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1

Effect of alpha thalassaemia trait and enhanced gamma chain production on disease severity in beta thalassaemia major and intermedia.  

PubMed Central

One hundred and twenty patients with homozygous beta thalassaemia were selected to determine the clinical effects of certain genetic factors which may modify disease severity. Genetic analysis defined specific beta thalassaemia mutations, the alpha thalassaemia genotype, and the presence of an XmnI restriction enzyme site, associated with increased fetal haemoglobin (HbF) production under certain conditions. Genotypic data with globin chain synthesis were related to the age when regular transfusions began and subsequent pubertal development. This study showed that the major determinants of disease severity in beta thalassaemia were the beta thalassaemia mutations, with co-inheritance of alpha thalassaemia trait and coinheritance of a high HbF determinant acting as ameliorating factors. The presence of an alpha thalassaemia deletion significantly reduced initial disease severity, although the effect on pubertal development was less clear. It is concluded that detailed genetic analysis should be performed in all newly diagnosed patients with thalassaemia. This, in conjunction with clinical assessment, will help to predict disease severity and prognosis.

Gringras, P; Wonke, B; Old, J; Fitches, A; Valler, D; Kuan, A M; Hoffbrand, V

1994-01-01

2

The value of screening for beta thalassaemia trait amongst Asian Muslim school children  

Microsoft Academic Search

The attitude of 31 Muslim parents towards their children giving birth to a child with beta thalassaemia was investigated. Nineteen parents intended to arrange the marriages for their children, and all but one would avoid arranging a marriage to another with the trait if their child had the trait. Only five parents would not support ante-natal diagnosis at any stage

P. J. Elton; K. Baloch; D. I. K. Evans

1989-01-01

3

Effectiveness of one tube osmotic fragility screening in detecting beta-thalassaemia trait  

Microsoft Academic Search

The effectiveness of the one tube method of osmotic fragility with three buffered solutions (0.32% saline, 0.36% saline, and tyrode) as a screening test for beta-thalassaemia trait was evaluated in several groups of subjects from Greece, Yugoslavia, and Thailand. The results clearly demonstrated that 0.36% saline is the most sensitive and effective solution since it could detect 96 to 100%

C Kattamis; G Efremov; S Pootrakul

1981-01-01

4

Red blood cell microcytosis and hypochromia in the differential diagnosis of iron deficiency and beta-thalassaemia trait.  

PubMed

Iron deficiency anaemia (IDA) and beta-thalassaemia are the most common causes of microcytic anaemia. Some indices have been defined to quickly discriminate this diseases based on red cell parameters obtained from automated blood cell analyzers, and can be effective for use as a preliminary screening tool to allow the reflex HbA(2) analysis, when a proper cut-off is chosen. Advia 2120 (Siemens Medical Solutions Diagnostics) directly measures volume and haemoglobin concentration of individual red cells, and quantifies the percentage of microcytic, normocytic, macrocytic, hypochromic, normochromic and hyperchromic red cells. Because of the inverse behaviour of the % microcytic and % hypochromic red cells in beta-thalassaemia trait and in IDA the ratio between these two values was computed and its discriminant efficiency assessed. The aim of the study was to assess the predictive value of the new index % microcytic/% hypochromic ratio in the differential diagnosis of beta-thalassaemia compared with Mentzer index, currently used in our Laboratory. Sensitivity, specificity and total efficiency of both indices were calculated for a set of 110 IDA patients and 150 beta-thalassaemia carriers. Discriminant efficiency was similar for both indices. PMID:18510574

Urrechaga, E

2008-05-27

5

Zinc protoporphyrin assays in patients with alpha and beta thalassaemia trait  

Microsoft Academic Search

AIMS--To determine the value of the red cell distribution width (RDW) and erythrocyte zinc protoporphyrin (ZPP) concentration in discriminating between iron deficiency, and beta and alpha thalassaemia in a mixed urban Asian population. METHODS--The RDW and ZPP concentrations were measured in 1412 subjects attending for outpatient phlebotomy, with classification into diagnostic groups on the basis of haemoglobin, mean cell haemoglobin,

M L Tillyer; C R Tillyer

1994-01-01

6

Role of discrimination indices in differentiation of beta thalassaemia trait and iron deficiency anaemia.  

PubMed

Iron deficiency anaemia (IDA) and beta thalassaemia trait (BTT) are the most common causes of microcytic hypochromic anaemias. Several discrimination indices have been introduced to discriminate quickly these similar entities via parameters obtained from automated cell counter. The purpose of the study was to evaluate the value of five discrimination indices in differentiation of BTT and IDA. This study consists of 57 cases of BTT and 72 cases of IDA. Five discrimination indices evaluated in this study for differentiation of BTT and IDA were red blood cell (RBC) count, red blood cell distribution width index (RDWI), Green & King Index (G & K), Mentzer index (MI) and England & Fraser (E & F) index. Sensitivity, specificity, positive and negative predictive values and Youden's index (YI) had been calculated. RBC count and RDWI appears to be reliable and useful index for the differentiation of BTT and IDA, as both of the indices had more than 80% sensitivity, specificity in differentiation of IDA and BTT. Patients with microcytic hypochromic anaemia could be easily screened out for BTT and IDA through these discrimination indices in the absence of other complicated diseases. PMID:21240173

Nesa, A; Munir, S F; Sultana, T; Rahman, M Q; Ahmed, A N

2011-01-01

7

Red cell indices and functions differentiating patients with the beta-thalassaemia trait from those with iron deficiency anaemia.  

PubMed

This study examined the diagnostic accuracy of nine indices to discriminate between patients with mild-to-moderate (haemoglobin 8.5 - 11 g/dl) or moderate-to-severe (haemoglobin < 8.5 g/dl) iron deficiency anaemia (IDA) from those with beta-thalassaemia (beta-TT) (n = 100 per group). Indices examined were red blood cell (RBC) count, RBC distribution width (RDW), Mentzer index (MI), Shine and Lal index (S&L), England and Fraser index (E&F), Srivastava index (S), Green and King index (G&K), RDW index (RDWI), and Ricerca index (R). Index sensitivity, specificity, and positive and negative prognostic values were examined. Youden's indices were calculated and showed: S&L > G&K > E&F > RBC = RDWI > MI > S > R > RDW to differentiate between beta-TT and mild-to-moderate IDA; and S&L > G&K > E&F = RDWI > RBC > R > MI > S > RDW to differentiate between beta-TT or moderate-to-severe IDA. For both groups, S&L and G&K offered the best discrimination and RDW the worst. S&L showed the highest Youden index for beta-TT and IDA discrimination, but sensitivity and specificity were not 100%. In both mild and severe IDA, the S&L index may be used to differentiate cases of beta-TT from IDA cases, but large clinical trials are needed to explore this further. PMID:19215670

Okan, V; Cigiloglu, A; Cifci, S; Yilmaz, M; Pehlivan, M

8

Thalassaemia of intermediate severity resulting from the interaction between alpha- and beta-thalassaemia.  

PubMed Central

A Sicilian family is described in which the alpha-thalassaemia gene is interacting in several members with beta-thalassaemia resulting in a balanced alpha/beta chain production ratio. In one patient, affected by homozygous beta-thalassaemia, the presence of alpha-thalassaemia resulted in a less severe clinical expression of the disease, less marked imbalance in the alpha/non-alpha ratio, and a lower level of HbF. Further studies of haemoglobin synthesis are needed to clarify the complex genetic picture that results from the interaction of different forms of thalassaemia.

Musumeci, S; Schiliro, G; Pizzarelli, G; Fischer, A; Russo, G

1978-01-01

9

Osmotic fragility test in heterozygotes for alpha and beta thalassaemia  

Microsoft Academic Search

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

L Maccioni; A Cao

1985-01-01

10

Clinical and haematological evaluation of beta thalassaemia intermedia characterised by unusually low Hb F and increased Hb A2: beta thalassaemia intermedia II.  

PubMed Central

A total of 15 patients from different families with thalassaemia intermedia was studied. Haematological studies showed that the fetal haemoglobin was only slightly raised, being between 2 and 11.5% of the total haemoglobin. Haemoglobin A2 was high in all cases. The family study indicated that homozygosity or compound heterozygosity for beta thalassaemia was present in five patients, while dominant inheritance was observed in three. In seven patients family studies were not sufficient to predict the genotype. Haematological findings in the parents of the homozygous patients were as severe as those seen in common Hb A2 beta thalassaemia traits. The decrease in MCH and MCV was more severe and the Hb A2 higher in homozygous patients than in cases of common beta thalassaemia major (p less than 0.01, p less than 0.01, and p less than 0.001 respectively). The imbalance in in vitro globin synthesis was more severe in classical beta thalassaemia major than in homozygous patients in this study (p less than 0.01). However, the imbalance in alpha/non-alpha synthetic ratios showed variation among the homozygous and heterozygous patients in this study (2.1 to 4.0). Haematological severity and Hb F value showed some slight variation among affected persons of the same family in the case of patients with severe beta thalassaemia heterozygosity. The G gamma/A gamma ratio of haemoglobin F was found to be close to that of the adult level. Haematological studies suggested that clinical and haematological findings were more severe in patients with homozygous beta thalassaemia than in patients with heterozygosity for beta thalassaemia. The prevalence of thalassaemia intermedia with low Hb F and increased Hb A2 was found to account for 3% of the Turkish beta thalassaemic patients diagnosed before the age of 8 years. Images

Gurgey, A; Kayin, S; Kansu, E; Altay, C

1985-01-01

11

?-thalassaemia  

PubMed Central

Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia. It is probably the most common monogenic gene disorder in the world and is especially frequent in Mediterranean countries, South-East Asia, Africa, the Middle East and in the Indian subcontinent. During the last few decades the incidence of alpha thalassaemia in North-European countries and Northern America has increased because of demographic changes. Compound heterozygotes and some homozygotes have a moderate to severe form of alpha thalassaemia called HbH disease. Hb Bart's hydrops foetalis is a lethal form in which no alpha-globin is synthesized. Alpha thalassaemia most frequently results from deletion of one or both alpha genes from the chromosome and can be classified according to its genotype/phenotype correlation. The normal complement of four functional alpha-globin genes may be decreased by 1, 2, 3 or all 4 copies of the genes, explaining the clinical variation and increasing severity of the disease. All affected individuals have a variable degree of anaemia (low Hb), reduced mean corpuscular haemoglobin (MCH/pg), reduced mean corpuscular volume (MCV/fl) and a normal/slightly reduced level of HbA2. Molecular analysis is usually required to confirm the haematological observations (especially in silent alpha-thalassaemia and alpha-thalassaemia trait). The predominant features in HbH disease are anaemia with variable amounts of HbH (0.8-40%). The type of mutation influences the clinical severity of HbH disease. The distinguishing features of the haemoglobin Bart's hydrops foetalis syndrome are the presence of Hb Bart's and the total absence of HbF. The mode of transmission of alpha thalassaemia is autosomal recessive. Genetic counselling is offered to couples at risk for HbH disease or haemoglobin Bart's Hydrops Foetalis Syndrome. Carriers of alpha+- or alpha0-thalassaemia alleles generally do not need treatment. HbH patients may require intermittent transfusion therapy especially during intercurrent illness. Most pregnancies in which the foetus is known to have the haemoglobin Bart's hydrops foetalis syndrome are terminated due to the increased risk of both maternal and foetal morbidity.

2010-01-01

12

Neurological complications of beta-thalassaemia major.  

PubMed Central

Neurological complications in beta-thalassaemia major are uncommon, with cerebral ischaemic episodes related to severe anaemia or convulsions as the most usual manifestations. Two such cases of children of 6 and 8 years are reported. Cerebral venous infarction is advanced as the probable cause of the symptoms. Caution should be exercised in giving rapid, large blood transfusions to thalassaemic patients adapted to long-standing severe anaemia.

Sinniah, D; Vignaendra, V; Ahmad, K

1977-01-01

13

Thalassaemia intermedia in a family with beta 0-thalassaemia and Hb Hasharon.  

PubMed

A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia intermedia. Her haemolysate contained 8.6% Hb F Hasharon (alpha 2 Hasharon gamma 2) and 1.1% Hb A2, the remaining haemoglobin being Hb F. Hb A was not detected. Globin chain synthesis in reticulocytes showed non-alpha/total alpha ratios of 0.29, 0.39, and 0.73 respectively for the patient, the mother, and the father, who is heterozygous for both the beta 0-thalassemia and Hb Hasharon genes. The possible contribution of Hb Hasharon heterozygosity to the less severe expression of homozygous beta 0-thalassaemia is discussed. PMID:7154040

Zago, M A; Costa, F F; Bottura, C

1982-12-01

14

Thalassaemia intermedia in a family with beta 0-thalassaemia and Hb Hasharon.  

PubMed Central

A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia intermedia. Her haemolysate contained 8.6% Hb F Hasharon (alpha 2 Hasharon gamma 2) and 1.1% Hb A2, the remaining haemoglobin being Hb F. Hb A was not detected. Globin chain synthesis in reticulocytes showed non-alpha/total alpha ratios of 0.29, 0.39, and 0.73 respectively for the patient, the mother, and the father, who is heterozygous for both the beta 0-thalassemia and Hb Hasharon genes. The possible contribution of Hb Hasharon heterozygosity to the less severe expression of homozygous beta 0-thalassaemia is discussed. Images

Zago, M A; Costa, F F; Bottura, C

1982-01-01

15

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

16

High frequency of beta thalassaemia in a small island population in Melanesia.  

PubMed Central

A study of the causes of anaemia in the south west Pacific archipelago of Vanuatu has identified one island, Maewo, where the carrier rate for beta thalassaemia exceeds 20%, one of the highest recorded incidences in the world. Homozygous beta thalassaemia is a major cause of infant mortality and a serious drain on health resources on this island. Interactions of beta thalassaemia with various forms of alpha + thalassaemia were common in this population. Coexistent alpha + thalassaemia leads to better haemoglobinised and larger red cells than are seen in simple beta thalassaemia heterozygotes and screening for the latter can only be reliably carried out by Hb A2 estimation.

Bowden, D K; Hill, A V; Weatherall, D J; Clegg, J B

1987-01-01

17

Mapping the prevalence of sickle cell and beta thalassaemia in England: estimating and validating ethnic-specific rates.  

PubMed

A range of estimates for sickle cell and beta thalassaemia have been derived for the different ethnic groups living in the U.K., reflecting uncertainty over the true population value in certain countries and the heterogeneity within and between countries of origin comprising the same ethnic group. These were validated against six community screening programmes, with the estimated range correctly predicting the number of affected births observed by the programmes. In England approximately 3000 affected babies (0.47%) carry sickle cell trait and 2800 (0.44%) carry beta thalassaemia trait annually: with approximately 178 (0.28 per 1000 conceptions) affected by sickle cell disease (SCD) and 43 (0.07 per 1000) by beta thalassaemia major/intermedia. Allowing for termination, about 140-175 (0.22-0.28 per 1000) affected infants are born annually with SCD and from 10 to 25 (0.02-0.04 per 1000) with beta thalassaemia major/intermedia. These are the first evidence-based rates for sickle cell and beta thalassaemia for use in the U.K., and should underpin the future planning of services. The long-term solution to monitoring changes in the rates of trait and disease in the population is to introduce a standardized instrument for collecting ethnicity for all community screening programmes. PMID:10192451

Hickman, M; Modell, B; Greengross, P; Chapman, C; Layton, M; Falconer, S; Davies, S C

1999-03-01

18

Arterial elastorrhexis in beta-thalassaemia intermedia, sickle cell thalassaemia and hereditary spherocytosis.  

PubMed

Arterial and stromal elastorrhexis, an elastic tissue disorder, was recently described in beta-thalassaemia major. Histopathological material from 10 patients with thalassaemia intermedia, 14 with sickle cell thalassaemia and 18 with hereditary spherocytosis was examined in order to investigate the specificity of the arteriopathy. Histological re-examination was made in a total of 42 spleens with parasplenic lymph nodes in 14 cases, 26 surgical liver biopsies and 16 gallbladders with associated regional lymph nodes. Arteriopathy, qualitatively similar to that seen in beta-thalassaemia major, was found in up to 90% of extrasplenic muscular arteries. Elastorrhexis lesions were also found in intrasplenic arteries and in stromal elastic tissue of spleens and parasplenic lymph nodes, in the absence of tissue iron overload. The arteriopathy appears in the first decade of life even in spleens of normal weight, and seems unrelated to the severity of permanent anaemia. It is suggested that patients suffering from hereditary chronic haemolytic diseases are subject to an elastic tissue disorder which is similar to hereditary pseudoxanthoma elasticum, the earliest and most frequent manifestation of which is arterial elastorrhexis of muscular extrasplenic arteries. PMID:11737245

Tsomi, K; Karagiorga-Lagana, M; Karabatsos, F; Fragodimitri, C; van Vliet-Konstantinidou, C; Premetis, E; Stamoulakatou, A

2001-09-01

19

Beta-thalassaemia: increased chromosomal anomalies in lymphocyte cultures.  

PubMed Central

Lymphocyte cultures from homozygotes for the beta-thalassaemia gene were found to contain chromosomal gaps, breaks, and rearrangements more often than those from controls. Culture time seemed to have a determinant effect on the results. The possible influence of folic acid deficiency is discussed. Images

Cote, G B; Papadakou-Lagoyanni, S

1979-01-01

20

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

21

?-thalassaemia  

Microsoft Academic Search

Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia. It is probably the most common monogenic gene disorder in the world and is especially frequent in Mediterranean countries, South-East Asia, Africa, the Middle East and in the Indian subcontinent. During the last

Cornelis L Harteveld; Douglas R Higgs

2010-01-01

22

Clinical and haematological evaluation of beta thalassaemia intermedia with increased Hb F and Hb A2 in heterozygotes: beta thalassaemia intermedia I.  

PubMed Central

Family studies were performed in 10 patients from seven different families with homozygous beta zero thalassaemia intermedia and in three patients with homozygous beta+ or compound heterozygous beta+ and beta zero thalassaemia intermedia. In nine of the 10 families at least one of the parents was found to have raised Hb A2 and Hb F. In the heterozygotes with increased Hb A2 and Hb F, the means of Hb F and MCV were significantly higher than those observed in regular Hb A2 thalassaemia heterozygotes. However, the severity of imbalance in in vitro haemoglobin synthesis was similar in these two groups. The imbalance in the alpha/non-alpha synthetic ratio was heterogeneous in the patients, being 2.1 and 4.0. Segregation of the raised Hb F from the Hb A2 beta thalassaemia determinant was found to be possible in only one of the 36 heterozygotes. This may exclude the possibility of the presence of an additional determinant responsible for the activation of the gamma chain. The G gamma/A gamma ratio of Hb F was that of the fetal type (G gamma was between 50 and 71% of the total gamma chain). The A gamma T variant of gamma chain was not detected in cis of the beta zero thalassaemia determinant characterised by increased Hb F and Hb A2. A retrospective study of 180 patients with beta thalassaemia and their parents indicated that the combined rise in Hb A2 and Hb F was more common in the heterozygous parents (11 out of 30 parents) of the patients with beta zero thalassaemia than it was in the parents of patients with beta+ thalassaemia (three out of 140 parents). The presence of increased Hb A2 and Hb F in the heterozygote may in some cases determine the relative mildness of the disease.

Altay, C; Gurgey, A

1985-01-01

23

Pharmacokinetics of sex steroids in patients with beta thalassaemia major.  

PubMed Central

AIMS--To assess the pharmacokinetics of oral, intramuscular, or transdermal hormone replacement in patients with beta thalassaemia major. METHODS--Oral (testosterone undecanoate 40 mg) and intramuscular (testosterone propionate 15 mg, phenylpropionate 30 mg, isocaproate 30 mg and decanoate 50 mg) testosterone and transdermal (17 beta oestradiol 25 micrograms and 50 micrograms) oestradiol were evaluated in 21 male (16-29 years) and 11 female (19-26 years) patients with beta thalassaemia major and various forms of hypogonadism. RESULTS--In male patients given oral testosterone, peak testosterone concentrations were observed either two to four hours or seven hours after administration; intramuscular testosterone produced peak values seven days after injection. Transdermal 17 beta oestradiol given to female patients produced a biphasic pattern with an initial peak concentration occurring at 36 hours and a secondary rise at 84 hours. CONCLUSIONS--The results indicate that oral androgens should be given twice daily in cases of hypogonadism, and where growth is incomplete, lower than recommended doses. If intramuscular testosterone is used, smaller doses of 10-25 mg should be given every one to two weeks. Transdermal administration of 25-50 micrograms 17 beta oestradiol generally produces a plasma E2 value in the early to mid-follicular phase range (100-300 pmol/l). This is appropriate in adults but excessive for prepubertal girls. Diffuse iron infiltration of tissues does not seem to interfere with the absorption of androgens and oestrogens from the gut, muscle, or skin.

Katz, M; De Sanctis, V; Vullo, C; Wonke, B; McGarrigle, H H; Bagni, B

1993-01-01

24

DNA haplotype heterogeneity of beta-thalassaemia in Greece: feasibility of prenatal diagnosis.  

PubMed

We have carried out DNA haplotype analysis of 69 beta-thalassaemia patients in Greece and 42 of the parents using seven standard polymorphic sites. Our data show a high degree of heterogeneity of the chromosomal background in which beta-thalassaemia occurs in Greece, suggesting a high degree of heterogeneity in the beta-thalassaemia mutations involved. Haplotype I is found here to represent 45% of total beta-thalassaemia mutations detected, a proportion well below the 67% reported in earlier studies with Greek-American patients. Nine different haplotypes are detected and the ones carrying beta(+) mutations are the majority, including those which are linked to beta(+) mutations associated with a thalassaemia intermedia phenotype, and which constitute 11% of all haplotypes. One of these haplotypes (---- ) has never before been reported to occur in non-Africans, whether in beta thal or beta A chromosomes, and it is found here to be of African origin rather than the product of recombination. In 21 families haplotype analysis showed that prenatal diagnosis for a second child was feasible in 81% of the cases. Use of the AvaII-psi beta polymorphic site as well as the seven standard ones brought this proportion up to 90%. PMID:3620356

Athanassiadou, A; Zarkadis, I; Papahadjopoulou, A; Maniatis, G M

1987-07-01

25

Serum Adipocytokine and Vascular Inflammation Marker Levels in Beta-Thalassaemia Major Patients  

Microsoft Academic Search

Background\\/Aim: The adipocytokines leptin and adiponectin represent a critical link between metabolism, immunity and chronic inflammation. A chronic vascular inflammatory state plays an important role in the pathophysiology of thalassaemia. We aimed to analyze the levels of these adipocytokines and determine any possible correlations with disease severity or vascular inflammation markers in beta-thalassaemia. Methods: Serum leptin, adiponectin, high-sensitivity C-reactive protein,

Nikolaos Chaliasos; Anna Challa; Eleftheria Hatzimichael; Freideriki Koutsouka; Dimitrios K. Bourantas; Antonios P. Vlahos; Antigone Siamopoulou; Konstantinos L. Bourantas; Alexandros Makis

2010-01-01

26

Thalassaemia in Cyprus  

Microsoft Academic Search

Frequencies of the thalassaemias in Cyprus were examined by a survey of hospital inpatients and haematological investigations of adult and newborn population samples. The data indicate that 15% of the Greek and Turkish Cypriots are carriers of beta-thalassaemia genes, while 10% of the population carry alpha-thalassaemia genes. These are the highest frequencies of thalassaemia genes found today in any Caucasian

Th. Ashiotis; Z. Zachariadis; K. Sofroniadou; D. Loukopoulos; G. Stamatoyannopoulos

1973-01-01

27

Bone marrow and peripheral blood globin chain synthesis in sickle cell beta zero thalassaemia.  

