoft Academic Search

Nine leaf traits (area, fresh weight, dry weight, volume, density, thickness, specific leaf area (SLA), dry matter content\\u000a (LDMC), leaf nitrogen content (LNC)) from ten plant species at eight sites in southern mediterranean France were investigated\\u000a in order to assess their variability along a climatic gradient and their ranking congruency power. After examination of trait\\u000a correlation patterns, we reduced the

Philip Roche; Natalia Díaz-Burlinson; Sophie Gachet

2004-01-01

239

Influence of effects on quality traits and relationships between traits of the llama fleece  

Microsoft Academic Search

Differences owing to age, sex and coat color on fleece traits, and relationships between traits, were investigated in fiber samples of llama fleece. Fiber samples were obtained from five fleece regions of 143 llamas: withers; shoulder; ribs; loin-rump and thigh. The fleece composition was heterogenous and consisted of different proportions of unmedullated (20.2%), fragmented med (36.7%), continuous med (39.4%), and

Z. Martinez; L. C. Iniguez; T. Rodríguez

1997-01-01

240

Quantitative trait loci for yield and related traits in the wheat population Ning7840 × Clark  

Microsoft Academic Search

Grain yield and associated agronomic traits are important factors in wheat (Triticum aestivum L.) improvement. Knowledge regarding the number, genomic location, and effect of quantitative trait loci (QTL) would facilitate\\u000a marker-assisted selection and the development of cultivars with desirable characteristics. Our objectives were to identify\\u000a QTLs directly and indirectly affecting grain yield expression. A population of 132 F12 recombinant inbred

F. Marza; G.-H. Bai; B. F. Carver; W.-C. Zhou

2006-01-01

241

A STUDY OF THE CARCASS TRAITS OF DIFFERENT RABBIT GENOTYPES  

Microsoft Academic Search

The aim of this experiment was to study the carcass traits of rabbits when the same maternal stocks were mated with bucks of two well-known hybrids selected for growth traits or with Pannon White bucks selected for carcass traits by CT (computerised tomography). Three experiments were carried out at the same time. Experiment 1: Pannon White (P) or Hycole terminal

Metzger Sz

242

Latent Trait Models in the Study of Intelligence.  

ERIC Educational Resources Information Center

This article examines the potential contribution of latent trait models to the study of intelligence. Nontechnical introductions to both unidimensional and multidimensional latent trait models are given. Multidimensional latent trait models can be used to test alternative multiple component theories of test item processing. (Author/CTM)

Whitely, Susan E.

1980-01-01

243

Comparative Methods for Studying Cultural Trait Evolution: A Simulation Study  

Microsoft Academic Search

Anthropologists and archaeologists increasingly use phylogenetic methods to test hypotheses involving cross-cultural traits, but the appropriateness of applying tree-based methods to analyze cultural traits is unclear. The authors developed a spatially explicit computer simulation model to investigate trait evolution in relation to phylogeny and geography and used the simulation to assess the sensitivity of two comparative methods (independent contrasts and

Charles L. Nunn; Monique Borgerhoff Mulder; Sasha Langley

2006-01-01

244

Generality of Leaf Trait Relationships: A Test across Six Biomes  

Microsoft Academic Search

Convergence in interspecific leaf trait relationships across diverse taxonomic groups and biomes would have important evolutionary and ecological implications. Such convergence has been hypothesized to result from trade-offs that limit the combination of plant traits for any species. Here we address this issue by testing for biome differences in the slope and intercept of interspecific relationships among leaf traits: longevity,

Peter B. Reich; David S. Ellsworth; Michael B. Walters; James M. Vose; Charles Gresham; John C. Volin; William D. Bowman

1999-01-01

245

ANXIETY, DEPRESSION AND TRAITS OF PERSONALITY IN COPD PATIENTS  

Microsoft Academic Search

The present research was performed in order to describe the state-trait anxiety frequencies and the prevalence of depression in COPD patients. Data on psychological evaluation were obtained from The Human Figure Drawing (personality traits), Beck Depression Inventory (BID) and Trait-State Anxiety Inventory. Data on disease status was obtained through the Pulmonary Function Test (spirometry), Arterial Blood Gases measures, Borg Dyspnea

Camila B. de Souza; Sonia Cendon; Leny Cavalhero; Miguel Bogossian

2003-01-01

246

Short-Term Stability of Psychopathic Traits in Adolescent Offenders  

Microsoft Academic Search

There is considerable debate about the assessment of psychopathic traits in adolescence due in part to questions regarding the stability of traits. We investigated the 6-month stability of psychopathic traits in a sample of 83 male adolescent offenders using an augmented protocol for the Psychopathy Checklist: Youth Version and the self-report Antisocial Process Screening Device. Findings suggested moderate to high

Zina Lee; Jessica R. Klaver; Stephen D. Hart; Marlene M. Moretti; Kevin S. Douglas

2009-01-01

247

Skills Diagnosis Using IRT-Based Continuous Latent Trait Models  

ERIC Educational Resources Information Center

This article summarizes the continuous latent trait IRT approach to skills diagnosis as particularized by a representative variety of continuous latent trait models using item response functions (IRFs). First, several basic IRT-based continuous latent trait approaches are presented in some detail. Then a brief summary of estimation, model…

Stout, William

2007-01-01

248

An Investigation of Personality Traits in Relation to Career Satisfaction.  

ERIC Educational Resources Information Center

Personality traits related to career satisfaction for 5,932 individuals were measured for the group and in 14 occupations. Traits related to satisfaction across occupations were emotional resilience, optimism, and work drive. The Big Five traits of conscientiousness, extraversion, and openness were also correlated with career satisfaction.…

Lounsbury, John W.; Loveland, James M.; Sundstrom, Eric D.; Gibson, Lucy W.; Drost, Adam W.; Hamrick, Frances L.

2003-01-01

249

Short-Term Stability of Psychopathic Traits in Adolescent Offenders  

ERIC Educational Resources Information Center

There is considerable debate about the assessment of psychopathic traits in adolescence due in part to questions regarding the stability of traits. We investigated the 6-month stability of psychopathic traits in a sample of 83 male adolescent offenders using an augmented protocol for the Psychopathy Checklist: Youth Version and the self-report…

Lee, Zina; Klaver, Jessica R.; Hart, Stephen D.; Moretti, Marlene M.; Douglas, Kevin S.

2009-01-01

250

Non-pollinator agents of selection on floral traits  

Microsoft Academic Search

Despite the dominating role of pollinators in floral evolution, mounting evidence reveals significant additional, often antagonistic, influences of abiotic and biotic non-pollinator agents. Even when pollinators and other agents impose selection on floral traits in the same direction, the role of other agents is fre- quently overlooked. Maintenance of genetic variation in floral traits and divergence from trait optima for

Sharon Y. Strauss; Justen B. Whittall

251

Variation, selection and evolution of function-valued traits  

Microsoft Academic Search

We describe an emerging framework for understanding variation, selection and evolution of phenotypic traits that are mathematical functions. We use one specific empirical example – thermal performance curves (TPCs) for growth rates of caterpillars – to demonstrate how models for function-valued traits are natural extensions of more familiar, multivariate models for correlated, quantitative traits. We emphasize three main points. First,

Joel G. Kingsolver; Richard Gomulkiewicz; Patrick A. Carter

2001-01-01

252

Variation, selection and evolution of function-valued traits  

Microsoft Academic Search

We describe an emerging framework for understanding variation, selection and evolution of phenotypic traits that are mathematical functions. We use one specific empirical example - thermal performance curves (TPCs) for growth rates of caterpillars - to demonstrate how models for function-valued traits are natural extensions of more familiar, multivariate models for correlated, quantitative traits. We emphasize three main points. First,

Joel G. Kingsolver; Richard Gomulkiewicz; Patrick A. Carter

2001-01-01

253

Leaf traits within communities: context may affect the mapping of traits to function.  

PubMed

The leaf economics spectrum (LES) has revolutionized the way many ecologists think about quantifying plant ecological trade-offs. In particular, the LES has connected a clear functional trade-off (long-lived leaves with slow carbon capture vs. short-lived leaves with fast carbon capture) to a handful of easily measured leaf traits. Building on this work, community ecologists are now able to quickly assess species carbon-capture strategies, which may have implications for community-level patterns such as competition or succession. However, there are a number of steps in this logic that require careful examination, and a potential danger arises when interpreting leaf-trait variation among species within communities where trait relationships are weak. Using data from 22 diverse communities, we show that relationships among three common functional traits (photosynthetic rate, leaf nitrogen concentration per mass, leaf mass per area) are weak in communities with low variation in leaf life span (LLS), especially communities dominated by herbaceous or deciduous woody species. However, globally there are few LLS data sets for communities dominated by herbaceous or deciduous species, and more data are needed to confirm this pattern. The context-dependent nature of trait relationships at the community level suggests that leaf-trait variation within communities, especially those dominated by herbaceous and deciduous woody species, should be interpreted with caution. PMID:24279259

Funk, Jennifer L; Cornwell, William K

2013-09-01

254

Genetic mapping of quantitative trait loci affecting growth and carcass traits in F2 intercross chickens.  

PubMed

We constructed a chicken F(2) resource population to facilitate the genetic improvement of economically important traits, particularly growth and carcass traits. An F(2) population comprising 240 chickens obtained by crossing a Shamo (lean, lightweight Japanese native breed) male and White Plymouth Rock breed (fat, heavyweight broiler) females was measured for BW, carcass weight (CW), abdominal fat weight (AFW), breast muscle weight (BMW), and thigh muscle weight (TMW) and was used for genome-wide linkage and QTL analysis, using a total of 240 microsatellite markers. A total of 14 QTL were detected at a 5% chromosome-wide level, and 7 QTL were significant at a 5% experiment-wide level for the traits evaluated in the F(2) population. For growth traits, significant and suggestive QTL affecting BW (measured at 6 and 9 wk) and average daily gain were identified on similar regions of chromosomes 1 and 3. For carcass traits, the QTL effects on CW were detected on chromosomes 1 and 3, with the greatest F-ratio of 15.0 being obtained for CW on chromosome 3. Quantitative trait loci positions affecting BMW and TMW were not detected at the same loci as those detected for BMW percentage of CW and TMW percentage of CW. For AFW, QTL positions were detected at the same loci as those detected for AFW percentage of CW. The present study identified significant QTL affecting BW, CW, and AFW. PMID:19211515

Uemoto, Y; Sato, S; Odawara, S; Nokata, H; Oyamada, Y; Taguchi, Y; Yanai, S; Sasaki, O; Takahashi, H; Nirasawa, K; Kobayashi, E

2009-03-01

255

Quantitative trait loci linked to PRNP gene controlling health and production traits in INRA 401 sheep.  

PubMed

In this study, the potential association of PrP genotypes with health and productive traits was investigated. Data were recorded on animals of the INRA 401 breed from the Bourges-La Sapinière INRA experimental farm. The population consisted of 30 rams and 852 ewes, which produced 1310 lambs. The animals were categorized into three PrP genotype classes: ARR homozygous, ARR heterozygous, and animals without any ARR allele. Two analyses differing in the approach considered were carried out. Firstly, the potential association of the PrP genotype with disease (Salmonella resistance) and production (wool and carcass) traits was studied. The data used included 1042, 1043 and 1013 genotyped animals for the Salmonella resistance, wool and carcass traits, respectively. The different traits were analyzed using an animal model, where the PrP genotype effect was included as a fixed effect. Association analyses do not indicate any evidence of an effect of PrP genotypes on traits studied in this breed. Secondly, a quantitative trait loci (QTL) detection approach using the PRNP gene as a marker was applied on ovine chromosome 13. Interval mapping was used. Evidence for one QTL affecting mean fiber diameter was found at 25 cM from the PRNP gene. However, a linkage between PRNP and this QTL does not imply unfavorable linkage disequilibrium for PRNP selection purposes. PMID:17612481

Vitezica, Zulma G; Moreno, Carole R; Lantier, Frederic; Lantier, Isabelle; Schibler, Laurent; Roig, Anne; François, Dominique; Bouix, Jacques; Allain, Daniel; Brunel, Jean-Claude; Barillet, Francis; Elsen, Jean-Michel

2007-01-01

256

Fates beyond traits: ecological consequences of human-induced trait change  

PubMed Central

Human-induced trait change has been documented in freshwater, marine, and terrestrial ecosystems worldwide. These trait changes are driven by phenotypic plasticity and contemporary evolution. While efforts to manage human-induced trait change are beginning to receive some attention, managing its ecological consequences has received virtually none. Recent work suggests that contemporary trait change can have important effects on the dynamics of populations, communities, and ecosystems. Therefore, trait changes caused by human activity may be shaping ecological dynamics on a global scale. We present evidence for important ecological effects associated with human-induced trait change in a variety of study systems. These effects can occur over large spatial scales and impact system-wide processes such as trophic cascades. Importantly, the magnitude of these effects can be on par with those of traditional ecological drivers such as species presence. However, phenotypic change is not always an agent of ecological change; it can also buffer ecosystems against change. Determining the conditions under which phenotypic change may promote vs prevent ecological change should be a top research priority.

Palkovacs, Eric P; Kinnison, Michael T; Correa, Cristian; Dalton, Christopher M; Hendry, Andrew P

2012-01-01

257

Epigenetics meets metabolomics: an epigenome-wide association study with blood serum metabolic traits.  

PubMed

Previously, we reported strong influences of genetic variants on metabolic phenotypes, some of them with clinical relevance. Here, we hypothesize that DNA methylation may have an important and potentially independent effect on human metabolism. To test this hypothesis, we conducted what is to the best of our knowledge the first epigenome-wide association study (EWAS) between DNA methylation and metabolic traits (metabotypes) in human blood. We assess 649 blood metabolic traits from 1814 participants of the Kooperative Gesundheitsforschung in der Region Augsburg (KORA) population study for association with methylation of 457 004 CpG sites, determined on the Infinium HumanMethylation450 BeadChip platform. Using the EWAS approach, we identified two types of methylome-metabotype associations. One type is driven by an underlying genetic effect; the other type is independent of genetic variation and potentially driven by common environmental and life-style-dependent factors. We report eight CpG loci at genome-wide significance that have a genetic variant as confounder (P = 3.9 × 10(-20) to 2.0 × 10(-108), r(2) = 0.036 to 0.221). Seven loci display CpG site-specific associations to metabotypes, but do not exhibit any underlying genetic signals (P = 9.2 × 10(-14) to 2.7 × 10(-27), r(2) = 0.008 to 0.107). We further identify several groups of CpG loci that associate with a same metabotype, such as 4-vinylphenol sulfate and 4-androsten-3-beta,17-beta-diol disulfate. In these cases, the association between CpG-methylation and metabotype is likely the result of a common external environmental factor, including smoking. Our study shows that analysis of EWAS with large numbers of metabolic traits in large population cohorts are, in principle, feasible. Taken together, our data suggest that DNA methylation plays an important role in regulating human metabolism. PMID:24014485

Petersen, Ann-Kristin; Zeilinger, Sonja; Kastenmüller, Gabi; Römisch-Margl, Werner; Brugger, Markus; Peters, Annette; Meisinger, Christine; Strauch, Konstantin; Hengstenberg, Christian; Pagel, Philipp; Huber, Fritz; Mohney, Robert P; Grallert, Harald; Illig, Thomas; Adamski, Jerzy; Waldenberger, Melanie; Gieger, Christian; Suhre, Karsten

2014-01-15

258

Heterosis for horticultural traits in broccoli.  

PubMed

Over the last three decades, broccoli (Brassica oleracea L., Italica Group) hybrids made by crossing two inbred lines replaced open-pollinated populations to become the predominant type of cultivar. The change to hybrids evolved with little or no understanding of heterosis or hybrid vigor in this crop. Therefore, the purpose of the present study was to determine levels of heterosis expressed by a set of hybrids derived by crossing relatively elite, modern inbreds (n = 9). An additional objective was to determine if PCR-based marker derived genetic similarities among the parents can be useful to predict heterosis in this crop. Thirty-six hybrids derived from a diallel mating design involving nine parents were evaluated for five horticultural characters including the head characteristics of head weight, head stem diameter, and maturity (e.g., days from transplant to harvest), and the plant vigor characteristics of plant height, and plant width in four environments. A total of 409 polymorphic markers were generated by 24 AFLP, 23 SRAP and 17 SSR primer combinations. Euclidean distances between parents were determined based on phenotypic traits. About half of the hybrids exhibited highparent heterosis for head weight (1-30 g) and stem diameter (0.2-3.5 cm) when averaged across environments. Almost all hybrids showed highparent heterosis for plant height (1-10 cm) and width (2-13 cm). Unlike other traits, there was negative heterosis for maturity, indicating that heterosis for this character in hybrids is expressed as earliness. Genetic similarity estimates among the nine parental lines ranged from 0.43 to 0.71 and were significantly and negatively correlated with highparent heterosis for all traits except for stem diameter and days from transplant to harvest. Euclidean distances were not correlated with heterosis. With modern broccoli inbreds, less heterosis was observed for head characteristics than for traits that measured plant vigor. In addition, genetic similarity based on molecular markers was more highly correlated with plant vigor characteristics than head traits. Unlike with molecular marker-based estimates of genetic similarity, euclidean distance determined using phenotypic trait data was not predictive of heterosis. In conclusion, this study has documented heterosis in Brassica oleracea L., and the ability to predict heterosis in this crop using molecular marker-based estimates of genetic similarity among parents used in producing the hybrid. PMID:17554519

Hale, Anna L; Farnham, Mark W; Nzaramba, M Ndambe; Kimbeng, Collins A

2007-08-01

259

Spontaneous trait inferences are bound to actors' faces: Evidence from a false recognition paradigm  

Microsoft Academic Search

A false recognition paradigm showed that spontaneous trait inferences (STIs) are bound to the person performing a trait-implying behavior. In 6 experiments, participants memorized faces and behavioral sentences. When faces were paired with implied traits in a recognition test, participants falsely recog- nized these traits more often than unrelated traits paired with the same faces or the same traits paired

Alexander Todorov; James S. Uleman

2002-01-01

260

The key ingredients of personality traits: situations, behaviors, and explanations.  

PubMed

The trait and social cognitive perspectives are considered disparate approaches to understanding personality. We suggest an integrative view in which three elements derived from the social cognitive perspective (i.e., situations, behaviors, and explanations [SBEs]) form the basis of personality traits. Study 1 demonstrated strong associations between traits and SBEs across the Big Five dimensions. Studies 2 through 7 tested the discriminative validity, internal structure, and unique contributions of the individual components of SBEs. Studies 8 and 9 demonstrated that the strong associations between traits and SBEs generalize to different cultures. The present work suggests that SBEs may be a universal folk psychological mechanism underlying personality traits. PMID:24072753

Yang, Yu; Read, Stephen J; Denson, Thomas F; Xu, Yiyuan; Zhang, Jin; Pedersen, William C

2014-01-01

261

Prevalence and profile of obsessive-compulsive trait in patients with chronic migraine and medication overuse.  

PubMed

Patients with chronic migraine (CM) and medication overuse headache (MOH) have high frequency of psychiatric comorbidity or psychopathological traits, the presence of which can influence the clinical course. The presence of subclinical obsessive compulsive disorder (OCD) is underestimated in migraine patients. The aim of this study was to estimate the prevalence and profile of obsessive-compulsive (OBS) trait in a sample of CM patients with MOH using the OBS questionnaire of Spectrum Collaborative Project. According to the new international classification of headache disorders (ICHD-III beta) criteria, 106 patients (15 M, 91 F, mean age 47.3 years) were selected in a consecutive clinical series. Our results showed that 36 % of patients with CM and MOH were positive at OBS-questionnaire. As far as the profile of OBS trait, we performed an evaluation of prevalence of items separating the first part of the questionnaire (childhood/adolescence and doubts in lifetime) from the other five domains: 21 % of the patients showed prevalence of items in childhood/adolescence domain; 79 % in doubts in lifetime domain; as for other five domains, 10.5 % of patients had prevalence of pathological answers among hypercontrol, 5.2 % in spending time, 23.7 % in perfectionism, 29 % in repetition and automation, and 31.5 % in specific themes (obsessive thoughts). The presence of subclinical OCD in migraine patients, and the link between progression to CM, particularly through MO, and OBS trait is still not well defined. The use of specific tools to assess this possible comorbidity should be encouraged in clinical and research settings. PMID:24867863

Curone, M; Tullo, V; Lovati, C; Proietti-Cecchini, A; D'Amico, D

2014-05-01

262

QTL analysis of floral traits in Louisiana iris hybrids.  

PubMed

The formation of hybrid zones between nascent species is a widespread phenomenon. The evolutionary consequences of hybridization are influenced by numerous factors, including the action of natural selection on quantitative trait variation. Here we examine how the genetic basis of floral traits of two species of Louisiana Irises affects the extent of quantitative trait variation in their hybrids. Quantitative trait locus (QTL) mapping was used to assess the size (magnitude) of phenotypic effects of individual QTL, the degree to which QTL for different floral traits are colocalized, and the occurrence of mixed QTL effects. These aspects of quantitative genetic variation would be expected to influence (1) the number of genetic steps (in terms of QTL substitutions) separating the parental species phenotypes; (2) trait correlations; and (3) the potential for transgressive segregation in hybrid populations. Results indicate that some Louisiana Iris floral trait QTL have large effects and QTL for different traits tend to colocalize. Transgressive variation was observed for six of nine traits, despite the fact that mixed QTL effects influence few traits. Overall, our QTL results imply that the genetic basis of floral morphology and color traits might facilitate the maintenance of phenotypic divergence between Iris fulva and Iris brevicaulis, although a great deal of phenotypic variation was observed among hybrids. PMID:17725637

Bouck, Amy; Wessler, Susan R; Arnold, Michael L

2007-10-01

263

The neurobiology of psychopathic traits in youths.  

PubMed

Conduct disorder is a childhood behaviour disorder that is characterized by persistent aggressive or antisocial behaviour that disrupts the child's environment and impairs his or her functioning. A proportion of children with conduct disorder have psychopathic traits. Psychopathic traits consist of a callous-unemotional component and an impulsive-antisocial component, which are associated with two core impairments. The first is a reduced empathic response to the distress of other individuals, which primarily reflects reduced amygdala responsiveness to distress cues; the second is deficits in decision making and in reinforcement learning, which reflects dysfunction in the ventromedial prefrontal cortex and striatum. Genetic and prenatal factors contribute to the abnormal development of these neural systems, and social-environmental variables that affect motivation influence the probability that antisocial behaviour will be subsequently displayed. PMID:24105343

Blair, R James R

2013-11-01

264

Human Genetics and the Dominant Trait  

NSDL National Science Digital Library

The Center for Innovation in Engineering and Science Education presents a series of activities dealing with human genetics and dominant traits. In this activity, students can make theories and then test those predictions concerning genetics and dominant inherited traits by using a very small sample - classroom peers - and then modeling their collected information on a worldwide project. By using a small sample, the worldwide survey and reading of information becomes real for the student, while providing the information of a larger sample to compare with the students' conclusions. The activity includes detailed instructions for the activity, course objectives, potential problem areas, and a guide to assessment of information collected. This website could be useful for teachers planning lessons or for students designing projects based on class work and class material.