PubMed Central

A similar imbalance of globin chain synthesis, with low non-alpha/alpha ratios, was shown in peripheral blood and in bone marrow of compound heterozygotes for both the Hb S and beta zero thalassaemia genes (S/beta zero thalassaemia). Previous purification of whole cell globin obtained from the bone marrow did not change the non-alpha/alpha ratio. The mean non-alpha/alpha ratios were 0.57 +/- 0.13 (means +/- SD) for the peripheral blood of 12 patients, 0.52 +/- 0.10 for five patients using bone marrow globin purified on Sephadex G100, and 0.55 +/- 0.16 for the unfiltered bone marrow globin of five patients. The data show that patients with S/beta zero thalassaemia have a similar beta chain deficiency in reticulocytes and in bone marrow cells, provided whole cell globin is used which avoids the removal of the free alpha chains. The non-alpha/alpha ratios in the peripheral blood of an S/beta zero thalassaemia patient and a beta thalassaemia heterozygote from the same family were compared in seven families and no significant difference was found.

Costa, F F; Zago, M A

1986-01-01

28

Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans.  

PubMed

It has been suggested that there is a close linkage between specific restriction fragment polymorphism patterns, defined as haplotypes, in the beta-globin gene cluster and specific mutations in Mediterranean people with thalassaemia. This association formed the basis of a strategy for the efficient characterization of beta-thalassaemia mutations from the DNA sequence of one or two beta-thalassaemia genes derived from each haplotype in each ethnic group. Subsequently, Robertson and Hill argued that this strategy greatly underestimates the number of mutations on haplotypes which are frequent among normal chromosomes. We have therefore now analysed the proposed association and strategy quantitatively by the use of oligonucleotide hybridization and direct restriction analysis. Our results suggest that: (1) the association of specific haplotypes with specific mutations is high, but not invariant; (2) a different beta-thalassaemia mutation has arisen within each haplotype in Mediterraneans; and (3) mutation spread from one haplotype to another occurs mainly through meiotic recombination within a 9-kilobase region 5' to the beta-globin gene. PMID:6738712

Kazazian, H H; Orkin, S H; Markham, A F; Chapman, C R; Youssoufian, H; Waber, P G

29

Role of HFE gene mutations on developing iron overload in beta-thalassaemia carriers in Egypt.  

PubMed

A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in beta-thalassaemia carriers and investigate their influence on iron absorption. A total of 41 beta-thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymorphism. The iron status in these subjects was studied and correlated with the HFE gene mutations. H63D, S65C and C282Y allele frequencies were 30.5%, 13.4% and 7.3% respectively in beta-thalassaemia carriers and 10.0%, 2.5% and 0.0% respectively in the control group. Compound heterozygosis was found in 10 carriers (24.4%). The transferrin saturation level was high in compound heterozygote cases. Our study has shown that the HFEgene mutations are common in Egypt among beta-thalassaemia carriers compared with normal controls. PMID:21796974

Madani, H A; Afify, R A; Abd El-Aal, A A; Salama, N; Ramy, N

2011-06-01

30

Effect of folate supplement on pregnant women with beta-thalassaemia minor.  

PubMed

The effect of folate supplement on the haemoglobin concentration and outcome of pregnancy was studied in a group of Chinese women with uncomplicated beta-thalassaemia minor who delivered in our hospital between 1984-1987. The patients who received 5 mg folate daily showed a significant increase in the predelivery haemoglobin concentration, which was significantly higher than that in patients who received 0.25 mg daily. When the effect of parity was analysed we found that: multiparas were significantly older, had lower haemoglobin before delivery, and more of them required transfusion. Folate 5 mg daily significantly increased the predelivery haemoglobin concentration in both nulliparas and multiparas. It is concluded that folate 5 mg daily improves the haemoglobin concentration in pregnant women with beta-thalassaemia minor and that this should be prescribed. PMID:2599250

Leung, C F; Lao, T T; Chang, A M

1989-12-01

31

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

32

Molecular heterogeneity of beta-thalassaemia in Malaysia: a practical approach to diagnosis.  

PubMed

The beta-thalassaemia mutations in 20 Malaysian children with beta-thalassaemia major were characterised by using a multi-modal approach, consisting of a slot-blot hybridisation with selected allele-specific oligonucleotides (ASO), followed by reverse dot-blot assay (RDB), amplification refractory mutation system (ARMS) and genomic sequencing. This strategy yielded a 94.4% mutation detection rate. The 6 most common mutations were codons 41/42 (-TTCT), IVS II nt 654(C --> T), IVS I nt 5(G --> C), IVS I nt 1(G -->T), codon 35 (-C) and codon 19 (A --> G), which accounted for 83.3% of all mutations detected. A strategy of initial screening with the above 6 selected ASOs for slot-blot hybridisation followed by RDB assay for the less common Asian mutations would give a mutation identification of 91.7%. Another feasible approach would be to analyse alleles from a particular racial group, by a judicious selection of 4 ASOs common to that particular subpopulation and then supplement this with RDB assay. This could yield a 100% coverage for the Chinese subpopulation in Malaysia. With these strategies, a practical approach has been identified to overcome the pitfalls posed by the molecular heterogeneity of beta-thalassaemia to enable prenatal diagnosis and carrier screening to be carried out. Regional collaborative studies are to be encouraged as an indispensable tool in providing better health care services to our patients. PMID:8779552

Thong, M K; Law, H Y; Ng, I S

1996-01-01

33

Prenatal diagnosis of beta-thalassaemia: experience in a developing country.  

PubMed

We present our experience with the amplification refractory mutation system (ARMS) for the prenatal diagnosis of beta-thalassaemia in 415 pregnancies of 360 women. Five mutations of the beta-thalassaemia gene common in Asian Indians accounted for 89.2 per cent and rare mutations for 7.2 per cent of all mutant chromosomes, while 3.3 per cent of chromosomes remained uncharacterized. Identical mutations were present in both parents in 43.2 per cent of cases, due to caste-based marriages in India. A confirmed diagnosis was given in 401 (98.3 per cent) cases, of which a complete diagnosis (whether the fetus was normal, a carrier, or homozygous) was possible in 391 (94.2 per cent) of the cases. In 15 couples, the mutation was identified in only one parent. In nine of these, the identified mutation was not present in the fetus, predicting normal/carrier status, while in five the identified mutation was present in the fetus, suggesting carrier/affected status. The abortion rate was 3.9 per cent. Pitfalls in diagnosis were failure of oligonucleotides to work, maternal contamination, and false paternity. The ARMS provides an inexpensive, robust and non-isotopic method for the prenatal diagnosis of beta-thalassaemia in India. Recommendations are outlined for establishing a prenatal diagnostic service in developing countries. PMID:9483634

Saxena, R; Jain, P K; Thomas, E; Verma, I C

1998-01-01

34

A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom.  

PubMed Central

OBJECTIVE: To demonstrate the value of a national register for surveillance of services for an inherited disorder. METHODS: Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with beta thalassaemia major, beta thalassaemia intermedia, or haemoglobin E/beta thalassaemia in the United Kingdom. Data were extracted to show outcomes (selective abortion or live birth) of all fetuses and the status of those born with a disorder (alive, dead, successful bone marrow transplant, or lost to follow-up) by parents' region of residence and ethnicity. FINDINGS: At the end of 1999 the register included 1074 patients, 807 of whom were alive and residing in the United Kingdom. A successful bone marrow transplant has been performed for 117 out of 581 (20%) patients born since 1975. Residents of Pakistani origin are now the main group at risk in the United Kingdom, replacing residents of Cypriot origin. This has led to a marked shift in the need for services from the south-east of England to the Midlands and the north of England. Despite the acceptability of prenatal diagnosis, the proportion of affected births remains 50% higher than would be expected, reflecting a widespread failure to deliver timely screening and counselling to carriers. Even though effective treatment is available the annual number of deaths is rising, indicating that better tolerated treatments are needed. CONCLUSION: A national diagnosis register is a powerful instrument for monitoring the treatment and prevention of inherited disorders and for highlighting correctable shortcomings. In view of the increasing possibilities for genetic screening there is a strong case for central funding for such databases within modern health services.

Modell, B.; Khan, M.; Darlison, M.; King, A.; Layton, M.; Old, J.; Petrou, M.; Varnavides, L.

2001-01-01

35

Thalassaemia in Azerbaijan.  

PubMed Central

beta thalassaemia is present throughout the southern regions of the former USSR. We have defined the clinical picture of the disorder, the spectrum of beta thalassaemia mutations, and the role of customary consanguineous marriage in Azerbaijan, where thalassaemia presents a public health problem of the same order as that in Greece. Contrary to earlier suggestions, we found that the common form of the disorder is typically severe. Typical Turkish, Mediterranean, Azeri, Kurdish, and Asian Indian mutations were found, consistent with the history of the region. The common Mediterranean beta 0 thalassaemia mutation (codon 39) was not found. Three mutations (codon 8-AA, IVS2-1 and IVS1-110) account for over 80% of beta thalassaemia genes. Consanguineous marriage appears to contribute relatively little to the frequency of affected births. These observations provide the basis for a thalassaemia prevention programme in Azerbaijan.

Kuliev, A M; Rasulov, I M; Dadasheva, T; Schwarz, E I; Rosatelli, C; Saba, L; Meloni, A; Gemidjioglu, E; Petrou, M; Modell, B

1994-01-01

36

Reproductive behaviour of mothers of children with beta-thalassaemia major.  

PubMed

Thalassaemia is the most common monogenic autosomal hereditary disease worldwide. This questionnaire-based cross-sectional study looked at the reproductive behaviour of 156 mothers of children affected with beta-thalassaemia major (Cooley anaemia) in Fars province, southern Islamic Republic of Iran. Regardless of the number of affected children, the parents of children with Cooley anaemia had an average of 3 unaffected children, the same as the average for the provincial population. The findings indicate that reproductive compensation occurs in families with a child with Cooley anaemia in this province. Genetic counselling, either before marriage or after the birth of the first affected child, had a significant effect on lowering the number of children born. PMID:22574478

Habibzadeh, F; Yadollahie, M; Roshanipoor, M; Haghshenas, M

2012-03-01

37

Heterogeneity in chemical mutagen-induced chromosome damage after G 2 phase exposure to bleomycin, ara-C and gentian violet in cultured lymphocytes of ?-thalassaemia traits  

Microsoft Academic Search

Chemical mutagen-induced chromosome damage was analysed in cultured peripheral blood lymphocytes from ?-thalassaemia traits and healthy individuals. This was prompted by the fact that ?-thalassaemia trait is present in 1–17% of different population groups in India. To study mutagen-induced chromosome instability, G2 lymphocytes were exposed to bleomycin, ara-C or gentian violet in 48-h cultures. Spontaneous chromosome aberration frequencies in lymphocytes

A. P. Krishnaja; N. K. Sharma

1995-01-01

38

Falling prevalence of beta-thalassaemia and eradication of malaria in the Maldives.  

PubMed

Carriers of haemoglobin disorders have protection against falciparum malaria. Therefore, where this is common, carrier prevalence rises until this selective advantage is offset by deaths of affected children. Theory predicts a corresponding fall in carrier frequency following malaria eradication, but this has not been reported in practice. In the Maldives, malaria eradication (in 1972-1975) unmasked highly prevalent beta-thalassaemia and led to services for patient care and outreach carrier screening. Analysis of 68,986 laboratory screening records for subjects born between 1960 and 1990 showed carrier prevalences ranging from 10.1% to 28.2% by atoll (related to the prevalence of falciparum malaria before eradication) and a steady fall in average carrier prevalence from 21.3% among those born in 1970 to 16% in those born in 1989. Data for individuals born before 1970 suggest that earlier, when malaria was uncontrolled, carrier prevalence was 23-25%. The observed fall in carrier prevalence was broadly consistent with a model based on genetic theory, allowing for the heterogeneous distribution of carrier prevalence and the potential contribution of consanguineous marriage. The possible effects of population mixing and reproductive compensation were calculated, and any contribution to falling carrier prevalence was excluded. It is concluded that the observed fall in thalassaemia carrier prevalence in the Maldives is consistent with the predicted effect of malaria eradication and supportive of the population genetic theory. The observed fall in average carrier prevalence corresponds to a fall in minimum affected birth prevalence from approximately 12/1,000 in 1970 to approximately 6.9/1,000 in 2007. Allowing for this effect, the National Thalassaemia Register has documented a more than 60% fall in affected birth prevalence since outreach population screening was established in 1997. The main contributing factors are considered to be limitation of final family size by informed at-risk couples and utilisation of prenatal diagnosis. PMID:22109823

Firdous, Naila; Gibbons, Stephen; Modell, Bernadette

2011-06-17

39

Influence of iron deficiency anaemia on haemoglobin A2 levels: possible consequences for beta-thalassaemia screening.  

PubMed

Iron deficiency modulates the synthesis of HbA2, resulting in reduced HbA2 levels in patients with iron deficiency anaemia. The diagnosis heterozygous beta-thalassaemia is based on a raised HbA2 level. Patients with beta-thalassaemia and concomitant iron deficiency can show normal HbA2 levels. It is of clinical importance to know the quantitative effect of iron-deficient erythropoiesis on the levels of HbA2 in order to be able to determine which iron-deficient patients with normal HbA2 levels have to be retested after iron therapy in thalassaemia screening programmes. In this study, HbA2 levels in 150 patients with iron-deficiency anaemia and 71 healthy controls have been measured. A linear correlation is found in the patient group between HbA2 and Hb, HbA2 and MCV, and HbA2 and erythrocyte zinc protoporphyrin (ZPP). In future studies, the correlation between HbA2 and erythrocyte parameters in patients with heterozygous beta-thalassaemia and concomitant iron deficiency has to be examined. We recommend that ZPP be measured in these studies too, as ZPP levels may be a better indicator of concomitant iron deficiency than Hb or MCV in thalassaemic patients. PMID:10206099

Harthoorn-Lasthuizen, E J; Lindemans, J; Langenhuijsen, M M

1999-02-01

40

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

41

Circulating CD133 + VEGFR2 + and CD34 + VEGFR2 + cells and arterial function in patients with beta-thalassaemia major  

Microsoft Academic Search

Arterial dysfunction has been documented in patients with beta-thalassaemia major. This study aimed to determine the quantity\\u000a and proliferative capacity of circulating CD133+VEGFR2+ and CD34+VEGFR2+ cells in patients with beta-thalassaemia major and those after haematopoietic stem cell transplantation (HSCT), and their\\u000a relationships with arterial function. Brachial arterial flow-mediated dilation (FMD), carotid arterial stiffness, the quantity\\u000a of these circulating cells and

Yiu-fai Cheung; Shing Chan; Mo Yang; Jie-yu Ye; Shau-yin Ha; Sophia J. Wong; Godfrey Chi-fung Chan

42

Thalassaemia in northern Liberia. A survey in the Mount Nimba area.  

PubMed Central

A population survey in northern Liberia showed an average incidence of 9 percent of beta-thalassaemia trait. There was considerable tribal variation, the highest rates being mainly found in tribes having a low incidence of Hb S. A single example of deltabeta-thalassaemia trait was also found; the incidence of delta-chain variants was 1.8 percent. The effect of malaria on Hb A2 levels was investigated but appeared to be negligible. The problems of beta-thalassaemia and Hb S occurring in the same population are discussed. It is considered that, although made on a local sample, the results of this survey indicate a high incidence of beta-thalassaemia trait elsewhere in Liberia and that this is a suitable are for investigations of linkage at beta- and delta-chain loci. No conclusion is at present possible from the data on the presence of alpha-thalassaemia although 10 percent of neonates were found to have increased levels of Hb Barts.

Willcox, M C

1975-01-01

43

Soft-tissue profile characteristics in children with beta thalassaemia major.  

PubMed

Abstract Objectives: To compare soft-tissue profile characteristics of patients with beta thalassaemia major (BTM) with a group of non-thalasseamic subjects with a similar skeletal pattern. Subjects and methods. The material for this cross-sectional retrospective study consisted of lateral cephalograms of 40 BTM patients (23 males, 17 females, aged 9.5 ± 0.97 years). These were compared with lateral cephalograms of a control group of 40 non-thalasseamic subjects (23 males, 17 females, aged 11.0 ± 0.87 years) who had similarities with the study group in the following cephalometric variables: SNA (°), SNB (°), ANB (°) and anterior face height (N-Me). Overall, 22 linear and angular soft-tissue cephalometric variables were measured. Results. Horizontal soft-tissue measurements, except for the thickness at B point (B-B'), were larger relative to non-thalasseamic subjects; particularly showing a statistically larger mean values for the following variables: soft-tissue thickness at Pronasale (ANS-Prn, p < 0.01), Subnasale (ANS-Sn, p < 0.01), point A (A-A', p < 0.01) and at the Pogonion point (Pg-Pg', p < 0.05). Compared to controls, BTM patients showed significantly larger (p < 0.05) mean values for the anterior nose length (Prn-Prn', p < 0.01) and lower nose height (Prn-Sn, p < 0.05). Variables that represented the lip profile, including the nasolabial angle, did not significantly differ from controls. The average values for the mid-face (N-ANS), posterior face height (S-Go) and the inclination of maxillary incisors to the SN plane were significantly larger (p < 0.01) in BTM patients. Conclusion: The soft-tissue profile differences in BTM patients may have implications for their future orthodontic or orthognathic management. Future studies can investigate the 3D soft-tissue changes and the possible contributing factors. PMID:23163306

Amini, Fariborz; Borzabadi-Farahani, Ali; Mashayekhi, Ziba; Pousti, Maryam; Amirtouri, Maryam

2012-11-20

44

Beta Thalassemia Trait: Detection at Birth  

Microsoft Academic Search

The synthesis of alpha, beta, and gamma chains in samples of cord blood was measured by the incorporation of leucine labeled with carbon-14 into these chains. In a newborn affected with beta thalassemia trait, the presence of one beta thalassemia gene was revealed on the 1st day of life by the lower specific radioactivity of the beta chain.

Yuet Wai Kan; David G. Nathan

1968-01-01

45

Evaluation of the diagnostic reliability of different RBC indices and formulas in the differentiation of the beta-thalassaemia minor from iron deficiency in Palestinian population.  

PubMed

Beta-thalassaemia minor and iron deficiency are the most common causes of microcytosis and/or hypochromasia. The present study evaluates the diagnostic reliability of different RBC indices and formulas, as well as our proposed formula, in the differentiation of the beta-thalassaemia minor from iron deficiency in Palestinian population. Complete blood count (CBC) parameters of 2196 certainly diagnosed (1272 beta-thalassaemia minor and 924 iron deficiency) samples were used to evaluate the following indices and formulas: Bessman index (RDW), Mentzer formula (MCV/RBC), England and Fraser formula (MCV - RBC - 5 x Hb- 3.4), Shine and Lal formula (MCV2 x MCH/100), Ehsani formula (MCV-10 x RBC), Srivastava formula (MCH/RBC), Green and King formula (MCV2 x RDW/Hb x 100), red distribution width index RDWI (RDW x MCV/RBC), RDW/RBC, as well as our formula (MCV-RBC -3 x Hb). For each index and formula, the receiver operative characteristic (ROC) curve was constructed to calculate the area under the curve (AUC), in addition, sensitivity, specificity, and likelihood ratios were calculated. No significant differences were reported between our formula, Green-King formula and the RDWI (P > 0.05) in discriminating beta-thalassaemia minor from iron deficiency (AUC = 0.914, 0.909 and 0.907 respectively). However, the three indices and formula showed the highest efficiencies and they were significantly (P < 0.05) better than the others in the discrimination efficiency . It was concluded that our formula, Green-King formula and the RDWI provided the highest reliabilities in differentiating beta-thalassaemia minor from iron deficiency in Palestinian population while Bessman index was poor and ineffective for that purpose. PMID:18445163

Sirdah, M; Tarazi, I; Al Najjar, E; Al Haddad, R

2008-08-01

46

The Prevalence of the Beta Thalassemia Trait among the Pregnant Women who attended the ANC Clinic in a PHC, by using the NESTROF Test in Bangalore, Karnataka  

PubMed Central

Contaxt: Every year in India 6000 to 8000 children are born with thalassaemia major. The birth of such a child produces considerable physical and economic strain on the affected child, its family and the community at large. Thus, the emphasis must shift from the treatment to the prevention of such births in the future. Aims: To find out the prevalence of the Beta Thalassaemia trait among the pregnant women who attended the antenatal clinics in a Primary Health Centre, by using the NESTROF test; to describe the socio-demographic characteristics of the study subjects, to find out the pregnancies which were ‘at risk’ of delivering babies with Thalassaemia major and to find out the ‘awareness’ of the pregnant women regarding Thalassaemia. Material and Methods: This exploratory study was conducted in a PHC which was attached to the Department of Community Medicine of a medical college which was situated in Bangalore, India, for a period of 3 months. All the pregnant women who attended the antenatal clinic and the husbands of the NESTROF positive women were included in the study. The details regarding the sociodemographic characteristics of the women were collected on a structured proforma and the NESTROF test was performed. Results: Out of the 210 pregnant women who were tested, 18 (8.5%) were thalassaemia carriers. 12 (66.6%) of them were between 20 – 25 years of age. 5 (27.7%) were born out of 2nd degree consanguineous marriages. 7 (38.8%) had a history of abortions, among which 6 (33.3%) were in the 1st trimesters of their pregnancies. Out of the 18 positive women, 9 (50%) had turned up with their husbands. All of the husbands were negative for the Thalassaemia carrier status. Thus, there was no pregnancy which was at a risk of delivering babies with thalassaemia major. None (100%) of the pregnant women were aware of the disease, thalassaemia. Conclusions: The prevalence of the Beta Thalassaemia trait among the pregnant women was 8.5%.

Kulkarni, Praveen; Masthi, N R Ramesh; Niveditha, SR; Suvarna, R

2013-01-01

47

Diagnosis of alpha-thalassemia trait from Coulter Counter 'S' indices.  

PubMed Central

A number of patients of Mediterranean and Asian origins were found to have unexplained microcytic hypochromic red blood cells. Iron deficiency and beta-thalassaemia trait were both satisfactorily excluded in all of them. The haematological indices of these patients, obtained on a Coulter Model 'S' Counter, were found to be very similar to those seen in obligatory heterozygotes for alpha-thalassaemia. It is postulated that these patients were also carriers for alpha-thalassaemia. Subsequent investigation of some of these patients showed the characteristically reduced rates of alpha-chain synthesis seen in this condition. The discriminant function of England and Fraser (1973) may be of help in diagnosing this state. alpha-Thalassaemia trait should be considered in all patients of 'high-risk' ethnic origins with a blood picture suggestive of beta-thalassaemia trait but in whom the levels of Hb A2 and Hb F are within normal limits.

Hegde, U M; White, J M; Hart, G H; Marsh, G W

1977-01-01

48

Modulation by flavonoids of the effects of a food mutagen in different thalassaemia genotypes in the Comet assay.  