Koen, Joshua

2007-10-31

265

Enhanced attentional capture in trait anxiety.  

PubMed

Attentional Control Theory (ACT) proposes that anxiety is specifically associated with more attentional distraction by salient stimuli. Moreover, there is some suggestion that worry is one mechanism whereby anxiety impairs attentional control. However, direct evidence for these hypotheses is lacking. In the current study we addressed limitations of previous work by examining the relationships between trait anxiety and worry and attentional distraction by a salient, task-irrelevant color singleton in a visual search task. Results revealed that trait anxiety, but not worry, was related to increased attentional distraction (i.e., capture) by the color singleton. The current results suggest that anxiety is associated with a general enhancement of bottom-up processes involved in motivational significance detection. (PsycINFO Database Record (c) 2012 APA, all rights reserved). PMID:22059521

Moser, Jason S; Becker, Mark W; Moran, Tim P

2012-04-01

266

Temperamental traits associated with conversion disorder.  

PubMed

The aim of this study was to analyze the temperamental traits associated with conversion disorder in children. Thirty children with conversion disorder attending a child guidance clinic were compared with an age and sex matched control group of normal children for life stresses and temperament dimensions. The temperament measurement schedule (TMS) and the life event scale for Indian children (LESIC) were used for evaluating the temperament dimensions and life stresses respectively. Children with conversion disorder experienced significantly more stressful life events compared to the children in the control group. The stress factors included scholastic difficulties, examination failures, punishment by teacher, conflict with peers, parental disharmony and family problems and sibling rivalry. The characteristic temperamental traits associated with conversion disorder were low emotionality and low threshold of responsiveness. PMID:17079833

Krishnakumar, P; Sumesh, P; Mathews, Lulu

2006-10-01

267

Neutron Induced Beta Radiography  

SciTech Connect

In the present paper we give a new methodology named, 'neutron induced beta radiography-NIBR' which makes use of neutron activated Dy or In foils as source of (3-radiation. Radiographs are obtained with an aluminium cassette containing image plate, a sample under inspection and the activated Dy or In foil kept in tight contact. The sensitivity of the technique to thickness was evaluated for different materials in the form of step wedges. Some radiographs are presented to demonstrate potential of method to inspect thin samples.

Shaikh, A. M.; Shylaja, D. [Solid State Physics Division, Bhabha Atomic Research Centre, Mumbai 400085 (India)

2011-07-15

268

Double beta decay  

NASA Astrophysics Data System (ADS)

Double beta decay is a rare nuclear process changing the nuclear charge by two units leaving atomic number unchanged. The detection of the neutrino accompanied mode (A,Z)-->(A,Z+2)+2e-+ with half-lives around 1020 years is among the rarest decays ever observed. Of outmost importance for particle physics and especially neutrino physics, is the neutrinoless mode (A,Z)-->(A,Z+2)+2e-. This process is violating lepton number by two units and requires massive Majorana neutrinos, i.e. neutrino and antineutrino are identical. The current experimental status is reviewed and an outlook towards future activities is given.

Zuber, K.

2004-06-01

269

Forgivingness, Vengeful Rumination, and Affective Traits  

Microsoft Academic Search

ABSTRACT Trait forgivingness is the disposition to forgive interper- sonal transgressions over time and across situations. We define forgive- ness as the replacement of negative unforgiving emotions with positive, other-oriented emotions. Rumination,has been suggested as a mediator between forgivingness and emotional outcomes; however, we suggest that different content of rumination,leads to different outcomes,after trans- gressions. In four studies of 179,

Jack W. Berry; Everett L. Worthington; Lynn E. O'Connor; Les Parrott III; Nathaniel G. Wade

2005-01-01

270

Is the beta phase maximal?  

SciTech Connect

indicates that 2|Vub / Vcb/ Vus| = (1-z) with z given by z = 0.19 +(-) 0.14. This fact implies that irrespective of the form of the quark Yukawa matrices, the measured value of the SM CP phase beta is approximately the maximum allowed by the measured absolute values of the CKM elements. This is beta = pi/6 - z/sqrt{3} for gamma = pi/3 + z/sqrt{3}, which implies alpha = pi/2. Alternatively, assuming that beta is exactly maximal and using the experimental measurement, sin(2beta) = 0.726+(-) 0.037, the phase gamma is predicted to be gamma = pi/2 - beta = 66.3 +(-) 1.7. The maximality of beta, if confirmed by the near-future experiments, may give us some clues as to the origin of CP violation.

Ferrandis, Javier; Ferrandis, Javier

2005-04-20

271

Relative quantitation of mRNA in beta-thalassemia/Hb E using real-time polymerase chain reaction.  

PubMed

beta-Thalassemia and Hb E patients, with seemingly identical genotypes, have a remarkable variability in severity. Reduction in red cell survival in beta-thalassemia is correlated with the amount of intracellular unmatched alpha-globin chains. However, it was only recently realized that mRNA, whose translation is prematurely terminated, is also unstable. No systematic attempts have been made to investigate mRNA stability in beta-thalassemia arising from nonsense mutations located upstream from the normal termination codon. In this study, one-step real-time polymerase chain reaction has been employed to compare the levels of alpha- and beta-globin mRNA in reticulocytes from beta-thalassemia/Hb E subjects. The results showed the highest alpha/beta-globin mRNA ratio (median = 5.70, n = 13) in frameshift codons 41/42 (-TTCT)/Hb E individuals compared to normal subjects (median = 1.02, n = 6), or those with Hb E trait (median = 2.15, n = 8). In addition, there was a concomitant increase in the alpha/beta-globin mRNA ratio with decrease in hemoglobin level, i.e., increase in severity. The difference in the ratio among beta-thalassemia/Hb E patients with the same genotype may be attributed to individual variations of efficiency in betaE-globin mRNA splicing and in the destruction of prematurely terminated mRNA. PMID:10870881

Watanapokasin, Y; Winichagoon, P; Fuchareon, S; Wilairat, P

2000-05-01

272

Multiple-trait multiple-country genetic evaluation of Holstein bulls for female fertility and milk production traits.  

PubMed

The aim of this study was to investigate the effect of including milk yield data in the international genetic evaluation of female fertility traits to reduce or eliminate a possible bias because of across-country selection for milk yield. Data included two female fertility traits from Great Britain, Italy and the Netherlands, together with milk yield data from the same countries and from the United States, because the genetic trends in other countries may be influenced by selection decisions on bulls in the United States. Potentially, female fertility data had been corrected nationally for within-country selection and management biases for milk yield. Using a multiple-trait multiple across-country evaluation (MT-MACE) for the analysis of female fertility traits with milk yield, across-country selection patterns both for female fertility and milk yield can be considered simultaneously. Four analyses were performed; one single-trait multiple across-country evaluation analysis including only milk yield data, one MT-MACE analysis including only female fertility traits, and one MT-MACE analysis including both female fertility and milk yield traits. An additional MT-MACE analysis was performed including both female fertility and milk yield traits, but excluding the United States. By including milk yield traits to the analysis, female fertility reliabilities increased, but not for all bulls in all the countries by trait combinations. The presence of milk yield traits in the analysis did not considerably change the genetic correlations, genetic trends or bull rankings of female fertility traits. Even though the predicted genetic merits of female fertility traits hardly changed by including milk yield traits to the analysis, the change was not equally distributed to the whole data. The number of bulls in common between the two sets of Top 100 bulls for each trait in the two analyses of female fertility traits, with and without the four milk yield traits and their rank correlations were low, not necessarily because of the absence of the US milk yield data. The joint international genetic evaluation of female fertility traits with milk yield is recommended to make use of information on several female fertility traits from different countries simultaneously, to consider selection decisions for milk yield in the genetic evaluation of female fertility traits for obtaining more accurate estimating breeding values (EBV) and to acquire female fertility EBV for bulls evaluated for milk yield, but not for female fertility. PMID:24840559

Nilforooshan, M A; Jakobsen, J H; Fikse, W F; Berglund, B; Jorjani, H

2014-06-01

273

Interspecies correlation for neutrally evolving traits.  

PubMed

A simple way to model phenotypic evolution is to assume that after splitting, the trait values of the sister species diverge as independent Brownian motions. Relying only on a prior distribution for the underlying species tree (conditioned on the number, n, of extant species) we study the random vector (X(1),…,X(n)) of the observed trait values. In this paper we derive compact formulae for the variance of the sample mean and the mean of the sample variance for the vector (X(1),…,X(n)). The key ingredient of these formulae is the correlation coefficient between two trait values randomly chosen from (X(1),…,X(n)). This interspecies correlation coefficient takes into account not only variation due to the random sampling of two species out of n and the stochastic nature of Brownian motion but also the uncertainty in the phylogenetic tree. The latter is modeled by a (supercritical or critical) conditioned branching process. In the critical case we modify the Aldous-Popovic model by assuming a proper prior for the time of origin. PMID:22706152

Sagitov, Serik; Bartoszek, Krzysztof

2012-09-21

274

The role of personality traits in insomnia.  

PubMed

Insomnia is a highly prevalent sleep disorder, known to affect psychological well-being and quality of life. While perpetuating factors have received much attention, the role of predisposing factors has not been studied in much detail. The susceptibility to develop insomnia may be linked to the presence of certain personality features. Here, we review studies that assessed this particular aspect of insomnia. Due to various methodological issues, definitive conclusions cannot be drawn as of yet, and several conflicting findings remain. However, there is a common trend indicating that insomniacs display more signs of 'neuroticism', 'internalization', anxious concerns and traits associated with perfectionism. These factors may play varying roles depending on the specific subdiagnosis of insomnia. In addition, certain personality traits may be related to the response to (cognitive) behavioral treatment. For instance, insomniacs reporting less 'guardedness' and have a higher score on the MMPI 'hypomania' scale show less improvement through psychological treatment. The specific role of personality traits in the etiology of insomnia is not yet clear, because of a lack of longitudinal data. Personality factors may play a causal role in the development of insomnia, but may also be a consequence of the sleep problem and the associated daytime dysfunction. Future longitudinal studies should not view personality as a single predisposing factor, but assess it as a part of a larger group of interacting psychological and physiological factors involved in the predisposition to and perpetuation of chronic insomnia. PMID:19897388

van de Laar, Merijn; Verbeek, Ingrid; Pevernagie, Dirk; Aldenkamp, Albert; Overeem, Sebastiaan

2010-02-01

275

Bayesian functional mapping of dynamic quantitative traits.  

PubMed

Without consideration of other linked QTLs responsible for dynamic trait, original functional mapping based on a single QTL model is not optimal for analyzing multiple dynamic trait loci. Despite that composite functional mapping incorporates the effects of genetic background outside the tested QTL in mapping model, the arbitrary choice of background markers also impact on the power of QTL detection. In this study, we proposed Bayesian functional mapping strategy that can simultaneously identify multiple QTL controlling developmental patterns of dynamic traits over the genome. Our proposed method fits the change of each QTL effect with the time by Legendre polynomial and takes the residual covariance structure into account using the first autoregressive equation. Also, Bayesian shrinkage estimation was employed to estimate the model parameters. Especially, we specify the gamma distribution as the prior for the first-order auto-regressive coefficient, which will guarantee the convergence of Bayesian sampling. Simulations showed that the proposed method could accurately estimate the QTL parameters and had a greater statistical power of QTL detection than the composite functional mapping. A real data analysis of leaf age growth in rice is used for the demonstration of our method. It shows that our Bayesian functional mapping can detect more QTLs as compared to composite functional mapping. PMID:21573763

Yang, Runqing; Li, Jiahan; Wang, Xin; Zhou, Xiaojing

2011-08-01

276

Dispositional traits as risk in problem drinking.  

PubMed

A trait-dispositional paradigm for conceptualizing personality provided the framework for investigating the relationship between personality dispositions and drinking problems. This approach was compared directly with personality research based on the Minnesota Multiphasic Personality Inventory (MMPI). A total of 241 subjects (192 men and 49 women) were tested at a mandatory Driving While Intoxicated (DWI) first-offender education program. Information was gathered from the Michigan Alcoholism Screening Test (MAST), Blood Alcohol Concentration (BAC) at time of arrest, and two personality tests--the MacAndrew Alcoholism Scale (MAC) and the Problem Drinker Trait List (PDTL). The psychometric properties of the PDTL were analyzed and compared with those of the MAC. In comparing the two personality tests in terms of their capacity to predict drinking problems over a wide range of drinking severity, the PDTL performed as well or better than the MAC, particularly for drinkers with low arrest BAC. Comparative analysis between the best predictor items of the MAC and of the PDTL revealed little relationship between the item domains. The predictive trait clusters of the PDTL for men were Emotionality/Depressiveness, Impulsivity, and Low Self-Confidence, whereas predictive clusters for women included Depressiveness, Overcontrol, and Alienation. PMID:8186674

Chalmers, D; Olenick, N L; Stein, W

1993-01-01

277

The Effects of Sertraline on Psychopathic Traits  

PubMed Central

Objective To evaluate whether antidepressants alter expression of psychopathic personality traits in patients with major depressive disorder (MDD). Methods Data were collected from a double-blind, placebo-controlled 8-week trial evaluating the efficacy of sertraline (50-200 mg/d) combined with either tri-iodothyronine (T3) or matching placebo in adult outpatients with MDD. Administration of sertraline was open-label; T3/placebo was double-blind. At the baseline and week 8 visits, patients completed the short form of the Psychopathic Personality Inventory (PPI), a well-validated self-report measure assessing two major factors of psychopathy: Fearless Dominance (PPI-1) and Self-centered Impulsivity (PPI-2). Change in PPI scores were assessed using paired t-tests for all subjects who completed a baseline and post-randomization PPI. Results Ninety patients (84 completers and 6 who terminated the trial early) were eligible for the analysis. Both PPI factors changed significantly from baseline to endpoint, but in opposing directions. The mean score on PPI-1 increased significantly during treatment; this change was weakly correlated with change in depression scores. In contrast, the mean score on PPI-2 decreased significantly, but these changes were not correlated with changes in depression scores. Conclusion Independent of their effects on depression, antidepressants increase adaptive traits traditionally observed in psychopathic individuals, such as social charm and interpersonal and physical boldness. Antidepressants reduce other, more maladaptive, traits associated with psychopathy, including dysregulated impulsivity and externalization.

Dunlop, Boadie W.; DeFife, Jared A.; Marx, Lauren; Garlow, Steven J.; Nemeroff, Charles B.; Lilienfeld, Scott O.

2011-01-01

278

Quantitative trait loci governing carotenoid concentration and weight in seeds of chickpea (Cicer arietinum L.).  

PubMed

Chickpea is a staple protein source in many Asian and Middle Eastern countries. The seeds contain carotenoids such as beta-carotene, cryptoxanthin, lutein and zeaxanthin in amounts above the engineered beta-carotene-containing "golden rice" level. Thus, breeding for high carotenoid concentration in seeds is of nutritional, socio-economic, and economic importance. To study the genetics governing seed carotenoids in chickpea, we studied the relationship between seed weight and concentrations of beta-carotene and lutein by means of high-performance liquid chromatography in segregating progeny from a cross between an Israeli cultivar and wild Cicer reticulatum Ladiz. Seeds of the cross progeny varied with respect to their carotenoid concentration (heritability estimates ranged from 0.5 to 0.9), and a negative genetic correlation was found between mean seed weight and carotenoid concentration in the F(3). To determine the loci responsible for the genetic variation observed, the population was genotyped using 91 sequence tagged microsatellite site markers and two CytP450 markers to generate a genetic map consisting of nine linkage groups and a total length of 344.6 cM. Using quantitative data collected for beta-carotene and lutein concentration and seed weight of the seeds of the F(2) population, we were able to identify quantitative trait loci (QTLs) by interval mapping. At a LOD score of 2, four QTLs for beta-carotene concentration, a single QTL for lutein concentration and three QTLs for seed weight were detected. The results of this investigation may assist in improving the nutritional quality of chickpea. PMID:15918010

Abbo, S; Molina, C; Jungmann, R; Grusak, M A; Berkovitch, Z; Reifen, Ruth; Kahl, G; Winter, P; Reifen, R

2005-07-01

279

Network-based analysis of genome wide association data provides novel candidate genes for lipid and lipoprotein traits.  

PubMed

Genome wide association studies (GWAS) identify susceptibility loci for complex traits, but do not identify particular genes of interest. Integration of functional and network information may help in overcoming this limitation and identifying new susceptibility loci. Using GWAS and comorbidity data, we present a network-based approach to predict candidate genes for lipid and lipoprotein traits. We apply a prediction pipeline incorporating interactome, co-expression, and comorbidity data to Global Lipids Genetics Consortium (GLGC) GWAS for four traits of interest, identifying phenotypically coherent modules. These modules provide insights regarding gene involvement in complex phenotypes with multiple susceptibility alleles and low effect sizes. To experimentally test our predictions, we selected four candidate genes and genotyped representative SNPs in the Malmö Diet and Cancer Cardiovascular Cohort. We found significant associations with LDL-C and total-cholesterol levels for a synonymous SNP (rs234706) in the cystathionine beta-synthase (CBS) gene (p = 1 × 10(-5) and adjusted-p = 0.013, respectively). Further, liver samples taken from 206 patients revealed that patients with the minor allele of rs234706 had significant dysregulation of CBS (p = 0.04). Despite the known biological role of CBS in lipid metabolism, SNPs within the locus have not yet been identified in GWAS of lipoprotein traits. Thus, the GWAS-based Comorbidity Module (GCM) approach identifies candidate genes missed by GWAS studies, serving as a broadly applicable tool for the investigation of other complex disease phenotypes. PMID:23882023

Sharma, Amitabh; Gulbahce, Natali; Pevzner, Samuel J; Menche, Jörg; Ladenvall, Claes; Folkersen, Lasse; Eriksson, Per; Orho-Melander, Marju; Barabási, Albert-László

2013-11-01

280

Simultaneous beta and gamma spectroscopy  

DOEpatents

A phoswich radiation detector for simultaneous spectroscopy of beta rays and gamma rays includes three scintillators with different decay time characteristics. Two of the three scintillators are used for beta detection and the third scintillator is used for gamma detection. A pulse induced by an interaction of radiation with the detector is digitally analyzed to classify the type of event as beta, gamma, or unknown. A pulse is classified as a beta event if the pulse originated from just the first scintillator alone or from just the first and the second scintillator. A pulse from just the third scintillator is recorded as gamma event. Other pulses are rejected as unknown events.

Farsoni, Abdollah T. (Corvallis, OR); Hamby, David M. (Corvallis, OR)

2010-03-23

281

Analysis of Moraxella catarrhalis by DNA typing: evidence for a distinct subpopulation associated with virulence traits.  

PubMed

Two DNA typing methods, probe-generated restriction fragment length polymorphism analysis and single-adapter amplified fragment length polymorphism analysis, were used to study the genetic relationships among 90 Moraxella catarrhalis strains. Both methods were found to be highly concordant, generating a dendrogram with 2 main branches. The division of the M. catarrhalis population into 2 subspecies was supported by analysis of the 16S rRNA sequences. Both beta-lactamase-positive and beta-lactamase-negative strains were found in all main branches, suggesting horizontal transfer of the beta-lactamase gene. In contrast, 2 virulence traits, complement resistance and adherence to epithelial cells, were strongly associated with 1 of the 2 subspecies. The branch depth suggested that complement-resistant adherent strains diverged from a common ancestor more recently than did complement-sensitive nonadherent strains. These findings suggest the existence of subpopulations of M. catarrhalis that differ in virulence, and they may have implications for vaccine development. PMID:10762569

Bootsma, H J; van der Heide, H G; van de Pas, S; Schouls, L M; Mooi, F R

2000-04-01

282

Root traits contributing to plant productivity under drought  

PubMed Central

Geneticists and breeders are positioned to breed plants with root traits that improve productivity under drought. However, a better understanding of root functional traits and how traits are related to whole plant strategies to increase crop productivity under different drought conditions is needed. Root traits associated with maintaining plant productivity under drought include small fine root diameters, long specific root length, and considerable root length density, especially at depths in soil with available water. In environments with late season water deficits, small xylem diameters in targeted seminal roots save soil water deep in the soil profile for use during crop maturation and result in improved yields. Capacity for deep root growth and large xylem diameters in deep roots may also improve root acquisition of water when ample water at depth is available. Xylem pit anatomy that makes xylem less “leaky” and prone to cavitation warrants further exploration holding promise that such traits may improve plant productivity in water-limited environments without negatively impacting yield under adequate water conditions. Rapid resumption of root growth following soil rewetting may improve plant productivity under episodic drought. Genetic control of many of these traits through breeding appears feasible. Several recent reviews have covered methods for screening root traits but an appreciation for the complexity of root systems (e.g., functional differences between fine and coarse roots) needs to be paired with these methods to successfully identify relevant traits for crop improvement. Screening of root traits at early stages in plant development can proxy traits at mature stages but verification is needed on a case by case basis that traits are linked to increased crop productivity under drought. Examples in lesquerella (Physaria) and rice (Oryza) show approaches to phenotyping of root traits and current understanding of root trait genetics for breeding.

Comas, Louise H.; Becker, Steven R.; Cruz, Von Mark V.; Byrne, Patrick F.; Dierig, David A.

2013-01-01

283

Association and expression study of MMP3 , TGF?1 and COL10A1 as candidate genes for leg weakness-related traits in pigs  

Microsoft Academic Search

The present study was aimed to determine the association between metalloproteinase 3 (MMP3), transforming growth factor beta 1 (TGF?1) and collagen type X alpha I (COL10A1) gene polymorphisms with traits related to leg weakness in pigs. Three hundred Duroc × Pietrain cross breds (DuPi) and 299\\u000a pigs of a commercial population (CP) were used for the experiment. DuPi animals were examined for

Watchara Laenoi; Noppawan Rangkasenee; Muhammad Jasim Uddin; Mehmet Ulas Cinar; Chirawath Phatsara; Dawit Tesfaye; Armin M. Scholz; Ernst Tholen; Christian Looft; Manfred Mielenz; Helga Sauerwein; Klaus Wimmers; Karl Schellander

284

EEG theta/beta ratio as a potential biomarker for attentional control and resilience against deleterious effects of stress on attention.  

PubMed

Anxious stress compromises cognitive executive performance. This occurs, for instance, in cognitive performance anxiety (CPA), in which anxiety about one's cognitive performance causes that performance to actually deteriorate (e.g., test anxiety). This is thought to result from a prefrontal cortically (PFC) mediated failure of top-down attentional control over stress-induced automatic processing of threat-related information. In addition, stress-induced increased catecholamine influx into the PFC may directly compromise attentional function. Previous research has suggested that the ratio between resting state electroencephalographic (EEG) low- and high-frequency power (the theta/beta ratio) is related to trait attentional control, which might moderate these effects of stress on attentional function. The goals of the present study were to test the novel prediction that theta/beta ratio moderates the deleterious effects of CPA-like anxious stress on state attentional control and to replicate a previous finding that the theta/beta ratio is related to self-reported trait attentional control. After recording of baseline frontal EEG signals, 77 participants performed a stress induction or a control procedure. Trait attentional control was assessed with the Attentional Control Scale, whereas stress-induced changes in attentional control and anxiety were measured with self-report visual analogue scales. The hypothesized moderating influence of theta/beta ratio on the effects of stress on state attentional control was confirmed. Theta/beta ratio explained 28% of the variance in stress-induced deterioration of self-reported attentional control. The negative relationship between theta/beta ratio and trait attentional control was replicated (r = -.33). The theta/beta ratio reflects, likely prefrontally mediated, attentional control, and should be a useful biomarker for the study of CPA and other anxiety-cognition interactions. PMID:24379166

Putman, Peter; Verkuil, Bart; Arias-Garcia, Elsa; Pantazi, Ioanna; van Schie, Charlotte

2014-06-01

285

Production of Beta-Carotene.  

National Technical Information Service (NTIS)

The invention involves a method of greatly improving the production of beta-carotene by the mixed mating strains of Blakeslea trispora in a beta-carotene-producing fermentation medium, comprising adding to the medium at the beginning of the fermentation a...

A. Ciegler

1965-01-01

286

Amyloid Beta Mediates Memory Formation  

ERIC Educational Resources Information Center

The amyloid precursor protein (APP) undergoes sequential cleavages to generate various polypeptides, including the amyloid [beta] (1-42) peptide (A[beta][1-42]), which is believed to play a major role in amyloid plaque formation in Alzheimer's disease (AD). Here we provide evidence that, in contrast with its pathological role when accumulated,…

Garcia-Osta, Ana; Alberini, Cristina M.

2009-01-01

287

WebBrain (Beta)  

NSDL National Science Digital Library

Created by TheBrain.com, a visual information management software company, this new site offers a nifty way of browsing the Open Directory Project (ODP) (see the November 20, 1998 Scout Report). With WebBrain's animated interface, users can view their search and browsing results as a dynamic diagram instead of a long list. As with any other site that accesses the ODP, users can browse the Directory's 1.7 million sites by category or search by keyword. Due to the visual effects, however, faster connections and newer browsers are a must. Although the Beta claims it does not support Mac browsers, we were able to use the site, though with noticeably better performance from IE 5.5 compared to Netscape.

288

Quantitative trait loci for energy balance traits in an advanced intercross line derived from mice divergently selected for heat loss  

PubMed Central

Obesity in human populations, currently a serious health concern, is considered to be the consequence of an energy imbalance in which more energy in calories is consumed than is expended. We used interval mapping techniques to investigate the genetic basis of a number of energy balance traits in an F11 advanced intercross population of mice created from an original intercross of lines selected for increased and decreased heat loss. We uncovered a total of 137 quantitative trait loci (QTLs) for these traits at 41 unique sites on 18 of the 20 chromosomes in the mouse genome, with X-linked QTLs being most prevalent. Two QTLs were found for the selection target of heat loss, one on distal chromosome 1 and another on proximal chromosome 2. The number of QTLs affecting the various traits generally was consistent with previous estimates of heritabilities in the same population, with the most found for two bone mineral traits and the least for feed intake and several body composition traits. QTLs were generally additive in their effects, and some, especially those affecting the body weight traits, were sex-specific. Pleiotropy was extensive within trait groups (body weights, adiposity and organ weight traits, bone traits) and especially between body composition traits adjusted and not adjusted for body weight at sacrifice. Nine QTLs were found for one or more of the adiposity traits, five of which appeared to be unique. The confidence intervals among all QTLs averaged 13.3 Mb, much smaller than usually observed in an F2 cross, and in some cases this allowed us to make reasonable inferences about candidate genes underlying these QTLs. This study combined QTL mapping with genetic parameter analysis in a large segregating population, and has advanced our understanding of the genetic architecture of complex traits related to obesity.

Nielsen, Merlyn K.; Thorn, Stephanie R.; Valdar, William; Pomp, Daniel

2014-01-01

289

Predicting neutrinoless double beta decay  

SciTech Connect

We give predictions for the neutrinoless double beta decay rate in a simple variant of the A{sub 4} family symmetry model. We show that there is a lower bound for the {beta}{beta}{sub 0{nu}} amplitude even in the case of normal hierarchical neutrino masses, corresponding to an effective mass parameter vertical bar m{sub ee} vertical bar {>=}0.17{radical}({delta}m{sub ATM}{sup 2}). This result holds both for the CP conserving and CP violating cases. In the latter case we show explicitly that the lower bound on vertical bar m{sub ee} vertical bar is sensitive to the value of the Majorana phase. We conclude therefore that in our scheme, {beta}{beta}{sub 0{nu}} may be accessible to the next generation of high sensitivity experiments.

Hirsch, M.; Villanova del Moral, A.; Valle, J.W.F. [AHEP Group, Instituto de Fisica Corpuscular - C.S.I.C./Universitat de Valencia, Edificio Institutos de Paterna, Apt 22085, E-46071 Valencia (Spain); Ma, Ernest [Physics Department, University of California, Riverside, California 92521 (United States); Institute for Particle Physics Phenomenology, University of Durham, Durham, DH1 3LE (United Kingdom)

2005-11-01

290

Effects of bacteriophage traits on plaque formation  

PubMed Central

Background The appearance of plaques on a bacterial lawn is one of the enduring imageries in modern day biology. The seeming simplicity of a plaque has invited many hypotheses and models in trying to describe and explain the details of its formation. However, until now, there has been no systematic experimental exploration on how different bacteriophage (phage) traits may influence the formation of a plaque. In this study, we constructed a series of isogenic ? phages that differ in their adsorption rate, lysis timing, or morphology so that we can determine the effects if these changes on three plaque properties: size, progeny productivity, and phage concentration within plaques. Results We found that the adsorption rate has a diminishing, but negative impact on all three plaque measurements. Interestingly, there exists a concave relationship between the lysis time and plaque size, resulting in an apparent optimal lysis time that maximizes the plaque size. Although suggestive in appearance, we did not detect a significant effect of lysis time on plaque productivity. Nonetheless, the combined effects of plaque size and productivity resulted in an apparent convex relationship between the lysis time and phage concentration within plaques. Lastly, we found that virion morphology also affected plaque size. We compared our results to the available models on plaque size and productivity. For the models in their current forms, a few of them can capture the qualitative aspects of our results, but not consistently in both plaque properties. Conclusions By using a collection of isogenic phage strains, we were able to investigate the effects of individual phage traits on plaque size, plaque productivity, and average phage concentration in a plaque while holding all other traits constant. The controlled nature of our study allowed us to test several model predictions on plaque size and plaque productivity. It seems that a more realistic theoretical approach to plaque formation is needed in order to capture the complex interaction between phage and its bacterium host in a spatially restricted environment.

2011-01-01

291

[Major domestication traits in Asian rice].  

PubMed

Rice (Oryza sativa L.) is an excellent model plant in elucidation of cereal domestication. Loss of seed shattering, weakened dormancy, and changes in plant architecture were thought to be three key events in the rice domestication and creating the high-yield, uniform-germinating, and densely-planting modern rice. Loss of shattering is considered to be the direct morphological evidence for identifying domesticated rice. Two major shattering QTLs, Sh4 and qSH1, have displayed different domestication histories. Weakened seed dormancy is essential for synchronous germination in agricultural production. Genes Sdr4, qSD7-1, and qSD12 impose a global and complementary adaptation strategies in controlling seed dormancy. The prostate growth habit of wild rice is an adaptation to disturbed habitats, while the erect growth habit of rice cultivars meet the needs of compact planting, and such a plant architecture is mainly controlled by PROG1. The outcrossing habit of wild rice promotes propagation of domestication genes among different populations, while the self-pollinating habit of cultivated rice facilitates fixation of domestication genes. Currently, the researches on rice domestication mainly focus on individual genes or multiple neutral markers, and much less attention has been paid to the evolution of network controlling domestication traits. With the progress in functional genomics research, the molecular mechanism of domestication traits is emerging. Rice domestication researches based on network will be more comprehensive and better reflect rice domestica-tion process. Here, we reviewed most progresses in molecular mechanisms of rice domestication traits, in order to provide the new insights for rice domestication and molecular breeding. PMID:23208135

Ou, Shu-Jun; Wang, Hong-Ru; Chu, Cheng-Cai

2012-11-01

292

Expression quantitative trait loci: present and future.  

PubMed

The last few years have seen the development of large efforts for the analysis of genome function, especially in the context of genome variation. One of the most prominent directions has been the extensive set of studies on expression quantitative trait loci (eQTLs), namely, the discovery of genetic variants that explain variation in gene expression levels. Such studies have offered promise not just for the characterization of functional sequence variation but also for the understanding of basic processes of gene regulation and interpretation of genome-wide association studies. In this review, we discuss some of the key directions of eQTL research and its implications. PMID:23650636

Nica, Alexandra C; Dermitzakis, Emmanouil T

2013-01-01

293

Facial Trait Code and Its Application to Face Recognition  

Microsoft Academic Search

We propose the Facial Trait Code (FTC) to encode human facial images. The proposed FTC is motivated by the discovery of the\\u000a basic types of local facial features, called facial trait bases, which can be extracted from a large number of faces. In addition, the fusion of these facial trait bases can accurately\\u000a capture the appearance of a face. Extraction

Ping-han Lee; Gee-sern Hsu; Tsuhan Chen; Yi-ping Hung

2008-01-01

294

Selection for production and reproduction traits in pigs  

Microsoft Academic Search

Introduction<\\/u>Reproduction traits are important for piglet production, whereas production traits are important for fattening. Pig breeding organizations improve both groups of traits by selection in nucleus populations. Optimization of selection in these nucleus populations is important, because these populations determine the performance in all levels of the breeding pyramid, including the piglet production and fattening herds.Optimization of selection in pigs

Vries de A. G

1989-01-01

295

Enhanced pathological angiogenesis in mice lacking beta3 integrin or beta3 and beta5 integrins.  

PubMed

Inhibition of alphavbeta3 or alphavbeta5 integrin function has been reported to suppress neovascularization and tumor growth, suggesting that these integrins are critical modulators of angiogenesis. Here we report that mice lacking beta3 integrins or both beta3 and beta5 integrins not only support tumorigenesis, but have enhanced tumor growth as well. Moreover, the tumors in these integrin-deficient mice display enhanced angiogenesis, strongly suggesting that neither beta3 nor beta5 integrins are essential for neovascularization. We also observed that angiogenic responses to hypoxia and vascular endothelial growth factor (VEGF) are augmented significantly in the absence of beta3 integrins. We found no evidence that the expression or functions of other integrins were altered as a consequence of the beta3 deficiency, but we did observe elevated levels of VEGF receptor-2 (also called Flk-1) in beta3-null endothelial cells. These data indicate that alphavbeta3 and alphavbeta5 integrins are not essential for vascular development or pathological angiogenesis and highlight the need for further evaluation of the mechanisms of action of alphav-integrin antagonists in anti-angiogenic therapeutics. PMID:11786903

Reynolds, Louise E; Wyder, Lorenza; Lively, Julie C; Taverna, Daniela; Robinson, Stephen D; Huang, Xiaozhu; Sheppard, Dean; Hynes, Richard O; Hodivala-Dilke, Kairbaan M

2002-01-01

296

Alpine climate alters the relationships between leaf and root morphological traits but not chemical traits.  

PubMed

Leaves and fine roots are among the most important and dynamic components of terrestrial ecosystems. To what extent plants synchronize their resource capture strategies above- and belowground remains uncertain. Existing results of trait relationships between leaf and root showed great inconsistency, which may be partly due to the differences in abiotic environmental conditions such as climate and soil. Moreover, there is currently little evidence on whether and how the stringent environments of high-altitude alpine ecosystems alter the coordination between above- and belowground. Here we measured six sets of analogous traits for both leaves and fine roots of 139 species collected from Tibetan alpine grassland and Mongolian temperate grassland. N, P and N:P ratio of leaves and fine roots were positively correlated, independent of biogeographic regions, phylogenetic affiliation or climate. In contrast, leaves and fine roots seem to regulate morphological traits more independently. The specific leaf area (SLA)-specific root length (SRL) correlation shifted from negative at sites under low temperature to positive at warmer sites. The cold climate of alpine regions may impose different constraints on shoots and roots, selecting simultaneously for high SLA leaves for rapid C assimilation during the short growing season, but low SRL roots with high physical robustness to withstand soil freezing. In addition, there might be more community heterogeneity in cold soils, resulting in multidirectional strategies of root in resource acquisition. Thus our results demonstrated that alpine climate alters the relationships between leaf and root morphological but not chemical traits. PMID:24633995

Geng, Yan; Wang, Liang; Jin, Dongmei; Liu, Huiying; He, Jin-Sheng

2014-06-01

297

Quantitative Trait Loci (QTLs) mapping for growth traits in the mouse: A review  

Microsoft Academic Search

The attainment of a specific mature body size is one of the most fundamental differences among species of mammals. Moreover, body size seems to be the central factor underlying differences in traits such as growth rate, energy metabolism and body composition. An important proportion of this variability is of genetic origin. The goal of the genetic analysis of animal growth

Pablo M. CORVA; Juan F. MEDRANO

2001-01-01

298

Explaining group-level traits requires distinguishing process from product.  

PubMed

Smaldino is right to argue that we need a richer theory of group-level traits. He is wrong, however, in limiting group-level traits to units of cultural selection, which require explanations based on group selection. Traits are best understood when explanations focus on both process (i.e., selection) and product (i.e., adaptation). This approach can distinguish group-level traits that arise through within-group processes from those that arise through between-group processes. PMID:24970416

Panchanathan, Karthik; Mathew, Sarah; Perreault, Charles

2014-06-01

299

Epistasis dominates the genetic architecture of Drosophila quantitative traits  

PubMed Central

Epistasis—nonlinear genetic interactions between polymorphic loci—is the genetic basis of canalization and speciation, and epistatic interactions can be used to infer genetic networks affecting quantitative traits. However, the role that epistasis plays in the genetic architecture of quantitative traits is controversial. Here, we compared the genetic architecture of three Drosophila life history traits in the sequenced inbred lines of the Drosophila melanogaster Genetic Reference Panel (DGRP) and a large outbred, advanced intercross population derived from 40 DGRP lines (Flyland). We assessed allele frequency changes between pools of individuals at the extremes of the distribution for each trait in the Flyland population by deep DNA sequencing. The genetic architecture of all traits was highly polygenic in both analyses. Surprisingly, none of the SNPs associated with the traits in Flyland replicated in the DGRP and vice versa. However, the majority of these SNPs participated in at least one epistatic interaction in the DGRP. Despite apparent additive effects at largely distinct loci in the two populations, the epistatic interactions perturbed common, biologically plausible, and highly connected genetic networks. Our analysis underscores the importance of epistasis as a principal factor that determines variation for quantitative traits and provides a means to uncover genetic networks affecting these traits. Knowledge of epistatic networks will contribute to our understanding of the genetic basis of evolutionarily and clinically important traits and enhance predictive ability at an individualized level in medicine and agriculture.

Huang, Wen; Richards, Stephen; Carbone, Mary Anna; Zhu, Dianhui; Anholt, Robert R. H.; Ayroles, Julien F.; Duncan, Laura; Jordan, Katherine W.; Lawrence, Faye; Magwire, Michael M.; Warner, Crystal B.; Blankenburg, Kerstin; Han, Yi; Javaid, Mehwish; Jayaseelan, Joy; Jhangiani, Shalini N.; Muzny, Donna; Ongeri, Fiona; Perales, Lora; Wu, Yuan-Qing; Zhang, Yiqing; Zou, Xiaoyan; Stone, Eric A.; Gibbs, Richard A.; Mackay, Trudy F. C.

2012-01-01

300

Epistasis dominates the genetic architecture of Drosophila quantitative traits.  

PubMed

Epistasis-nonlinear genetic interactions between polymorphic loci-is the genetic basis of canalization and speciation, and epistatic interactions can be used to infer genetic networks affecting quantitative traits. However, the role that epistasis plays in the genetic architecture of quantitative traits is controversial. Here, we compared the genetic architecture of three Drosophila life history traits in the sequenced inbred lines of the Drosophila melanogaster Genetic Reference Panel (DGRP) and a large outbred, advanced intercross population derived from 40 DGRP lines (Flyland). We assessed allele frequency changes between pools of individuals at the extremes of the distribution for each trait in the Flyland population by deep DNA sequencing. The genetic architecture of all traits was highly polygenic in both analyses. Surprisingly, none of the SNPs associated with the traits in Flyland replicated in the DGRP and vice versa. However, the majority of these SNPs participated in at least one epistatic interaction in the DGRP. Despite apparent additive effects at largely distinct loci in the two populations, the epistatic interactions perturbed common, biologically plausible, and highly connected genetic networks. Our analysis underscores the importance of epistasis as a principal factor that determines variation for quantitative traits and provides a means to uncover genetic networks affecting these traits. Knowledge of epistatic networks will contribute to our understanding of the genetic basis of evolutionarily and clinically important traits and enhance predictive ability at an individualized level in medicine and agriculture. PMID:22949659

Huang, Wen; Richards, Stephen; Carbone, Mary Anna; Zhu, Dianhui; Anholt, Robert R H; Ayroles, Julien F; Duncan, Laura; Jordan, Katherine W; Lawrence, Faye; Magwire, Michael M; Warner, Crystal B; Blankenburg, Kerstin; Han, Yi; Javaid, Mehwish; Jayaseelan, Joy; Jhangiani, Shalini N; Muzny, Donna; Ongeri, Fiona; Perales, Lora; Wu, Yuan-Qing; Zhang, Yiqing; Zou, Xiaoyan; Stone, Eric A; Gibbs, Richard A; Mackay, Trudy F C

2012-09-25

301

High Temperature Stability of Potassium Beta Alumina  

NASA Technical Reports Server (NTRS)

None. From Objectives section: Evaluate the stability of potassium beta alumina under potassium AMTEC operating conditions. Evaluate the stability regime in which potassium beta alumina can be fabricated.

Williams, R. M.; Kisor, A.; Ryan, M. A.

1996-01-01

302

Nonlinear subcritical magnetohydrodynamic beta limit  

SciTech Connect

Published gyrokinetic simulations have had difficulty operating beyond about half the ideal magnetohydrodynamic (MHD) critical beta limit with stationary and low transport levels in some well-established reference cases. Here it is demonstrated that this limitation is unlikely due to numerical instability, but rather appears to be a nonlinear subcritical MHD beta limit[R. E. Waltz, Phys. Rev. Lett. 55, 1098 (1985)] induced by the locally enhanced pressure gradients from the diamagnetic component of the nonlinearly driven (zero frequency) zonal flows. Strong evidence that the zonal flow corrugated pressure gradient profiles can act as a MHD-like beta limit unstable secondary equilibrium is provided. It is shown that the addition of sufficient ExB shear or operation closer to drift wave instability threshold, thereby reducing the high-n drift wave turbulence nonlinear pumping of the zonal flows, can allow the normal high-n ideal MHD beta limit to be reached with low transport levels. Example gyrokinetic simulations of experimental discharges are provided: one near the high-n beta limit reasonably matches the low transport levels needed when the high experimental level of ExB shear is applied; a second experimental example at moderately high beta appears to be limited by the subcritical beta.

Waltz, R. E. [General Atomics, P.O. Box 85608, San Diego, California 92186-5608 (United States)

2010-07-15

303

Genetic parameters for traits at performance test of stallions and correlations with traits at progeny tests in Swedish warmblood horses  

Microsoft Academic Search

Genetic parameters for traits evaluated in the Swedish stallion performance test (SPT) and correlations between stallion performance test traits and 4-year-old offspring results from field tests were estimated. Heritability coefficients were on average 0.40 for individual gaits under rider and 0.23–0.47 for jumping traits at SPTs. Repeatabilities between tests at 6-month intervals were 0.75–0.77 for gaits and 0.38–0.58 for jumping

Elisabeth Gerber Olsson; Thorvaldur Árnason; Anna Näsholm; Jan Philipsson

2000-01-01

304

Quantitative trait loci for grain quality, productivity, morphological and agronomical traits in sorghum (Sorghum bicolor L. Moench)  

Microsoft Academic Search

Quantitative trait loci (QTLs) for grain quality, yield components and other traits were investigated in two Sorghum caudatumguinea\\u000a recombinant inbred line (RIL) populations. A total of 16 traits were evaluated (plant height, panicle length, panicle compactness,\\u000a number of kernels\\/panicle, thousand-kernel weight, kernel weight\\/panicle, threshing percentage, dehulling yield, kernel flouriness,\\u000a kernel friability, kernel hardness, amylose content, protein content, lipid content, germination

J.-F. Rami; P. Dufour; G. Trouche; G. Fliedel; C. Mestres; F. Davrieux; P. Blanchard; P. Hamon

1998-01-01

305

Influence of personality traits on gingival health  

PubMed Central

Background: The maintenance of good oral hygiene is considered a salient issue in dental health promotion. Personality is the combination of characteristics or qualities that form an individual's distinctive character. Various personality traits have been proposed to influence the oral health. The purpose of the present study was to assess the influence of personality characteristics using questionnaire on oral hygiene performance and gingival health. Materials and Methods: In total, 155 patients were subjected to personality questionnaire using Eysenck Personality Questionnaire. Clinical parameters such as Patient oral hygiene performance index and gingival index were recorded. Based on Eysenck Personality Questionnaire, the subjects were divided into three groups: Psychoticism, extroversion, and neuroticism. Results: Data analysis showed that subjects in psychoticism and neuroticism groups displayed moderate gingivitis, whereas subjects in extroversion group had severe gingivitis. Subjects in all the three groups demonstrated poor oral hygiene status. No statistically significant relation was found. Conclusions: A considerable clinical correlation was observed between the different personality traits and gingival health status of the subjects. It was not statistically significant. Further trials need to be conducted so as to ascertain this association so that psychological interventions may be undertaken to improve the oral hygiene condition of the population.