PubMed

Thalassaemia is an inherited group of disorders caused by a reduction or total absence of one or more of the globin chains of the haemoglobin molecule. It has been shown that lymphocytes isolated from a sickle/beta thal double heterozygote-sickle phenotype patient showed increased sensitivity to the dietary food mutagen 3-amino-1-methyl-5H-pyridol(4,3-b)indole (Trp-P-2) when compared to the control. Furthermore, when a combination of Trp-P-2 with either quercitin or kaempferol was compared, the responses to Trp-P-2 were reduced to untreated control levels at the highest doses of quercitin and kaempferol. It has now been shown that using the food mutagens 2-amino-2-methylimidazolo(4,5-f)quinolone (IQ) and 2-amino-1-methyl-6-phenylimidazol(4,5-b)pyridine (PhIP) on lymphocytes of three different thalassaemia patients, a beta-thalassaemia major, a beta-thalassaemia/Hb E, and an alpha-thalassaemia trait with a 3.7-kb deletion, similar increased sensitivity could also be demonstrated. The present study investigated whether the modulatory effects of the flavonoids could be demonstrated in lymphocytes isolated from a beta-thalassaemia major and a beta-thalassaemia/Hb E patient. Lymphocytes from both a beta-thalassaemia major and beta-thalassaemia/Hb E patient showed increased sensitivity to PhIP when compared to the normal control. When a combination of PhIP and either quercitin or kaempferol was used, a reduction in the responses was seen, and at the highest doses of quercitin and kaempferol the responses were reduced to near untreated control levels and were significantly different when compared to PhIP alone (P < 0.05). It was concluded that lymphocytes from different thalassaemia genotypes showed increased sensitivity to different dietary food mutagens compared to normal lymphocytes and that flavonoids such as quercitin and kaempferol modulated the effects of these food mutagens in an antigenotoxic/antioxidant manner. PMID:14691983

Ruf, Afruj Ali; Webb, John; Anderson, Diana

2003-01-01

49

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

50

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

PubMed Central

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 daily doses of the drug up to 100 mg/kg/day, alone or in combination with ascorbic acid, were used. In three patients with thalassaemia the effect of the drug was compared with that of subcutaneous desferrioxamine at the same daily dose. In all eight patients a single dose of oral 1,2-dimethyl-3-hydroxypyrid-4-one resulted in substantial urinary iron excretion, mainly in the first 12 hours. Urinary iron excretion increased with the dose and with the degree of iron loading of the patient. Giving two or three divided doses over 24 hours resulted in higher urinary iron excretion than a single dose of the same amount over the same time. In most patients coadministration of oral ascorbic acid further increased urinary iron excretion. 1,2-Dimethyl-3-hydroxypyrid-4-one caused similar iron excretion to that achieved with subcutaneous desferrioxamine at a comparable dose. In some cases the iron excretion was sufficiently high (maximum 99 mg/day) to suggest that a negative iron balance could be easily achieved with these protocols in patients receiving regular transfusions. No evidence of toxicity was observed on thorough clinical examination or haematological and biochemical testing in any of the patients. None of the patients had any symptoms that could be ascribed to the drug. These results suggest that the oral chelator 1,2-dimethyl-3-hydroxypyrid-4-one is as effective as subcutaneous desferrioxamine in increasing urinary iron excretion in patients loaded with iron. Its cheap synthesis, oral activity, and lack of obvious toxicity at effective doses suggest that it should be developed quickly and thoroughly tested for the management of transfusional iron overload.

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

1987-01-01

51

Counselling for prenatal diagnosis of sickle cell disease and beta thalassaemia major: a four year experience  

Microsoft Academic Search

A non-directive programme of prenatal counselling was used during a four year period. Forty-three couples at risk for having a baby with a haemoglobinopathy were identified. Prenatal diagnosis was offered in 19 pregnancies to 14 couples at risk of having a baby with sickle cell anaemia and in two pregnancies in two couples at risk of a baby with beta

E N Anionwu; N Patel; G Kanji; H Renges; M Brozovi?

1988-01-01

52

Observations on the resistance in Hb E thalassaemia disease to induced infection with Plasmodium vivax  

PubMed Central

Subjects with sickle cell trait have been known to offer resistance to induced Plasmodium falciparum infection. The resistance to malarial infection in other haemoglobinopathic disorders is not clearly known. Investigations were undertaken to test for resistance to malaria in Hb E thalassaemia disease. Compared to controls, subjects with Hb E thalassaemia disease were found to have significant resistance to induced Plasmodium vivax infection.

Ray, R. N.; Chatterjea, J. B.; Chaudhuri, R. N.

1964-01-01

53

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

PubMed Central

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.

2013-01-01

54

Effect of increased haemoglobin levels on growth hormone (GH) secretion in beta-thalassaemia major: differences between prepubertal subjects and patients with delayed puberty.  

PubMed

Basal and L-dopa-stimulated secretion of growth hormone (GH) was investigated in 10 patients with beta-thalassaemia major. Five patients were prepubertal (chronological age 8 to 12 years), whereas 5 patients had delayed puberty (chronological age 15 to 19 years). Ten normal prepubertal subjects (chronological age 8 to 11 years) served as the control group. Each thalassaemic patient was subjected to two L-dopa tests (0.5 g L-dopa plus 0.7 mg/Kg body weight propranolol, orally): one was performed under conditions of low haemoglobin (Hb) levels (30 days after the last blood transfusion), and the second in the presence of increased Hb concentrations (10 days after the transfusion of packed red blood cells). Before the transfusion of packed red blood cells, basal GH concentrations were significantly higher in the patients with delayed puberty (4.3 +/- 1.6 ng/ml), than in prepubertal thalassaemic (1.8 +/- 0.9 ng/ml, p less than 0.05) and control (1.9 +/- 1.0 ng/ml, p less than 0.02) subjects. In contrast, the pituitary responsiveness to L-dopa, expressed as the relative maximum response for GH (GH delta %), was significantly higher in the latter two groups (8.5-fold, p less than 0.05, and 10.9-fold, p less than 0.02, respectively). The transfusion of packed red blood cells increased significantly Hb concentrations in both groups of thalassaemic patients (prepubertal +27%, p less than 0.05, delayed puberty +33%, p less than 0.025, respectively).(ABSTRACT TRUNCATED AT 250 WORDS) PMID:3243342

Celani, M F; Rota, C; Messori, A; Cellini, M; Massolo, F

1988-12-01

55

Renal aspects of thalassaemia a changing paradigm.  

PubMed

Beta-thalassaemia is characterised by progressive anaemia necessitating regular blood transfusions to sustain life. With the advent of effective chelating agents that can reduce the iron burden and extend patients' survival, renal disease, as in other ageing populations, has become more prevalent. In recent years, chronic kidney disease (CKD) has become overwhelming; indeed, approximately 8% or 6 million people of the UK population has evidence of CKD. Several factors, which occur in patients with thalassaemia, account for the relative explosion of renal disease in the general population including increasing age, diabetes, hypertension and the advent of novel measures of renal function facilitating early detection of kidney disease. In addition, some patients with thalassaemia develop renal tubular dysfunction related to the disease itself, the effects of iron overload and the effects of chelator therapy, while other patients have an increased creatinine clearance leading to hyperfiltration. More recently, there is a noticeable increasing prevalence of impaired renal function and proteinuria because of several putative factors including chelators. We review current data on the potential mechanisms leading to renal abnormalities seen in patients with thalassaemia, the potential effects of iron loading within the kidney and the potential renal effects of chelator therapy. This article gives a speculative account of possible mechanisms and theories to consider providing pause for thought and direct future research in this area. PMID:22687050

Bhandari, Sunil; Galanello, Renzo

2012-07-21

56

Study of Mutations in ?-Thalassemia Trait among Blood Donors in Eastern Uttar Pradesh  

PubMed Central

Background: Knowledge on distribution of different mutations of thalassaemia, which are prevalent in a particular area, is a prerequisite for prenatal diagnosis. Objectives: Studying mutations in ? – thalassaemia trait among blood donors in eastern Uttar Pradesh, India. Material and Methods: One thousand non – remunerated voluntary blood donors who were between 18 – 40 years of age, were included in the study. Both replacement and voluntary healthy blood donors were included. 4ml of venous blood was collected and it was stored at 4°C. Complete Blood Count (CBC), Haemoglobinopathy Screening and Molecular Analysis by ARMS – PCR (Amplification Refractory Mutation System – PCR) were done. Screening for ? thalassaemia was done in a blood bank by using D – 10, Bio Rad, which was based on High Performance Liquid Chromatography (HPLC). Results: Twenty Eight subjects with ?– thalassaemia trait were found among 1000 voluntary blood donors. IVS 1-5 (G-C) mutation was most common type (50%), followed by FS 8/9 (+G) 25% which was the second most common type. In our study, a rare mutation of CD 16 (-C) was also found. Out of 14 subjects who had IVS 1-5 (G-C) mutation (most common), six were from Varanasi (6/261) and five of them were Sindhis. It was seen that FS 41/42 (TCTT) mutation was distributed among all groups of populations which had higher prevalences of ?-thalassaemia trait. Conclusion: A comprehensive knowledge on beta thalassaemia mutations is necessary for determining a prenatal diagnosis. The occurrence of mutations may vary according to geographic region. Therefore, this study dealt with current problem of unknown mutations, in order to avoid complications.

Meena, L P; Kumar, K; Singh, V K; Bharti, Anju; Rahman, S K H; Tripathi, K

2013-01-01

57

Endocrinopathy in thalassaemia major.  

PubMed Central

Pituitary, adrenal, and pancreatic functions were investigated in 9 patients with thalassaemia major. 9 a.m. plasma ACTH values were 148-480 pg/ml (normal range 15-70 pg/ml). Cortisol and growth hormone response to insulin-induced hypoglycaemia was normal in all. 24-hour urinary excretions of 17-ketosteroids and 17-hydroxycorticosteroids were normal. There was normal cortisol response to intramuscular injection of ACTH. In a physiological adrenal stimulation test there was a significantly smaller response to each physiological dose of tetracosactrin. 4 patients had diabetic glucose tolerance tests--none are clinically diabetic. The mean plasma glucose utilization constant (Kgl=2-02) is significantly smaller than normal. Plasma insulin response both in the oral and the intravenous glucose tolerance test was significantly smaller than normal. The data were consistent with severe and widespread impairment of endocrine function and a plausible explanation would be iron deposition in endocrine organs. It is suggested that pituitary hyperfunction of ACTH secretion is due to target organ unresponsiveness which can be shown in its early stages only by a physiological test of the adrenal cortex. Skin pigmentation in thalassaemia seems to be due to the melanophore-stimulating effect of this raised plasma ACTH.

McIntosh, N

1976-01-01

58

Distribution of alpha thalassaemia gene variants in diverse ethnic populations in malaysia: data from the institute for medical research.  

PubMed

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. PMID:24025420

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

2013-09-10

59

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

60

Thalassaemia Carrier Testing in Pakistani Adults: Behaviour, Knowledge and Attitudes  

Microsoft Academic Search

Objectives: To describe ?-thalassaemia (thalassaemia) carrier testing behaviour (whether tested or intentions of testing) amongst a sample of UK Pakistani adults; their level of knowledge about thalassaemia, and their attitudes toward thalassaemia carrier testing. Method: In a cross-sectional design semi-structured interviews, data were obtained from 59 Pakistani adults including 19 parents of children with thalassaemia; 20 of their relatives, and

Shenaz Ahmed; Hilary Bekker; Jenny Hewison; Sally Kinsey

2002-01-01

61

RBC-Y/MCV as a discriminant function for differentiating carriers of thalassaemia and HbE from iron deficiency.  

PubMed

Individuals with alpha-thalassaemia (ATT), beta-thalassaemia (BTT) and HbE trait (HET) are often initially identified based on haematological parameters. However, the values of these parameters usually overlap with iron deficiency anaemia (IDA) and anaemia of chronic disease (ACD). We evaluated the use of RBC-Y in 156 normal individuals and 332 patients; ATT (n = 37), BTT (n = 61), HET (n = 25), HbH disease (n = 5), ACD (n = 67), IDA (n = 83) and ACD with IDA (n = 54). Diagnostic efficiency was analysed by receiver operating characteristics (ROC). MCH was better compared with RBC-Y in discriminating normal from abnormal with sensitivity and specificity of 94% at a cut-off of 26 pg. The Green and King (G&K) index performed the best in discriminating carriers from IDA and ACD with area under the ROC curve (AUC(ROC)) of 0.81. However, if ACD was excluded, RBC-Y/MCV was a good discriminator for carriers from IDA with AUC(ROC) = 0.845. In general screening of populations with ATT, BTT and HET, we propose that hypochromic individuals be first identified by MCH <26 pg and carriers distinguished within these hypochromic individuals from IDA by using RBC-Y/MCV. However, if the prevalence of ACD were high within the screening population, G&K index would be a more suitable discriminator. PMID:19566741

Nadarajan, V S; Sthaneshwar, P; Jayaranee, S

2009-06-26

62

Screening for intermediate and severe forms of thalassaemia in discarded red blood cells: optimization and feasibility.  

PubMed

Detection and quantification of Hb subtypes of human blood is integral to presumptive identification of thalassaemias. It has been used in neonatal screening of thalassaemia and Hb variants. The use of discarded red blood cells following processing of the cord blood for stem cells provides readily available diagnostic material for thalassaemia screening. In this study, we determined the range of Hb subtypes in 195 consecutive cord blood samples collected for cord blood banking. The 'cord blood samples' analysed were those of the remaining red blood cells after the cord blood was processed for stem cell storage. Quantification of Hb subtypes by high performance liquid chromatography (HPLC) was done on BioRad Variant II Hb testing system. Only 73 (36.5%) of the samples could be analyzed neat without dilution. With a 1:300 dilution with wash solution the acceptable area as recommended by the manufacturer for reading of a C-gram within the 1 to 3 million ranges were achieved in all. Eighteen (9%) 12 showed classical Hb Barts (y4) prerun peaks were confirmed by Sebia Hydrasys automated Hb gel electrophoresis and quantified by Sebia Capillarys 2 capillary electrophoresis. Only 1 (0.5%) was presumptively identified with HbH disease. Due to the limited number of samples no beta-thalassaemia major, Hb E beta-thalassaemia and Hb Barts hydrops fetalis were found. The HPLC assay was possible at a cost US$ 5 per sample and a turnover time of 10 samples per hour without technical difficulties. This study reports an effective and valuable protocol for thalassaemia screening in red blood cells which would otherwise be discarded during cord blood processing. Cord blood with severe and intermediate forms of thalassaemia can be preselected and not stored. PMID:22390095

George, Elizabeth; Lai, Mei I; Teh, Lai Kuan; Ramasamy, Rajesh; Goh, Ern Huei; Asokan, Kamalan; Tan, J A M A; Vasudevan, Maithili; Low, Sharon

2011-12-01

63

Bone marrow transplantation in thalassaemia patients in Shiraz, Islamic Republic of Iran.  

PubMed

We report the results of allogeneic bone marrow transplantation in 26 female and 37 male patients with beta-thalassaemia major (age range: 2-17 years), performed at Namazi Hospital over the period 1992-99. In all cases, standard conditioning and immunosuppressive regimens were employed. Currently, 50 patients remain thalassaemia-free, 9 of whom have developed chronic graft-versus-host disease. There were 8 deaths among the 13 unsuccessful transplant cases: 4 due to acute uncontrollable graft-versus-host disease, and 4 to non-transplant-related causes such as hypoglycaemia, hypersensitivity reactions and advanced disease. We conclude that allogeneic bone marrow transplantation is an effective therapy for the treatment of beta-thalassaemia major, particularly for patients classified as classes I and II. PMID:15332787

Khojasteh, H N; Zakerinia, M; Ramzi, M; Haghshenas, M

64

The beta-binomial model for estimating heritabilities of binary traits  

Microsoft Academic Search

Calculations of individual narrow-sense heritability and family mean heritability of a binary trait in stochastically simulated sib trials in completely randomized block experiments showed that in some situations estimates of “realized” heritabilities obtained from the mixed linear threshold model could be improved by application of a proposed beta-binomial model. The proposed model adopts the beta-binomial as the conjugate-prior for the

S. Magnussen; A. Kremer

1995-01-01

65

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

66

Alpha thalassaemia and extended alpha globin genes in Sri Lanka.  

PubMed

The ?-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE ? thalassaemia in Sri Lanka. As well as the common deletion forms of ?(+) thalassaemia three families from an ethnic minority were found to carry a novel form of ?(0) thalassaemia, one family carried a previously reported form of ?(0) thalassaemia, --(THAI), and five families had different forms of non-deletional thalassaemia. The patients with HbE ? thalassaemia who had co-inherited ? thalassaemia all showed an extremely mild phenotype and reduced levels of HbF and there was a highly significant paucity of ?(+) thalassaemia in these patients compared with the normal population. Extended ? gene arrangements, including ???, ???? and ?????, occurred at a low frequency and were commoner in the more severe phenotypes of HbE ? thalassaemia. As well as emphasising the ameliorating effect of ? thalassaemia on HbE ? thalassaemia the finding of a novel form of ?(0) thalassaemia in an ethnic minority, together with an unexpected diversity of forms of non-deletion ? thalassaemia in Sri Lanka, further emphasises the critical importance of micro-mapping populations for determining the frequency of clinically important forms of the disease. PMID:23138098

Suresh, Sasikala; Fisher, Christopher; Ayyub, Helena; Premawardhena, Anuja; Allen, Angela; Perera, Ashok; Bandara, Dayananda; Olivieri, Nancy; Weatherall, David

2012-11-06

67

Simple method for screening of ?-thalassaemia 1 carriers  

Microsoft Academic Search

?-Thalassaemia 1 genetic disorder occurs when there is a deletion of two linked ?-globin genes. The interaction between these\\u000a abnormal genes leads to the most severe type of thalassaemia disease, haemoglobin (Hb) Bart’s hydrops fetalis. The identification\\u000a of ?-thalassaemia 1 carriers and genetic counselling are essential for the prevention and control of severe thalassaemia diseases.\\u000a In this study, we have

Chatchai Tayapiwatana; Surakit Kuntaruk; Thanusak Tatu; Sawitree Chiampanichayakul; Thongperm Munkongdee; Pranee Winichagoon; Suthat Fuchareon; Watchara Kasinrerk

2009-01-01

68

Public perceptions and attitudes toward thalassaemia: Influencing factors in a multi-racial population  

Microsoft Academic Search

Background Thalassaemia is a common public health problem in Malaysia and about 4.5 to 6% of the Malays and Chinese are carriers of this genetic disorder. The major forms of thalassaemia result in death in utero of affected foetuses (?-thalassaemia) or life-long blood transfusions for survival in ?-thalassaemia. This study, the first nationwide population based survey of thalassaemia in Malaysia,

Li Ping Wong; Elizabeth George; Jin-Ai Mary Anne Tan

2011-01-01

69

The use of real-time PCR technique in the detection of novel protein 4.2 gene mutations that coexist with thalassaemia alpha in a single patient  

PubMed Central

?-Thalassaemia is a very rare disease in Northern Europe in contrast to hereditary spherocytosis that is associated with red blood cell membrane defects. We report here ?-thalassaemia case who was also found to bear the erythrocyte membrane protein 4.2 gene mutations. mRNA relative quantification of red cell membrane protein genes in a Polish patient with ?-thalassaemia trait indicated EPB42 as the gene that could also be involved in anaemia pathogenesis. Sequencing revealed the presence of two novel mutations in the protein 4.2 gene: a G1701A genetic change that predicts an alanine to threonine at position 567 of the protein (A567T) and a T?A substitution that is located at position +6 of the donor splice site of intron 2 (IVS2nt+6T>A). This is the sixth variant of the erythrocyte membrane protein 4.2 gene mutations identified outside the Japanese population.

Maciag, Monika; Adamowicz-Salach, Anna; Siwicka, Alicja; Spychalska, Justyna; Burzynska, Beata

2009-01-01

70

Liver disease in transfusion dependent thalassaemia major  

Microsoft Academic Search

Aims: To study the prevalence and severity of liver diseases of transfusion dependent thalassaemia major patients, and correlate the histological and biochemical changes of iron overload in liver with the peripheral blood markers.Method: Liver biopsy was performed to assess the histological changes and liver iron content (LIC).Results: One hundred patients were evaluated (median age 11.7 years, range 1.5–27). A total

C K Li; K W Chik; C W K Lam; K F To; S C H Yu; V Lee; M M K Shing; A Y K Cheung; P M P Yuen

2002-01-01

71

Polymorphism of follicle stimulating hormone beta (FSH?) subunit gene and its association with litter traits in giant panda.  

PubMed

The different SSCP patterns of the follicle stimulating hormone beta (FSH?) gene amplified by three pairs of primers were sequenced. Comparisons among the three nucleotide sequences of three genotypes indicated that three base substitutions (A213T, A91G, and A89C) were detected in FSH? gene, which A213T substitution led to one amino acids mutation (Lys > Met), and the other two substitutions were synonymous mutations. The AA, AB and BB genotypes patterns obtained by FSH? primer1 had evident relation with the litter traits, but the SSCP genotypes patterns obtained by FSH? primer2 and primer3 had no evident relation with the litter traits in giant panda. The giant panda with AA and AB genotype had the largest litter size and multiparity rate compared with the BB genotypes (P < 0.05). We speculated that the giant pandas with the A allele have better litter traits than those with the B allele. PMID:24057246

Huang, Xiaoyu; Li, Desheng; Wang, Jiwen; Huang, Yan; Han, Chunchun; Zhang, Guiquan; Huang, Zhi; Wu, Honglin; Wei, Ming; Wang, Guosong; Hu, Haiping; Deng, Tao; He, Tao; Zhou, Yingming; Song, Shixian; Luo, Bo; Zhang, Heming

2013-09-22

72

Health related quality of life in Malaysian children with thalassaemia  

Microsoft Academic Search

BACKGROUND: Health Related Quality of Life (HRQoL) studies on children with chronic illness such as thalassaemia are limited. We conducted the first study to investigate if children with thalassaemia have a lower quality of life in the four dimensions as measured using the PedsQL 4.0 generic Scale Score: physical, emotional, social and role (school) functioning compared to the healthy controls

Adriana Ismail; Michael J Campbell; Hishamshah Mohd Ibrahim; Georgina L Jones

2006-01-01

73

Osteoporosis Syndrome in Thalassaemia Major: An Overview  

PubMed Central

Osteoporosis in thalassaemia major (TM) represents a prominent cause of morbidity. The mechanism of pathogenesis of bone disease (BD) in TM is multifactorial and complicated. Peak bone mass is achieved shortly after completion of puberty and normally remains stable until the third decade of life when age-related bone mass begins. Growth hormone (GH) and sex steroids play a crucial role in bone remodeling and in the maintenance of skeletal architecture during adult life. GH and insulin growth factors (IGFs) have anabolic effect in bone formation. Sex steroids act probably by increasing the expression of RANKL by osteoblastic cells and alterations in the RANK/RANKL/OPG system in favor of osteoclasts. Impaired GH secretion and lack of sex steroids in thalassemic patients due to pituitary damage, contribute to failure of achieving optimal peak bone mass. Other endocrine complications such as hypoparathyroidism and vitamin D deficiency have also a detrimental role on bones in TM. It is still questionable whether the international criteria for defining osteopenia and osteoporosis are relevant to patients with TM; also a question arises for the diagnostic methods such as DEXA scan and management of osteoporosis with known treatment protocols, in the thalassaemic patient.

Toumba, Meropi; Skordis, Nicos

2010-01-01

74

Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.  

PubMed

Beta thalassaemia is a major public health problem in India. A comprehensive database of the spectrum of mutations causing beta thalassaemia in the Indian population is necessary. This study in which a large number of patients with beta thalassaemia including those from certain regions that were not explored earlier shows a great heterogeneity of mutations. Several novel and rare alleles that have not been reported earlier in the Indian population have been identified, and mutations differ in frequency in different regions of the country. This information on the spectrum of mutations has implications for the control of beta thalassaemia in a population with complex ethnic background and also on the genotype-phenotype correlation of the disease. PMID:18294253

Edison, E S; Shaji, R V; Devi, S G; Moses, A; Viswabandhya, A; Mathews, V; George, B; Srivastava, A; Chandy, M

2008-02-20

75

Public perceptions and attitudes toward thalassaemia: Influencing factors in a multi-racial population  

PubMed Central

Background Thalassaemia is a common public health problem in Malaysia and about 4.5 to 6% of the Malays and Chinese are carriers of this genetic disorder. The major forms of thalassaemia result in death in utero of affected foetuses (?-thalassaemia) or life-long blood transfusions for survival in ?-thalassaemia. This study, the first nationwide population based survey of thalassaemia in Malaysia, aimed to determine differences in public awareness, perceptions and attitudes toward thalassaemia in the multi-racial population in Malaysia. Methods A cross-sectional computer-assisted telephone interview survey of a representative sample of multi-racial Malaysians aged 18 years and above was conducted between July and December 2009. Results Of a total of 3723 responding households, 2846 (76.4%) have heard of thalassaemia. Mean knowledge score was 11.85 (SD ± 4.03), out of a maximum of 21, with higher scores indicating better knowledge. Statistically significant differences (P < 0.05) in total knowledge score by age groups, education attainment, employment status, and average household income were observed. Although the majority expressed very positive attitudes toward screening for thalassaemia, only 13.6% of married participants interviewed have been screened for thalassaemia. The majority (63.4%) were unsupportive of selective termination of foetuses diagnosed with thalassaemia major. Conclusion Study shows that carrier and premarital screening programs for thalassaemia may be more effective and culturally acceptable in the reduction of pregnancies with thalassaemia major. The findings provide insights into culturally congruent educational interventions to reach out diverse socio-demographic and ethnic communities to increase knowledge and cultivate positive attitudes toward prevention of thalassaemia.

2011-01-01

76

Takayasu's arteritis presenting with temporary loss of vision in a 23-year-old woman with beta thalassemia trait: a case report  

PubMed Central

Introduction The simultaneous presence of Takayasu's arteritis and beta thalassemia trait is a rare combination. To the best of our knowledge, this is the first case report on Takayasu's arteritis and beta thalassemia presenting together. Case presentation This is a case report of a 23-year-old Asian woman of Pakistani descent who presented with a headache, blurred vision and dizziness. Conclusion The correct diagnosis of our patient was based on clinical suspicion, appropriate imaging studies, and deliberation of the differential diagnosis. The management of our patient depended on the correct diagnosis of both the diseases.

2011-01-01

77

Sensitivity and Specificity of Simple Erythrocyte Osmotic Fragility Test for Screening of Alpha-Thalassemia-1 and Beta-Thalassemia Trait in Pregnant Women  

Microsoft Academic Search

Aims: To evaluate the validity of new simple qualitative osmotic fragility test (simple OF) as a screening test in predicting thalassemia trait (alpha-thalassemia-1 and beta-thalassemia). Methods: This diagnostic test study was conducted on non-anemic pregnant women attending antenatal care clinic, Maharaj Nakorn Chiang Mai Hospital, during September 2007, and June 2008. Blood samples were collected from 477 singleton pregnancies with

Fuanglada Tongprasert; Supatra Sirichotiyakul; Wirawit Piyamongkol; Theera Tongsong

2010-01-01

78

Relationship between mixed chimerism and rejection after bone marrow transplantation in thalassaemia  

PubMed Central

Background Thalassaemia is a genetic disease that requires a hypertransfusion regimen to treat the anaemia caused by enhanced red blood cell destruction. The only radical cure for thalassaemia is to correct the genetic defect by bone marrow transplantation from an HLA-identical donor capable of producing and maintaining a normal haemoglobin level in the recipient. Complete donor haematopoiesis is not essential for sustained engraftment and the simultaneous presence of haematopoietic cells of both donor and recipient origin is not a rare event after a transplant. Patients and methods The evolution of marrow engraftment of 93 transplanted thalassaemic patients, all from Middle East or Asian countries, was monitored by analysis of short tandem repeats. Results Forty-three of 93 (46%) patients experienced a status of mixed chimerism early after bone marrow transplantation. Results of further engraftment analysis in these patients showed in 27 complete donor engraftment; rejection occurred in seven, while eight maintained the presence of both host and donor-derived cells. Interestingly, five out of the seven patients who rejected their transplant showed more than 25% residual host cells early after transplantation. Discussion and conclusion Our study confirmed that the presence of large amounts of residual host cells within the first 2 months after a transplant is a risk factor for graft rejection also in a group of patients with wide ethnic heterogeneity, irregular transfusion regimens and/or poor chelation treatment. Ten percent of the transplanted thalassaemic patients maintained coexistence of donor and recipient cells, showing a stable functional graft, characterized by normal production of beta globin chains and high levels of haemoglobin. A mechanism responsible for peripheral tolerance induction, such as the production of specific regulatory T-cell clones, seems to play a key role in the induction of long-term tolerance after the transplant.

Andreani, Marco; Testi, Manuela; Battarra, Mariarosa; Indigeno, Paola; Guagnano, Annalisa; Polchi, Paola; Federici, Giorgio; Lucarelli, Guido

2008-01-01

79

The Diagnosis of ?-Thalassaemia: A Case of Hemoglobin H -? Deletion.  

PubMed

We report a case of hemolytic anemia that was subsequently identified to be a case of ?-thalassaemia harboring the common rightward 3.7 kb deletion/HbH. The diagnosis was based on sequential analyses using BioRad D10 HPLC, Alkaline gel electrophoresis, GPO ? THAL-IC strips and the identification of the specific genetic lesion using an ? Globin reverse dot blot hybridization assay. Supravital stain of RBCs helped in identifying classical HbH inclusions. In a background of a variable clinical presentation, lack of definitive hematological markers, and general under-diagnosis of ?-thalassaemias we have used this case to highlight the features and sequence of techniques involved in identifying and characterizing an ?-globin chain mutation, starting from a diffuse clinical history and presentation up to the identification of a specific genetic lesion involved. PMID:21966120

Bhat, Vijay S; Dewan, Kalyan Kumar; Krishnaswamy, Patnam Rajagopalan

2010-09-14

80

Absence of the ?-thalassaemia syndromes in Egyptian Arabs  

PubMed Central

An investigation was undertaken to find the incidence of ?-thalassaemia in Egypt. Blood was collected from the umbilical cords of 550 newborns and from 630 adults from central hospitals in Cairo that drain patients from all over Egypt. Starch gel electrophoreses at both pH 8·6 and 7·0, and brilliant cresyl blue incubation revealed the absence of haemoglobins Barts and H in the blood specimens examined.

Selim, O.; Kamel, K.; Sabry, F.; Ibrahim, A.; Weatherall, D. J.

1974-01-01

81

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

82

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

83

Expression of embryonic hemoglobin genes in mice heterozygous for. cap alpha. -thalassemia or. beta. -duplication traits and in mice heterozygous for both traits  

SciTech Connect

Hemoglobins of mouse embryos at 11.5 through 16.5 days of gestation were separated by electrophoresis on cellulose acetate and quantitated by a scanning densitometer to study the effects of two radiation-induced mutations on the expression of embryonic hemoglobin genes in mice. Normal mice produce three kinds of embryonic hemoglobins. In heterozygous ..cap alpha..-thalassemic embryos, expression of EI (x/sub 2/y/sub 2/) and EII (..cap alpha../sub 2/y/sub 2/) is deficient because the x- and ..cap alpha..-globin genes of one of the allelic pairs of Hba on chromosome 11 was deleted or otherwise inactivated by X irradiation. Simultaneous inactivation of the x- and ..cap alpha..-globin genes indicates that these genes must be closely linked. Reduced x- and ..cap alpha..-chain synthesis results in an excess of y chains that associate as homotetramers. This unique y/sub 4/ hemoglobin also appears in ..beta..-duplication embryos where excess y chains are produced by the presence of three rather than two functional alleles of y- and ..beta..-globin genes. In double heterozygotes, which have a single functional allele of x- and ..cap alpha..-globin genes and three functional alleles of y- and ..beta..-globin genes, synthesis of ..cap alpha.. and non-..cap alpha.. chains is severely imbalanced and half of the total hemoglobin is y/sub 4/. Mouse y/sub 4/ has a high affinity for oxygen, P/sub 50/ of less than 10 mm Hg, but it lacks cooperativity so is inefficient for oxygen transport. The death of double heterozygotes in late fetal or neonatal life may be in large part to oxygen deprivation to the tissues.

Popp, R.A.; Marsh, C.L.; Skow, L.C.

1981-01-01

84

Spinal cord compression due to epidural extramedullary haematopoiesis in thalassaemia: MRI  

Microsoft Academic Search

Spinal epidural extramedullary haematopoiesis is very rare in thalassaemia. A 27-year-old man with thalassaemia intermedia\\u000a presented with symptoms and signs of spinal cord compression. MRI showed a thoracic spinal epidural mass, representing extramedullary\\u000a haematopoietic tissue, compressing the spinal cord. Following radiotherapy, serial MRI revealed regression of the epidural\\u000a mass and gradual resolution of spinal cord oedema.

Ü. Ayd?ngöz; A. Oto; A. Cila

1997-01-01

85

[No deletion alpha thalassaemia in Spain. Abnormal hematological index and molecular study].  

PubMed

The alpha thalassaemia diseases in most cases are caused by deletions that affect one or two of the alpha genes, being less frequent the cases due to punctual mutations, insertions or deletions of a few pairs of bases, which have been denominated no deletion a thalassaemias. The objective of this investigation was to determine the incidence of the no deletion alpha thalassaemia in patients with a thalassaemia using molecular biology techniques. We studied 517 individuals of the San Carlos Hospital (Thalassemia Molecular Research Center, Madrid-Spain) between January 2001 and December 2003, in whom iron deficiency anemia had been ruled out, that presented microcytosis and hypochromia and that presented normal HbA2, HbF and EEF from normal Hbs. The two types of no deletion a thalassaemia most frequently described in the Mediterranean were studied: 1) alpha Hph due to deletion of 5bp in the IVS I and 2) alphaNco due to a change in the initiation codon of the gene. Of the 517 cases studied, 40 (7.7% of the cases) represented a no deletion alpha thalassaemia. Of these cases, 28 were positive for alphaHph of the alpha2 gene, 24 in the heterozygote state, one homozygote and three double heterozygotes associated with the 3,7 kb deletion. The remaining 12 cases were positive for the alphaNco of the alpha2 gene, 10 heterozygotes, one homozygote and one double heterozygote associated with the 4,2 kb deletion. The no deletion alpha thalassaemias represent < 8% from the cases in our environment. The alphaHph is the most frequent type of no deletion a thalassaemia and its haematological abnormalities are more manifest that the ones present in the cases of alphaNco. PMID:21866784

Briceño Polacre, Olga María; González Fernández, Fernando Ataúlfo; Ropero Gradilla, Paloma; Ruiz, Ana; González, Maczy; Briceño, José; Camacho, María Carolina; Villegas Martínez, Ana

2011-06-01

86

Choosing offspring: prenatal genetic testing for thalassaemia and the production of a ‘saviour sibling’ in China  

Microsoft Academic Search

This paper focuses on the pre-natal genetic testing and reproductive decision-making around thalassaemia in China. Findings are based on fieldwork conducted in hospitals and research institutions, interviews with families with thalassaemia-affected children, interviews with geneticists and genetic researchers and a literature review conducted between September and November 2007. The paper aims to provide insight into the ways in which those

Suli Sui; Margaret Sleeboom-Faulkner

2010-01-01

87

[Effect of Triton X-100 on genetic segregation and associated monocotyledonous and dicotyledonous traits in sugarbeet (Beta vulgaris L.)].  

PubMed

The effect of Triton X-100 (TX-100) on the ratio of phenotypic classes and the expression of morphological traits in the progeny of sugar beet hybrids (N12 and N2) was investigated. It was shown that the TX-100 exposition on the unopened flower buds of sugar beets has different effects on hybrid progenies. In agamospermic progeny of hybrid plant No 12km-4, a significant decrease in the heteroallelic (heterozygous) phenotypic classes of alcohol dehydrogenase (ADH1) fraction was determined in the nonagamospermic progeny of hybrid plant No 2km-2 appearance of sugar beet seedlings with one cotyledon leaf was detected. The obtained results indicate the high efficiency of the epimutagenic effect of TX-100 on the early stages of plant ontogenesis. PMID:24159801

2013-05-01

88

Relationships of a transforming growth factor-beta2 single nucleotide polymorphism and messenger ribonucleic acid abundance with bone and production traits in chickens.  

PubMed

Osteoporosis is a serious problem for the laying hen industry with economic, production, and welfare consequences. Transforming growth factor-beta2 (TGFbeta2) has been implicated as an important factor in coupling bone resorption and formation in bone remodeling. The current study was designed to determine if TGFbeta2 was associated with variation in bone mineralization in chickens, using 2 complementary experimental approaches. First, an intronic single nucleotide polymorphism (SNP) present in TGFbeta2 was investigated in an F(2) population to determine its association with bone, growth, and egg traits of importance to the layer and broiler industries. The TGFbeta2 SNP was significantly associated (P < 0.05) with bone mineral density and content. However, these associations became nonsignificant when BW was included as a covariate in analyses. The TGFbeta2 SNP was also significantly associated (P < 0.05) with BW from 1 to 6 wk of age and egg production from 46 to 55 wk of age. To further explore the relationship between TGFbeta2 and bone strength, bone marrow TGFbeta2 mRNA abundance was compared between broiler and layer chickens at 15, 35, and 60 wk of age. Bone and egg traits were measured along with mRNA abundance at each age and found to differ significantly between lines. The TGFbeta2 mRNA abundance was approximately 4-fold greater in broiler compared with layer hens at 15 wk of age but was similar between lines at later ages. Thus, even though the TGFbeta2 SNP will likely not be an effective marker for improving bone strength independently of changes in BW, further research is warranted to investigate the relationship of TGFbeta2 mRNA abundance to bone strength in laying hens. PMID:17435015

Bennett, A K; Hester, P Y; Spurlock, D M

2007-05-01

89

Choosing offspring: prenatal genetic testing for thalassaemia and the production of a 'saviour sibling' in China.  

PubMed

This paper focuses on the pre-natal genetic testing and reproductive decision-making around thalassaemia in China. Findings are based on fieldwork conducted in hospitals and research institutions, interviews with families with thalassaemia-affected children, interviews with geneticists and genetic researchers and a literature review conducted between September and November 2007. The paper aims to provide insight into the ways in which those who carry thalassaemia decide to have a test for the condition and the choices available to prospective parents. The paper also analyses factors affecting reproductive choices and the decision to produce a 'saviour sibling', including financial implications, state family planning policy, images and information conveyed through the media and propaganda, advice and counselling from doctors, psychological pressure from the community and social discrimination. The paper concludes with a discussion on the issues involved in the creation of saviour siblings, some of which are particular to China. PMID:19499399

Sui, Suli; Sleeboom-Faulkner, Margaret

2010-02-01

90

A complex haemoglobinopathy diagnosis in a family with both ?o- and ?o\\/+-thalassaemia homozygosity  

Microsoft Academic Search

The occurrence of point mutation ?-thalassaemia and of complex combinations of haemoglobin defects is underestimated. Haemoglobinopathies, the most frequent monogenic recessive autosomal disorder in man, occur predominantly in Mediterranean, African and Asiatic populations. However, countries of immigration with a low incidence in the indigenous population, are now confronted with a highly heterogeneous array of imported defects. Furthermore, the occurrence of

PC Giordano; CL Harteveld; LA Bok; P van Delft; D Batelaan; FA Beemer; LF Bernini

1999-01-01

91

Red blood cell alloimmunisation among Chinese patients with ?-thalassaemia major in Taiwan  

PubMed Central

Background The development of red blood cell (RBC) antibodies can significantly complicate transfusion therapy in transfusion-dependent patients with thalassaemia. However, few data are available on the frequency of RBC alloimmunisation in the Chinese population with ?-thalassaemia major. Materials and methods In this retrospective study, we investigated the development of RBC antibodies among Chinese patients with ?-thalassaemia major who had received long-term transfusion therapy with leucodepleted blood in our hospital over a period of 20 years. Results Of the 64 patients studied, six (9.4%) developed RBC alloantibodies, including four anti-E, one anti-C and one anti-“Mia”. All of the six alloimmunised patients had experienced previous transfusion reactions, while only 12 of the 58 non-immunised patients had had previous transfusion reactions (100% vs 15.5%; p <0.001). After subsequent transfusions with RBC which were negative for the antigens for the corresponding alloantibodies, all the RBC alloantibodies became undetectable within 1 year without additional interventions to eliminate them. Conclusions RBC alloantibodies in Chinese patients with ?-thalassaemia major in Taiwan were different from those in other populations. The development of RBC alloantibodies was associated with previous transfusion reactions. Additional treatment may not be necessary for patients with alloantibodies.

Chao, Yu-Hua; Wu, Kang-Hsi; Lu, Jang-Jih; Shih, Mu-Chin; Peng, Ching-Tien; Chang, Ci-Wen

2013-01-01

92

Heterozygous ?-thalassaemia as a susceptibility factor in mood disorders: excessive prevalence in bipolar patients  

PubMed Central

Background Previous preliminary reports have suggested potential interactions between microcytic anaemia and mood disorders. In particular, heterozygous ?-thalassaemia has been implicated in the bipolar spectrum. This study surveyed relevant haematological parameters in a large sample of psychiatric outpatients with the aim of clarifying previous observations. Methods Mean Corpuscular Volume (MCV) was analysed in 1014 consecutive patients diagnosed according to modified Research Diagnostic Criteria (RDC). Haemoglobin electrophoresis and/or chromatography was performed in blood samples from 143 patients with reduced MCV. Prevalence of heterozygous ?-thalassaemia was estimated based on the rates of patients with reduced MCV and increased haemoglobin A2 concentration. Results MCV lower than 80 ?3 was found in greater proportions among bipolar compared with the remaining RDC subgroups (183/732 = 25.0% versus 51/282 = 18.1%; p = 0.02; relative risk = 1.38; Fisher's exact test). This difference can mainly be attributed to heterozygous ?-thalassaemia, the estimated prevalence of which was 16.4% among bipolar and 9.9% among non-bipolar subgroups (p = 0.01; relative risk = 1.65). Conclusion The results are consistent with the hypothesis that heterozygous ?-thalassaemia might play a role as a susceptibility factor in bipolar spectrum disorders in specific populations.

2005-01-01

93

Factors Influencing Effectiveness of Deferiprone in a Thalassaemia major Clinical Setting  

Microsoft Academic Search

The effectiveness of deferiprone (L1) and the influence of other factors were determined in a clinical setting. Patients of Southern Italian origin, affected by ?-thalassaemia major (n = 13: 7 M, 6 F), aged 10–28 years (median 18 years), were treated with L1 within a ‘Controlled Programme’ of the Italian Ministry of Health. Desferrioxamine could not be administered in these

Giovanni Carlo Del Vecchio; Elisabetta Crollo; Federico Schettini; Francesco Schettini; Roland Fischer; Domenico De Mattia

2000-01-01

94

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

95

Prenatal Diagnosis of Homozygous beta -Thalassemia. Final Report for the Period 1 January 1977-31 October 1979.  

National Technical Information Service (NTIS)

An in vitro test for the prenatal diagnosis of homozygous beta -thalassaemia and its application is described. The basic methodology consists in obtaining a minute specimen of placental blood by blind aspiration or foetoscopy at the 18th to 20th week of g...

D. Loukopoulos

1980-01-01

96

Profiling ?-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes  

Microsoft Academic Search

Thalassaemia and sickle cell disease have been recognized by the World Health Organization as important inherited disorders\\u000a principally impacting on the populations of low income countries. To create a national and regional profile of ?-thalassaemia\\u000a mutations in the population of India, a meta-analysis was conducted on 17 selected studies comprising 8,505 alleles and offering\\u000a near-national coverage for the disease. At

S. Sinha; M. L. Black; S. Agarwal; R. Colah; R. Das; K. Ryan; M. Bellgard; A. H. Bittles

2009-01-01

97

The Diagnosis of ?-Thalassaemia: A Case of Hemoglobin H -?3.7 Deletion  

PubMed Central

We report a case of hemolytic anemia that was subsequently identified to be a case of ?-thalassaemia harboring the common rightward 3.7 kb deletion/HbH. The diagnosis was based on sequential analyses using BioRad D10 HPLC, Alkaline gel electrophoresis, GPO ? THAL-IC strips and the identification of the specific genetic lesion using an ? Globin reverse dot blot hybridization assay. Supravital stain of RBCs helped in identifying classical HbH inclusions. In a background of a variable clinical presentation, lack of definitive hematological markers, and general under-diagnosis of ?-thalassaemias we have used this case to highlight the features and sequence of techniques involved in identifying and characterizing an ?-globin chain mutation, starting from a diffuse clinical history and presentation up to the identification of a specific genetic lesion involved.

Dewan, Kalyan Kumar; Krishnaswamy, Patnam Rajagopalan

2010-01-01

98

Paediatric allogeneic bone marrow transplantation for homozygous ?-thalassaemia, the Dutch experience  

Microsoft Academic Search

We reviewed the results of the Dutch paediatric bone marrow transplant (BMT) program for children receiving HLA-identical BMT for ?-thalassaemia major over an 18-year period. In all, 19 patients underwent a total of 21 transplants in our treatment centre between July 1984 and February 2002. Eight females (age 0.3–12 years; median 5 years) and 11 males (age 0.8–18 years; median

L M Ball; A C Lankester; P C Giordano; M H van Weel; C L Harteveld; R G M Bredius; F J Smiers; R M Egeler; J M J J Vossen

2003-01-01

99

First premarital screening of thalassaemia carriers in intermediate schools in Latium.  

PubMed Central

In the 1975 to 1976 school year, under the auspices of the Health Authorities of the Latium Region, the Rome Microcythaemia Centre carried out for the first time a partial screening survey of thalassaemia carriers among the students of the compulsory intermediate school in Latium. This work was the beginning of a new preventive school health service aimed at the prophylaxis of Cooley's disease. In 23 places investigated in Latium, 17724 students were examined, 13354 of whom were in Rome and 4370 elsewhere. The mean percentage of co-operation was 70% and the mean percentage of thalassaemia 2.42%. Thalassaemic students were invited to attend the centre for a check-up along with their families: about half had already come in by the end of June 1976. All students examined, whether normal or thalassaemic, have received written results of the tests. The screening survey aroused notable interest and obtained wide approval both at school and at home. The news of being thalassaemia carriers, even if not welcome, was never the cause of family tragedy.

Silvestroni, E; Bianco, I; Graziani, B; Carboni, C; D'Arca, S U

1978-01-01

100

A beta-1,3-galactosyltransferase and brainiac/bre5 homolog expressed in the midgut did not contribute to a Cry1Ab toxin resistance trait in Ostrinia nubilalis.  

PubMed

Post-translational glycosylation of midgut epithelial protein and lipid receptors may be required prior to binding of activated Bacillus thuringiensis (Bt) Cry toxins. A 931bp cDNA encoding a putative 297-residue beta-1,3-galactosyltransferase (beta3GalT5) was cloned from larval Ostrinia nubilalis midgut tissue, and showed homology to Drosophila brainiac (brn) and Caenorhabditis elegans bre5 proteins. Single nucleotide polymorphisms (SNPs) were detected in coding and promoter regions of O. nubilalis beta3GalT5 (Onb3GalT5), of which 3 of 31 CDS SNPs were non-synonymous. SNPs within HaeIII and MspI recognition sites were confirmed by PCR-RFLP, and are Mendelian inherited. Analysis of F(2) pedigrees suggested an Onb3GalT5 SNP C660 fixed within a Cry1Ab-resistant colony was not correlated with Cry1Ab resistance traits, as measured by higher larval O. nubilalis weights when fed toxin-containing diet. PMID:17368198

Coates, Brad S; Sumerford, Douglas V; Hellmich, Richard L; Lewis, Leslie C

2007-01-17

101

[Major beta-thalassemia and bone marrow allograft. Two cases and a study of the literature].  

PubMed

A 5 year 9 month-old boy has received a bone marrow allograft for beta-thalassaemia major. Conditioning included busulfan: 16 mg/kg, cyclophosphamide 200 mg/kg and a (6 Gy) thoracoabdominal irradiation. After a 16 months follow-up, the child is currently in complete remission without treatment with all the markers of his donor. His 9 year-old sister has been allografted for beta-thalassaemia major, with the same conditioning regimen. After engraftment, rejection occurred at day 85 with severe aplastic anaemia. A second graft was performed with the same donor without engraftment and the patient died at day 18 of pneumonitis. A review of the literature is proposed and the ethical choices are discussed. PMID:3329338

Frappaz, D; Freycon, F; Richard, O; Galacteros, F; Bertheas, M F; Dutou, L; Bouteille, M

1987-01-01

102

Delay between pregnancy confirmation and sickle cell and thalassaemia screening: a population-based cohort study  

PubMed Central

Background Antenatal sickle cell and thalassaemia screening sometimes occurs too late to allow couples a choice regarding termination of affected fetuses. The target gestational age for offering the test in the UK is 10 weeks. Aim To describe the proportion of women screened before 70 days' (10 weeks') gestation and the delay between pregnancy confirmation in primary care and antenatal sickle cell and thalassaemia screening. Design of study Cohort study of reported pregnancies. Setting Twenty-five general practices in two UK inner-city primary care trusts offering universal screening. Method Anonymised data on all pregnancies reported to participating general practices was collected for a minimum of 6 months. Results There were 1441 eligible women intending to proceed with their pregnancies, whose carrier status was not known. The median (interquartile range [IQR]) gestational age at pregnancy confirmation was 7.6 weeks (6.0–10.7 weeks) and 74% presented before 10 weeks. The median gestational age at screening was 15.3 weeks (IQR = 12.6–18.0 weeks), with only 4.4% being screened before 10 weeks. The median delay between pregnancy confirmation and screening was 6.9 weeks (4.7–9.3 weeks) After allowing for practice level variation, there was no association between delay times and maternal age, parity, and ethnic group. Conclusion About 74% of women consulted for pregnancy before 10 weeks' gestation but fewer than 5% of women were screened before the target time of 10 weeks. Reducing the considerable delay between pregnancy confirmation in primary care and antenatal sickle cell and thalassaemia screening requires methods of organising and delivering antenatal care that facilitate earlier screening to be developed and evaluated.