Shanker, Rajesh Kashyap; Mohamed, Munaz; Hegde, Shashikanth; Kumar, M. S. Arun

2013-01-01

306

Advances in Quantitative Trait Analysis in Yeast  

PubMed Central

Understanding the genetic mechanisms underlying complex traits is one of the next frontiers in biology. The budding yeast Saccharomyces cerevisiae has become an important model for elucidating the mechanisms that govern natural genetic and phenotypic variation. This success is partially due to its intrinsic biological features, such as the short sexual generation time, high meiotic recombination rate, and small genome size. Precise reverse genetics technologies allow the high throughput manipulation of genetic information with exquisite precision, offering the unique opportunity to experimentally measure the phenotypic effect of genetic variants. Population genomic and phenomic studies have revealed widespread variation between diverged populations, characteristic of man-made environments, as well as geographic clusters of wild strains along with naturally occurring recombinant strains (mosaics). Here, we review these recent studies and provide a perspective on how these previously unappreciated levels of variation can help to bridge our understanding of the genotype-phenotype gap, keeping budding yeast at the forefront of genetic studies. Not only are quantitative trait loci (QTL) being mapped with high resolution down to the nucleotide, for the first time QTLs of modest effect and complex interactions between these QTLs and between QTLs and the environment are being determined experimentally at unprecedented levels using next generation techniques of deep sequencing selected pools of individuals as well as multi-generational crosses.

Liti, Gianni; Louis, Edward J.

2012-01-01

307

Neural substrates of trait ruminations in depression.  

PubMed

Rumination in depression is a risk factor for longer, more intense, and harder-to-treat depressions. But there appear to be multiple types of depressive rumination-whether they all share these vulnerability mechanisms, and thus would benefit from the same types of clinical attention is unclear. In the current study, we examined neural correlates of empirically derived dimensions of trait rumination in 35 depressed participants. These individuals and 29 never-depressed controls completed 17 self-report measures of rumination and an alternating emotion-processing/executive-control task during functional MRI (fMRI) assessment. We examined associations of regions of interest--the amygdala and other cortical regions subserving a potential role in deficient cognitive control and elaborative emotion-processing--with trait rumination. Rumination of all types was generally associated with increased sustained amygdala reactivity. When controlling for amygdala reactivity, distinct activity patterns in hippocampus were also associated with specific dimensions of rumination. We discuss the possibly utility of targeting more basic biological substrates of emotional reactivity in depressed patients who frequently ruminate. PMID:24661157

Mandell, Darcy; Siegle, Greg J; Shutt, Luann; Feldmiller, Josh; Thase, Michael E

2014-02-01

308

Variants of beta-glucosidases  

DOEpatents

The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

Fidantsef, Ana (Davis, CA) [Davis, CA; Lamsa, Michael (Davis, CA) [Davis, CA; Clancy, Brian Gorre (Elk Grove, CA) [Elk Grove, CA

2008-08-19

309

Gyrokinetic simulations at finite beta  

NASA Astrophysics Data System (ADS)

Understanding anomalous transport in plasmas at pressures approaching the ideal MHD balloon limit is of great importance to projections of ITER operations. Past efforts to simulate plasma microturbulence as beta is increased toward the ideal limit have met with mixed success. We investigate this problem by comparing results from the GYRO, GS2, GEM, and GENE codes over a sequence of runs in which beta is increased toward the ideal ballooning limit. We will also comment on finite-beta effects to trapped electron modes. see, e.g., J. Candy et al, Phys. Plasmas 12, 072307 (2005), and references therein.

Nevins, William; Candy, Jeff; Chen, Yang; Dorland, William; Ernst, Darin; Jenko, Frank; Hammett, Greg; Parker, Scott; Waltz, Ron; Wang, Eric

2008-11-01

310

Variants of beta-glucosidase  

DOEpatents

The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

Fidantsef, Ana (Davis, CA); Lamsa, Michael (Davis, CA); Gorre-Clancy, Brian (Elk Grove, CA)

2009-12-29

311

Digging into the extremes: a useful approach for the analysis of rare variants with continuous traits?  

PubMed Central

The common disease/rare variant hypothesis predicts that rare variants with large effects will have a strong impact on corresponding phenotypes. Therefore it is assumed that rare functional variants are enriched in the extremes of the phenotype distribution. In this analysis of the Genetic Analysis Workshop 17 data set, my aim is to detect genes with rare variants that are associated with quantitative traits using two general approaches: analyzing the association with the complete distribution of values by means of linear regression and using statistical tests based on the tails of the distribution (bottom 10% of values versus top 10%). Three methods are used for this extreme phenotype approach: Fisher’s exact test, weighted-sum method, and beta method. Rare variants were collapsed on the gene level. Linear regression including all values provided the highest power to detect rare variants. Of the three methods used in the extreme phenotype approach, the beta method performed best. Furthermore, the sample size was enriched in this approach by adding additional samples with extreme phenotype values. Doubling the sample size using this approach, which corresponds to only 40% of sample size of the original continuous trait, yielded a comparable or even higher power than linear regression. If samples are selected primarily for sequencing, enriching the analysis by gathering a greater proportion of individuals with extreme values in the phenotype of interest rather than in the general population leads to a higher power to detect rare variants compared to analyzing a population-based sample with equivalent sample size.

2011-01-01

312

Beta-gamma discriminator circuit  

SciTech Connect

The major difficulty encountered in the determination of beta-ray dose in field conditions is generally the presence of a relatively high gamma-ray component. Conventional dosimetry instruments use a shield on the detector to estimate the gamma-ray component in comparison with the beta-ray component. More accurate dosimetry information can be obtained from the measured beta spectrum itself. At Los Alamos, a detector and discriminator circuit suitable for use in a portable spectrometer have been developed. This instrument will discriminate between gammas and betas in a mixed field. The portable package includes a 256-channel MCA which can be programmed to give a variety of outputs, including a spectral display, and may be programmed to read dose directly.

Erkkila, B.H.; Wolf, M.A.; Eisen, Y.; Unruh, W.P.; Brake, R.J.

1984-01-01

313

Beta particle monitor for surfaces  

DOEpatents

A beta radiation detector which is capable of reliably detecting beta radiation emitted from a surface. An electrically conductive signal collector is adjustably mounted inside an electrically conductive enclosure which may define a single large opening for placing against a surface. The adjustable mounting of the electrically conductive signal collector can be based on the distance from the surface or on the expected beta energy range. A voltage source is connected to the signal collector through an electrometer or other display means for creating an electric field between the signal collector and the enclosure. Air ions created by the beta radiation are collected and the current produced is indicated on the electrometer or other display means. 2 figs.

MacArthur, D.W.

1997-10-21

314

Towards identifying genes underlying ecologically relevant traits in Arabidopsis thaliana  

Microsoft Academic Search

A major challenge in evolutionary biology and plant breeding is to identify the genetic basis of complex quantitative traits, including those that contribute to adaptive variation. Here we review the development of new methods and resources to fine-map intraspecific genetic variation that underlies natural phenotypic variation in plants. In particular, the analysis of 107 quantitative traits reported in the first

Fabrice Roux; Joy Bergelson

2010-01-01

315

The hierarchical structure of DSM-5 pathological personality traits.  

PubMed

A multidimensional trait system has been proposed for representing personality disorder (PD) features in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) to address problematic classification issues such as comorbidity. In this model, which may also assist in providing scaffolding for the underlying structure of major forms of psychopathology more generally, 25 primary traits are organized by 5 higher order dimensions: Negative Affect, Detachment, Antagonism, Disinhibition, and Psychoticism. We examined (a) the generalizability of the structure proposed for DSM-5 PD traits, and (b) the potential for an integrative hierarchy based upon DSM-5 PD traits to represent the dimensions scaffolding psychopathology more generally. A large sample of student participants (N = 2,461) completed the Personality Inventory for DSM-5, which operationalizes the DSM-5 traits. Exploratory factor analysis replicated the initially reported 5-factor structure, as indicated by high factor congruencies. The 2-, 3-, and 4-factor solutions estimated in the hierarchy of the DSM-5 traits bear close resemblance to existing models of common mental disorders, temperament, and personality pathology. Thus, beyond the description of individual differences in personality disorder, the trait dimensions might provide a framework for the metastructure of psychopathology in the DSM-5 and the integration of a number of ostensibly competing models of personality trait covariation. PMID:22448740

Wright, Aidan G C; Thomas, Katherine M; Hopwood, Christopher J; Markon, Kristian E; Pincus, Aaron L; Krueger, Robert F

2012-11-01

316

Psychopathic Traits, Victim Distress and Aggression in Children  

ERIC Educational Resources Information Center

Background: The relationship between psychopathic traits and aggression in children may be explained by their reduced sensitivity to signs of distress in others. Emotional cues such as fear and sadness function to make the perpetrator aware of the victim's distress and supposedly inhibit aggression. As children high in psychopathic traits show a…

van Baardewijk, Yoast; Stegge, Hedy; Bushman, Brad J.; Vermeiren, Robert

2009-01-01

317

Higher-Order Item Response Models for Hierarchical Latent Traits  

ERIC Educational Resources Information Center

Many latent traits in the human sciences have a hierarchical structure. This study aimed to develop a new class of higher order item response theory models for hierarchical latent traits that are flexible in accommodating both dichotomous and polytomous items, to estimate both item and person parameters jointly, to allow users to specify…

Huang, Hung-Yu; Wang, Wen-Chung; Chen, Po-Hsi; Su, Chi-Ming

2013-01-01

318

Statistics Anxiety, Trait Anxiety, Learning Behavior, and Academic Performance  

ERIC Educational Resources Information Center

The present study investigated the relationship between statistics anxiety, individual characteristics (e.g., trait anxiety and learning strategies), and academic performance. Students enrolled in a statistics course in psychology (N = 147) filled in a questionnaire on statistics anxiety, trait anxiety, interest in statistics, mathematical…

Macher, Daniel; Paechter, Manuela; Papousek, Ilona; Ruggeri, Kai

2012-01-01

319

Personality traits and perceived social support among depressed older adults  

Microsoft Academic Search

The contribution of personality traits and social support to mental health is well established, but to our knowledge there have been no longitudinal investigations of the relation between personality and social support in depressed older adults. In the current study, we examined a repeated measures multi-level mixed model of change in perceived social support to determine whether personality traits and

Kelly C. Cukrowicz; Alexis T. Franzese; Steven R. Thorp; Jennifer S. Cheavens; Thomas R. Lynch

2008-01-01

320

Assembling Tests for the Measurement of Multiple Traits.  

ERIC Educational Resources Information Center

For measurement of multiple traits, this paper proposes assembling tests based on the targets for the variance functions of the estimators of each of the traits. A linear programming model is presented to computerize the assembly process. An example of test assembly from a two-dimensional item pool is provided. (SLD)

van der Linden, Wim J.

1996-01-01

321

Psychopathic Traits of Dutch Adolescents in Residential Care: Identifying Subgroups  

ERIC Educational Resources Information Center

The present study examined whether a sample of 214 (52.8% male, M age = 15.76, SD = 1.29) institutionalized adolescents could be classified into subgroups based on psychopathic traits. Confirmatory Factor Analyses revealed a relationship between the subscales of the Youth Psychopathic traits Inventory (YPI) and the three latent constructs of the…

Nijhof, Karin S.; Vermulst, Ad; Scholte, Ron H. J.; van Dam, Coleta; Veerman, Jan Willem; Engels, Rutger C. M. E.

2011-01-01

322

Genetic and Environmental Effects on Complex Traits in Mice  

Microsoft Academic Search

The interaction between genotype and environment is recognized as an important source of experimental variation when complex traits are measured in the mouse, but the magnitude of that interaction has not often been measured. From a study of 2448 genetically heterogeneous mice, we report the heritability of 88 complex traits that include models of human disease (asthma, type 2 diabetes

William Valdar; Leah C. Solberg; Dominique Gauguier; William O. Cookson; J. N. P. Rawlins; R. Mott; J. Flint

2006-01-01

323

Charismatic Behaviors and Traits of Future Educational Leaders.  

ERIC Educational Resources Information Center

This paper examines the charismatic behaviors and traits entering graduate students bring to their training as future educational leaders and explores the differences in gender, age, marital status, position held, and sibling ranks of entering graduate students regarding charismatic behaviors and traits. The exploratory descriptive study examined…

Serafin, Ana Gil

324

Measurement of anxious traits: a contemporary review and synthesis.  

PubMed

Trait anxiety is a characteristic predisposition to appraise stimuli as threatening and respond with anxiety. Trait anxiety is proposed to serve as a vulnerability factor for greater frequency and intensity of anxiety experiences as well as the development of anxious pathology. Cognitive, behavioral, and physiological components of trait anxiety have been described. Common self-report measures of trait anxiety are reviewed with an emphasis on: components assessed, factor structure, internal consistency, reliability, and construct validity. Measures were selected if instructions ask individuals to endorse items based on their characteristic, rather than a time sensitive, response. Selection criteria resulted in a focus on the following measures: the State-Trait Anxiety Inventory (STAI), Beck Anxiety Inventory-Trait (BAIT), Cognitive Somatic Anxiety Questionnaire (CSAQ), Endler Multidimensional Anxiety Scales-Trait (EMAS-T), Four Systems Anxiety Questionnaire (FSAQ), State-Trait Inventory for Cognitive and Somatic Anxiety (STICSA), and the Three Systems Anxiety Questionnaire (TSAQ). While the STAI has the advantage of normative data and frequent use in prior research, newer measures, such as the BAIT and the STICSA, demonstrate greater discriminant validity. The strengths and weaknesses of each of the reviewed measures are highlighted. Recommendations for measure selection and future research are provided. PMID:21644113

Elwood, Lisa S; Wolitzky-Taylor, Kate; Olatunji, Bunmi O

2012-11-01

325

Development of a Scale Measuring Trait Anxiety in Physical Education  

ERIC Educational Resources Information Center

The aim of the present study was to examine the validity and reliability of a multi-dimensional measure of trait anxiety specifically designed for the physical education lesson. The Physical Education Trait Anxiety Scale was initially completed by 774 high school students during regular school classes. A confirmatory factor analysis supported the…

Barkoukis, Vassilis; Rodafinos, Angelos; Koidou, Eirini; Tsorbatzoudis, Haralambos

2012-01-01

326

A Simplified Estimation of Latent State--Trait Parameters  

ERIC Educational Resources Information Center

The latent state-trait (LST) theory is an extension of the classical test theory that allows one to decompose a test score into a true trait, a true state residual, and an error component. For practical applications, the variances of these latent variables may be estimated with standard methods of structural equation modeling (SEM). These…

Hagemann, Dirk; Meyerhoff, David

2008-01-01

327

Development of Sex-Trait Stereotype Awareness among Korean Children.  

ERIC Educational Resources Information Center

Assumptions regarding the development of Korean children's awareness of sex-trait stereotypes derived with the SSM II, a measurement device developed on the basis of American stereotypes, were tested using a Korean Sex-Trait Stereotype Measure (KSSM), developed on the basis of Korean stereotypes. Results indicated Korean children's awareness of…

Lee, Jae Yeon; Sugawara, Alan I.

1994-01-01

328

Recognizing Faces Based on Inferred Traits in Autism Spectrum Disorders  

ERIC Educational Resources Information Center

Recent findings indicate that individuals with autism spectrum disorders (ASD) could, surprisingly, infer traits from behavioural descriptions. Now we need to know whether or not individuals with ASD are able to use trait information to identify people by their faces. In this study participants with and without ASD were presented with pairs of…

Ramachandran, Rajani; Mitchell, Peter; Ropar, Danielle

2010-01-01

329

The Hierarchical Structure of DSM-5 Pathological Personality Traits  

PubMed Central

A multidimensional trait system has been proposed for representing personality disorder (PD) features in DSM-5 to address problematic classification issues such as comorbidity. In this model, which may also assist in providing scaffolding for the underlying structure of major forms of psychopathology more generally, 25 primary traits are organized by 5 higher order dimensions: Negative Affect, Detachment, Antagonism, Disinhibition, and Psychoticism. We examined a) the generalizability of the structure proposed for DSM-5 PD traits and b) the potential for an integrative hierarchy based upon DSM-5 PD traits to represent the dimensions scaffolding psychopathology more generally. A large sample of student participants (N=2,461) completed the Personality Inventory for DSM-5, which operationalizes the DSM-5 traits. Exploratory factor analysis replicated the initially reported five-factor structure as indicated by high factor congruencies. The two-, three-, and four- factor solutions estimated in the hierarchy of the DSM-5 traits bear close resemblance to existing models of common mental disorders, temperament, and personality pathology. Thus, beyond the description of individual differences in personality disorder, the trait dimensions might provide a framework for the metastructure of psychopathology in the DSM-5 and the integration of a number of ostensibly competing models of personality trait covariation.

Wright, Aidan G.C.; Thomas, Katherine M.; Hopwood, Christopher J.; Markon, Kristian E.; Pincus, Aaron L.; Krueger, Robert F.

2012-01-01

330

Emotional Intelligence Abilities and Traits in Different Career Paths  

ERIC Educational Resources Information Center

Two studies tested hypotheses about differences in emotional intelligence (EI) abilities and traits between followers of different career paths. Compared to their social science peers, science students had higher scores in adaptability and general mood traits measured with the Emotion Quotient Inventory, but lower scores in strategic EI abilities…

Kafetsios, Konstantinos; Maridaki-Kassotaki, Aikaterini; Zammuner, Vanda L.; Zampetakis, Leonidas A.; Vouzas, Fotios

2009-01-01

331

How Do Trait Dimensions Map onto ADHD Symptom Domains?  

ERIC Educational Resources Information Center

Theories of Attention-Deficit/Hyperactivity Disorder (ADHD) implicate dysfunctional regulation mechanisms that have been conceptually grouped into "top-down" control and "bottom-up" affective/reactive processes. This dual-process account can be invoked in relation to temperament or personality traits and may clarify how traits relate to ADHD. Two…

Martel, Michelle M.; Nigg, Joel T.; von Eye, Alexander

2009-01-01

332

Effects of Marathon Group Therapy on Trait and State Anxiety  

ERIC Educational Resources Information Center

Results were interpreted as supporting Spielberger's notion that trait anxiety reflects a dispositional tendency to respond with anxiety in ego-threat situations and as suggesting that personality trait measures may be more relevant outcome indicators than measures of transitory mood states in marathon therapy research. (Author)

Kilmann, Peter R.; Auerbach, Stephen M.

1974-01-01

333

Bivariate association analysis for quantitative traits using generalized estimation equation.  

PubMed

Quantitative traits often underlie risk for complex diseases. Many studies collect multiple correlated quantitative phenotypes and perform univariate analyses on each of them respectively. However, this strategy may not be powerful and has limitations to detect pleiotropic genes that may underlie correlated quantitative traits. In addition, testing multiple traits individually will exacerbate perplexing problem of multiple testing. In this study, generalized estimating equation 2 (GEE2) is applied to association mapping of two correlated quantitative traits. We suppose that a quantitative trait locus is located in a chromosome region that exerts pleiotropic effects on multiple quantitative traits. In that region, multiple SNPs are genotyped. Genotypes of these SNPs and the two quantitative traits affected by a causal SNP were simulated under various parameter values: residual correlation coefficient between two traits, causal SNP heritability, minor allele frequency of the causal SNP, extent of linkage disequilibrium with the causal SNP, and the test sample size. By power analytical analyses, it is showed that the bivariate method is generally more powerful than the univariate method. This method is robust and yields false-positive rates close to the pre-set nominal significance level. Our real data analyses attested to the usefulness of the method. PMID:20129400

Yang, Fang; Tang, Zihui; Deng, Hongwen

2009-12-01

334

Characterization of a spontaneous mutation to a beta-thalassemia allele.  

PubMed Central

We have studied a nuclear family containing a single child with severe beta-thalassemia intermedia, a Greek-Cypriot mother with hematological findings of beta-thalassemia trait, and a Polish father who is hematologically normal. Since both the child and her father were heterozygous for a DNA polymorphism within the beta-globin gene, it was possible to clone and sequence the beta-globin gene identical by descent from both the child and her father. A nonsense mutation in codon 121 (GAA----TAA) was found in the beta-globin gene of the child, while the same gene from her father lacked this mutation and was normal. This mutation has not been previously observed among over 200 beta-thalassemia genes characterized in Caucasians. Since the mutation eliminates an EcoRI site in the beta-globin gene, we could show that the mutation is not present in genomic DNA of the father. To rule out germinal mosaicism, sperm DNA of the father was also digested with EcoRI, and the mutant EcoRI fragment was not observed under conditions that would detect the mutation if it were present in at least 2% of sperm cells. Routine HLA and blood group testing supported stated paternity. In addition, studies with 17 DNA probes that detect multiple allele polymorphisms increased the probability of stated paternity to at least 10(8):1. These data provide evidence that the G----T change in codon 121 of the beta-globin gene in the child is the result of a spontaneous mutation that occurred during spermatogenesis in a paternal germ cell. Images Fig. 2 Fig. 3

Kazazian, H H; Orkin, S H; Boehm, C D; Goff, S C; Wong, C; Dowling, C E; Newburger, P E; Knowlton, R G; Brown, V; Donis-Keller, H

1986-01-01

335

Genetic parameters of feeding behavior traits and their relationship with live performance traits in modern broiler lines.  