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

2008-01-01

103

Population genetics of haemoglobin variants, thalassaemia and glucose-6-phosphate dehydrogenase deficiency, with particular reference to the malaria hypothesis  

PubMed Central

The authors report data on the genetic distribution of thalassaemia and of glucose-6-phosphate dehydrogenase deficiency in the populations of certain Sardinian villages, many of which are not only of great antiquity but have maintained isolation for very long periods and therefore possess the following three requirements for suitability for investigation of the possible interrelationships among malaria, thalassaemia and G-6-PD deficiency: a reasonable degree of ethnic homogeneity, availability of reliable demographic data, and availability of malaria-free populations of adequate size and of ethnic background and genetic isolation similar to those of the malarial populations. Investigations including more than 6000 observations in 52 villages demonstrated a positive correlation between the incidences of thalassaemia and G-6-PD deficiency. It is suggested that the genotype that carries thalassaemia and/or the enzyme deficiency may have a high adaptive value in a malarial environment. It is concluded that there is a need further to investigate human genetic structure and the biological fitness of the principal genotype combinations in both existing environments and those that will result from continued cultural evolution. ImagesFIG. 1

Siniscalco, M.; Bernini, L.; Filippi, G.; Latte, B.; Khan, P. Meera; Piomelli, S.; Rattazzi, M.

1966-01-01

104

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

105

Long-term Chelation Therapy in Thalassaemia Major: Effect on Liver Iron Concentration, Liver Histology, and Clinical Progress  

Microsoft Academic Search

A prospective trial of continuous chelation therapy in children with homozygous thalassaemia on a high transfusion regimen was started in April 1966. The effect of treatment on iron concentration in the liver and on hepatic histology was examined in 49 biopsy specimens obtained from nine chelator-treated patients and nine control patients between April 1966 and April 1973.Chelation therapy was associated

Michael Barry; David M. Flynn; Elizabeth A. Letsky; R. A. Risdon

1974-01-01

106

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

107

Thalassaemia and Glucose6Phosphate Dehydrogenase Screening in 13- to 14YearOld Students of the Sardinian Population: Preliminary Findings  

Microsoft Academic Search

Objectives: In this paper we describe the outline and results of a 7-year screening programme for thalassaemias and glucose-6-phosphate dehydrogenase (G6PD) deficiency in 13- to 14-year-old students from the Sardinian population. Method: This programme had several steps: formal education on thalassaemia, request of informed consent by parents, blood testing and genetic counselling. Results:Out of 63,285 subjects tested, 6,521 (10.3%) were

A. Cao; R. Congiu; M. C. Sollaino; M. F. Desogus; F. R. Demartis; D. Loi; M. Cau; R. Galanello

2008-01-01

108

Monte Carlo simulation on the effect of different approaches to thalassaemia on gene frequency.  

PubMed

We used computer simulation to determine variation in gene, heterozygous and homozygous frequencies induced by 4 different approaches to thalassaemia. These were: supportive therapy only; treat homozygous patients with a hypothetical modality phenotypically only; abort all homozygous fetuses; and prevent marriage between gene carriers. Gene frequency becomes constant with the second or the fourth strategy, and falls over time with the first or the third strategy. Heterozygous frequency varies in parallel with gene frequency. Using the first strategy, homozygous frequency falls over time; with the second strategy it becomes constant; and with the third and fourth strategies it falls to zero after the first generation. No matter which strategy is used, the population gene frequency, in the worst case, will remain constant over time. PMID:17037238

Habibzadeh, F; Yadollahie, M

109

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

2013-09-20

110

?-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C -> T/-28 A -> C  

PubMed Central

A Spanish male patient with ?-thalassaemia major was studied. Compound heterozygosity was found for one of the most common ?-globin gene mutations in the Spanish population (codon 39 C ? T) and for a mutation in the TATA box element of the ?-globin gene promoter (?28 A ? C mutation). To our knowledge this is the first report of a CD39 C ? T and ?28 A ? C change association and the first report of the ?28 A ? C substitution in a Spanish patient.

Gamarra, Soledad; Garcia-Effron, Guillermo; Monteserin, Carmen; Lopez-Villar, Isabel; Gilsanz, Florinda; Martinez-Lopez, Joaquin

2009-01-01

111

Rapid, accurate genotyping of the common -?4.2 thalassaemia deletion based on the use of denaturing HPLC  

PubMed Central

Aims: To develop an alternative assay for specific genotyping of the ??4.2 thalassaemia deletion based on the DNA sequence features surrounding the breakpoint. Methods: The 5? and 3? ends of the breakpoint regions of the ??4.2 allele and the normal homologous segments were sequenced in Chinese individuals. A sequence haplotype composed of four single nucleotide variations within the X2/X1 box of the ??4.2 breakpoint region was found in all of the 10 Chinese ??4.2 thalassaemia alleles studied. Based on these findings, a novel polymerase chain reaction (PCR)/denaturing high performance liquid chromatography (DHPLC) assay was developed for rapid genotyping of the ??4.2 allele instead of traditional Southern blotting or Gap-PCR. This method involves amplification of the ? globin target sequence encompassing these four polymorphic sites, followed by a partially denaturing HPLC analysis using the transgenomic WAVE DNA fragment analysis system. Results: The three major genotypes (??4.2/??, ??4.2/--SEA, and ??/??) could be distinguished through the characteristic chromatograms generated by the WAVE system. The accuracy of this technique was evaluated blindly, and the results were 100% (40 of 40) concordant with the genotypes previously characterised by Southern blotting or Gap-PCR. Conclusions: This study validates the PCR/DHPLC approach as a simple, rapid, highly accurate, and cost effective method, potentially adaptable for use in epidemiological surveys, genetic screening, and diagnosis of silent ?+ thalassaemia and Hb H disease.

Ou-Yang, H; Hua, L; Mo, Q H; Xu, X M

2004-01-01

112

?0 Thalassaemia as a result of a novel 11.1 kb deletion eliminating both of the duplicated ? globin genes  

PubMed Central

Aims: To characterise a novel 11.1 kb deletion that eliminated both of the duplicated ? globin genes, giving rise to a typical ?0 thalassaemia phenotype in four carriers from a Chinese family. Methods: Haematological investigations were carried out on all family members. The seven common forms of ? thalassaemia were screened for by the polymerase chain reaction (PCR) and Southern blotting was used to analyse the ? globin gene cluster. DNA sequence analysis of the entire ?1 and ?1 globin gene region was carried out and reverse transcription (RT)-PCR was used to investigate the transcription levels of the ? and ? globin genes. Results: The breakpoints were found to lie between coordinates 31695–31724 and 42846–42867 of the ? globin gene cluster (NG_000006), with a total of about 11 135 nucleotides deleted. These sequences are involved in (CA)n repeats, suggesting a homologous recombination event. RT-PCR analysis gave a transcription level of the ? globin gene in heterozygotes comparable with that of SEA deletion heterozygotes, confirming no output of ? globin from the linked pair of ? globin genes. The heterozygosity for this novel deletion was confirmed by PCR diagnosis in all four carriers from this family. Conclusions: This rare mutation constitutes an additional heterogeneous defect causing ? thalassaemia in the Chinese population.

Jia, S-Q; Li, J; Mo, Q-H; Liao, C; Li, L-Y; Xu, X-M

2004-01-01

113

Freshwater Biological Traits Database.  

National Technical Information Service (NTIS)

The Freshwater Biological Traits Database currently contains traits data for 3,857 North American macroinvertebrate taxa and includes habitat, life history, mobility, morphology, and ecological trait data. Species traits are the characteristics that expla...

2012-01-01

114

Desensitization to hydroxycarbamide following long-term treatment of thalassaemia intermedia as observed in vivo and in primary erythroid cultures from treated patients.  

PubMed

Hydroxycarbamide (HC) is a pharmacological agent capable of stimulating fetal haemoglobin (HbF) production during adult life. High levels of HbF may ameliorate the clinical course of ?-thalassaemia and sickle cell disease. The efficacy of HC for the treatment of thalassaemia major and thalassaemia intermedia is variable. Although an increase of HbF has been observed in most patients, only some patients experience significant improvement in total haemoglobin levels. This study aimed to determine the effectiveness and safety of short- (1 year) and long-term (mean follow-up 68 months) HC treatment in 24 thalassaemia intermedia patients. Additionally, we evaluated if primary erythroid progenitor cells cultured from treated patients responded to HC treatment in a manner similar to that observed in vivo. Our results confirm a good response to HC after a short-term follow-up in 70% of thalassaemia intermedia patients and a reduction of clinical response in patients with a long follow-up. Erythroid cultures obtained from patients during treatment reproduced the observed in vivo response. Interestingly, haematopoietic stem cells from long-term treated patients showed reduced ability to develop into primary erythroid cultures some months before the reduction of the 'in vivo' response. The mechanism of this loss of response to HC remains to be determined. PMID:20955403

Rigano, Paolo; Pecoraro, Alice; Calzolari, Roberta; Troia, Antonio; Acuto, Santina; Renda, Disma; Pantalone, Gaetano Restivo; Maggio, Aurelio; Di Marzo, Rosalba

2010-10-19

115

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

2013-01-08

116

Comparison of the HbH inclusion test and a PCR test in routine screening for alpha thalassaemia in Hong Kong.  

PubMed Central

AIM: To compare the haemoglobin (Hb) H inclusion test with a polymerase chain reaction (PCR) test in routine screening for alpha thalassaemia. METHODS: Ninety nine peripheral blood samples from Chinese patients with mean corpuscular volume below 80 fl were screened for alpha thalassaemia using the HbH inclusion test and by PCR utilising primers bridging the common deletion breakpoint of the South East Asian (--SEA/) deletion. RESULTS: The HbH inclusion test was positive in 78 (79%) patients, 73 (93.7%) of whom carried the (--SEA/) deletion on analysis of their DNA by PCR, as did one patient with a negative HbH inclusion test. CONCLUSIONS: These results suggest that in areas with a high prevalence of the (--SEA/) deletion, such as Hong Kong, the HbH inclusion test can be replaced by PCR as the investigation of choice in screening for alpha thalassaemia. Images

Chan, A Y; So, C K; Chan, L C

1996-01-01

117

Respiratory function in patients with thalassaemia major: relation with iron overload  

PubMed Central

Aims: (1) To determine the pattern of respiratory impairment in children with thalassaemia major (TM); (2) to assess the relation between the degree of respiratory impairment and total body iron content. Methods: Twenty nine TM patients were recruited. All underwent physical examination, standardised pulmonary function tests (spirometry, lung volume, and single breath diffusion capacity for carbon monoxide), and magnetic resonance imaging measurements of the liver. Serum ferritin was measured. The signal intensity ratio of liver to that of paraspinal muscle (T1 weighted sequence) and serum ferritin were used as surrogate index of body iron content. Results: Sixteen boys and 13 girls (median age 14.2 years) were studied. None had clinical evidence of congestive heart failure. Sixteen had normal lung function. Impairment of diffusion capacity (median DLco 83.5% predicted) was the most common abnormality, being observed in 34% of patients. Pure restrictive and obstructive ventilatory impairment was found in one and two patients respectively. Five patients had a combination of ventilation and diffusion defects. There was no correlation between the degree of impairment of each respiratory abnormality and body iron content. Conclusion: Diffusion impairment was the commonest abnormality found in our cohort of paediatric TM patients. Our data did not support the notion that respiratory function impairment was correlated with body iron content.

Li, A; Chan, D; Li, C; Wong, E; Chan, Y; Fok, T

2002-01-01

118

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

119

The Trait in Latent Trait Theory.  

ERIC Educational Resources Information Center

Significant to a latent trait or item response theory analysis of a mental test is the determination of exactly what is being quantified. The following are practical problems to be considered in the formulation of a good theory: (1) deciding whether two tests measure the same trait or traits; (2) analyzing the relative contributions of a pair of…

Levine, Michael V.

120

The Least-Squares Estimation of Latent Trait Variables.  

ERIC Educational Resources Information Center

This paper presents a new method for estimating a given latent trait variable by the least-squares approach. The beta weights are obtained recursively with the help of Fourier series and expressed as functions of item parameters of response curves. The values of the latent trait variable estimated by this method and by maximum likelihood method…

Tatsuoka, Kikumi

121

Service support to families caring for a child with a sickle cell disorder or thalassaemia: the experience of health professionals, service managers and health commissioners  

Microsoft Academic Search

Until recently, health care policy has largely ignored sickle cell disorders (SCDs) and thalassaemia. This is despite the difficulties faced by service users and their families: the consequences of which range from denial of informed choice to avoidable suffering and stress. This article, by presenting material from a qualitative evaluation of service support to families caring for a child with

Karl Atkin; Waqar Ahmad; Elizabeth Anionwu

1998-01-01

122

Decision-Making and Ante-Natal Screening for Sickle Cell and Thalassaemia DisordersTo What Extent do Faith and Religious Identity Mediate Choice?  

Microsoft Academic Search

When making decisions about prenatal diagnosis, couples not only draw on their understanding of the condition but also broader aspects of their cultural identity. This article looks at how faith and religion mediate attitudes towards screening, prenatal diagnosis and termination of pregnancy for sickle cell and thalassaemia disorders. The article specifically reports on a qualitative study, which used focus groups

Karl Atkin; Shenaz Ahmed; Jenny Hewison; Josephine M. Green

2008-01-01

123

Quantitative trait loci in Drosophila  

Microsoft Academic Search

Phenotypic variation for quantitative traits results from the simultaneous segregation of alleles at multiple quantitative trait loci. Understanding the genetic architecture of quantitative traits begins with mapping quantitative trait loci to broad genomic regions and ends with the molecular definition of quantitative trait loci alleles. This has been accomplished for some quantitative trait loci in Drosophila. Drosophila quantitative trait loci

Trudy F. C. Mackay

2001-01-01

124

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

2011-10-11

125

Personal Traits and \\  

Microsoft Academic Search

The group peer rating technique is employed to develop highly reliable measures of 16 personality traits for 445 adult workers and 237 high school seniors. Several of these traits are found to have high predictive validity for pay differentials, supervisor's ratings, and school grades. Dimensions derived from multidimensional scaling of the traits explain between 19 and 43 percent of the

Richard C. Edwards

1977-01-01

126

Prospective study of histomorphometry, biochemical bone markers and bone densitometric response to pamidronate in ?-thalassaemia presenting with osteopenia-osteoporosis syndrome.  

PubMed

This study aimed to evaluate bone remodelling disorders in thalassaemia by using pamidronate (PD) infusion with or without hormone replacement therapy (HRT) as a diagnostic-therapeutic tool. In this prospective study, 24 adult thalassaemia major (TM) and 10 thalassaemia intermedia (TI) patients received either PD and HRT or HRT only (controls) for 3 years. Eugonadal patients with TI had PD only. Bone remodelling was assessed by dual energy X ray absorptiometry (DXA scan), type 1-collagen biochemical bone markers (BBM) and histomorphometry of iliac crest biopsy before and after PD. As a group, thalassaemics had a significant improvement in spinal and femoral bone mineral density Z scores following PD (P < 0·01) compared to the controls. Although BBM were comparable pre-therapy, they were significantly lower in the PD cohort (P < 0·001) compared to the control group. All patients had osteopenia, diminished osteoid formation and bone volume on histomorphometry pre-therapy with high turnover bone disease (HTO) in TM and low-turnover disease (LTO) in TI. In TM, bone volume improved significantly, whereas TI patients showed little or no response to PD. In conclusion, histomorphometry data suggest that TM patients have a distinct pathology of high turnover bone disease compared to TI patients, who have low-turnover disease. PMID:22966867

Chatterjee, Ratna; Shah, Farrukh T; Davis, Bernard A; Byers, Margaret; Sooranna, Dev; Bajoria, Rekha; Pringle, Jean; Porter, John B

2012-09-12

127

Beta Thalassemia  

MedlinePLUS

... South Asian (Indian, Pakistani, etc.), Southeast Asian and Chinese descent. ß Normal beta globin genes found on chromosomes 11 ß ..then there is a 25% chance with each pregnancy that their child will inherit two abnormal beta ...

128

Polyarthrite rhumatoïde associée à un trait bêta-thalassémique : aspect clinique, sérologique et immunogénétique  

Microsoft Academic Search

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

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

2004-01-01

129

The Trait Psychology Controversy.  

ERIC Educational Resources Information Center

Arguments associated with trait psychology are reviewed with an application in the field of sport psychology. The role of cognition and perception in sport and physical activities is also discussed. (CJ)

Morgan, William P.

1980-01-01

130

Dilution of genetic traits  

US Patent & Trademark Office Database

Undesirable genetic traits, such as resistance to toxin, can be inhibited or reversed by introducing sexually compatible individuals substantially homozygous for the sensitive allele, such as the wild type, into the target population.

2011-08-16

131

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

132

Allele-dependent barley grain beta-amylase activity.  

PubMed

The wild ancestor of cultivated barley, Hordeum vulgare subsp. spontaneum (K. Koch) A. & Gr. (H. spontaneum), is a source of wide genetic diversity, including traits that are important for malting quality. A high beta-amylase trait was previously identified in H. spontaneum strains from Israel, and transferred into the backcross progeny of a cross with the domesticated barley cv Adorra. We have used Southern-blot analysis and beta-amy1 gene characterization to demonstrate that the high beta-amylase trait in the backcross line is co-inherited with the beta-amy1 gene from the H. spontaneum parent. We have analyzed the beta-amy1 gene organization in various domesticated and wild-type barley strains and identified three distinct beta-amy1 alleles. Two of these beta-amy1 alleles were present in modern barley, one of which was specifically found in good malting barley cultivars. The third allele, linked with high grain beta-amylase activity, was found only in a H. spontaneum strain from the Judean foothills in Israel. The sequences of three isolated beta-amy1 alleles are compared. The involvement of specific intron III sequences, in particular a 126-bp palindromic insertion, in the allele-dependent expression of beta-amylase activity in barley grain is proposed. PMID:9625721

Erkkilä, M J; Leah, R; Ahokas, H; Cameron-Mills, V

1998-06-01

133

State and trait anxiety revisited  

Microsoft Academic Search

State and trait anxiety theory and assessment are reviewed. The person (trait anxiety) and the situation are important in determining levels of state anxiety. The facet of trait anxiety and the stressful situation must be congruent in order to evoke increases in state anxiety. The multidimensional interaction model is reviewed and empirical research is presented. A discussion of anxiety viewed

Norman S Endler; Nancy L Kocovski

2001-01-01

134

Mapping Quantitative Trait Loci for Longitudinal Traits in Line Crosses  

PubMed Central

Quantitative traits whose phenotypic values change over time are called longitudinal traits. Genetic analyses of longitudinal traits can be conducted using any of the following approaches: (1) treating the phenotypic values at different time points as repeated measurements of the same trait and analyzing the trait under the repeated measurements framework, (2) treating the phenotypes measured from different time points as different traits and analyzing the traits jointly on the basis of the theory of multivariate analysis, and (3) fitting a growth curve to the phenotypic values across time points and analyzing the fitted parameters of the growth trajectory under the theory of multivariate analysis. The third approach has been used in QTL mapping for longitudinal traits by fitting the data to a logistic growth trajectory. This approach applies only to the particular S-shaped growth process. In practice, a longitudinal trait may show a trajectory of any shape. We demonstrate that one can describe a longitudinal trait with orthogonal polynomials, which are sufficiently general for fitting any shaped curve. We develop a mixed-model methodology for QTL mapping of longitudinal traits and a maximum-likelihood method for parameter estimation and statistical tests. The expectation-maximization (EM) algorithm is applied to search for the maximum-likelihood estimates of parameters. The method is verified with simulated data and demonstrated with experimental data from a pseudobackcross family of Populus (poplar) trees.

Yang, Runqing; Tian, Quan; Xu, Shizhong

2006-01-01

135

Mapping quantitative trait loci for longitudinal traits in line crosses.  

PubMed

Quantitative traits whose phenotypic values change over time are called longitudinal traits. Genetic analyses of longitudinal traits can be conducted using any of the following approaches: (1) treating the phenotypic values at different time points as repeated measurements of the same trait and analyzing the trait under the repeated measurements framework, (2) treating the phenotypes measured from different time points as different traits and analyzing the traits jointly on the basis of the theory of multivariate analysis, and (3) fitting a growth curve to the phenotypic values across time points and analyzing the fitted parameters of the growth trajectory under the theory of multivariate analysis. The third approach has been used in QTL mapping for longitudinal traits by fitting the data to a logistic growth trajectory. This approach applies only to the particular S-shaped growth process. In practice, a longitudinal trait may show a trajectory of any shape. We demonstrate that one can describe a longitudinal trait with orthogonal polynomials, which are sufficiently general for fitting any shaped curve. We develop a mixed-model methodology for QTL mapping of longitudinal traits and a maximum-likelihood method for parameter estimation and statistical tests. The expectation-maximization (EM) algorithm is applied to search for the maximum-likelihood estimates of parameters. The method is verified with simulated data and demonstrated with experimental data from a pseudobackcross family of Populus (poplar) trees. PMID:16751670

Yang, Runqing; Tian, Quan; Xu, Shizhong

2006-06-04

136

EF Bart's disease: interaction of the abnormal alpha- and beta-globin genes.  

PubMed

EF Bart's disease is an uncommon form of thalassaemia intermedia resulting from the co-inheritance of alpha-thalassaemia and haemoglobin E in the same subject. Starch-gel electrophoresis revealed two phenotypes in 19 patients with EF Bart's. 16 patients had Hbs CS + E + F + Bart's and the remainder had Hbs E + F + Bart's. DNA mapping and haemoglobin electrophoresis indicated that there are four genotypes, involving 5 abnormal globin genes, responsible for this thalassaemia syndrome. PMID:3342862

Fucharoen, S; Winichagoon, P; Thonglairuam, V; Wasi, P

1988-01-01

137

Trait emotional intelligence and the dark triad traits of personality.  

PubMed

This study presents the first behavioral genetic investigation of the relationships between trait emotional intelligence (trait EI or trait emotional self-efficacy) and the Dark Triad traits of narcissism, Machiavellianism, and psychopathy. In line with trait EI theory, the construct correlated positively with narcissism, but negatively with the other two traits. Generally, the correlations were consistent across the 4 factors and 15 facets of the construct. Cholesky decomposition analysis revealed that the phenotypic associations were primarily due to correlated genetic factors and secondarily due to correlated nonshared environmental factors, with shared environmental factors being nonsignificant in all cases. Results are discussed from the perspective of trait EI theory with particular reference to the issue of adaptive value. PMID:21314254

Petrides, K V; Vernon, Philip A; Schermer, Julie Aitken; Veselka, Livia

2011-02-01

138

Anxiety traits among medical students  

Microsoft Academic Search

Objetive: To evaluate the presence and intensity of anxiety traits among medical students. Method: The Spielberger Trait Anxiety Inventory was applied to 603 regularly matriculated students at ABC Medical School, Sao Paulo, Brazil. Results: 86.9% (524) of all six grades students answered the Inven- tory, 20.1% had scored 49 or more anxiety-traits symptoms, suggesting a high level of a anxiety

Sergio Baldassin; Lourdes Conceição Martins; Arthur Guerra de Andrade

2006-01-01

139

The interactive effect of change in perceived stress and trait anxiety on vagal recovery from cognitive challenge.  

PubMed

The present study tested the hypothesis that the change in state negative affect (measured as perceived stress) after cognitive challenge moderates the relationship of trait anxiety and anger to vagal recovery from that challenge. Cardiac vagal control (assessed using heart rate variability) and respiratory rate were measured in a sample of 905 participants from the Midlife in the United States Study. Cognitive challenges consisted of computerized mental arithmetic and Stroop color-word matching tasks. Multiple regression analyses controlling for the effects of the demographic, lifestyle, and medical factors influencing cardiac vagal control showed a significant moderating effect of change in perceived stress on the relationship of trait anxiety to vagal recovery from cognitive challenges (Beta=.253, p=.013). After adjustment for respiratory rate, this effect became marginally significant (Beta=.177, p=.037). In contrast, for the relationship of trait anger to vagal recovery, this effect was not significant either before (Beta=.141, p=.257) or after (Beta=.186, p=.072) adjusting for respiratory rate. Secondary analyses revealed that among the individuals with higher levels of trait anxiety, greater reductions in perceived stress were associated with greater increases in cardiac vagal control after the challenge. In contrast, among the individuals with lower levels of trait anxiety, changes in perceived stress had no impact on vagal recovery. Therefore, change in perceived stress moderates the relationship of trait anxiety, but not trait anger, to vagal recovery from cognitive challenge. PMID:21945037

Crowley, Olga V; McKinley, Paula S; Burg, Matthew M; Schwartz, Joseph E; Ryff, Carol D; Weinstein, Maxine; Seeman, Teresa E; Sloan, Richard P

2011-09-21

140

The interactive effect of change in perceived stress and trait anxiety on vagal recovery from cognitive challenge  

PubMed Central

The present study tested the hypothesis that the change in state negative affect (measured as perceived stress) after cognitive challenge moderates the relationship of trait anxiety and anger to vagal recovery from that challenge. Cardiac vagal control (assessed using heart rate variability) and respiratory rate were measured in a sample of 905 participants from the Midlife in the United States Study. Cognitive challenges consisted of computerized mental arithmetic and Stroop color-word matching tasks. Multiple regression analyses controlling for the effects of the demographic, lifestyle, and medical factors influencing cardiac vagal control showed a significant moderating effect of change in perceived stress on the relationship of trait anxiety to vagal recovery from cognitive challenges (Beta = .253, p= .013). After adjustment for respiratory rate, this effect became marginally significant (Beta = .177, p= .037). In contrast, for the relationship of trait anger to vagal recovery, this effect was not significant either before (Beta = .141, p=.257) or after (Beta = .186, p=.072) adjusting for respiratory rate. Secondary analyses revealed that among the individuals with higher levels of trait anxiety, greater reductions in perceived stress were associated with greater increases in cardiac vagal control after the challenge. In contrast, among the individuals with lower levels of trait anxiety, changes in perceived stress had no impact on vagal recovery. Therefore, change in perceived stress moderates the relationship of trait anxiety, but not trait anger, to vagal recovery from cognitive challenge.

Crowley, Olga V.; McKinley, Paula S.; Burg, Matthew M.; Schwartz, Joseph E.; Ryff, Carol D.; Weinstein, Maxine; Seeman, Teresa E.; Sloan, Richard P.

2012-01-01

141

Interval mapping of quantitative trait loci employing correlated trait complexes  

SciTech Connect

An approach to increase the resolution power of interval mapping of quantitative trait (QT) loci is proposed, based on analysis of correlated trait complexes. For a given set of QTs, the broad sense heritablity attributed to a QT locus (QTL) (say, A/a) is an increasing function of the number of traits. Thus, for some traits x and y are correlated within the groups AA, Aa and aa due to nongenetic factors and segregation of genes from other chromosomes. A simple relationship connects H{sup 2} (both in single trait and two-trait analysis) with the expected LOD value, ELOD = -1/2Nlog(1-H{sup 2}). Thus, situations could exist that from the inequality H{sup 2}{sub xy}(A/a) {ge} H{sup 2}{sub x} (A/a) a higher resolution is provided by the two-trait analysis, in spite of the increased number of parameters. Employing LOD-score procedure to simulated backcross data, we showed that the resolution power of the QTL mapping model can be elevated if correlation between QTs is taken into account. The method allows us to test numerous biologically important hypotheses concerning manifold effects of genomic segments on the defined trait complex (means, variances and correlations). 33 refs., 2 figs., 5 tabs.

Korol, A.B.; Ronin, Y,I.; Kirzhner, V.M. [Univ. of Haifa (Israel)

1995-07-01

142

Importation route of the sickle cell trait into Portugal: contribution of molecular epidemiology.  

PubMed

To elucidate the origin and spread of the sickle cell trait into the Portuguese population, we examined nine polymorphic DNA markers within the beta globin gene cluster defining the haplotype. The population sample included 64 sickle-cell-gene-bearing individuals from defined Portuguese-speaking white, black, and Asian Indian populations. The nature and geographic distribution of the different beta S haplotypes in Portugal suggest that the sickle cell trait has been imported twice: between the eighth and the thirteenth centuries from the Mediterranean basin (in association with the Benin haplotype) and after the fifteenth century from black Africa over an Atlantic route (Senegal and Bantu haplotypes). PMID:1427745

Lavinha, J; Gonçalves, J; Faustino, P; Romão, L; Osório-Almeida, L; Peres, M J; Picanço, I; Martins, M C; Ducrocq, R; Labie, D

1992-12-01

143

Traits, states, situations, and uncertainty  

Microsoft Academic Search

The shift of paradigm from psychodynamic therapy to behavior modification has changed the views of assessment and challenged traditional broad trait concepts. Behavioral assessment has used narrow, situation-specific trait tests, state self-report tests given in situations, and behavioral observations and performance ratings. Comparison of these types of measures are reported from a study of fear reactions in three situations. Narrow

Marvin Zuckerman

1979-01-01

144

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

145

Quantitative trait loci for fertility traits in Finnish Ayrshire cattle.  

PubMed

A whole genome scan was carried out to detect quantitative trait loci (QTL) for fertility traits in Finnish Ayrshire cattle. The mapping population consisted of 12 bulls and 493 sons. Estimated breeding values for days open, fertility treatments, maternal calf mortality and paternal non-return rate were used as phenotypic data. In a granddaughter design, 171 markers were typed on all 29 bovine autosomes. Associations between markers and traits were analysed by multiple marker regression. Multi-trait analyses were carried out with a variance component based approach for the chromosomes and trait combinations, which were observed significant in the regression method. Twenty-two chromosome-wise significant QTL were detected. Several of the detected QTL areas were overlapping with milk production QTL previously identified in the same population. Multi-trait QTL analyses were carried out to test if these effects were due to a pleiotropic QTL affecting fertility and milk yield traits or to linked QTL causing the effects. This distinction could only be made with confidence on BTA1 where a QTL affecting milk yield is linked to a pleiotropic QTL affecting days open and fertility treatments. PMID:18298935

Schulman, Nina F; Sahana, Goutam; Lund, Mogens S; Viitala, Sirja M; Vilkki, Johanna H

2008-02-27

146

Quantitative trait loci for fertility traits in Finnish Ayrshire cattle  

PubMed Central

A whole genome scan was carried out to detect quantitative trait loci (QTL) for fertility traits in Finnish Ayrshire cattle. The mapping population consisted of 12 bulls and 493 sons. Estimated breeding values for days open, fertility treatments, maternal calf mortality and paternal non-return rate were used as phenotypic data. In a granddaughter design, 171 markers were typed on all 29 bovine autosomes. Associations between markers and traits were analysed by multiple marker regression. Multi-trait analyses were carried out with a variance component based approach for the chromosomes and trait combinations, which were observed significant in the regression method. Twenty-two chromosome-wise significant QTL were detected. Several of the detected QTL areas were overlapping with milk production QTL previously identified in the same population. Multi-trait QTL analyses were carried out to test if these effects were due to a pleiotropic QTL affecting fertility and milk yield traits or to linked QTL causing the effects. This distinction could only be made with confidence on BTA1 where a QTL affecting milk yield is linked to a pleiotropic QTL affecting days open and fertility treatments.

Schulman, Nina F; Sahana, Goutam; Lund, Mogens S; Viitala, Sirja M; Vilkki, Johanna H

2008-01-01

147

Hemoglobin D/beta-thalassemia and beta-thalassemia major in a Saudi family.  

PubMed

The present report describes the clinical, hematological and molecular characteristics in a family with unique interaction between 3 different mutations discovered during routine workup for bone marrow transplantation. In this report, complete hematological and molecular studies were performed for a large Saudi family. The family consisted of parents and 9 children, which revealed that the father is compound heterozygous for hemoglobin Hb D Punjab/beta-thalassemia, the mother is a carrier for beta-thalassemia and 3 of their children are transfusion dependent beta-thalassemia. Two of the children are compound heterozygous for Hb D Punjab/beta-thalassemia like the father but with different genotype. The other 2 children have Hb D Punjab traits while 2 other children have beta-thalassemia traits. Although, compound heterozygous for Hb D/beta-thalassemia has been well described in the literature, our report emphasizes the importance of careful analysis of the electrophoresis results and the usefulness of molecular studies in premarital screening and other screening hemoglobinopathy programs. PMID:15900384

Owaidah, Tarek M; Al-Saleh, Mahasen M; Al-Hellani, Ali M

2005-04-01

148

Molecular mechanisms of a novel ?-thalassaemia mutation due to the duplication of tetranucleotide 'AGCT' at the junction IVS-II/exon 3.  

PubMed

We report a new ?-thalassaemia allele detected in a young Italian woman, suffering with mild non-haemolytic anaemia (Hb?

Musollino, Gennaro; Mastrolonardo, Gabriella; Prezioso, Romeo; Pagano, Leonilde; Primignani, Paola; Carestia, Clementina; Lacerra, Giuseppina

2012-07-24

149

Double beta decay  

SciTech Connect

The subjects of the two-neutrino (2{nu}{beta}{beta}) and neutrinoless double beta (0{nu}{beta}{beta}) decays are introduced. The main theoretical and experimental issues related to the double beta decay are discussed. It is stressed that the study of the 0{nu}{beta}{beta} decay is the most important source of information about the Majorana nature of neutrinos. In addition, the 0{nu}{beta}{beta}-decay half-life can constrain the absolute neutrino mass-scale and the neutrino mass pattern. Morever, the Majorana CP-violating phases, which might be responsible for the matter asymmetry of the Universe, could be deduced from the measured 0{nu}{beta}{beta}-decay rate, once this process will be observed. One can conclude that the double beta decay is an important process for the fields of nuclear physics, particle physics, astrophysics and cosmology.

Stekl, Ivan [Institute of Experimental and Applied Physics, CTU in Prague, Horska 3a, 128 00 Prague 2 (Czech Republic)

2007-11-26

150

Detection of Quantitative Trait Loci Associated with Several Internal Organ Traits and Teat Number Trait in a Pig Population  

Microsoft Academic Search

Quantitative trait loci (QTL) were detected for 8 internal organ traits, 3 carcass length traits, and teat number trait in 214 pigs in a resource population that included 180 F2 individuals. A total of 39 microsatellite markers were examined on SSC4, SSC6, SSC7, SSC8, and SSC13. The genetic traits included heart weight (HW), lung weight (LW), liver and gallbladder weight

Jinghu Zhang; Yuanzhu Xiong; Bo Zuo; Minggang Lei; Siwen Jiang; Feng'e Li; Rong Zheng; Jialian Li; Dequan Xu

2007-01-01

151

Inheritance and Natural Selection on Functional Traits  

Microsoft Academic Search

We surveyed the literature published since 1985 for evidence of natural selection and heritability in vegetative functional traits and performance. Our goals were to (1) review patterns of selection on specific functional traits and (2) assess general evolutionary questions about selection and heritability for broad classes of traits. While generalizations about the functional significance of specific traits are premature, several

Monica A. Geber; Lauren R. Griffen

2003-01-01

152

Mapping and Investigation of Two Novel Candidate Genes for Growth and Meat Quality traits in the Pig  

Microsoft Academic Search

Two new candidate genes for growth and meat quality traits were studied. The porcine beta-tropomyosin (TPM2) and the agouti-related protein (AGRP) genes were chosen based on their presumed role in growth and meat quality traits. These genes were genetically mapped and were linked to several markers on porcine chromosomes (SSC) 1 and 6, respectively. Both genes also were physically mapped

K.-S. Kim; J. Sherwood; D. Ciobanu; Y. Zhang; M. F. Rothschild

2000-01-01

153

Estimation in Latent Trait Models.  

ERIC Educational Resources Information Center

|Estimation of ability and item parameters in latent trait models is discussed. When both ability and item parameters are considered fixed but unknown, the method of maximum likelihood for the logistic or probit models is well known. Discussed are techniques for estimating ability and item parameters when the ability parameters or item parameters…

Rigdon, Steven E.; Tsutakawa, Robert K.

154

Hematuria in Sickle Cell Trait.  

National Technical Information Service (NTIS)

Hematuria in patients with sickle cell trait might be related to sickling in the medullary vessels of the kidney. In vitro, hypertonicity, acidity, and anoxia may cause, sickling. These conditions may also exist in the renal medulla of man. In two patient...

J. P. Knochel

1968-01-01

155

Hunt for the Hidden Trait  

PubMed Central

Objective: To assess the efficacy of a peripheral smear examination as a screening tool for ?-thalassemia trait. Materials and Methods: 17 623 Leishman-stained peripheral smears were evaluated during the period from July 2006 to September 2007. The following parameters were studied: hemoglobin, red blood cell count, mean corpuscular volume, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration and red cell distribution width. All the cases that showed microcytosis, hypochromia, erythrocytosis and absence of anisopoikilocytosis were suspected of having the thalassemia trait (TT), and all these cases were further evaluated with Alkaline Hemoglobin Electrophoresis for confirmation. Results: Of the 17 623 smears examined, 60 cases were considered suspicious of having TT. Alkaline hemoglobin electrophoresis carried out on all these cases revealed an elevated HbA2 (Mean = 7.5%). Five cases evaluated were found to have other hemoglobinopathies (1 Sickle cell trait, 3 Hb-E, 1 thalassemia intermedia). Conclusion: Careful screening of peripheral smear is an invaluable screening tool for thalassemia trait (PPV - 95%). There must be awareness among the peripheral centers about the importance of peripheral smear screening and the affected persons should be counseled.

Alwar, Vanamala; Kavdia, Reeti; Singh, Nandini; Rameshkumar, Karuna

2009-01-01

156

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

157

Multiple-Interval Mapping for Quantitative Trait Loci Controlling Endosperm Traits  

Microsoft Academic Search

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

Chen-Hung Kao

2004-01-01

158

Quantitative trait loci for flowering time and morphological traits in multiple populations of Brassica rapa  

Microsoft Academic Search

Wide variation for morphological traits exists in Bras- sica rapa and the genetic basis of this morphological variation is largely unknown. Here is a report on quantitative trait loci (QTL) analysis of flowering time, seed and pod traits, growth-related traits, leaf morphol- ogy, and turnip formation in B. rapa using multiple populations. The populations resulted from crosses between the following

Ping Lou; Jung Sun Kim; Shuxing Shen; Dunia Pino Del Carpio; Xiaofei Song; Mina Jin; Dick Vreugdenhil; Xiaowu Wang; Maarten Koornneef; Guusje Bonnema

2010-01-01

159

Quantitative trait loci for flowering time and morphological traits in multiple populations of Brassica rapa  

Microsoft Academic Search

Wide variation for morphological traits exists in Brassica rapa and the genetic basis of this morphological variation is largely unknown. Here is a report on quantitative trait loci (QTL) analysis of flowering time, seed and pod traits, growth-related traits, leaf morphology, and turnip formation in B. rapa using multiple populations. The populations resulted from crosses between the following accessions: Rapid

P. Lou; Jianjun Zhao; J. S. Kim; Shuxing Shen; D. Pino del Carpio; Xiaofei Song; M. Jin; D. Vreugdenhil; Xiaowu Wang; M. Koornneef; A. B. Bonnema

2007-01-01

160

Trait Aggressiveness and Situational Provocation: A Test of the Traits as Situational Sensitivities (TASS) Model  

Microsoft Academic Search

In this article, the authors propose and test an interactionist model of personality functioning. The model maintains that many traits function in a threshold-like manner, such that less situational strength is needed to evoke a trait-relevant response in people who are high on the trait than in those who are low on the trait. Because of these different sensitivities, people

Margaret A. Marshall; Jonathon D. Brown

2006-01-01

161

QUANTITATIVE TRAIT LOCUS ANALYSIS AND METABOLIC PATHWAYS  

Technology Transfer Automated Retrieval System (TEKTRAN)

The development of molecular markers for crop plants has enabled research on the genetic basis of quantitative traits. However, despite more than a decade of these studies, called quantitative trait locus (QTL) analyses, the molecular basis for variation in most agronomic traits is still largely unk...

162

QTL affecting conformation traits in Angora goats  

Microsoft Academic Search

A genomic screen for quantitative trait loci (QTL) affecting conformation traits was performed by genotyping 288 Angora goats offspring from 8 half-sub families with 76 microsatellite markers. The following traits were recorded: weaning weight (WW, Kg); stature (S, cm); chest depth (CD, cm); shoulder width (SW, cm); rump length (RL, cm); rump width (RW, cm); head length (HL, cm); head

G. Marrube; E. M. Cano; D. L. Roldan; F. Bidinost; M. Abad; D. Allain; D. Vaiman; H. Taddeo; M. A. Poli

2006-01-01

163

Let the concept of trait be functional!  

Microsoft Academic Search

In its simplest definition, a trait is a surrogate of organismal performance, and this meaning of the term has been used by evolutionists for a long time. Over the last three decades, developments in community and ecosystem ecology have forced the concept of trait beyond these original boundaries, and trait-based approaches are now widely used in studies ranging from the

Cyrille Violle; Marie-Laure Navas; Denis Vile; Elena Kazakou; Claire Fortunel; Irène Hummel; Eric Garnier

2007-01-01

164

Quantitative trait linkage studies of diabetes-related traits  

Microsoft Academic Search

Genetic linkage methods for diseases with complex inheritance are based on assessment of allele sharing between affected relative\\u000a pairs, but such methods have low power to detect genes with moderate effects. This may explain the difficulty in replication\\u000a for many of the putative loci for type 2 diabetes. To enhance power to detect diabetes-susceptibility genes, some investigators\\u000a have performed quantitative-trait

Robert L. Hanson; William C. Knowler

2003-01-01

165

Breeding for Grain Quality Traits  

Microsoft Academic Search

Breeding for complex multigenic phenotypic quality characters in cereals by chemical analyses and functional pilot tests is\\u000a traditionally a slow and expensive process. The development of new instrumental screening methods for complex quality traits\\u000a evaluated by multivariate data analysis has during the last decades revolutionised the economy and scale in breeding for quality.\\u000a The traditional explorative plant breeding view is

Lars Munck

166

Beta Thalassemia (For Parents)  

MedlinePLUS

Thalassemias Thalassemias are a group of blood disorders that affect the way the body makes hemoglobin, a ... results in that type of thalassemia. About Beta Thalassemia Beta thalassemia occurs when the gene that controls ...

167

A beta-thalassemia lesion abolishes the same Mst II site as the sickle mutation.  

PubMed Central

Digestion of DNA from a patient with homozygous beta zero thalassemia from Calabria, Italy with the restriction endonuclease Mst II produced a pattern similar to the one obtained with sickle cell trait DNA in that the Mst II site at the beta 6 position on one chromosome was abolished. We cloned the DNA from this beta-thalassemia chromosome and performed sequence analysis. The deletion of a single nucleotide (A) at the GAG codon of the beta 6 position results in a frame shift and early beta-globin chain termination. This mutation occurs on a chromosome with a haplotype similar to two other Mediterranean beta-thalassemia lesions. The Mst II enzyme is useful for prenatal diagnosis of beta thalassemia in this population. Images

Chang, J C; Alberti, A; Kan, Y W

1983-01-01

168

beta+-Thalassemia intermedia with low HbF.  

PubMed

Two cases of homozygous beta+-thalassemia intermedia have been detected in a Brazilian family of Portuguese and German extraction. The patients are 39 and 43 years old, showed a normal somatic and sexual development and had been transfused only occasionally. Red blood cell morphology was similar to that of thalassemia major, but they had unusually low levels of HbF (5.0% and 6.8%). Globin chain synthesis measured in reticulocytes was in the same range as other beta-thalassemia homozygotes. One or both genes in this family must be a particularly mild beta-thalassemia allele, despite the fact that the heterozygote members of the family presented clinical, hematological, and biochemical features indistinguishable from the typical heterozygotes for the beta-thalassemia trait with high HbA2. PMID:6188877

Zago, M A; Costa, F F; Bottura, C

1983-01-17

169

Biological and ecological traits of Trichoptera: the influence of phylogeny on life history and behavioral traits  

NASA Astrophysics Data System (ADS)

Biological and ecological traits of fauna have the potential to indicate changes in community structure that relate to function as an alternative to using traditional taxonomic descriptors. However, traits may be inherited, and consequently, not all species traits are independent of phylogeny. When used in analyses of community structure, results based on traits may be difficult to interpret; suites of traits may respond together even if only one trait is responding to changes in the habitat. To determine the relationship between traits and phylogeny, we examined life history and behavioral traits for the extant 45 families of Trichoptera. Traits such as larval size, respiratory strategies, case or net materials, locomotion, food and functional feeding group, voltanism, diapause, habitat, and reproduction were collected from published life histories. Traits were then coded and mapped onto the phylogeny of Trichoptera to determine the correlations between traits, as well as correlations directly influenced by the phylogeny. Traits such as functional feeding group, reproductive strategies, and building materials were correlated with phylogeny, while traits such as locomotion and habitat type were less influenced by phylogeny. Consideration of macroinvertebrate phylogenies when selecting biological and ecological traits may be essential for accurate interpretation of community function.

Mendez, P. K.; Resh, V. H.

2005-05-01

170

Hemoglobinopathies in the Hamilton region. II. Thalassemia traits and iron therapy.  

PubMed Central

Between July 1973 and July 1974 all adult patients with hypochromic anemia and a mean corpuscular volume of 75 mum3 or less were screened for hemoglobinopathies. Of the 490 patients 105 had beta-thalassemia trait, 11 had alpha1-thalassemia trait, 4 had hemoglobin Lepore trait and 1 had hemoglobin H disease. Of 48 inpatients whose charts were reviewed 19 had been on oral iron therapy and 7 of them had been given iron intramuscularly. Of 27 outpatients interviewed 10 had been on intermittent iron therapy for 18 months or more; 4 had been given at least 1 g of intramuscular iron. Iron deficiency was not documented in any of these patients. Iron deficiency should be diagnosed by means other than the presence of a hypochromic picture in the peripheral blood before iron therapy is instituted, particularly in communities with a large population of Mediterranean or South-East Asian origin.

Ali, M. A.

1975-01-01

171

Multiple trait genetic evaluation of ewe traits in Icelandic sheep.  

PubMed

The prolificacy of the ewes was measured as the number of lambs born per ewe mated (NLB) when the ewes were 1-4 years of age. The ewe productivity related to the same age interval was measured by special ewe production indices (EPI). The genetic parameters for these traits were estimated by a series of bivariate REML analyses using animal models. The material used for the genetic analysis contained records on 193,213 ewes. The heritability estimates for NLB were h(2) = 0.17, 0.13, 0.11, 0.10 for the four respective age classes. Corresponding estimates for EPI were h(2) = 0.16, 0.17, 0.17, 0.15. The genetic correlations among NLB at different ages ranged from 0.63 to 0.98 and among EPI from 0.82 to 0.99. The genetic correlations between NLB and EPI were generally low. The material used for estimating the breeding values by the MT-BLUP Animal Model consisted of 1.5 million individuals in the pedigree file. In total 815,782 ewes had records for the NLB and 763,491 ewes had production index (at least 1 year). The records were registered in the years 1990-2006. All possible missing patterns were present in the data. In the iteration process expected values for missing traits were generated and solutions were obtained on canonical transformed scale. The genetic evaluations were run independently for NLB and EPI for computational convenience given the correlations between these traits were negligible. PMID:19134074

Arnason, T; Jónmundsson, J V

2008-12-01

172

The biogeography of marine plankton traits.  