PubMed

Current selection goals in broiler breeding focus on the improvement of live performance traits, such as feed intake, BW, and feed conversion ratio (FCR). The use of electronic feeders allows measurement of feed intake of individuals housed in groups as well as the identification of different feeding behaviors. Feed intake can thus be split into underlying feeding behavior traits, allowing the estimation of genetic correlations and assessment of the genetic consequences of selecting for performance traits on feeding behavior traits. To investigate the genetic relationships between performance traits and feeding behavior, data of visits to feeders by birds from 4 lines of broilers that differed in selection focus on growth and FCR were analyzed. Visits were recorded electronically and grouped into meals using an existing model for estimating meal criteria. Mean individual feeding behavior traits were then calculated across the entire test period (2 to 5 wk of age). Records were available for between 14,000 and 18,000 birds/line. Analyzed feeding behavior traits were meals per day, meal size, visits per meal, meal duration, nonfeeding time in meal, time feeding per day, proportion of meal spent feeding, feeding rate, and ADFI. Analyzed performance traits were 35-d BW, total feed intake over the entire test period, and FCR. All feeding behavior traits showed moderate to high heritabilities (0.24 to 0.57) but low genetic correlations with performance traits (-0.20 to 0.18), except for ADFI, which was moderately correlated with total intake on test (0.57) and highly correlated with FCR (0.91). The low genetic correlations indicate that the difference in selection intensity among lines for these performance traits has had limited effect on feeding behavior. Different feeding strategies that would result in favorable breeding values for FCR were identified, adding opportunities for further improvements in feed efficiency within and across environments. PMID:21597059

Howie, J A; Avendano, S; Tolkamp, B J; Kyriazakis, I

2011-06-01

336

Beta function and anomalous dimensions  

SciTech Connect

We demonstrate that it is possible to determine the coefficients of an all-orders beta-function linear in the anomalous dimensions using as data the 2-loop coefficients together with the first one of the anomalous dimensions which are universal. The beta function allows us to determine the anomalous dimension of the fermion masses at the infrared fixed point, and the resulting values compare well with the lattice determinations.

Pica, Claudio; Sannino, Francesco [CP3-Origins, University of Southern Denmark, Campusvej 55, DK-5230 Odense M (Denmark)

2011-06-01

337

Beta Beams for Neutrino Production  

NASA Astrophysics Data System (ADS)

To use accelerated beta active radioactive ions to produce collimated high energy neutrino beams was proposed by P. Zuchelli in 2002. Since then, several ideas related to how to design Beta Beam facilities have been studied. Design studies of an accelerator complex, based on CERN accelerators, have been supported by research programs within the European Commisison FP6 and FP7 frameworks (EURISOL Design Study and EUROnu). In these studies 6He and 18Ne are used as beta emitters to produce antineutrinos and neutrinos respectively. Alternative isotopes for neutrino beam production, 8Li and 8B, are investigated in the now ongoing study, EUROnu. Due to the higher reaction Q-value of these ions, the resulting neutrino energies are higher. The isotopes we need for neutrino beams have to be produced in large quantities using non conventional methods. Latest research on production of isotopes that are presently considered for Beta Beams will be discussed. The work achieved gives a good ground to propose the Beta Beam, which is based on known technology, for neutrino production. In this status review we concentrate on technical issues related to a possible Beta Beam facility using the CERN infrastructure.

Wildner, E.

2012-08-01

338

Land-plant ecology on the basis of functional traits.  

PubMed

The tissue traits and architectures of plant species are important for land-plant ecology in two ways. First, they control ecosystem processes and define habitat and resources for other taxa; thus, they are a high priority for understanding the ecosystem at a site. Second, knowledge of trait costs and benefits offers the most promising path to understanding how vegetation properties change along physical geography gradients. There exists an informal shortlist of plant traits that are thought to be most informative. Here, we summarize recent research on correlations and tradeoffs surrounding some traits that are prospects for the shortlist. By extending the list and by developing better models for how traits influence species distributions and interactions, a strong foundation of basic ecology can be established, with many practical applications. PMID:16697912

Westoby, Mark; Wright, Ian J

2006-05-01

339

Statistical classification methods for estimating ancestry using morphoscopic traits.  

PubMed

Ancestry assessments using cranial morphoscopic traits currently rely on subjective trait lists and observer experience rather than empirical support. The trait list approach, which is untested, unverified, and in many respects unrefined, is relied upon because of tradition and subjective experience. Our objective was to examine the utility of frequently cited morphoscopic traits and to explore eleven appropriate and novel methods for classifying an unknown cranium into one of several reference groups. Based on these results, artificial neural networks (aNNs), OSSA, support vector machines, and random forest models showed mean classification accuracies of at least 85%. The aNNs had the highest overall classification rate (87.8%), and random forests show the smallest difference between the highest (90.4%) and lowest (76.5%) classification accuracies. The results of this research demonstrate that morphoscopic traits can be successfully used to assess ancestry without relying only on the experience of the observer. PMID:24646108

Hefner, Joseph T; Ousley, Stephen D

2014-07-01

340

Lizard thermal trait variation at multiple scales: a review.  

PubMed

Thermal trait variation is of fundamental importance to forecasting the impacts of environmental change on lizard diversity. Here, we review the literature for patterns of variation in traits of upper and lower sub-lethal temperature limits, temperature preference and active body temperature in the field, in relation to space, time and phylogeny. Through time, we focus on the direction and magnitude of trait change within days, among seasons and as a consequence of acclimation. Across space, we examine altitudinal and latitudinal patterns, incorporating inter-specific analyses at regional and global scales. This synthesis highlights the consistency or lack thereof, of thermal trait responses, the relative magnitude of change among traits and several knowledge gaps identified in the relationships examined. We suggest that physiological information is becoming essential for forecasting environmental change sensitivity of lizards by providing estimates of plasticity and evolutionary scope. PMID:23989339

Clusella-Trullas, Susana; Chown, Steven L

2014-01-01

341

An Increased Percentage of Long Amyloid beta Protein Secreted by Familial Amyloid beta Protein Precursor (betaAPP717) Mutants  

Microsoft Academic Search

Normal processing of the amyloid beta protein precursor (betaAPP) results in secretion of a soluble 4-kilodalton protein essentially identical to the amyloid beta protein (Abeta) that forms insoluble fibrillar deposits in Alzheimer's disease. Human neuroblastoma (M17) cells transfected with constructs expressing wild-type betaAPP or the betaAPP717 mutants linked to familial Alzheimer's disease were compared by (i) isolation of metabolically labeled

Nobuhiro Suzuki; Tobun T. Cheung; Xiao-Dan Cai; Asano Odaka; Laszlo Otvos Jr.; Christopher Eckman; Todd E. Golde; Steven G. Younkin

1994-01-01

342

Male reproductive traits and their relationship to reproductive traits in their female progeny: a systematic review.  

PubMed

The overall objective of one of the major research programs in the Co-operative Research Centre (CRC) for Beef Genetic Technologies is to 'Improve female reproductive performance' in tropical, northern Australian beef cattle herds. To address this overall objective, a quantitative genetics project focused on investigation of male reproductive traits was designed and linked to three female reproduction-focussed projects, (i) discovery of genes associated with post-partum re-conception and age at puberty; (ii) expression of genes associated with post-partum re-conception; and (iii) early predictors of lifetime female reproductive performance. During the initial planning of this male reproductive traits project, the CRC Scientific Review Committee recommended that the research team investigate and evaluate potentially new, early-life (i.e able to be measured before 2 years of age) predictors of both male and female reproductive performance. To address this recommendation, the following was carried out: (i) criteria for selection of traditional and candidate traits were established; (ii) methodology for tabulation of potential traits/phenotypes that define male and female reproductive function was developed; and (iii) a systematic scientific review of early-life predictors of male and female fertility was prepared. This review concluded that although factors that might be useful in predicting male reproductive performance have been studied for many years, there was relatively little useful information available to meet the objectives of this review. It was also concluded that the direction of future research should be guided not only by previous research which was scarce, but also by speculative hypotheses arising from an understanding of the physiological, endocrinological and genetic processes active in reproduction. A small number of new traits were recommended in addition to traditional sperm morphology, sexual behaviour, anatomical structure and growth traits. Potential additional traits include measurement of gonadotrophin-releasing hormone-stimulated luteinizing hormone (GnRH-stimulated LH); inhibin; several seminal plasma proteins (osteopontin, spermadhesin and seminal plasma proteins BSP30 and phospholipase A(2) could be used in an index); 11?-hydroxysteriod dehydrogenase; and leptin. In addition, the potential also exists to screen animals for a number of genetic markers associated with age of puberty, follicular recruitment and ovulation rate and genes associated with bovine seminal plasma protein and testosterone production. Insulin-like growth factor-1 (IGF-1) measurements are included because of their association with growth parameters, and an additional analysis demonstrated associations with male and female reproductive traits. Some of these factors have been previously evaluated in small numbers of animals of various species under intensive management conditions. Therefore, there is a need to evaluate these factors in much larger numbers of beef cattle grazing semi-extensive tropical production systems in northern Australia to determine their value in improving beef cattle enterprise profitability through improved herd fertility. PMID:21332828

Burns, B M; Gazzola, C; Holroyd, R G; Crisp, J; McGowan, M R

2011-06-01

343

Variability of Root Traits in Spring Wheat Germplasm  

PubMed Central

Root traits influence the amount of water and nutrient absorption, and are important for maintaining crop yield under drought conditions. The objectives of this research were to characterize variability of root traits among spring wheat genotypes and determine whether root traits are related to shoot traits (plant height, tiller number per plant, shoot dry weight, and coleoptile length), regions of origin, and market classes. Plants were grown in 150-cm columns for 61 days in a greenhouse under optimal growth conditions. Rooting depth, root dry weight, root: shoot ratio, and shoot traits were determined for 297 genotypes of the germplasm, Cultivated Wheat Collection (CWC). The remaining root traits such as total root length and surface area were measured for a subset of 30 genotypes selected based on rooting depth. Significant genetic variability was observed for root traits among spring wheat genotypes in CWC germplasm or its subset. Genotypes Sonora and Currawa were ranked high, and genotype Vandal was ranked low for most root traits. A positive relationship (R2?0.35) was found between root and shoot dry weights within the CWC germplasm and between total root surface area and tiller number; total root surface area and shoot dry weight; and total root length and coleoptile length within the subset. No correlations were found between plant height and most root traits within the CWC germplasm or its subset. Region of origin had significant impact on rooting depth in the CWC germplasm. Wheat genotypes collected from Australia, Mediterranean, and west Asia had greater rooting depth than those from south Asia, Latin America, Mexico, and Canada. Soft wheat had greater rooting depth than hard wheat in the CWC germplasm. The genetic variability identified in this research for root traits can be exploited to improve drought tolerance and/or resource capture in wheat.

Narayanan, Sruthi; Mohan, Amita; Gill, Kulvinder S.; Prasad, P. V. Vara

2014-01-01

344

Genetic correlations between growth and reproductive traits in Zandi sheep.  

PubMed

For the first time, the current study reports the genetic and phenotypic correlations between growth and reproductive traits in Zandi sheep. The data were comprised of 4,309 records of lamb growth traits from 1,378 dams and 273 sires plus 2,588 records of reproductive traits from 577 ewes. These data were extracted from available performance records at Khojir Breeding Station of Zandi sheep in Tehran, Iran, from 1993 to 2008. Correlations were estimated from two animal models in a bivariate analysis using restricted maximum likelihood procedure between lamb growth traits [birth weight (BW), weaning weight at 3 months of age (WW), as well as six-month weight (6 MW)] and ewe reproductive traits [litter size at birth (LSB), litter size at weaning (LSW), total litter weight at birth (TLWB), and total litter weight at weaning (TLWW)]. The genetic correlations between BW and reproductive traits varied from low to high ranges from 0.10 for BW-LSB to 0.86 for BW-TLWB. WW was moderately (0.37) to highly (0.96) correlated with all the reproductive traits. Moreover, the genetic correlations were observed between 6 MW and reproductive traits, varied from 0.19 to 0.95. Relationships between growth and reproductive traits ranged from 0.01 for BW-LSW to 0.28 for BW-TLWB in phenotypic effects. Results indicated that selection to improve WW would have high effect on genetic response in TLWW, and also, these results could be effective for all of the reproductive traits in Zandi sheep. PMID:24705699

Mohammadi, Kourosh; Beigi Nassiri, Mohammad Taghi; Rahmatnejad, Enayat; Abdollahi-Arpanahi, Rostam; Hossaini, Seyed Mohammad Reza; Hagh Nadar, Saman

2014-06-01

345

Quantitative trait loci for carcass traits on pig chromosomes 4, 6, 7, 8 and 13  

Microsoft Academic Search

For 22 carcass traits, we identified 16 QTLs (based on data for pig resource population no. 214, including 180 F2 hybrids of 3 Yorkshire boars and 8 Meishan sows) and mapped them with the use of 39 microsatellite marker loci on chromosomes\\u000a 4, 6, 7, 8 and 13. Five QTLs were highly significant (P ? 0.01 at chromosome level): for

Jing Hu Zhang; Yuan Zhu Xiong; Bo Zuo; Ming Gang Lei; Si Wen Jiang; Feng E Li; Rong Zheng; Jia Lian Li; Quan De Xu

2007-01-01

346

Quantative trait loci of seed traits for soybean in multiple environments.  

PubMed

Seed length and seed width are an important factor to the soybean yield. So the quantitative trait loci (QTL) location for seed length and seed width could assistant the breeding of soybean. In this study, the QTL underlying seed length and seed width were studied. A recombinant inbred line population of soybeans derived from a cross between the American semi-draft cultivars Charleston and Dongnong 594 were used in 7 environments. The quantitative trait loci underlying seed length, seed width, and seed length/seed width were analyzed by the method of composite interval mapping. Then, the epistatic effects and the QTL-environment (QE) interaction effects were also analyzed. Some valuable QTL sites found had great effect to the seed trait. Results showed that 7 QTLs underlying seed length were identified mainly on linkage groups D1a, C2, B1, A1, G, and A2. For the seed width, 7 QTLs were identified on linkage groups D1a and O. Two QTLs of seed length/seed width were identified on linkage groups D1b and C2. No QE interaction was found for QTLs of seed length and seed width in 7 environments. QTLs of seed length/seed width on linkage groups A1 and I had a QE interaction in 7 environments. Seven pairs of QTLs were identified that affected additive x additive epistatic effect of seed length, seed width, and seed length/seed width, which occurred among 8 linkage groups. These results supply a good foundation for molecular assistant breeding for soybean seed trait. PMID:24938611

Che, J Y; Ding, J J; Liu, C Y; Xin, D W; Jiang, H W; Hu, G H; Chen, Q S

2014-01-01

347

Comparing the adaptive landscape across trait types: larger QTL effect size in traits under biotic selection  

Microsoft Academic Search

Background  In a spatially and temporally variable adaptive landscape, mutations operating in opposite directions and mutations of large\\u000a effect should be commonly fixed due to the shifting locations of phenotypic optima. Similarly, an adaptive landscape with\\u000a multiple phenotypic optima and deep valleys of low fitness between peaks will favor mutations of large effect. Traits under\\u000a biotic selection should experience a more

Allison M Louthan; Kathleen M Kay

2011-01-01

348

MCMI–II Personality Traits and Symptom Traits in Parents of Children With Selective Mutism: A Case–Control Study  

Microsoft Academic Search

The etiology of selective mutism (SM) in children is unknown but is regarded as multifactorial. SM is frequently associated with social anxiety and language disorder or delay. The present study addresses SM and social anxiety as a familial phenomenon by comparing self-reported personality traits and symptom traits (Millon Clinical Multiaxial Inventory; T. Millon, 1987) in parents of 50 SM children

Hanne Kristensen; Svenn Torgersen

2001-01-01

349

Molecular Marker-Assisted Dissection of Quantitative Trait Loci for seven Morphological Traits in Rice ( Oryza Sativa L.)  

Microsoft Academic Search

Summary  The genetic dissection of morphological traits can helpful to evaluate their potential values as markers for rice genetic improvement. In this study, a RI population derived from a cross from Zhenshan97 and IRAT109 was used to dissect the genetic bases of seven morphological traits such as leaf sheath color (LSC), grain apiculus color (GAC), grain hairiness density (GHD), grain awn

Bing Yue; Kehui Cui; Shibin Yu; Weiya Xue; Lijun Luo; Yongzhong Xing

2006-01-01

350

Multiple trait model combining random regressions for daily feed intake with single measured performance traits of growing pigs  

Microsoft Academic Search

A random regression model for daily feed intake and a conventional multiple trait animal model for the four traits average daily gain on test (ADG), feed conversion ratio (FCR), carcass lean content and meat quality index were combined to analyse data from 1 449 castrated male Large White pigs performance tested in two French central testing stations in 1997. Group

Urs Schnyder; Andreas Hofer; Florence Labroue; Niklaus Künzi

2002-01-01

351

A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population.  

PubMed

In Iran, the prevalence of beta-thalassemia trait is approximately 4-8% in most areas, and in Mazandaran province 10% of the population are carriers. Twenty four beta-globin gene mutations were identified in 1635 persons with beta-thalassemia trait using reverse dot blot and restriction fragment length polymorphism analysis. The predominant mutations included IVSII-1 (G-A) (61%), codon 30 (G-C) (7.5%), codon 22 (-7bp) (6.2%), codon 8 (-AA) (5.4%) and IVSI-5 (G-C) (3.6%). These mutations were in different haplotypes, with IVSII-1 being the most heterogeneous. Other less frequent mutations included IVS-II-745 (C-G), codon 44 (-C), codon 39 (C-T), codon 5 (-CT), IVS I-110 (G-A), IVSI-130 (G-C), Fr8/9 (+G), IVSI-1 (G-A), and IVSI (-25bp). All rare mutations except IVSI-130 were encountered in a unique haplotype. The diversity of these mutations reflects the historical admixture of genes in the region. The high prevalence of IVSII-1 (G-A) compared to other parts of the country and the world suggests a founder effect. Our data provide a basis for genetic counseling and prenatal diagnosis. PMID:21493114

Akhavan-Niaki, Haleh; Derakhshandeh-Peykar, Poupak; Banihashemi, Ali; Mostafazadeh, Amrollah; Asghari, Beheshteh; Ahmadifard, Mohammad-Reza; Azizi, Mandana; Youssefi, Ali; Elmi, Maryam Mitra

2011-06-15

352

beta-Endorphin in human cerebrospinal fluid.  

PubMed

beta-endorphin is a brain peptide with potent morphine-like activity structurally related to the anterior pituitary hormone beta-lipotrophin (beta-L.P.H.). We have developed a radioimmunoassay for human beta-endorphin in plasma and cerebrospinal fluid (C.S.F.). Since the antiserum also reacts with beta-L.P.H., beta-endorphin was distinguished by using a second antiserum which measures beta-L.P.H. alone. With these two immunoassay systems and gel chromatography, we found beta-endorphin in all 20 C.S.F. samples tested at a concentration always higher than, but with no other relationship to, that in plasma. beta-endorphin was found in C.S.F. of patients who had hypopituitarism and undetectable plasma-beta-endorphin, suggesting that it is synthesized in the brain rather in the pituitary. PMID:78323

Jeffcoate, W J; Rees, L H; McLoughlin, L; Ratter, S J; Hope, J; Lowry, P J; Besser, G M

1978-07-15

353

Genotype Matrix Mapping: Searching for Quantitative Trait Loci Interactions in Genetic Variation in Complex Traits  

PubMed Central

Abstract In order to reveal quantitative trait loci (QTL) interactions and the relationship between various interactions in complex traits, we have developed a new QTL mapping approach, named genotype matrix mapping (GMM), which searches for QTL interactions in genetic variation. The central approach in GMM is the following. (1) Each tested marker is given a virtual matrix, named a genotype matrix (GM), containing intersecting lines and rows equal to the total allele number for that marker in the population analyzed. (2) QTL interactions are then estimated and compared through virtual networks among the GMs. To evaluate the contribution of marker combinations to a quantitative phenotype, the GMM method divides the samples into two non-overlapping subclasses, S0 and S1; the former contains the samples that have a specific genotype pattern to be evaluated, and the latter contains samples that do not. Based on this division, the F-measure is calculated as an index of significance. With the GMM method, we extracted significant marker combinations consisting of one to three interacting markers. The results indicated there were multiple QTL interactions affecting the phenotype (flowering date). GMM will be a valuable approach to identify QTL interactions in genetic variation of a complex trait within a variety of organisms.

Isobe, Sachiko; Nakaya, Akihiro; Tabata, Satoshi

2007-01-01

354

The Effects of Spontaneous Mutation on Quantitative Traits. I. Variances and Covariances of Life History Traits  

PubMed Central

We have accumulated spontaneous mutations in the absence of natural selection in Drosophila melanogaster by backcrossing 200 heterozygous replicates of a single high fitness second chromosome to a balancer stock for 44 generations. At generations 33 and 44 of accumulation, we extracted samples of chromosomes and assayed their homozygous performance for female fecundity early and late in adult life, male and female longevity, male mating ability early and late in adult life, productivity (a measure of fecundity times viability) and body weight. The variance among lines increased significantly for all traits except male mating ability and weight. The rate of increase in variance was similar to that found in previous studies of egg-to-adult viability, when calculated relative to trait means. The mutational correlations among traits were all strongly positive. Many correlations were significantly different from 0, while none was significantly different from 1. These data suggest that the mutation-accumulation hypothesis is not a sufficient explanation for the evolution of senescence in D. melanogaster. Mutation-selection balance does seem adequate to explain a substantial proportion of the additive genetic variance for fecundity and longevity.

Houle, D.; Hughes, K. A.; Hoffmaster, D. K.; Ihara, J.; Assimacopoulos, S.; Canada, D.; Charlesworth, B.

1994-01-01

355

Detection of Quantitative Trait Loci Affecting Fat Deposition Traits in Pigs  

PubMed Central

Quantitative trait loci (QTL) associated with fat deposition traits in pigs are important gene positions in a chromosome that influence meat quality of pork. For QTL study, a three generation resource population was constructed from a cross between Korean native boars and Landrace sows. A total of 240 F2 animals from intercross of F1 were produced. 80 microsatellite markers covering chromosomes 1 to 10 were selected to genotype the resource population. Intervals between adjacent markers were approximately 19 cM. Linkage analysis was performed using CRIMAP software version 2.4 with a FIXED option to obtain the map distances. For QTL analysis, the public web-based software, QTL express (http://www.qtl.cap.ed.ac.uk) was used. Two significant and two suggestive QTL were identified on SSC 6, 7, and 8 as affecting body fat and IMF traits. For QTL affecting IMF, the most significant association was detected between marker sw71 and sw1881 on SSC 6, and a suggestive QTL was identified between sw268 and sw205 on SSC8. These QTL accounted for 26.58% and 12.31% of the phenotypic variance, respectively. A significant QTL affecting IMF was detected at position 105 cM between markers sw71 and sw1881 on SSC 6.

Choi, B. H.; Lee, K. T.; Lee, H. J.; Jang, G. W.; Lee, H. Y.; Cho, B. W.; Han, J. Y.; Kim, T. H.

2012-01-01

356

The effects of spontaneous mutation on quantitative traits. I. Variances and covariances of life history traits.  