PubMed

Changes in marine plankton communities driven by environmental variability impact the marine food web and global biogeochemical cycles of carbon and other elements. To predict and assess these community shifts and their consequences, ecologists are increasingly investigating how the functional traits of plankton determine their relative fitness along environmental and biological gradients. Laboratory, field and modelling studies are adopting this trait-based approach to map the biogeography of plankton traits that underlies variations in plankton communities. Here, we review progress towards understanding the regulatory roles of several key plankton functional traits, including cell size, N2 -fixation and mixotrophy among phytoplankton, and body size, ontogeny and feeding behaviour for zooplankton. The trait biogeographical approach sheds light on what structures plankton communities in the current ocean, as well as under climate change scenarios, and also allows for finer resolution of community function because community trait composition determines the rates of significant processes, including carbon export. Although understanding of trait biogeography is growing, uncertainties remain that stem, in part, from the paucity of observations describing plankton functional traits. Thus, in addition to recommending widespread adoption of the trait-based approach, we advocate for enhanced collection, standardisation and dissemination of plankton functional trait data. PMID:23360597

Barton, Andrew D; Pershing, Andrew J; Litchman, Elena; Record, Nicholas R; Edwards, Kyle F; Finkel, Zoe V; Kiørboe, Thomas; Ward, Ben A

2013-01-30

173

Application of a multiple-trait, multiple-country genetic evaluation model for female fertility traits.  

PubMed

The need to implement a method that can handle multiple traits per country in international genetic evaluations is evident. Today, many countries have implemented multiple-trait national genetic evaluations and they may expect to have their traits simultaneously analyzed in international genetic evaluations. Traits from the same country are residually correlated and the method currently in use, single-trait multiple across-country evaluation (ST-MACE), cannot handle nonzero residual correlations. Therefore, multiple-trait, multiple across-country evaluation (MT-MACE) was proposed to handle several traits from the same country simultaneously. To test the robustness of MT-MACE on real data, female fertility was chosen as a complex trait with low heritability. Data from 7 Holstein populations, 3 with 2 traits and 4 with 1 trait, were used. The differences in the estimated genetic correlations by MT-MACE and the single ST-MACE analysis (average absolute deviation of 0.064) were due to the bias of considering several traits from the same country in the ST-MACE analysis. However, the differences between the estimated genetic correlations by MT-MACE and multiple ST-MACE analyses avoiding more than one trait per country in each analysis (average absolute deviation of 0.066) were due to the lack of analysis of the correlated traits from the same country together and using the reported within-country genetic correlations. Applying MT-MACE resulted in reliability gain in international genetic evaluations, which was different from trait to trait and from bull to bull. The average reliability gain by MT-MACE over ST-MACE was 3.0 points for domestic bulls and 6.3 points for foreign bulls. Even countries with 1 trait benefited from the joint analysis of traits from the 2-trait countries. Another superiority of MT-MACE over ST-MACE is that the bulls that do not have national genetic evaluation for some traits from multiple trait countries will receive international genetic evaluations for those traits. Rank correlations were high between ST-MACE and MT-MACE when considering all bulls. However, the situation was different for the top 100 bulls. Simultaneous analysis of traits from the same country affected bull ranks, especially for top 100 bulls. Multi-trait MACE is a recommendable and robust method for international genetic evaluations and is appropriate for handling multiple traits per country, which can increase the reliability of international genetic evaluations. PMID:21094772

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

2010-12-01

174

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

175

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

PubMed

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 the 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. PMID:24035389

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

2013-09-12

176

POST-HARVEST STORAGE TRAITS.  

Technology Transfer Automated Retrieval System (TEKTRAN)

After harvest, most of the sugarbeet (Beta vulgaris L.) crop is stored in exposed piles for up to 200 days awaiting processing. During this time respiration, rot, accumulation of impurities, and physical deterioration decrease extractable sucrose. Differences in storage respiration rates have been...

177

Valence Effects in Reasoning About Evaluative Traits.  

PubMed

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. PMID:20953297

Heyman, Gail D; Giles, Jessica W

2004-01-01

178

Selection explanations of token traits.  

PubMed

The "negative view" is the claim that natural selection cannot explain why a particular individual has one trait, rather than another. Here, I modify an example from Lewens (2001) to show that this claim is sometimes false. I then advance a variation on the negative view. It is the claim that selection at the organism level within a lineage cannot explain why a particular individual in that lineage has one allele, rather than another. This formulation better describes the explanatory role of selection. PMID:23721614

McLoone, Brian

2013-05-27

179

Sex trait stereotypes in Malaysian children  

Microsoft Academic Search

To examine the development of sex trait stereotypes in Malaysia, 40 5-year-old and 40 8-year-old children were tested with the Sex Stereotype Measurement II. Data were subjected to an item-level analysis, a 2×2×2 mixed design analysis of variance, and cross-cultural comparisons. Results revealed that (1) stereotyping increases with age (p?.005), (2) male traits are identified more correctly than female traits

Colleen Ward

1985-01-01

180

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

181

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

182

Expression quantitative trait loci analysis of two genes encoding rubisco activase in soybean.  

PubMed

Rubisco activase (RCA) catalyzes the activation of Rubisco in vivo and plays a crucial role in photosynthesis. However, until now, little was known about the molecular genetics of RCA in soybean (Glycine max), one of the most important legume crops. Here, we cloned and characterized two genes encoding the longer alpha -isoform and the shorter beta -isoform of soybean RCA (GmRCA alpha and GmRCA beta, respectively). The two corresponding cDNAs are divergent in both the translated and 3 ' untranslated regions. Analysis of genomic DNA sequences suggested that the corresponding mRNAs are transcripts of two different genes and not the products of a single alternatively splicing pre-mRNA. Two additional possible alpha -form RCA-encoding genes, GmRCA03 and GmRCA14, and one additional beta -form RCA-encoding gene, GmRCA11, were also isolated. To examine the function and modulation of RCA genes in soybean, we determined the expression levels of GmRCA alpha and GmRCA beta, Rubisco initial activity, photosynthetic rate, and seed yield in 184 soybean recombinant inbred lines. Correlation of gene expression levels with three other traits indicates that RCA genes could play an important role in regulating soybean photosynthetic capacity and seed yield. Expression quantitative trait loci mapping revealed four trans-expression quantitative trait loci for GmRCA alpha and GmRCA beta. These results could provide a new approach for the modulation of RCA genes to improve photosynthetic rate and plant growth in soybean and other plants. PMID:20032079

Yin, Zhitong; Meng, Fanfan; Song, Haina; Wang, Xiaolin; Xu, Xiaoming; Yu, Deyue

2009-12-23

183

Functional significance of repressor element 1 silencing transcription factor (REST) target genes in pancreatic beta cells  

Microsoft Academic Search

Aims\\/hypothesis  The expression of several neuronal genes in pancreatic beta cells is due to the absence of the transcription factor repressor\\u000a element 1 (RE-1) silencing transcription factor (REST). The identification of these traits and their functional significance\\u000a in beta cells has only been partly elucidated. Herein, we investigated the biological consequences of a repression of REST\\u000a target genes by expressing REST

D. Martin; F. Allagnat; G. Chaffard; D. Caille; M. Fukuda; R. Regazzi; A. Abderrahmani; G. Waeber; P. Meda; P. Maechler; J.-A. Haefliger

2008-01-01

184

Character traits of malodor patients.  

PubMed

Many patients visit oral malodor clinics because of malodors which are brought to their attention by friends and family, or because they note the behavior of people around them, they suspect a problem and develop a fear of having an oral malodor. However, only around 30% of such patients actually have levels of malodor high enough to bother other people. Many patients exhibit halitophobia symptoms, which present as self-perception of malodor, and thus have a strong obsession about their smell which results in distress. Here, we carried out a study on 300 outpatients who visited the Tokyo Dental College Chiba Hospital Odor Clinic. We used the Tokyo University Egogram (TEG) to elucidate character traits of affected outpatients and compared the occurrence of TEG types in these patients with those of normal individuals. We discovered that 10.4% of patients were A-dominant type, which was 10.6% lower than the 21.0% of normal individuals. On the other hand, 18.4% of patients were N-type (NP high, FC low), which was 9.9% higher than the 8.5% of normal individuals. Results revealed that very few of the malodor outpatients exhibited the trait that shows intelligence, calm judgment, and self-affirmation, and as a result enjoy their life. Instead, many of these patients tended to show high levels of kindness and appeared to be holding themselves back and exercising patience. PMID:21986393

Sugiyama, Toshiko; Kameyama, Atsushi; Yamakura, Daiki; Morinaga, Kazuki; Tsunoda, Masatake

2011-01-01

185

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

186

The State--Trait Anxiety Inventory, Trait version: structure and content re-examined  

Microsoft Academic Search

Although the State–Trait Anxiety Inventory (STAI) is a popular measure of anxiety, some previous research suggests that the trait scale may assess depression, as well as anxiety. The factor structure of the trait items was initially examined using factor analytic procedures. Confirmatory factor analytic methods suggested that a hierarchical solution best fit the data, with one overall factor and two

Peter J Bieling; Martin M Antony; Richard P Swinson

1998-01-01

187

Quantitative trait loci analysis of phenotypic traits and principal components of maize tassel inflorescence architecture  

Microsoft Academic Search

Maize tassel inflorescence architecture is relevant to efficient production of F1 seed and yield performance of F1 hybrids. The objectives of this study were to identify genetic relationships among seven measured tassel inflorescence architecture traits and six calculated traits in a maize backcross population derived from two lines with differing tassel architectures, and identify Quantitative Trait Loci (QTL) involved in

N. Upadyayula; J. Wassom; M. O. Bohn; T. R. Rocheford

2006-01-01

188

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

189

Biomonitoring through biological traits of benthic macroinvertebrates: how to use species trait databases?  

Microsoft Academic Search

The aim of this paper was to investigate the potential use of biological and ecological traits of macroinvertebrates as indicator systems of quality conditions in freshwater ecosystems. To provide a framework for the trait analysis, a data base was developed; it stored biological information about 472 benthic macroinvertebrate taxa. Twenty-two variables describing biological and ecological traits were resolved into a

Philippe Usseglio-Polatera; Michel Bournaud; Philippe Richoux; Henri Tachet

2000-01-01

190

Influencing Agent Group Behavior by Adjusting Cultural Trait Values  

Microsoft Academic Search

Social reasoning and norms among individuals that share cultural traits are largely fashioned by those traits. We have explored predominant sociological and cultural traits. We offer a methodology for parametrically adjusting relevant traits. This exploratory study heralds a capability to deliberately tune cultural group traits in order to produce a desired group behavior. To validate our methodology, we implemented a

Gaurav Tuli; Henry Hexmoor

2010-01-01

191

Mapping of Quantitative Trait Loci Controlling Adaptive Traits in Coastal Douglas Fir. III. Quantitative Trait Loci-by-Environment Interactions  

Microsoft Academic Search

Quantitative trait loci (QTL) were mapped in the woody perennial Douglas fir (Pseudotsuga menziesii var. menziesii (Mirb.) Franco) for complex traits controlling the timing of growth initiation and growth cessation. QTL were estimated under controlled environmental conditions to identify QTL interactions with photoperiod, moisture stress, winter chilling, and spring temperatures. A three-generation mapping population of 460 cloned progeny was used

Kathleen D. Jermstad; Daniel L. Bassoni; Keith S. Jech; Gary A. Ritchie; Nicholas C. Wheeler; David B. Neale

192

New technologies for integrating genomic, environmental and trait data.  

PubMed

Rare diseases, which (by definition) occur at a frequency less than 1/2000 per allele - are individually rare, yet common collectively (10% affected and 50% carrier rates). There are 1800 genes which have tests considered highly predictive and actionable. Human genes with known variants causing insomnia, narcolepsy, and circadian variation include Prion Protein Fatal Familial Insomnia (PRNP), hypocretin (HCRT), DQ beta 1 (DQB1), and period circadian protein homolog (PER2). We have developed human genome sequencing technology that lowered costs a million-fold over the past 6 yr. This has increasingly enabled the use of the causative alleles above, which are far more valuable than merely correlated or common variants. To expand this further we have established community resources for open access collection, integration and interpretation of diverse personal genomic, environmental and trait data evidence.personalgenomes.org). PMID:22003332

Church, George M

2011-10-15

193

Genetic evaluation of fertility traits of dairy cattle using a multiple-trait animal model.  

PubMed

A genetic evaluation system was developed for 5 fertility traits of dairy cattle: interval from first to successful insemination and nonreturn rate to 56 d of heifers, and interval from calving to first insemination, nonreturn rate to 56 d, and interval first to successful insemination of cows. Using the 2 interval traits of cows as components, breeding values for days open were derived. A multiple-trait animal model was applied to evaluate these fertility traits. Fertility traits of later lactations of cows were treated as repeated measurements. Genetic parameters were estimated by REML. Mixed model equations of the genetic evaluation model were solved with preconditioned conjugate gradients or the Gauss-Seidel algorithm and iteration on data techniques. Reliabilities of estimated breeding values were approximated with a multi-trait effective daughter contribution method. Daughter yield deviations and associated effective daughter contributions were calculated with a multiple trait approach. The genetic evaluation software was applied to the insemination data of dairy cattle breeds in Germany, Austria, and Luxembourg, and it was validated with various statistical methods. Genetic trends were validated. Small heritability estimates were obtained for all the fertility traits, ranging from 1% for nonreturn rate of heifers to 4% for interval calving to first insemination. Genetic and environmental correlations were low to moderate among the traits. Notably, unfavorable genetic trends were obtained in all the fertility traits. Moderate to high correlations were found between daughter yield-deviations and estimated breeding values (EBV) for Holstein bulls. Because of much lower heritabilities of the fertility traits, the correlations of daughter yield deviations with EBV were significantly lower than those from production traits and lower than the correlations from type traits and longevity. Fertility EBV were correlated unfavorably with EBV of milk production traits but favorably with udder health and longevity. Integrating fertility traits into a total merit selection index can halt or reverse the decline of fertility and improve the longevity of dairy cattle. PMID:18946139

Liu, Z; Jaitner, J; Reinhardt, F; Pasman, E; Rensing, S; Reents, R

2008-11-01

194

[Epidemiology of genetic hemoglobin diseases in metropolitan France].  

PubMed

The number of subjects with heterozygous beta-thalassaemia and sickle-cell anaemia in metropolitan France can be evaluated by the distribution of populations originating from countries with a high prevalence of genetic haemoglobinopathies. Taking into account the movements of these populations observed since the 1982 census, the current prevalences of beta-thalassaemic and drepanocytic traits are higher than the figures of 180,000 and 130,000 respectively found at that date. On the other hand, it appears from episodic screenings performed during the last few years that the percentage of subjects with heterozygous beta-thalassaemia is 3.09% in Corsica, 0.77% in school-age population in the Marseille area, and 0.72% in the general population of Marseille, Toulon and Nice. In 1992, the number of patients with heterozygous beta-thalassaemia and with major sickle-cell syndrome is estimated at 250-350 and 1000-3000 respectively. Patients with sickle-cell anemia predominate in the Paris area, whereas those with heterozygous beta-thalassemia predominate in the provinces, notably in the Provence-Côte d'Azur and Corsica regions. PMID:1485078

Lena-Russo, D; North, M L; Girot, R

1992-10-01

195

TRY - a global database of plant traits  

Microsoft Academic Search

Plant traits – the morphological, anatomical, physiological, biochemical and phenological characteristics of plants and their organs – determine how primary producers respond to environmental factors, affect other trophic levels, influence ecosystem processes and services and provide a link from species richness to ecosystem functional diversity. Trait data thus represent the raw material for a wide range of research from evolutionary

J. Kattge; S. Diaz; S. Lavorel; I. C. Prentices; P. Leadley; G. Bönisch; E. Garnier; M. Westobys; P. B. Reich; I. J. Wrights; C. Cornelissen; C. Violle; S. P. Harisson; Bodegom van P. M; M. Reichstein; B. J. Enquist; N. A. Soudzilovskaia; D. D. Ackerly; M. Anand; O. Atkin; M. Bahn; T. R. Baker; D. Baldochi; R. Bekker; C. C. Blanco; B. Blonders; W. J. Bond; R. Bradstock; D. E. Bunker; F. Casanoves; J. Cavender-Bares; J. Q. Chambers; F. S. Chapin III; J. Chave; D. Coomes; W. K. Cornwell; J. M. Craine; B. H. Dobrin; L. Duarte; W. Durka; J. Elser; G. Esser; M. Estiarte; W. F. Fagan; J. Fang; F. Fernadez-Mendez; A. Fidelis; B. Finegan; O. Flores; H. Ford; D. Frank; T. Freschet; N. M. Fyllas; R. V. Gallagher; W. A. Green; A. G. Gutierrez; T. Hickler; S. I. Higgins; J. G. Hodgson; A. Jalili; S. Jansen; C. A. Joly; A. J. Kerkhoff; D. Kirkup; K. Kitajima; M. Kleyer; S. Klotz; J. M. H. Knops; K. Kramer; I. Kühn; H. Kurokawa; D. Laughlin; T. D. Lee; M. Leishman; F. Lens; S. L. Lewis; J. Lloyd; J. Llusia; F. Louault; S. Ma; M. D. Mahecha; P. Manning; T. Massad; B. E. Medlyn; J. Messier; A. T. Moles; S. C. Müller; K. Nadrowski; S. Naeem; Ü. Niinemets; S. Nöllert; A. Nüske; R. Ogaya; J. Oleksyn; V. G. Onipchenko; Y. Onoda; J. C. Ordonez Barragan; W. A. Ozinga; L. Poorter

2011-01-01

196

Traits of Persons Who Drink Decaffeinated Coffee  

Microsoft Academic Search

PURPOSE: Little is known about the traits of decaffeinated coffee drinkers, who are sometimes used to ascertain whether the health effects of coffee intake are due to caffeine or some other coffee ingredient.METHODS: We studied these traits in 12,467 persons who reported type of coffee consumed at health examinations; 36% drank caffeinated only, 13% drank decaffeinated only, 27% drank both

Ai Kubo Shlonsky; Arthur L Klatsky; Mary Anne Armstrong

2003-01-01

197

Codependency and gender-stereotyped traits  

Microsoft Academic Search

This study examined the relationship between gender, positive and negative gender stereotyped traits, and eight codependency scales among 339 female and 115 male college students. The majority (63%) of the participants were Caucasian. Based on a feminist critique, we expected that women would be more codependent than men, both positive and negative female-stereotyped traits would be associated with codependency, and

Gloria Cowan; Lynda W. Warren

1994-01-01

198

GENDER TRAITS AND NORMATIVE\\/HUMANISTIC BEHAVIOR  

Microsoft Academic Search

In this study I tried to discover if there is a relationship between conservative \\/humanistic behavior and gender identity traits. I also looked at the differences between male and female characteristics involving interpretation of gender based vocabulary and ideologies. To determine behavior and gender traits I used the Tomkins polarity scale and the Bem Sex Role Inventory respectively. I also

Alex Rice

2006-01-01

199

Inheritance of agriculturally important traits in mango  

Microsoft Academic Search

High heterozygosity on the one hand, and the inability to carry out successful hand pollinations on the other hand, have limited the amount of systematic work which has been done in mango breeding. In studying the inheritance of important horticultural traits we must first analyse the distribution of different traits in seedlings derived from open pollination. We studied correlations between

U. Lavi; E. Tomer; S. Gazit

1989-01-01

200

Traits, personal strivings and well-being  

Microsoft Academic Search

Traits and motivational units are two elements of widely acknowledged relevance in personality psychology. In fact, some multi-level models have stressed the differences between traits, which are the most generic and decontextualized units of analysis, and middle-level units, which are more closely related to motivational processes and more contextualized in time, space or specific roles. Personal strivings, which are defined

Estrella Romero; Paula Villar; M. Ángeles Luengo; José A. Gómez-Fraguela

2009-01-01

201

Hierarchical Latent Trait Approach in Test Analysis.  

ERIC Educational Resources Information Center

An approach is described that reveals the hierarchical test structure (HTS) based on the cognitive demands of the test items, and conducts a linear trait modeling by using the HST elements as item difficulty components. This approach, referred to as the Hierarchical Latent Trait Approach (HLTA), employs an algorithm that allows all test items to…

Dimitrov, Dimiter M.

202

Neurobiological trait abnormalities in bipolar disorder  

Microsoft Academic Search

Dissecting trait neurobiological abnormalities in bipolar disorder (BD) from those characterizing episodes of mood disturbance will help elucidate the aetiopathogenesis of the illness. This selective review highlights the immunological, neuroendocrinological, molecular biological and neuroimaging abnormalities characteristic of BD, with a focus on those likely to reflect trait abnormalities by virtue of their presence in euthymic patients or in unaffected relatives

C Langan; C McDonald

2009-01-01

203

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

204

Critical Personality Traits in Successful Pair Programming  

Microsoft Academic Search

Pair programming (PP) is a common practice in Extreme programming, in which two programmers work together using a single computer. The close interaction required by PP makes it difficult to apply. The hypothesis is that certain personality traits are crucial for the success of PP, and PP partners should be chosen based on these personality traits. In this research, we

Joseph Chao; Gulgunes Atli

2006-01-01

205

Physical mapping and cloning of a translocation in sugar beet ( Beta vulgaris L) carrying a gene for nematode ( Heterodera schachtii ) resistance from B. procumbens  

Microsoft Academic Search

Two diploid (2n=18) sugar beet (Beta vulgaris L.) lines which carry monogenic traits for nematode (Heterodera schachtii Schm.) resistance located on translocations from the wild beet species Beta procumbens were investigated. Short interspersed repetitive DNA elements exclusively hybridizing with wild beet DNA were found to be dispersed around the translocations. The banding pattern as revealed by genomic Southern hybridization was

M. Kleine; D. Cai; C. Elbl; R. G. Herrmann; C. Jung

1995-01-01

206

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

207

Bacteriocin Production: a Probiotic Trait?  

PubMed Central

Bacteriocins are an abundant and diverse group of ribosomally synthesized antimicrobial peptides produced by bacteria and archaea. Traditionally, bacteriocin production has been considered an important trait in the selection of probiotic strains, but until recently, few studies have definitively demonstrated the impact of bacteriocin production on the ability of a strain to compete within complex microbial communities and/or positively influence the health of the host. Although research in this area is still in its infancy, there is intriguing evidence to suggest that bacteriocins may function in a number of ways within the gastrointestinal tract. Bacteriocins may facilitate the introduction of a producer into an established niche, directly inhibit the invasion of competing strains or pathogens, or modulate the composition of the microbiota and influence the host immune system. Here we review the role of bacteriocin production in complex microbial communities and their potential to enhance human health.

Dobson, Alleson; Cotter, Paul D.; Hill, Colin

2012-01-01

208

Does fructan have a functional role in physiological traits? Investigation by quantitative trait locus mapping.  

PubMed

* The role of fructan in growth and drought-stress responses of perennial ryegrass (Lolium perenne) was investigated in an F(2) mapping family that segregates for carbohydrate metabolism. * A quantitative trait locus approach was used to compare the genetic control of traits. * Growth and drought-stress traits were extremely variable within the family. Most traits had high broad-sense heritability. Quantitative trait loci (QTL) were identified for most traits; the maximum number of QTL per trait was four. Between 11% and 75% of total phenotypic variation was explained. Few growth-trait QTL coincided with previously identified fructan QTL. A cluster of drought-trait QTL was close to two previously identified regions of the genome with tiller base fructan QTL in repulsion. * The high sugar parent contributed few alleles that increased 'reserve-driven' growth or performance during drought-stress. Correlation of growth and drought-stress traits with fructan content was low and increasing fructan content per se would not appear to improve drought resistance. Complex patterns of carbohydrate partitioning and metabolism within the cell may explain contradictory relationships between carbohydrate content and growth/stress-resistance traits. PMID:18507776

Turner, L B; Cairns, A J; Armstead, I P; Thomas, H; Humphreys, M W; Humphreys, M O

2008-05-27

209

Multiple trait multiple interval mapping of quantitative trait loci from inbred line crosses  

PubMed Central

Background Although many experiments have measurements on multiple traits, most studies performed the analysis of mapping of quantitative trait loci (QTL) for each trait separately using single trait analysis. Single trait analysis does not take advantage of possible genetic and environmental correlations between traits. In this paper, we propose a novel statistical method for multiple trait multiple interval mapping (MTMIM) of QTL for inbred line crosses. We also develop a novel score-based method for estimating genome-wide significance level of putative QTL effects suitable for the MTMIM model. The MTMIM method is implemented in the freely available and widely used Windows QTL Cartographer software. Results Throughout the paper, we provide compelling empirical evidences that: (1) the score-based threshold maintains proper type I error rate and tends to keep false discovery rate within an acceptable level; (2) the MTMIM method can deliver better parameter estimates and power than single trait multiple interval mapping method; (3) an analysis of Drosophila dataset illustrates how the MTMIM method can better extract information from datasets with measurements in multiple traits. Conclusions The MTMIM method represents a convenient statistical framework to test hypotheses of pleiotropic QTL versus closely linked nonpleiotropic QTL, QTL by environment interaction, and to estimate the total genotypic variance-covariance matrix between traits and to decompose it in terms of QTL-specific variance-covariance matrices, therefore, providing more details on the genetic architecture of complex traits.