PubMed

We have accumulated spontaneous mutations in the absence of natural selection in Drosophila melanogaster by backcrossing 200 heterozygous replicates of a single high fitness second chromosome to a balancer stock for 44 generations. At generations 33 and 44 of accumulation, we extracted samples of chromosomes and assayed their homozygous performance for female fecundity early and late in adult life, male and female longevity, male mating ability early and late in adult life, productivity (a measure of fecundity times viability) and body weight. The variance among lines increased significantly for all traits except male mating ability and weight. The rate of increase in variance was similar to that found in previous studies of egg-to-adult viability, when calculated relative to trait means. The mutational correlations among traits were all strongly positive. Many correlations were significantly different from 0, while none was significantly different from 1. These data suggest that the mutation-accumulation hypothesis is not a sufficient explanation for the evolution of senescence in D. melanogaster. Mutation-selection balance does seem adequate to explain a substantial proportion of the additive genetic variance for fecundity and longevity. PMID:7851773

Houle, D; Hughes, K A; Hoffmaster, D K; Ihara, J; Assimacopoulos, S; Canada, D; Charlesworth, B

1994-11-01

357

Genetic polymorphism of the beta-lactoglobulin gene in native sheep from India.  

PubMed

The genetic polymorphism of the beta-lactoglobulin (beta-LG) gene was determined in 638 animals belonging to 15 native Indian sheep breeds reared in different agroecological regions for various production traits. Variants of beta-LG were found using PCR-RFLP of genomic DNA. Rsa1 restriction enzyme digestion of a 120-bp PCR fragment of exon 2 of beta-LG revealed two genetic variants, A (0.37) and B (0.63), and the three genotypes AA (0.175), AB (0.389), and BB (0.436). The differences in allelic frequency were not significant across the breeds, irrespective of their geographic origin and utility (chi(2) test, P > 0.05). The pattern of occurrence of allelic variants revealed that the B allele was more frequent in the majority of the Indian breeds than in breeds reported from countries of Southwest Asia, Eastern and Central Europe, and the Mediterranean. A higher level of heterozygosity (0.422) was discerned, despite the declining status of several of the Indian breeds. These findings revealed that Indian sheep are predominantly of the beta-LG B type. PMID:20052531

Arora, R; Bhatia, S; Mishra, B P; Sharma, R; Pandey, A K; Prakash, B; Jain, A

2010-04-01

358

Dominantly Inherited beta-Thalassemia.  

PubMed

Dominantly inherited beta-thalassemia (thal) or "inclusion body beta-thalassemias" are heterogeneous at the molecular level and are due to mutations at or near the beta-globin gene locus. Many of these involve mutations of exon 3 of the beta-globin gene. They include frameshifts, premature chain termination (nonsense) mutations, and complex rearrangements that lead to the synthesis of truncated or elongated and highly unstable beta-globin gene products. The resulting beta chain variants are very unstable, and in many cases, the products of the dominantly inherited beta-thal are not detectable. Hematological and clinical observations made in several families with comparable forms of beta-thal and with certain highly unstable hemoglobin (Hb) variants, have indicated a striking overlap; many subjects with detectable unstable Hb variants and with a dominant type of beta-thal without a detectable abnormal Hb, have similar phenotypes. Here, a review of dominantly inherited beta-thal is given, and new examples of hyperunstable Hbs (Hb Stara Zagora and Hb Jambol) are presented. The first example is a hyperunstable variant named Hb Stara Zagora that was found in a 2-year-old Bulgarian boy. The abnormal Hb is associated with severe hemolytic anemia as a consequence of its hyper instability. The anemia was noticed at the age of 2 months and since then he has been on a regular monthly blood transfusion regimen. Hemoglobin analysis revealed no abnormalities, except the presence of inclusion bodies. Sequencing of the beta-globin gene revealed a heterozygosity for a 6 bp deletion (-TGGCTA) at codons 137 (the second and third bp), 138 and 139 (the first bp), thus forming a new codon at position 139 (GAT). This event eliminates three amino acids (Val-Ala-Asn) and introduces a new residue (Asp). It creates a new restriction site for HphI. The parents and his twin brother had no history of hemolysis. The paternity of the child was confirmed by DNA analysis. The second example is a new hyperunstable variant named Hb Jambol, found as a de novo mutation in a 2-year-old Bulgarian girl with severe hemolytic anemia. The mutation was detected through RNA/DNA analysis. It represents a complex genomic rearrangement involving an insertion of 23 nucleotides (nts) after IVS-II-535, a deletion of 310 nts extending from IVS-II-550 to the first nt of codon 108, and an insertion of 28 nts at the deletion junctions (derived from inverted sequence between nts +3707 and +3734 3' to the beta-globin gene termination codon). At the protein level, this mutation leads to a deletion of four amino acid residues (Leu-Leu-Glu-Asn) at positions 105, 106, 107 and 108, and an insertion of nine residues (Val-Pro-Ser-Val-Thr-Leu-Phe-Phe-Asp) at the same location, creating an abnormal elongated beta chain of 151 amino acid residues. The parents had no history of hemolysis. The paternity of the child was confirmed by DNA analysis. PMID:17486503

Efremov, Georgi D

2007-01-01

359

[Population genetic analysis of behaviour traits in Hovawart dogs].  

PubMed

The aim of this study was to determine genetic and environmental influences on behaviour traits in Hovawart dogs. Trait definition was based on a survey which was conducted by the breeding association for Hovawart dogs in Germany in 2002. Questionnaires of 601 dogs born between 1991 and 2001 were used for the analysis of 23 traits that were grouped to the following five trait complexes: behaviour towards strangers and kids, response to external influences, response to dominance gestures of the owner, response to other dogs, and behaviour towards other dogs. Analyses were performed using residual maximum likelihood in multivariate linear animal models. Heritability estimates ranged between h2 = 0.01 and h2 = 0.22 (standard error < or = 0.07). Within the trait complexes, additive genetic correlations were in most cases moderately to highly positive (rg = 0.20 to rg = 1.00); in few cases they were clearly negative (up to rg = -0.81). Residual correlations were in the range of re = -0.12 to re = 0.50. In summary, the results of this study support the heritable nature of behaviour traits in the Hovawart dogs. Accordingly, traits like the response of the dog to unfamiliar situations (h2 = 0.20) and the behaviour towards strangers approaching the home property (h2 = 0.22) may be considered when selecting breeding animals. PMID:19350809

Buse, Christina; Stock, Kathrin Friederike; Hamann, Henning; Distl, Ottmar

2009-01-01

360

Antagonistic epistasis for ecophysiological trait differences between Solanum species.  

PubMed

Epistasis, the nonadditive interaction between loci, is thought to play a role in many fundamental evolutionary processes, including adaptive differentiation and speciation. Focusing on species differences in ecophysiological traits, we examined the strength and direction of pairwise epistatic interactions between target chromosomal regions from one species, when co-introgressed into the genetic background of a foreign species. A full diallel cross was performed using 15 near-isogenic lines (NILs) constructed between two tomato species (Solanum habrochaites and Solanum lycopersicum) to compare the phenotypic effects of each chromosomal region singly and in combination with each other region. We detected main effect quantitative trait loci (QTLs) for two of our three focal traits. Epistatic effects accounted for c. 25% of detected effects on trait means, depending on the trait. Strikingly, all but two interactions were antagonistic, with the combined effect of chromosomal regions acting in the opposite direction from that of one or both individual chromosomal regions. Our study is one of the few to systematically examine pairwise epistatic effects in a nonmicrobial system. Our results suggest that epistatic interactions can contribute substantially to the genetic basis of traits involved in adaptive species differentiation, especially highly complex, multivariate traits. PMID:19659589

Muir, Christopher D; Moyle, Leonie C

2009-08-01

361

Morphological and geographical traits of the british odonata.  

PubMed

Trait data are fundamental for many aspects of ecological research, particularly for modeling species response to environmental change. We synthesised information from the literature (mainly field guides) and direct measurements from museum specimens, providing a comprehensive dataset of 26 attributes, covering the 43 resident species of Odonata in Britain. Traits included in this database range from morphological traits (e.g. body length) to attributes based on the distribution of the species (e.g. climatic restriction). We measured 11 morphometric traits from five adult males and five adult females per species. Using digital callipers, these measurements were taken from dry museum specimens, all of which were wild caught individuals. Repeated measures were also taken to estimate measurement error. The trait data are stored in an online repository (https://github.com/BiologicalRecordsCentre/Odonata_traits), alongside R code designed to give an overview of the morphometric data, and to combine the morphometric data to the single value per trait per species data. PMID:24855438

Powney, Gary D; Brooks, Stephen J; Barwell, Louise J; Bowles, Phil; Fitt, Robert N L; Pavitt, Alyson; Spriggs, Rebecca A; Isaac, Nick J B

2014-01-01

362

Latitudinal trait variation and responses to drought in Arabidopsis lyrata.  

PubMed

Species may respond in three ways to environmental change: adapt, migrate, or go extinct. Studies of latitudinal clines can provide information on whether species have adapted to abiotic stress such as temperature and drought in the past and what the traits underlying adaptation are. We investigated latitudinal trait variation and response to drought in North American populations of Arabidopsis lyrata. Plants from nine populations collected over 13° latitude were grown under well-watered and dry conditions. A total of 1,620 seedlings were raised and 12 phenological, physiological, morphological, and life history traits were measured. Two traits, asymptotic rosette size and the propensity to flower, were significantly associated with latitude: plants from northern locations grew to a larger size and were more likely to flower in the first season. Most traits displayed a plastic response to drought, but plasticity was never related linearly with latitude nor was it enhanced in populations from extreme latitudes with reduced water availability. Populations responded to drought by adopting mixed strategies of resistance, tolerance, and escape. The study shows that latitudinal adaptation in A. lyrata involves the classic life history traits, size at and timing of reproduction. Contrary to recent theoretical predictions, adaptation to margins is based on fixed trait differences and not on phenotypic plasticity, at least with respect to drought. PMID:24705694

Paccard, Antoine; Fruleux, Alexandre; Willi, Yvonne

2014-06-01

363

Affective traits link to reliable neural markers of incentive anticipation.  

PubMed

While theorists have speculated that different affective traits are linked to reliable brain activity during anticipation of gains and losses, few have directly tested this prediction. We examined these associations in a community sample of healthy human adults (n=52) as they played a Monetary Incentive Delay task while undergoing functional magnetic resonance imaging (FMRI). Factor analysis of personality measures revealed that subjects independently varied in trait Positive Arousal and trait Negative Arousal. In a subsample (n=14) retested over 2.5years later, left nucleus accumbens (NAcc) activity during anticipation of large gains (+$5.00) and right anterior insula activity during anticipation of large losses (-$5.00) showed significant test-retest reliability (intraclass correlations>0.50, p's<0.01). In the full sample (n=52), trait Positive Arousal correlated with individual differences in left NAcc activity during anticipation of large gains, while trait Negative Arousal correlated with individual differences in right anterior insula activity during anticipation of large losses. Associations of affective traits with neural activity were not attributable to the influence of other potential confounds (including sex, age, wealth, and motion). Together, these results demonstrate selective links between distinct affective traits and reliably-elicited activity in neural circuits associated with anticipation of gain versus loss. The findings thus reveal neural markers for affective dimensions of healthy personality, and potentially for related psychiatric symptoms. PMID:24001457

Wu, Charlene C; Samanez-Larkin, Gregory R; Katovich, Kiefer; Knutson, Brian

2014-01-01

364

Morphological and Geographical Traits of the British Odonata  

PubMed Central

Abstract Trait data are fundamental for many aspects of ecological research, particularly for modeling species response to environmental change. We synthesised information from the literature (mainly field guides) and direct measurements from museum specimens, providing a comprehensive dataset of 26 attributes, covering the 43 resident species of Odonata in Britain. Traits included in this database range from morphological traits (e.g. body length) to attributes based on the distribution of the species (e.g. climatic restriction). We measured 11 morphometric traits from five adult males and five adult females per species. Using digital callipers, these measurements were taken from dry museum specimens, all of which were wild caught individuals. Repeated measures were also taken to estimate measurement error. The trait data are stored in an online repository (https://github.com/BiologicalRecordsCentre/Odonata_traits), alongside R code designed to give an overview of the morphometric data, and to combine the morphometric data to the single value per trait per species data.

2014-01-01

365

Polytraits: A database on biological traits of marine polychaetes  

PubMed Central

Abstract The study of ecosystem functioning – the role which organisms play in an ecosystem – is becoming increasingly important in marine ecological research. The functional structure of a community can be represented by a set of functional traits assigned to behavioural, reproductive and morphological characteristics. The collection of these traits from the literature is however a laborious and time-consuming process, and gaps of knowledge and restricted availability of literature are a common problem. Trait data are not yet readily being shared by research communities, and even if they are, a lack of trait data repositories and standards for data formats leads to the publication of trait information in forms which cannot be processed by computers. This paper describes Polytraits (http://polytraits.lifewatchgreece.eu), a database on biological traits of marine polychaetes (bristle worms, Polychaeta: Annelida). At present, the database contains almost 20,000 records on morphological, behavioural and reproductive characteristics of more than 1,000 marine polychaete species, all referenced by literature sources. All data can be freely accessed through the project website in different ways and formats, both human-readable and machine-readable, and have been submitted to the Encyclopedia of Life for archival and integration with trait information from other sources.

2014-01-01

366

Functional traits explain variation in plant life history strategies.  

PubMed

Ecologists seek general explanations for the dramatic variation in species abundances in space and time. An increasingly popular solution is to predict species distributions, dynamics, and responses to environmental change based on easily measured anatomical and morphological traits. Trait-based approaches assume that simple functional traits influence fitness and life history evolution, but rigorous tests of this assumption are lacking, because they require quantitative information about the full lifecycles of many species representing different life histories. Here, we link a global traits database with empirical matrix population models for 222 species and report strong relationships between functional traits and plant life histories. Species with large seeds, long-lived leaves, or dense wood have slow life histories, with mean fitness (i.e., population growth rates) more strongly influenced by survival than by growth or fecundity, compared with fast life history species with small seeds, short-lived leaves, or soft wood. In contrast to measures of demographic contributions to fitness based on whole lifecycles, analyses focused on raw demographic rates may underestimate the strength of association between traits and mean fitness. Our results help establish the physiological basis for plant life history evolution and show the potential for trait-based approaches in population dynamics. PMID:24379395

Adler, Peter B; Salguero-Gómez, Roberto; Compagnoni, Aldo; Hsu, Joanna S; Ray-Mukherjee, Jayanti; Mbeau-Ache, Cyril; Franco, Miguel

2014-01-14

367

Sex differences in the etiology of psychopathic traits in youth.  

PubMed

Few studies have examined the etiology of psychopathic traits in youth, and even fewer have tested whether the genetic and environmental influences underlying these traits differ for boys and girls. We tested for sex differences in the etiology of 3 trait dimensions-impulsivity, narcissism, and callous-unemotionality (CU)-previously found to underlie youth psychopathy in our sample. Using biometric modeling we tested whether constraining the genetic and environmental influences for each dimension across sex reduced model fit. We also tested for qualitative sex differences in the influences underlying these dimensions by allowing the genetic and environmental correlations between opposite sex dizygotic twins to be less than their respective values in same-sex dizygotic twins. Although the magnitudes of the genetic and environmental influences underlying the CU and narcissistic trait dimensions did not differ for boys and girls, nonshared environmental influences contributed significantly greater variance to impulsive traits in boys. No qualitative sex differences were found in the influences underlying any of the 3 trait dimensions, suggesting that the same genes and environments contribute to these psychopathic traits in males and females. (PsycINFO Database Record (c) 2014 APA, all rights reserved). PMID:24886014

Ficks, Courtney A; Dong, Lu; Waldman, Irwin D

2014-05-01

368

Exercise-thermoregulatory stress and increased plasma beta-endorphin/beta-lipotropin in humans.  

PubMed

Six adult male volunteers of similar body composition and physical fitness were tested to determine plasma immunoreactive beta-endorphin/beta-lipotropin (beta-EN/beta-LPH) response under three exercise-thermoregulatory stress conditions. The experimental protocol consisted of 120 min of stationary upright cycling at 50% VO2max under neutral (24 degrees C, 50% rh)-euhydration (NE), hot (35 degrees C, 50% RH)-euhydration (HE), and hot-dehydration (HD) environmental conditions. beta-EN/beta-LPH was calculated by radioimmunoassay at -30-min, 0-min, and 15-min intervals thereafter. Change in plasma volume (delta PV) was measured to determine its effect on beta-EN/beta-LPH concentration. Preexercise beta-EN/beta-LPH levels averaged 23.7 +/- 2.6 pg X ml-1 in all conditions. The greatest beta-EN/beta-LPH response occurred at 105 min in HD conditions when levels rose to 43.2 +/- 6.9 pg X ml-1. Exercise in HD and HE conditions resulted in significantly (P less than 0.05) elevated beta-EN/beta-LPH above levels observed in NE. delta PV did not account for more than 10% of beta-EN/beta-LPH changes at any time interval. The beta-EN/beta-LPH response pattern closely paralleled rectal temperature changes in all conditions. These data suggest that conditions of increasing exercise thermoregulatory stress are associated with increasing peripheral beta-endorphin concentration. PMID:6088450

Kelso, T B; Herbert, W G; Gwazdauskas, F C; Goss, F L; Hess, J L

1984-08-01

369

Cardiac glycoside-like structure and function of 5 beta,14 beta-pregnanes  

SciTech Connect

5 beta-Reduction and 14 beta-substitution convert the planar progesterone molecule to the cardiac glycoside configuration--A and D rings of the steroid moiety are bent toward the alpha-face relative to the B and C rings. Potency of the 5 beta,14 beta-derivative in a ({sup 3}H)ouabain binding assay or its ability to inhibit the sodium pump in red blood cells is enhanced by 3 beta-hydroxylation, 20 beta-hydroxylation, and 3 beta-glycosidation. Synthesis of 14,20 beta-dihydroxy-3 beta-(beta-D-glucopyranosyloxy)- 5 beta,14 beta-pregnane from digitoxin is described. The glucoside is 1/20 as potent as ouabain and elicits prominent, sustained, positive inotropy in isolated cardiac muscle.

Templeton, J.F.; Kumar, V.P.; Bose, D.; LaBella, F.S.

1989-08-01

370

Functional evaluation of genetic variation in complex human traits  

PubMed Central

Genome-wide association studies and, more recently, next-generation sequencing studies have accelerated the investigation of complex human traits by providing a wealth of association data linking genetic variants to diseases and other phenotypic traits. These data promise to transform our understanding of the molecular pathways underlying complex human traits, but only if functional evaluation of the novel genetic variants is undertaken. Here, we review recent examples in which such functional evaluation has been attempted, with varying degrees of success, and we highlight new technological advances that should greatly enhance our ability to identify and dissect causal genotype–phenotype relationships.

Peters, Derek T.; Musunuru, Kiran

2012-01-01

371

A semiconductor beta ray spectometer  

NASA Astrophysics Data System (ADS)

The design and operation of a semiconductor beta-ray spectrometer for use in experimental investigations of atomic-nucleus disintegration are described. A general introduction is given, and detailed information is presented in chapters based on previously published papers: Bom (1983), Bom and Coops (1985), and Bom et al. (1986 and 1987). Consideration is given to the hyperpure-Ge particle detector; the data-analysis procedures; the corrections applied to the measured positron continua; and the determination of beta-decay energies for In-(103-108), Cd-(103-105), and Ag-(103-106). The beta energy spectra obtained in the latter experiments are shown to be in good agreement with theoretical predictions, with the exception of those for In-104. Diagrams, graphs, sample spectra, and tables of numerical data are provided.

Bom, Victor Robert

372

[Beta blockers and cardiac decompensation].  

PubMed

It has been demonstrated that beta blockers are able to modify the course of the disease, through the reduction of hemodynamic in stabilization and mortality cases. The success of these drugs in the treatment of chronic heart failure is related to the sympathoadrenergic activation and to renin-angiothensin-aldosteron system. Various molecules are available at the moment. Recent research has been done on third generation beta blockers (carvedilol, nebivolol, bucindolol). These drugs have shown to possess some peculiar characteristics, in particular the ability of reducing the number of side effects which may be seen while using beta blockers of the first generations. Although it is currently difficult to give general informations based only on the pharmacologic profile, the choice of the type of drug to use in the single patient with chronic heart failure should be made considering the adequacy of the pharmacologic characteristics in each specific situation. PMID:10756664

Puddu, G M; Cravero, E; Puddu, P

1999-01-01

373

Genetic variants affecting meat and milk production traits appear to have effects on reproduction traits in cattle.  

PubMed

Polymorphisms located in the genes ABCG2, DGAT1, LEP, PRLR, RORC, CAPN1 and CAST previously have been associated with milk or meat production traits. In this study, these polymorphisms were examined for significant effects on reproductive traits [age at puberty (AGECL), post-partum anoestrus interval (PPAI) and the ability ovulate prior to weaning (PW)] and on a panel of correlated traits such as weight, growth and serum concentration of insulin-like growth factor I. The effects of the polymorphisms were examined in two samples of tropically adapted beef cattle: Brahman (N = 932) and Tropical Composites (N = 1097). A polymorphism in the gene DGAT1 was associated with age at puberty in the combined sample (P = 0.042), and two polymorphisms in CAPN1 were associated with PPAI (P = 0.033) and with the ability ovulate PW (P = 0.017). The favourable allele for reproductive traits was not always the favourable allele associated with production traits. The effects of these polymorphisms on reproductive traits were small compared to their effects on the traits for which they were originally discovered. PMID:22497268

Collis, E; Fortes, M R S; Zhang, Y; Tier, B; Schutt, K; Barendse, W; Hawken, R

2012-08-01

374

Methyl dynamics of the amyloid-{beta} peptides A{beta}40 and A{beta}42  

SciTech Connect

To probe the role of side chain dynamics in A{beta} aggregation, we studied the methyl dynamics of native A{beta}40 and A{beta}42 by measuring cross relaxation rates with interleaved data collection. The methyl groups in the C-terminus are in general more rigid in A{beta}42 than in A{beta}40, consistent with previous results from backbone {sup 15}N dynamics. This lends support to the hypothesis that a rigid C-terminus in A{beta}42 may serve as an internal aggregation seed. Interestingly, two methyl groups of V18 located in the central hydrophobic cluster are more mobile in A{beta}42 than in A{beta}40, most likely due to the paucity of V18 intra-molecular interactions in A{beta}42. V18 may then be more available for inter-molecular interactions to form A{beta}42 aggregates. Thus, the side chain mobility of the central hydrophobic cluster may play an important role in A{beta} aggregation and may contribute to the difference in aggregation propensity between A{beta}40 and A{beta}42.

Yan Yilin; Liu Jiajing; McCallum, Scott A. [Biology Department, Rensselear Polytechnic Institute, Troy, NY 12180 (United States); Yang Daiwen [Department of Biological Sciences, National University of Singapore Science Drive 4, Singapore 117543 (Singapore); Wang Chunyu [Biology Department, Rensselear Polytechnic Institute, Troy, NY 12180 (United States)], E-mail: wangc5@rpi.edu

2007-10-19

375

Beta ray flux measuring device  

DOEpatents

A beta ray flux measuring device in an activated member in-core instrumentation system for pressurized water reactors. The device includes collector rings positioned about an axis in the reactor's pressure boundary. Activated members such as hydroballs are positioned within respective ones of the collector rings. A response characteristic such as the current from or charge on a collector ring indicates the beta ray flux from the corresponding hydroball and is therefore a measure of the relative nuclear power level in the region of the reactor core corresponding to the specific exposed hydroball within the collector ring.

Impink, Jr., Albert J. (Murrysville, PA); Goldstein, Norman P. (Murrysville, PA) [Murrysville, PA

1990-01-01

376

Genome-Wide Association Study of Autistic-Like Traits in a General Population Study of Young Adults  

PubMed Central

Lay abstract: It has been proposed that autistic-like traits in the general population lie on a continuum, with clinical Autism Spectrum Disorder (ASD), representing the extreme end of this distribution. The current study undertook a genome-wide association (GWA) scan of 965 young Western Australian adults to identify novel risk variants associated with autistic-like traits. No associations reached genome-wide significance; however, a review of nominally associated single nucleotide polymorphisms (SNPs) indicated two positional candidate loci that have been previously implicated in autistic-like trait etiology. Scientific abstract: Research has proposed that autistic-like traits in the general population lie on a continuum, with clinical ASD representing the extreme end of this distribution. Inherent in this proposal is that biological mechanisms associated with clinical ASD may also underpin variation in autistic-like traits within the general population. A GWA study using 2,462,046 SNPs was undertaken for ASD in 965 individuals from the Western Australian Pregnancy Cohort (Raine) Study. No SNP associations reached genome-wide significance (p?beta 1 (PRKCB1) gene on chromosome 16p11. The PRKCB1 gene has been previously reported in linkage and association studies for ASD, and its mRNA expression has been shown to be significantly down regulated in ASD cases compared with controls. The rs16946931 SNP (p?=?1.78?×?10?6) is located in a region flanking the Cerebellin 1 (CBLN1) gene on chromosome 16q12.1. The CBLN1 gene is involved with synaptogenesis and is part of a gene family previously implicated in ASD. This GWA study is only the second to examine SNPs associated with autistic-like traits in the general population, and provides evidence to support roles for the PRKCB1 and CBLN1 genes in risk of clinical ASD.

Jones, Rachel Maree; Cadby, Gemma; Melton, Phillip E.; Abraham, Lawrence J.; Whitehouse, Andrew J.; Moses, Eric K.

2013-01-01

377

Hypertension as a complex genetic trait.  

PubMed

Pickering first showed that blood pressure distribution is unimodal and that the diagnosis of essential (primary) hypertension is an arbitrary quantitative trait. His family studies suggested that not 1, but many, perhaps 30 or more, gene variations are responsible for raising blood pressure. Two approaches have been used to address the genetics of essential hypertension. Candidate genes have been selected by virtue of their physiologic function, and case-control association studies have been performed. Numerous candidates have been evaluated, genes of the renin-angiotensin-aldosterone system, genes coding for adrenergic receptors, genes coding for proteins regulating endothelial function, and genes involved in signaling have been studied. True to Pickering's prediction, each gene tested thus far seems to exert, at best, a small effect and contradictory studies are common. Linkage studies have been performed to map the loci of genes regulating blood pressure or inducing hypertension. Studies of dizygotic twins and their parents have permitted an identity-by-decent linkage analysis. Studies of affected sibling pairs involve subjects whose parents are generally already dead. Identity-by-state analysis requires a far greater number of pairs for results. Nevertheless, some large linkage studies have now been performed including subjects from Framingham. Log odds (LOD) scores are far removed from actually cloning genes responsible for hypertension. Single nucleotide polymorphisms (SNPs) permit linkage dysequilibrium mapping, which may enable cloning new genes. Thus far, very few new genes have been cloned for any complex genetic disease. The task is daunting but not impossible. PMID:11891505

Luft, Friedrich C

2002-03-01

378

Designed transcriptional regulators for trait development.  

PubMed

Development is largely controlled by proteins that regulate gene expression at the level of transcription. These regulatory proteins, the genes that control them, and the genes that they control, are organized in a hierarchical structure of complex interactions. Altering the expression of genes encoding regulatory proteins controlling critical nodes in this hierarchy has potential for dramatic phenotypic modification. Constitutive over-expression of genes encoding regulatory proteins in transgenic plants has resulted in agronomically interesting phenotypes along with developmental abnormalities. For trait development, the magnitude and timing of expression of genes encoding key regulatory proteins will need to be precisely controlled and targeted to specific cells and tissues at certain developmental timepoints. Such control is made possible by designed transcriptional regulators which are fusions of engineered DNA binding proteins and activator or repressor domains. Expression of genes encoding such designed transcriptional regulators enable the selective modulation of endogenous gene expression. Genes encoding proteins controlling regulatory networks are prime targets for up- or down-regulation via such designed transcriptional regulators. PMID:23352411

Petolino, Joseph F; Davies, John P

2013-03-01

379

The neural signatures of distinct psychopathic traits.  

PubMed

Recent studies suggest that psychopathy may be associated with dysfunction in the neural circuitry supporting both threat- and reward-related processes. However, these studies have involved small samples and often focused on extreme groups. Thus, it is unclear to what extent current findings may generalize to psychopathic traits in the general population. Furthermore, no studies have systematically and simultaneously assessed associations between distinct psychopathy facets and both threat- and reward-related brain function in the same sample of participants. Here, we examined the relationship between threat-related amygdala reactivity and reward-related ventral striatum (VS) reactivity and variation in four facets of self-reported psychopathy in a sample of 200 young adults. Path models indicated that amygdala reactivity to fearful facial expressions is negatively associated with the interpersonal facet of psychopathy, whereas amygdala reactivity to angry facial expressions is positively associated with the lifestyle facet. Furthermore, these models revealed that differential VS reactivity to positive versus negative feedback is negatively associated with the lifestyle facet. There was suggestive evidence for gender-specific patterns of association between brain function and psychopathy facets. Our findings are the first to document differential associations between both threat- and reward-related neural processes and distinct facets of psychopathy and thus provide a more comprehensive picture of the pattern of neural vulnerabilities that may predispose to maladaptive outcomes associated with psychopathy. PMID:22775289

Carré, Justin M; Hyde, Luke W; Neumann, Craig S; Viding, Essi; Hariri, Ahmad R

2013-01-01

380

Key canopy traits drive forest productivity.  

PubMed

Quantifying the mechanistic links between carbon fluxes and forest canopy attributes will advance understanding of leaf-to-ecosystem scaling and its potential application to assessing terrestrial ecosystem metabolism. Important advances have been made, but prior studies that related carbon fluxes to multiple canopy traits are scarce. Herein, presenting data for 128 cold temperate and boreal forests across a regional gradient of 600 km and 5.4°C (from 2.4°C to 7.8°C) in mean annual temperature, I show that stand-scale productivity is a function of the capacity to harvest light (represented by leaf area index, LAI), and to biochemically fix carbon (represented by canopy nitrogen concentration, %N). In combination, LAI and canopy %N explain greater than 75 per cent of variation in above-ground net primary productivity among forests, expressed per year or per day of growing season. After accounting for growing season length and climate effects, less than 10 per cent of the variance remained unexplained. These results mirror similar relations of leaf-scale and canopy-scale (eddy covariance) maximum photosynthetic rates to LAI and %N. Collectively, these findings indicate that canopy structure and chemistry translate from instantaneous physiology to annual carbon fluxes. Given the increasing capacity to remotely sense canopy LAI, %N and phenology, these results support the idea that physiologically based scaling relations can be useful tools for global modelling. PMID:22279168

Reich, Peter B

2012-06-01

381

Detection of quantitative trait loci influencing dairy traits using a model for longitudinal data.  

PubMed

A longitudinal-linkage analysis approach was developed and applied to an outbred population. Nonlinear mixed-effects models were used to describe the lactation patterns and were extended to include marker information following single-marker and interval mapping models. Quantitative trait loci (QTL) affecting the shape and scale of lactation curves for production and health traits in dairy cattle were mapped in three U.S. Holstein families (Dairy Bull DNA Repository families one, four, and five) using the granddaughter design. Information on 81 informative markers on six Bos taurus autosomes (BTA) was combined with milk yield, fat, and protein percentage and somatic cell score (SCS) test-day records. Six percent of the single-marker tests surpassed the experiment-wise significance threshold. Marker BL41 on BTA3 was associated with decrease in milk yield during mid-lactation in family one. The scale and shape of the protein percentage lactation curve in family four varied with BMC4203 (BTA6) allele that the son received from the grandsire. Some map locations were associated with variation in the lactation pattern of multiple traits. In family four, the marker HUJI177 (BTA3) was associated with changes in the milk yield and protein percentage curves suggesting a QTL with pleiotropic effects or multiple QTL in the region. The interval mapping model uncovered a QTL on BTA7 associated with variation in milk-yield pattern in family four and a QTL on BTA21 affecting SCS in family five. The developed approach can be extended to random regressions, covariance functions, spline, gametic and variance component models. The results from the longitudinal-QTL approach will help to understand the genetic factors acting at different stages of lactation and will assist in positional candidate gene research. Identified positions can be incorporated into marker-assisted selection decisions to alter the persistency and peak production or the fluctuation of SCS during a lactation. PMID:12416823

Rodriguez-Zas, S L; Southey, B R; Heyen, D W; Lewin, H A

2002-10-01

382

Relationship Between Employee Personality Traits and Preferred Leadership Style.  

National Technical Information Service (NTIS)

The purpose of this study is to examine how employee personality traits are related to a preferred leadership style and how the differences between preferred and actual leadership style relate to employee perceptions of leader satisfaction and effectivene...

T. M. Kuhn

2002-01-01

383

Systems Genetics of Complex Traits in Drosophila melanogaster  

PubMed Central

SUMMARY Determining the genetic architecture of complex traits is challenging because phenotypic variation arises from interactions between multiple, environmentally sensitive alleles. We quantified genome-wide transcript abundance and phenotypes for six ecologically relevant traits in D. melanogaster wild-derived inbred lines. We observed 10,096 genetically variable transcripts and high heritabilities for all organismal phenotypes. The transcriptome is highly genetically inter-correlated, forming 241 transcriptional modules. Modules are enriched for transcripts in common pathways, gene ontology categories, tissue-specific expression, and transcription factor binding sites. The high transcriptional connectivity allows us to infer genetic networks and the function of predicted genes based on annotations of other genes in the network. Regressions of organismal phenotypes on transcript abundance implicate several hundred candidate genes that form modules of biologically meaningful correlated transcripts affecting each phenotype. Overlapping transcripts in modules associated with different traits provides insight into the molecular basis of pleiotropy between complex traits.

Ayroles, Julien F.; Carbone, Mary Anna; Stone, Eric A.; Jordan, Katherine W.; Lyman, Richard F.; Magwire, Michael M.; Rollmann, Stephanie M.; Duncan, Laura H.; Lawrence, Faye; Anholt, Robert R. H.; Mackay, Trudy F. C.

2009-01-01

384

Systems genetics of complex traits in Drosophila melanogaster.  

PubMed

Determining the genetic architecture of complex traits is challenging because phenotypic variation arises from interactions between multiple, environmentally sensitive alleles. We quantified genome-wide transcript abundance and phenotypes for six ecologically relevant traits in D. melanogaster wild-derived inbred lines. We observed 10,096 genetically variable transcripts and high heritabilities for all organismal phenotypes. The transcriptome is highly genetically intercorrelated, forming 241 transcriptional modules. Modules are enriched for transcripts in common pathways, gene ontology categories, tissue-specific expression and transcription factor binding sites. The high degree of transcriptional connectivity allows us to infer genetic networks and the function of predicted genes from annotations of other genes in the network. Regressions of organismal phenotypes on transcript abundance implicate several hundred candidate genes that form modules of biologically meaningful correlated transcripts affecting each phenotype. Overlapping transcripts in modules associated with different traits provide insight into the molecular basis of pleiotropy between complex traits. PMID:19234471

Ayroles, Julien F; Carbone, Mary Anna; Stone, Eric A; Jordan, Katherine W; Lyman, Richard F; Magwire, Michael M; Rollmann, Stephanie M; Duncan, Laura H; Lawrence, Faye; Anholt, Robert R H; Mackay, Trudy F C

2009-03-01

385

Species identity influences belowground arthropod assemblages via functional traits  

PubMed Central

Plant species influence belowground communities in a variety of ways, ultimately impacting nutrient cycling. Functional plant traits provide a means whereby species identity can influence belowground community interactions, but little work has examined whether species identity influences belowground community processes when correcting for evolutionary history. Specifically, we hypothesized that closely related species would exhibit (i) more similar leaf and root functional traits than more distantly related species, and (ii) more similar associated soil arthropod communities. We found that after correcting for evolutionary history, tree species identity influenced belowground arthropod communities through plant functional traits. These data suggest that plant species structure may be an important predictor in shaping associated soil arthropod communities and further suggest the importance of better understanding the extended consequences of evolutionary history on ecological processes, as similarity in traits may not always reflect similar ecology.

Gorman, Courtney E.; Read, Quentin D.; Van Nuland, Michael E.; Bryant, Jessica A. M.; Welch, Jessica N.; Altobelli, Joseph T.; Douglas, Morgan J.; Genung, Mark A.; Haag, Elliot N.; Jones, Devin N.; Long, Hannah E.; Wilburn, Adam D.; Schweitzer, Jennifer A.; Bailey, Joseph K.

2013-01-01

386

Wings, Horns, and Butterfly Eyespots: How Do Complex Traits Evolve?  

Microsoft Academic Search

Do novel complex traits evolve when pre-existent complex developmental networks are recruited into new places in the body? Here we look closely at the genomic fingerprints that are produced as a result of gene network co-option.

Antónia Monteiro; Ondrej Podlaha

2009-01-01

387

Selective Genotyping and Phenotyping Strategies in a Complex Trait Context  

PubMed Central

Selective genotyping and phenotyping strategies are used to lower the cost of quantitative trait locus studies. Their efficiency has been studied primarily in simplified contexts—when a single locus contributes to the phenotype, and when the residual error (phenotype conditional on the genotype) is normally distributed. It is unclear how these strategies will perform in the context of complex traits where multiple loci, possibly linked or epistatic, may contribute to the trait. We also do not know what genotyping strategies should be used for nonnormally distributed phenotypes. For time-to-event phenotypes there is the additional question of choosing follow-up time duration. We use an information perspective to examine these experimental design issues in the broader context of complex traits and make recommendations on their use.

Sen, Saunak; Johannes, Frank; Broman, Karl W.

2009-01-01

388

Phenotyping and beyond: modelling the relationships between traits.  

PubMed

Plant phenotyping technology has become more advanced with the capacity to measure many morphological and physiological traits on a given individual. With increasing automation, getting access to various traits on a high number of genotypes over time raises the need to develop systems for data storage and analyses, all congregating into plant phenotyping pipelines. In this review, we highlight several studies that illustrate the latest advances in plant multi-trait phenotyping and discuss future needs to ensure the best use of all these quantitative data. We assert that the next challenge is to disentangle how plant traits are embedded in networks of dependencies (and independencies) by modelling the relationships between them and how these are affected by genetics and environment. PMID:24637194

Granier, Christine; Vile, Denis

2014-04-01

389

Advances in modeling trait-based plant community assembly.  

PubMed

In this review, we examine two new trait-based models of community assembly that predict the relative abundance of species from a regional species pool. The models use fundamentally different mathematical approaches and the predictions can differ considerably. Maxent obtains the most even probability distribution subject to community-weighted mean trait constraints. Traitspace predicts low probabilities for any species whose trait distribution does not pass through the environmental filter. Neither model maximizes functional diversity because of the emphasis on environmental filtering over limiting similarity. Traitspace can test for the effects of limiting similarity by explicitly incorporating intraspecific trait variation. The range of solutions in both models could be used to define the range of natural variability of community composition in restoration projects. PMID:23727200

Laughlin, Daniel C; Laughlin, David E

2013-10-01

390

Association of single nucleotide polymorphism of GHSR and TGFB2 genes with growth and body composition traits in sire and dam lines of a broiler chicken.  

PubMed

Growth hormone secretagogue receptor (GHSR) modulates many physiological processes by binding to its ligand, as well as transforming growth factor-beta 2 (TGFB2) regulates cell growth and development in animals and, therefore, are candidate genes for performance in chickens. In the current study, single nucleotide polymorphisms of GHSR C3286 > T and TGFB2 T(-640) > C were genotyped in sire and dam lines of a broiler chicken to evaluate the association with the growth and body composition traits. Least squares means analysis showed that the GHSR C3286 > T SNP was significantly (P < 0.01) associated with growth (DFI and ADG) and body composition traits (AFW and %AFW). In addition, the TGFB2 T(-640) > C SNP was associated with ADG (P < 0.05) and DFI and body composition traits (DW, LBW, BAKWT, %BMW, %HNDWT and %CW) (P < 0.01). Significant associations of the single nucleotide polymorphisms (SNPs) on the traits reported in the present study might be the distinct usage of codons in avian, or relating to an enhancer element and modulating the expression of the gene in chicken. The data indicated that these SNPs could be valuable genetic elements for selection of chickens for better performance in the population. PMID:24299181

Darzi Niarami, Mojtaba; Masoudi, Ali Akbar; Vaez Torshizi, Rasoul

2014-01-01

391

Genetic association analysis of vitamin D pathway with obesity traits  

PubMed Central

Objective Observational studies have examined the link between vitamin D deficiency and obesity traits. Some studies have reported associations between vitamin D pathway genes such as VDR, GC and CYP27B1 with body mass index (BMI) and waist circumference (WC); however, the findings have been inconsistent. Hence, we investigated the involvement of vitamin D metabolic pathway genes in obesity-related traits in a large population-based study. Methods We undertook a comprehensive analysis between 100 tagging polymorphisms (tagSNPs) in genes encoding for DHCR7, CYP2R1, VDBP, CYP27B1, CYP27A1, CYP24A1, VDR and RXRG and obesity traits in 5,224 participants (aged 45 years) in the 1958 British birth cohort (1958BC). We further extended our analyses to investigate the associations between SNPs and obesity traits using the summary statistics from the GIANT (Genetic Investigation of Anthropometric Traits) consortium (n=123,865). Results In the 1958BC (n=5,224), after Bonferroni correction, none of the tagSNPs were associated with obesity traits except for one tagSNP from CYP24A1 that was associated with waist-hip ratio (WHR) (rs2296239, P=0.001). However, the CYP24A1 SNP was not associated with BMI-adjusted WHR (WHRadj) in the 1958BC (rs2296239, P=1.00) and GIANT results (n=123,865, P=0.18). There was also no evidence for an interaction between the tagSNPs and obesity on BMI, WC, WHR and WHRadj in the 1958BC. In the GIANT consortium, none of the tagSNPs were associated with obesity traits. Conclusions Despite a very large study, our findings suggest that the vitamin D pathway genes are unlikely to have a major role in obesity-related traits in the general population.

Vimaleswaran, Karani Santhanakrishnan; Cavadino, Alana; Berry, Diane J; Whittaker, John C; Power, Chris; Jarvelin, Marjo-Riitta; Hypponen, Elina

2013-01-01

392

It Skips a Generation: Traits, Genes, and Crosses  

NSDL National Science Digital Library

Many of the early discoveries in genetics occured in plants. Plants have a few special characteristics that make them ideal for studying genetics. From one known cross, many genetically similar "siblings" are produced. Building from Gregor Mendel's crosses with peas, students review plant breeding populations and crosses. Emphasis is placed on recessive and dominant traits as well as Mendelian quantitative traits. Questions focus on genetics and evolution.

Rice, Elizabeth; Smith, Margaret E.; Krasny, Marianne

2006-01-01

393

Relationship between female fertility and production traits in Canadian Holsteins.  

PubMed

The objectives of this study were a) to estimate the genetic correlation between milk production and some female fertility traits such as 56-d nonreturn rate in cows (NRRC), calving to first service (CTFS), and first service to conception (FSTC); b) to assess the influence of including milk production as a correlated trait on the genetic evaluation of these traits in Canadian Holsteins; and c) to determine if using heifer nonreturn rate (NRRH) had a similar effect as using milk production on cow NRRC evaluation. The data included fertility and production records of first-parity Holstein cows. Genetic parameters were estimated using uni- and bivariate analyses in which milk production at around 90 DIM (TD90M) was included as a correlated trait to NRRC, CTFS, and FTSC. A bivariate analysis was also carried out in which NRRH was included as a correlated trait to NRRC. The models were compared by genetic trend (NRRC, CTFS, and FSTC) and cross-validation and predictability (NRRC). The heritability estimates for NRRC from the uni- and bivariate analyses were 0.017 and 0.020, respectively. The corresponding figures for CTFS were 0.07 and 0.08 and for FSTC were 0.049 and 0.05. The genetic trends for NRRC of the 2 models (NRRC+TD90M and NRRC+NRRH) gave very similar results. However, when milk production was included in the genetic evaluation of CTFS and FSTC, the genetic trends of the 2 fertility traits were higher compared with the univariate analysis. In NRRC evaluation by cross-validation and predictability, the bivariate analyses were more consistent and gave a better predictability than the univariate analysis. However, there was no major difference between the 2 models. Consequently, it might be worth including milk production or heifer fertility as correlated traits in the genetic evaluation of female fertility traits. PMID:20723717

Sewalem, A; Kistemaker, G J; Miglior, F

2010-09-01

394

The modulation of somatosensory resonance by psychopathic traits and empathy  

PubMed Central

A large number of neuroimaging studies have shown neural overlaps between first-hand experiences of pain and the perception of pain in others. This shared neural representation of vicarious pain is thought to involve both affective and sensorimotor systems. A number of individual factors are thought to modulate the cerebral response to other's pain. The goal of this study was to investigate the impact of psychopathic traits on the relation between sensorimotor resonance to other's pain and self-reported empathy. Our group has previously shown that a steady-state response to non-painful stimulation is modulated by the observation of other people's bodily pain. This change in somatosensory response was interpreted as a form of somatosensory gating (SG). Here, using the same technique, SG was compared between two groups of 15 young adult males: one scoring very high on a self-reported measure of psychopathic traits [60.8 ± 4.98; Levenson's Self-Report Psychopathy Scale (LSRP)] and one scoring very low (42.7 ± 2.94). The results showed a significantly greater reduction of SG to pain observation for the high psychopathic traits group compared to the low psychopathic traits group. SG to pain observation was positively correlated with affective and interpersonal facet of psychopathy in the whole sample. The high psychopathic traits group also reported lower empathic concern (EC) scores than the low psychopathic traits group. Importantly, primary psychopathy, as assessed by the LSRP, mediated the relation between EC and SG to pain observation. Together, these results suggest that increase somatosensory resonance to other's pain is not exclusively explained by trait empathy and may be linked to other personality dimensions, such as psychopathic traits.

Marcoux, Louis-Alexandre; Michon, Pierre-Emmanuel; Voisin, Julien I. A.; Lemelin, Sophie; Vachon-Presseau, Etienne; Jackson, Philip L.

2013-01-01

395

Generality of leaf trait relationships: A test across six biomes  

SciTech Connect

Convergence in interspecific leaf trait relationships across diverse taxonomic groups and biomes would have important evolutionary and ecological implications. Such convergence has been hypothesized to result from trade-offs that limit the combination of plant traits for any species. Here the authors address this issue by testing for biome differences in the slope and intercept of interspecific relationships among leaf traits: longevity, net photosynthetic capacity (A{sub max}), leaf diffusive conductance (G{sub S}), specific leaf area (SLA), and nitrogen (N) status, for more than 100 species in six distinct biomes of the Americas. The six biomes were: alpine tundra-subalpine forest ecotone, cold temperate forest-prairie ecotone, montane cool temperate forest, desert shrubland, subtropical forest, and tropical rain forest. Despite large differences in climate and evolutionary history, in all biomes mass-based leaf N (N{sub mass}), SLA, G{sub S}, and A{sub max} were positively related to one another and decreased with increasing leaf life span. The relationships between pairs of leaf traits exhibited similar slopes among biomes, suggesting a predictable set of scaling relationships among key leaf morphological, chemical, and metabolic traits that are replicated globally among terrestrial ecosystems regardless of biome or vegetation type. However, the intercept (i.e., the overall elevation of regression lines) of relationships between pairs of leaf traits usually differed among biomes. With increasing aridity across sites, species had greater A{sub max} for a given level of G{sub S} and lower SLA for any given leaf life span. Using principal components analysis, most variation among species was explained by an axis related to mass-based leaf traits (A{sub max}, N, and SLA) while a second axis reflected climate, G{sub S}, and other area-based leaf traits.

Reich, P.B. [Univ. of Minnesota, Saint Paul, MN (United States). Dept. of Forest Resources; Ellsworth, D.S. [Brookhaven National Lab., Upton, NY (United States). Dept. of Applied Science; Walters, M.B. [Michigan State Univ., East Lansing, MI (United States). Dept. of Forestry; Vose, J.M. [Forest Service, Otto, NC (United States). Coweeta Hydrological Lab.; Gresham, C. [Clemson Univ., Georgetown, SC (United States). Baruch Forest Inst.; Volin, J.C. [Florida Atlantic Univ., Davie, FL (United States). Div. of Science; Bowman, W.D. [Inst. of Arctic and Alpine Research, Boulder, CO (United States). Mountain Research Station]|[Univ. of Colorado, Boulder, CO (United States). Dept. of Evolutionary, Population, and Organismic Biology

1999-09-01

396

Internet Addiction: Personality Traits Associated with Its Development  

Microsoft Academic Search

This study investigated personality traits of those considered dependent users of the Internet utilizing the 16PF. Results showed that 259 cases of Dependents were classified based upon modified DSM-IV criteria for Pathological Gambling. Dependents ranked high in terms of self- reliance, emotional sensitivity and reactivity, vigilance, low self-disclosure, and non-conformist characteristics. This preliminary analysis discusses how such traits may act

Kimberly S. Young; Robert C. Rodgers

397

Psychopathic Traits of Dutch Adolescents in Residential Care: Identifying Subgroups  

Microsoft Academic Search

The present study examined whether a sample of 214 (52.8% male, M age?=?15.76, SD?=?1.29) institutionalized adolescents could be classified into subgroups based on psychopathic traits. Confirmatory Factor\\u000a Analyses revealed a relationship between the subscales of the Youth Psychopathic traits Inventory (YPI) and the three latent\\u000a constructs of the original model on which it is based. Latent Class Analyses showed that

Karin S. Nijhof; Ad Vermulst; Ron H. J. Scholte; Coleta van Dam; Jan Willem Veerman; Rutger C. M. E. Engels

2011-01-01

398

Personality Traits Predict Treatment Outcome in Alcohol-Dependent Patients  

Microsoft Academic Search

Personality traits are important individual characteristics modifying responses to therapy in various diseases. The aim of this study was to identify personality traits that may predict treatment outcome in alcohol-dependent patients. The present analysis was based on a total of 146 alcohol-dependent patients (109 male, 37 female) after detoxification. The variable of interest was treatment outcome (abstinence\\/relapse) after a 1-year

Sandra E. Müller; Heinz-Gerd Weijers; Jobst Böning; Gerhard A. Wiesbeck

2008-01-01

399

Phenotypic plasticity in the developmental integration of morphological trade-offs and secondary sexual trait compensation  

Microsoft Academic Search

Trait exaggeration through sexual selection will take place alongside other changes in phenotype. Exaggerated morphology might be compensated by parallel changes in traits that support, enhance or facilitate exaggeration: 'secondary sexual trait compensation' (SSTC). Alternatively, exaggeration might be realized at the expense of other traits through morphological trade-offs. For the most part, SSTC has only been examined interspecifically. For these

Joseph L. Tomkins; Janne S. Kotiaho; Natasha R. LeBas

2005-01-01

400

Differences in the trait compositions of non-indigenous and native plants across Germany  

Microsoft Academic Search

This paper explores the differences in the trait compositions of non-indigenous (neophytic) and native plant species for selected traits in Germany. Our set of functional traits addresses species' reproductive biology, life history, morphol- ogy and ecophysiology. To take account of broad- scale heterogeneity across the country we compared the relative frequencies of neophytes and natives with particular trait attributes at

Eva C. KusterWalter; DurkaIngolf Kuhn; Stefan Klotz

2009-01-01

401

The role of trait emotional intelligence in academic performance and deviant behavior at school  

Microsoft Academic Search

This paper examines the role of trait emotional intelligence (‘trait EI') in academic performance and in deviant behavior at school on a sample of 650 pupils in British secondary education (mean age ?16.5 years). Trait EI moderated the relationship between cognitive ability and academic performance. In addition, pupils with high trait EI scores were less likely to have had unauthorized

K. V. Petrides; Norah Frederickson; Adrian Furnham

2004-01-01

402

Exploring the Relationships between Trait Emotional Intelligence and Objective Socio-Emotional Outcomes in Childhood  

ERIC Educational Resources Information Center

Background: Trait emotional intelligence ("trait EI" or "trait emotional self-efficacy") is a constellation of emotion-related self-perceptions and dispositions located at the lower levels of personality hierarchies. This paper examines the validity of this construct, as operationalized by the Trait Emotional Intelligence Questionnaire-Child Form…

Mavroveli, Stella; Petrides, K. V.; Sangareau, Yolanda; Furnham, Adrian

2009-01-01

403

Age-dependent genetic effects on a secondary sexual trait in male Alpine ibex, Capra ibex  

Microsoft Academic Search

Secondary sexual traits, such as horns in ungulates, may be good indicators of genetic quality because they are costly to develop. Genetic effects on such traits may be revealed by examining correlations between multilocus heterozygosity (MLH) and trait value. Correlations between MLH and fitness traits, termed heterozygosity-fitness correlations (HFC), may reflect inbreeding depression or associative overdominance of neutral micro- satellite

ACHAZ VON H ARDENBERG; BRUNO BASSANO; MARCO FESTA-BIANCHET; GORDON LUIKART; PAOLO LANFRANCHI; DAVID COLTMAN

2007-01-01

404

Children's Thinking about Traits: Implications for Judgments of the Self and Others  

Microsoft Academic Search

The relation between the way in which children interpret human behavior and their beliefs about the stability of human traits is investigated. In interviews with 202 7- and 8-year-olds across 2 studies, the belief that traits are stable predicted a greater tendency to make trait judgments, and an increased focus on outcomes and behaviors through which traits can be judged.

Gail D. Heyman; Carol S. Dweck

1998-01-01

405

Trait Emotional Intelligence, Psychological Well-Being and Peer-Rated Social Competence in Adolescence  

ERIC Educational Resources Information Center

The trait emotional intelligence (trait EI or trait emotional self-efficacy) framework provides comprehensive coverage of emotion-related self-perceptions and dispositions. In this study, we investigated the relationship between trait EI and four distinct socioemotional criteria on a sample of Dutch adolescents (N = 282; 136 girls, 146 boys; mean…

Mavroveli, Stella; Petrides, K. V.; Rieffe, Carolien; Bakker, Femke

2007-01-01

406

Variability of linearly evaluated traits of type of simmental bull dams  

Microsoft Academic Search

One of the important factors of successful milk production is group of secondary traits: health, longevity, type and milking traits. These traits have become increasingly significant. In order for productive life of cows used in production of milk to be as long and as successful as possible, special attention must be directed to traits of body type and constitution. In

V. Pantelic; Z. Skalicki; M. M. Petrovic; S. Aleksic; B. Miscevic; D. Ostojic-Andric

2007-01-01

407

Beta approximations for bridge sampling  

Microsoft Academic Search

We consider the problem of simulating X conditional on the value of X +Y , when X and Y are independent positive random variables. We propose approximate methods for sampling (X|X+Y) by approximating the fraction (X\\/z|X+ Y = z) with a beta random variable. We discuss applications to Levy processes and infinitely divisible distributions, and we report numerical tests for

Paul Glasserman; Kyoung-kuk Kim

2008-01-01

408

Wnt/{beta}-Catenin Pathway  

NSDL National Science Digital Library

Wnts are secreted glycoproteins that act as ligands to stimulate receptor-mediated signal transduction pathways in both vertebrates and invertebrates. Activation of Wnt pathways can modulate cell proliferation, survival, cell behavior, and cell fate in both embryos and adults. The Wnt/&beta;-catenin pathway is the best understood Wnt signaling pathway, and its core components are highly conserved during evolution, although tissue-specific or species-specific modifiers of the pathway are likely. In the absence of a Wnt signal, cytoplasmic &beta;-catenin is phosphorylated and degraded in a complex of proteins. Wnt signaling through the Frizzled serpentine receptor and low-density lipoprotein receptor-related protein-5 or -6 (LRP5 or 6) coreceptors activates the cytoplasmic phosphoprotein Dishevelled, which blocks the degradation of &beta;-catenin. As the amount of &beta;-catenin rises, it accumulates in the nucleus, where it interacts with specific transcription factors, leading to regulation of target genes. Inappropriate activation of the pathway in response to mutations is linked to a wide range of cancers, including colorectal cancer and melanoma. The pathway is linked to bone density syndromes and to neurodegenerative diseases, and the pathway may also be involved in the retinal disease familial exudative vitreoretinopathy.

Randall T. Moon (University of Washington School of Medicine;HHMI and Center for Developmental Biology REV)

2005-02-15

409

Beta blockers in heart failure  

Microsoft Academic Search

The rationale for beta blockade in heart failure is now well established. Heart failure mortality, which is predicted by neurohormonal activation, remains high despite modern treatment, including angiotensin-converting enzyme (ACE) inhibition, and additional neurohormonal blockade has further therapeutic potential. Previous clinical trial experience in heart failure, most of which has been in patients with idiopathic cardiomyopathy, indicates consistent improvement in

Norman Sharpe

1996-01-01

410

QTL analysis for some quantitative traits in bread wheat*  

PubMed Central

Quantitative trait loci (QTL) analysis was conducted in bread wheat for 14 important traits utilizing data from four different mapping populations involving different approaches of QTL analysis. Analysis for grain protein content (GPC) suggested that the major part of genetic variation for this trait is due to environmental interactions. In contrast, pre-harvest sprouting tolerance (PHST) was controlled mainly by main effect QTL (M-QTL) with very little genetic variation due to environmental interactions; a major QTL for PHST was detected on chromosome arm 3AL. For grain weight, one QTL each was detected on chromosome arms 1AS, 2BS and 7AS. QTL for 4 growth related traits taken together detected by different methods ranged from 37 to 40; nine QTL that were detected by single-locus as well as two-locus analyses were all M-QTL. Similarly, single-locus and two-locus QTL analyses for seven yield and yield contributing traits in two populations respectively allowed detection of 25 and 50 QTL by composite interval mapping (CIM), 16 and 25 QTL by multiple-trait composite interval mapping (MCIM) and 38 and 37 QTL by two-locus analyses. These studies should prove useful in QTL cloning and wheat improvement through marker aided selection.

Pushpendra, Kumar Gupta; Harindra, Singh Balyan; Pawan, Laxminarayan Kulwal; Neeraj, Kumar; Ajay, Kumar; Reyazul, Rouf Mir; Amita, Mohan; Jitendra, Kumar

2007-01-01

411

Surface Morphology of Amygdala Is Associated with Trait Anxiety  

PubMed Central

Previous neuroimaging studies have suggested a role of amygdala in trait anxiety level, in which amygdala was typically treated as a whole. To date, it remains unknown whether the morphology of specific subregions of amygdala are associated with trait anxiety. Here, we employed a shape analysis approach to locate the association between its morphology and trait anxiety on the surface of amygdala. 24 healthy young participants were included. The boundary of amygdala for each subject was first manually outlined using high-resolution magnetic resonance (MR) image, followed by 3D surface reconstruction and parameterization using spherical harmonic description. Two point-wise metrics, direct displacement between the individual surface and atlas surface and its normal projection, were used to quantify the surface morphology of amygdala. Statistical analysis revealed significant correlations between the two surface metrics and trait anxiety levels, which were located around the lateral and central nucleus of right amygdala. Our results provided localized information for the association between amygdala and trait anxiety, and suggested a central role of the lateral and central nucleus of right amygdala on trait anxiety.

Li, Shuyu; Wang, Yanan; Xu, Pengfei; Pu, Fang; Li, Deyu; Fan, Yubo; Gong, Gaolang; Luo, Yuejia

2012-01-01

412

Do girls with anorexia nervosa have elevated autistic traits?  

PubMed Central

Background Patients with anorexia may have elevated autistic traits. In this study, we tested test whether patients with anorexia nervosa (anorexia) have an elevated score on a dimensional measure of autistic traits, the Autism Spectrum Quotient (AQ), as well as on trait measures relevant to the autism spectrum: the Empathy Quotient (EQ), and the Systemizing Quotient (SQ). Methods Two groups were tested: (1) female adolescents with anorexia: n?=?66, aged 12 to 18 years; and (2) female adolescents without anorexia: n =1,609, aged 12 to 18 years. Both groups were tested using the AQ, EQ, and SQ, via the parent-report adolescent versions for patients aged 12 to 15 years old, and the self-report adult versions for patients aged over 16 years. Results As predicted, the patients with anorexia had a higher AQ and SQ. Their EQ score was reduced, but only for the parent-report version in the younger age group. Using EQ-SQ scores to calculate ‘cognitive types’, patients with anorexia were more likely to show the Type S profile (systemizing (S) better than empathy (E)), compared with typical females. Conclusions Females with anorexia have elevated autistic traits. Clinicians should consider if a focus on autistic traits might be helpful in the assessment and treatment of anorexia. Future research needs to establish if these results reflect traits or states associated with anorexia.

2013-01-01

413

Efficacy of beta 1-adrenergic receptors is lower than that of beta 2-adrenergic receptors.  

PubMed Central

We investigated the relative activity at which fully occupied human beta 1- and beta 2-adrenergic receptors (beta 1AR and beta 2AR) activate the stimulatory G protein (Gs)/adenylyl cyclase (AC) system in isolated membranes. The receptors were cloned and coexpressed in permanent cell lines at beta 1/beta 2 ratios that varied from 1:2 to 3:1 and at total receptor abundance that ranged from 8 to 2200 fmol/mg of membrane protein. Cell lines expressing beta 1AR or beta 2AR alone were also obtained. Competitive inhibition of isoproterenol-stimulated AC activity by the beta 2-selective antagonist ICI 118551 showed in all cases that maximal stimulation elicited by beta 1AR was lower than when it was elicited by equivalent densities of beta 2AR. This was especially noticeable at limiting concentrations of receptor, where the beta 1AR-mediated effect was < 10% of that mediated by beta 2AR. At receptor concentrations > 1000 fmol/mg of protein, stimulation by beta 2AR appeared to reach a maximum, while stimulation by beta 1AR continued to increase, so that at 3200 fmol/mg, beta 1AR-stimulated activity was 80% of beta 2AR-stimulated activity. It is clear that the degree to which a given receptor system is able to activate the Gs/AC system depends not only on its abundance but also on an activity parameter determined by the nature of the receptor, which we refer to as receptor efficacy. For human beta ARs, this efficacy parameter is much lower for the beta 1 subtype than for its beta 2 counterpart. The more effective stimulation of AC through beta 2AR than through beta 1AR is an inherent property of the receptor and not the cell in which it is expressed.

Levy, F O; Zhu, X; Kaumann, A J; Birnbaumer, L

1993-01-01

414

Mapping of quantitative trait loci for the bolting trait in Brassica rapa under vernalizing conditions.  

PubMed

Premature bolting can occur occasionally during spring cultivation of heading Chinese cabbage in East Asia when the plants encounter low temperatures (vernalization), leading to economic loss. Breeding bolting-resistant cultivars is the best choice for solving this problem. We looked for QTLs responsible for varietal differences in the bolting trait in Brassica rapa under environmental conditions that promote vernalization. To achieve this goal, we constructed a linkage map with 107 simple sequence repeats and 54 insertion/deletion markers based on a segregating population of 186 F2 individuals. The resulting map consisted of 10 linkage groups and covered a total length of 947.1 cM, with an average genetic distance of 5.84 cM between adjacent markers. QTL analysis of the bolting trait was performed by two phenotypic evaluations (bolting index and flowering time) based on the scores in an F2 population in the spring of 2010, and scores in F2:3 families in autumn 2010 and spring 2011, respectively. Twenty-six QTLs that controlled bolting were detected, accounting for 2.6 to 31.2% of the phenotypic variance. The detected QTLs with large effects co-localized mainly on linkage groups A02, A06, and A07. These QTLs may provide useful information for marker-assisted selection in a breeding program for late bolting or bolting-resistant cultivars in B. rapa crops. PMID:24938603

Wang, Y G; Zhang, L; Ji, X H; Yan, J F; Liu, Y T; Lv, X X; Feng, H

2014-01-01

415

Quantitative trait locus mapping of fitness-related traits in Drosophila melanogaster.  

PubMed

We examined the genetic architecture of four fitness-related traits (reproductive success, ovariole number, body size and early fecundity) in a panel of 98 Oregon-R x 2b3 recombinant inbred lines (RILs). Highly significant genetic variation was observed in this population for female, but not male, reproductive success. The cross-sex genetic correlation for reproductive success was 0.20, which is not significantly different from zero. There was significant genetic variation segregating in this cross for ovariole number, but not for body size or early fecundity. The RILs were genotyped for cytological insertion sites of roo transposable elements, yielding 76 informative markers with an average spacing of 3.2 cM. Quantitative trait loci (QTL) affecting female reproductive success and ovariole number were mapped using a composite interval mapping procedure. QTL for female reproductive success were located at the tip of the X chromosome between markers at cytological locations 1B and 3E; and on the left arm of chromosome 2 in the 30D-38A cytological region. Ovariole number QTL mapped to cytological intervals 62D-69D and 98A-98E, both on the third chromosome. The regions harbouring QTL for female reproductive success and ovariole number were also identified as QTL for longevity in previous studies with these lines. PMID:11279827

Wayne, M L; Hackett, J B; Dilda, C L; Nuzhdin, S V; Pasyukova, E G; Mackay, T F

2001-02-01

416

Neoclassical transport in high [beta] tokamaks  

SciTech Connect

Neoclassical, transport in high [beta] large aspect ratio tokamaks is calculated. The variational method introduced by Rosenbluth, et al., is used to calculate the full Onsager matrix in the banana regime. These results are part of a continuing study of the high [beta] large aspect ratio equilibria introduced in Cowley, et al. All the neoclassical coefficients are reduced from their nominal low [beta] values by a factor ([var epsilon]/q[sup 2][beta])[sup [1/2

Cowley, S.C.

1992-12-01

417

TGF-{beta} Flips the Myc Switch  

NSDL National Science Digital Library

Although transforming growth factor-&beta; (TGF-&beta;) can affect cell cycle arrest, not much molecular detail is known about how TGF-&beta;-dependent arrest is mediated. Two recent papers shed some light on how this is accomplished. Orian and Eisenman discuss how Myc interacts with Miz-1 to block the expression of a cell cycle inhibitory protein, p15INK4b, and how TGF-&beta; is able to unblock Myc-dependent repression of Miz-1.

Amir Orian (University of Washington;Division of Basic Sciences at the Fred Hutchinson Cancer Research Center REV); Robert N. Eisenman (University of Washington;Division of Basic Sciences at the Fred Hutchinson Cancer Research Center REV)

2001-06-26

418

Are we misunderstanding beta-blockers  

Microsoft Academic Search

In myocardial ischaemia and heart failure, beta-blockers with intrinsic sympathomimetic activity (ISA) e.g. pindolol, xamoterol, bucindolol, nebivolol, have performed poorly in reducing morbidity and mortality. In both indications beta-1 blockade is the vital active ingredient. Beta-1 blockade (bisoprolol) is now an alternative first-line choice to Ace-inhibition in the treatment of heart failure. The therapeutic role of beta-blockers in hypertension is

J. M. Cruickshank

2007-01-01

419

Using genetic markers to orient the edges in quantitative trait networks: The NEO software  

Microsoft Academic Search

BACKGROUND: Systems genetic studies have been used to identify genetic loci that affect transcript abundances and clinical traits such as body weight. The pairwise correlations between gene expression traits and\\/or clinical traits can be used to define undirected trait networks. Several authors have argued that genetic markers (e.g expression quantitative trait loci, eQTLs) can serve as causal anchors for orienting

Jason E Aten; Tova F Fuller; Aldons J Lusis; Steve Horvath

2008-01-01