2012-01-01

210

High Beta Tokamaks  

SciTech Connect

Perhaps the ideal tokamak would have high {beta} ({beta} {approx}> 1) and classical confinement. Such a tokamak has not been found, and we do not know if one does exist. We have searched for such a possibility, so far without success. In 1990, we obtained analytic equilibrium solutions for large aspect ratio tokamaks at {beta} {approx} {Omicron}(1) [1]. These solutions and the extension at high {beta} poloidal to finite aspect ratio [2] provided a basis for the study of high {beta} tokamaks. We have shown that these configurations can be stable to short scale MHD modes [3], and that they have reduced neoclassical transport [4]. Microinstabilities (such as the {del}T{sub i} mode) seem to be stabilized at high {beta} [5] - this is due to the large local shear [3] and the magnetic well. We have some concerns about modes associated with the compressional branch which may appear at high {beta}. Bill Dorland and Mike Kotschenreuther have studied this issue and our concerns may be unfounded. It is certainly tantalizing, especially given the lowered neoclassical transport values, that these configurations could have no microinstabilities and, one could assume, no anomalous transport. Unfortunately, while this work is encouraging, the key question for high {beta} tokamaks is the stability to large scale kink modes. The MHD {beta} limit (Troyon limit) for kink modes at large aspect ratio is problematically low. There is ample evidence from computations that the limit exists. However, it is not known if stable equilibria exist at much higher {beta}--none have been found. We have explored this question in the asymptotic high {beta} poloidal limit. Unfortunately, we are unable to find stable equilibrium and also unable to show that they don't exist. The results of these calculations will be published when a more definitive answer is found.

Cowley, S.

1998-11-14

211

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

212

Beta Regression in R  

Microsoft Academic Search

The class of beta regression models is commonly used by practitioners to model variables that assume values in the standard unit interval (0, 1). It is based on the assumption that the dependent variable is beta-distributed and that its mean is related to a set of regressors through a linear predictor with unknown coefficients and a link function. The model

Francisco Cribari-Neto; Achim Zeileis

2010-01-01

213

Neutrinoless double beta decay  

SciTech Connect

Present status of the search for 0{nu}{beta}{beta} decay and of the related theoretical questions is reviewed. The mechanism of the decay, and how to recognize it, is discussed first, followed by the relation of the effective neutrino Majorana mass and the oscillation parameters, and the problems of nuclear matrix elements. The planned {approx} 100 kg experiments are briefly described.

Vogel, Petr [Kellogg Radiation Lab. 106-38, Caltech, Pasadena, CA 91125 (United States)

2006-11-17

214

The beta Gumbel distribution  

Microsoft Academic Search

The Gumbel distribution is perhaps the most widely applied statistical distribution for problems in engineering. In this paper, we introduce a generalization—referred to as the beta Gumbel distribution—generated from the logit of a beta random variable. We pro- vide a comprehensive treatment of the mathematical properties of this new distribution. We derive the analytical shapes of the corresponding probability density

Saralees Nadarajah; Samuel Kotz

2004-01-01

215

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

216

Expression of transforming growth factors beta-1, beta 2 and beta 3 in human bladder carcinomas  

Microsoft Academic Search

We previously detected elevated transforming growth factor beta-1 (TGF-beta1) serum levels in patients with invasive bladder carcinomas. In this study, we therefore investigated whether elevated serum levels correlate with enhanced TGF-beta expression in human bladder tumours. mRNA levels of TGF-beta1, -beta2 and -beta3 were reduced in bladder tumour tissue to 86%, 68% and 56%, respectively, of the levels in normal

IE Eder; A Stenzl; A Hobisch; MV Cronauer; G Bartsch; H Klocker

1997-01-01

217

Quantitative trait loci for physical activity traits in mice.  

PubMed

The genomic locations and identities of the genes that regulate voluntary physical activity are presently unknown. The purpose of this study was to search for quantitative trait loci (QTL) that are linked with daily mouse running wheel distance, duration, and speed of exercise. F(2) animals (n = 310) derived from high active C57L/J and low active C3H/HeJ inbred strains were phenotyped for 21 days. After phenotyping, genotyping with a fully informative single-nucleotide polymorphism panel with an average intermarker interval of 13.7 cM was used. On all three activity indexes, sex and strain were significant factors, with the F(2) animals similar to the high active C57L/J mice in both daily exercise distance and duration of exercise. In the F(2) cohort, female mice ran significantly farther, longer, and faster than male mice. QTL analysis revealed no sex-specific QTL but at the 5% experimentwise significance level did identify one QTL for duration, one QTL for distance, and two QTL for speed. The QTL for duration (DUR13.1) and distance (DIST13.1) colocalized with the QTL for speed (SPD13.1). Each of these QTL accounted for approximately 6% of the phenotypic variance, whereas SPD9.1 (chromosome 9, 7 cM) accounted for 11.3% of the phenotypic variation. DUR13.1, DIST13.1, SPD13.1, and SPD9.1 were subsequently replicated by haplotype association mapping. The results of this study suggest a genetic basis of voluntary activity in mice and provide a foundation for future candidate gene studies. PMID:18171721

Lightfoot, J Timothy; Turner, Michael J; Pomp, Daniel; Kleeberger, Steven R; Leamy, Larry J

2008-01-02

218

Quantitative trait loci for physical activity traits in mice  

PubMed Central

The genomic locations and identities of the genes that regulate voluntary physical activity are presently unknown. The purpose of this study was to search for quantitative trait loci (QTL) that are linked with daily mouse running wheel distance, duration, and speed of exercise. F2 animals (n = 310) derived from high active C57L/J and low active C3H/HeJ inbred strains were phenotyped for 21 days. After phenotyping, genotyping with a fully informative single-nucleotide polymorphism panel with an average intermarker interval of 13.7 cM was used. On all three activity indexes, sex and strain were significant factors, with the F2 animals similar to the high active C57L/J mice in both daily exercise distance and duration of exercise. In the F2 cohort, female mice ran significantly farther, longer, and faster than male mice. QTL analysis revealed no sex-specific QTL but at the 5% experimentwise significance level did identify one QTL for duration, one QTL for distance, and two QTL for speed. The QTL for duration (DUR13.1) and distance (DIST13.1) colocalized with the QTL for speed (SPD13.1). Each of these QTL accounted for ?6% of the phenotypic variance, whereas SPD9.1 (chromosome 9, 7 cM) accounted for 11.3% of the phenotypic variation. DUR13.1, DIST13.1, SPD13.1, and SPD9.1 were subsequently replicated by haplotype association mapping. The results of this study suggest a genetic basis of voluntary activity in mice and provide a foundation for future candidate gene studies.

Lightfoot, J. Timothy; Turner, Michael J.; Pomp, Daniel; Kleeberger, Steven R.; Leamy, Larry J.

2009-01-01

219

Mapping quantitative trait loci controlling variation in forage quality traits in barley  

Microsoft Academic Search

Barley forage quality has a direct relationship to animal performance, but forage quality traits are often neglected or not\\u000a accessible to the plant breeders. Doubled haploid lines (145) from the cross Steptoe × Morex were grown in 2 years of trails\\u000a under irrigated conditions to evaluate the variation in forage quality characteristics, identify quantitative trait loci (QTL)\\u000a for these traits and determine if

Lisa Surber; Hussein Abdel-Haleem; Jack Martin; Pat Hensleigh; Dennis Cash; Jan Bowman; Tom Blake

2011-01-01

220

A Study of CNVs As Trait-Associated Polymorphisms and As Expression Quantitative Trait Loci  

Microsoft Academic Search

We conducted a comprehensive study of copy number variants (CNVs) well-tagged by SNPs (r2?0.8) by analyzing their effect on gene expression and their association with disease susceptibility and other complex human traits. We tested whether these CNVs were more likely to be functional than frequency-matched SNPs as trait-associated loci or as expression quantitative trait loci (eQTLs) influencing phenotype by altering

Eric R. Gamazon; Dan L. Nicolae; Nancy J. Cox

2011-01-01

221

Quantitative trait loci associated with seed and seedling traits in Lactuca  

Microsoft Academic Search

Seed and seedling traits related to germination and stand establishment are important in the production of cultivated lettuce\\u000a (Lactuca sativa L.). Six seed and seedling traits segregating in a L. sativa cv. Salinas x L. serriola recombinant inbred line population consisting of 103 F8 families revealed a total of 17 significant quantitative trait loci\\u000a (QTL) resulting from three seed production

Jason Argyris; María José Truco; Oswaldo Ochoa; Steven J. Knapp; David W. Still; Ger M. Lenssen; Johan W. Schut; Richard W. Michelmore; Kent J. Bradford

2005-01-01

222

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

223

Function-valued traits in evolution  

PubMed Central

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.

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

2013-01-01

224

Genetic Basis of Laterality, Reading, Mental Traits.  

National Technical Information Service (NTIS)

The genetic basis of laterality, reading, and mental traits were studied. The population of inquiry was the Hutterian Brethern of North America who constitute a literature, nonmobile group which does not practice birth control and has exhaustive geneologi...

D. Kolakowski

1982-01-01

225

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

226

Ionic and molecular transport in beta- and beta''-alumina  

SciTech Connect

Investigations of rapid transport of cations and water molecules in the ..beta..- and ..beta..''-alumina family of superionic conductors are reviewed. Particular topics that are discussed include the Haven ratio and mixed-ion effects in ..beta..-alumina, and the influence of superlattice ordering on ionic transport in ..beta..''-alumina.

Bates, J.B.

1984-03-01

227

Statistical methods for analysing complex genetic traits  

Microsoft Academic Search

Complex traits are caused by multiple genetic and environmental factors, and\\u000aare therefore difficult to study compared with simple Mendelian diseases. The\\u000amodes of inheritance of Mendelian diseases are often known. Methods to dissect\\u000asuch diseases are well described in literature. For complex genetic traits,\\u000athe inheritance pattern is not clear and difficult to understand, and genetic\\u000avariants contributing to

Rachid El Galta

2006-01-01

228

Personality traits and academic examination performance  

Microsoft Academic Search

British university students (N ¼247) completed the NEO-PI-R (Costa & McCrae, 1992) personality inventory at the beginning of their course and took several written examinations throughout their three-year degree. Personality super-traits (especially Conscientiousness positively, and Extraversion and Neuroticism negatively) were significantly correlated with examination grades and were found to account for around 15% of the variance. Primary traits were also

Tomas Chamorro-Premuzic; Adrian Furnham

2003-01-01

229

Traits Contributing to the Autistic Spectrum  

Microsoft Academic Search

BackgroundIt 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 FindingsNinety-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

Colin D. Steer; Jean Golding; Patrick F. Bolton; Zoltán Bochdanovits

2010-01-01

230

Automated beta Irradiator.  

National Technical Information Service (NTIS)

To support the continuing effort of the US Department of Energy to maintain high-quality radiological calibrations, the Pacific Northwest Laboratory fabricated an automated beta irradiation system. The system hardware includes a microprocessor that contro...

R. A. Fox J. A. Leonowich F. M. Cummings

1988-01-01

231

Mapping quantitative trait Loci underlying fitness-related traits in a free-living sheep population.  

PubMed

We searched for quantitative trait loci (QTL) underlying fitness-related traits in a free-living pedigree of 588 Soay sheep in which a genetic map using 251 markers with an average spacing of 15 cM had been established previously. Traits examined included birth date and weight, considered both as maternal and offspring traits, foreleg length, hindleg length, and body weight measured on animals in August and jaw length and metacarpal length measured on cleaned skeletal material. In some cases the data were split to consider different age classes separately, yielding a total of 15 traits studied. Genetic and environmental components of phenotypic variance were estimated for each trait and, for those traits showing nonzero heritability (N= 12), a QTL search was conducted by comparing a polygenic model with a model including a putative QTL. Support for a QTL at genome-wide significance was found on chromosome 11 for jaw length; suggestive QTL were found on chromosomes 2 and 5 (for birth date as a trait of the lamb), 8 (birth weight as a trait of the lamb), and 15 (adult hindleg length). We discuss the prospects for refining estimates of QTL position and effect size in the study population, and for QTL searches in free-living pedigrees in general. PMID:17542849

Beraldi, Dario; McRae, Allan F; Gratten, Jacob; Slate, Jon; Visscher, Peter M; Pemberton, Josephine M

2007-06-01

232

Quantitative trait loci for flowering time and morphological traits in multiple populations of Brassica rapa.  

PubMed

Wide variation for morphological traits exists in Brassica rapa and the genetic basis of this morphological variation is largely unknown. Here is a report on quantitative trait loci (QTL) analysis of flowering time, seed and pod traits, growth-related traits, leaf morphology, and turnip formation in B. rapa using multiple populations. The populations resulted from crosses between the following accessions: Rapid cycling, Chinese cabbage, Yellow sarson, Pak choi, and a Japanese vegetable turnip variety. A total of 27 QTL affecting 20 morphological traits were detected, including eight QTL for flowering time, six for seed traits, three for growth-related traits and 10 for leaf traits. One major QTL was found for turnip formation. Principal component analysis and co-localization of QTL indicated that some loci controlling leaf and seed-related traits and those for flowering time and turnip formation might be the same. The major flowering time QTL detected in all populations on linkage group R02 co-localized with BrFLC2. One major QTL, controlling turnip formation, was also mapped at this locus. The genes that may underly this QTL and comparative analyses between the four populations and with Arabidopsis thaliana are discussed. PMID:18048374

Lou, Ping; Zhao, Jianjun; Kim, Jung Sun; Shen, Shuxing; Del Carpio, Dunia Pino; Song, Xiaofei; Jin, Mina; Vreugdenhil, Dick; Wang, Xiaowu; Koornneef, Maarten; Bonnema, Guusje

2007-11-28

233

A non-human primate system for large-scale genetic studies of complex traits.  

PubMed

Non-human primates provide genetic model systems biologically intermediate between humans and other mammalian model organisms. Populations of Caribbean vervet monkeys (Chlorocebus aethiops sabaeus) are genetically homogeneous and large enough to permit well-powered genetic mapping studies of quantitative traits relevant to human health, including expression quantitative trait loci (eQTL). Previous transcriptome-wide investigation in an extended vervet pedigree identified 29 heritable transcripts for which levels of expression in peripheral blood correlate strongly with expression levels in the brain. Quantitative trait linkage analysis using 261 microsatellite markers identified significant (n = 8) and suggestive (n = 4) linkages for 12 of these transcripts, including both cis- and trans-eQTL. Seven transcripts, located on different chromosomes, showed maximum linkage to markers in a single region of vervet chromosome 9; this observation suggests the possibility of a master trans-regulator locus in this region. For one cis-eQTL (at B3GALTL, beta-1,3-glucosyltransferase), we conducted follow-up single nucleotide polymorphism genotyping and fine-scale association analysis in a sample of unrelated Caribbean vervets, localizing this eQTL to a region of <200 kb. These results suggest the value of pedigree and population samples of the Caribbean vervet for linkage and association mapping studies of quantitative traits. The imminent whole genome sequencing of many of these vervet samples will enhance the power of such investigations by providing a comprehensive catalog of genetic variation. PMID:22556363

Jasinska, Anna J; Lin, Michelle K; Service, Susan; Choi, Oi-Wa; DeYoung, Joseph; Grujic, Olivera; Kong, Sit-Yee; Jung, Yoon; Jorgensen, Mathew J; Fairbanks, Lynn A; Turner, Trudy; Cantor, Rita M; Wasserscheid, Jessica; Dewar, Ken; Warren, Wesley; Wilson, Richard K; Weinstock, George; Jentsch, J David; Freimer, Nelson B

2012-05-03

234

Trait Emotional Intelligence and Children's Peer Relations at School  

ERIC Educational Resources Information Center

|Trait emotional intelligence ("trait EI" or "trait emotional self-efficacy") is a constellation of emotion"related self"perceptions and dispositions comprising the affective aspects of personality. The present study investigated the role of trait EI in children's peer relations at school. One hundred and sixty pupils (83 girls; mean age = 10.8…

Petrides, K. V.; Sangareau, Yolanda; Furnham, Adrian; Frederickson, Norah

2006-01-01

235

Effects of normalization on quantitative traits in association test  

Microsoft Academic Search

BACKGROUND: Quantitative trait loci analysis assumes that the trait is normally distributed. In reality, this is often not observed and one strategy is to transform the trait. However, it is not clear how much normality is required and which transformation works best in association studies. RESULTS: We performed simulations on four types of common quantitative traits to evaluate the effects

Liang Goh; Von Bing Yap

2009-01-01

236

Psychopathic personality traits and risky sexual behavior in college students  

Microsoft Academic Search

Risky sexual behavior (RSB) is associated with a variety of negative health and social consequences including STDs and unplanned pregnancies. The present study focused on the association between psychopathic personality traits and RSB. College students (N=511) completed self-report measures of RSB, psychopathic personality traits, and sensation seeking. When sensation seeking, Fearless Dominance psychopathic traits, and Impulsive Antisociality psychopathic traits were

Jessica J. Fulton; David K. Marcus; Kathleen T. Payne

2010-01-01

237

Beta-thalassemia  

Microsoft Academic Search

Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms

Renzo Galanello; Raffaella Origa

2010-01-01

238

(High beta tokamak research)  

SciTech Connect

Our activities on High Beta Tokamak Research during the past 20 months of the present grant period can be divided into six areas: reconstruction and modeling of high beta equilibria in HBT; measurement and analysis of MHD instabilities observed in HBT; measurements of impurity transport; diagnostic development on HBT; numerical parameterization of the second stability regime; and conceptual design and assembly of HBT-EP. Each of these is described in some detail in the sections of this progress report.

Not Available

1989-01-01

239

In melanoma, beta-catenin is a suppressor of invasion.  

PubMed

Cell-type-specific signalling determines cell fate under physiological conditions, but it is increasingly apparent that also in cancer development the impact of any given oncogenic pathway on the individual cancer pathology is dependent on cell-lineage-specific molecular traits. For instance in colon and liver cancer canonical Wnt signalling produces increased cytoplasmic and nuclear localised beta-catenin, which correlates with invasion and poor prognosis. In contrast, in melanoma increased cytoplasmic and nuclear beta-catenin is currently emerging as a marker for good prognosis, and thus seems to have a different function compared with other cancer types; however, this function is unknown. We discovered that in contrast to its function in other cancers, in melanoma, beta-catenin blocks invasion. We demonstrate that this opposing role of nuclear beta-catenin in melanoma is mediated through MITF, a melanoma-specific protein that defines the lineage background of this cancer type. Downstream of beta-catenin MITF not only suppresses the Rho-GTPase-regulated cell morphology of invading melanoma cells, but also interferes with beta-catenin-induced expression of the essential collagenase MT1-MMP, thus affecting all aspects of an invasive phenotype. Importantly, overexpression of MITF in invasive colon cancer cells modifies beta-catenin-directed signalling and induces a 'melanoma phenotype'. In summary, the cell-type-specific presence of MITF in melanoma affects beta-catenin's pro-invasive properties otherwise active in colon or liver cancer. Thus our study reveals the general importance of considering cell-type-specific signalling for the accurate interpretation of tumour markers and ultimately for the design of rational therapies. PMID:21577209

Arozarena, I; Bischof, H; Gilby, D; Belloni, B; Dummer, R; Wellbrock, C

2011-05-16

240

Alpha E beta 7.  

PubMed Central

alpha E beta 7 is a member of the integrin family and is expressed almost exclusively by cells of the T lymphocyte lineage in mucosal tissues. Expression is induced by transforming growth factor beta in the mucosal microenvironment. Genetic elements that control transcription are under investigation and may prove valuable for directing the expression of transgenes in mucosal T cells. The only known ligand for alpha E beta 7 is E-cadherin, which is expressed on epithelial cells. In this article, molecular aspects of ligand recognition by alpha E beta 7 in relation to recent structural data on cadherin domains are reviewed. Expression of alpha E beta 7 is often increased in inflammatory diseases, particularly where T cells infiltrate epithelial tissues. The function of alpha E beta 7 is not yet fully understood, but it is likely to be important in retention of T cells in mucosal tissues and may also have a role in cell signalling and communication between lymphocytes and epithelial surfaces.

Kilshaw, P J

1999-01-01

241

Beta Decay of Ru103  

Microsoft Academic Search

In an earlier investigation, the intense inner beta spectrum of Ru103 was observed by Kondaiah to have an anomalous shape corresponding to a deficiency of electrons at low energy. This shape could not be explained by the generally accepted theory of beta decay. By use of a 4pi beta-ray scintillation spectrometer, this beta group has been studied in coincidence with

R. L. Robinson; L. M. Langer

1958-01-01

242

Iron metabolism in heterozygotes for hemoglobin E (HbE), alpha-thalassemia1, or beta-thalassemia and in compound heterozygotes for HbE\\/ beta-thalassemia  

Microsoft Academic Search

BACKGROUND: Despite large populations carrying traits for thalassemia in countries implementing universal iron fortification, there are few data on the absorption and utilization of iron in these persons. OBJECTIVE: We aimed to determine whether iron absorption or utilization (or both) in women heterozygous for beta-thalassemia, alpha-thalassemia 1, or hemoglobin E (HbE) differed from that in control subjects and compound HbE\\/beta-thalassemia

M. B. Zimmermann; S. Fucharoen; P. Winichagoon; P. Sirankapracha; C. Zeder; S. Gowachirapant; K. Judprasong; T. Tanno; J. L. Miller; R. F. Hurrell

2008-01-01

243

Overlapping chromosomal regions for fertility traits and production traits in the Danish Holstein population.  

PubMed

Before implementing selection based on quantitative trait loci (QTL) for fertility, it is important to determine the existence of correlated effects between the fertility QTL and QTL with effects on production traits. When a QTL is detected for a trait that is a composite of subtraits, it is of interest to validate which of the subtraits are affected by the QTL. Phenotypic and marker data were collected from 34 grandsire families from the Danish Holstein population. First, the trait data for "fertility treatments" were separated into their underlying subtraits: uterine infections, antibiotics placed in the placenta, and abortions. In addition, retained placenta was selected for analysis because it is related to uterine infections. A genome scan was performed using 416 microsatellite markers for the fertility treatment subtraits and retained placenta, and an additional genome scan for milk production traits conditional on the QTL regions for the subtraits and retained placenta was conducted. Second, we selected 24 genomic regions harboring QTL for fertility traits from a previous study. A QTL scan for milk production traits conditional on the selected regions was conducted. We found that 16 selected genomic regions containing a QTL for fertility (including the fertility treatment subtraits and retained placenta) also harbored QTL for milk yield or milk composition traits. Furthermore, 12 QTL regions corresponding to 9 different fertility traits (including the fertility treatment subtraits) did not harbor a QTL for milk production or milk composition traits; that is, the region was specific for the fertility trait. The genome scan for the fertility treatment subtraits did not correspond to the QTL found for fertility treatments. No QTL were detected for the subtrait abortion, however genome scans for retained placenta revealed 4 different QTL. PMID:19841231

Höglund, J K; Buitenhuis, A J; Guldbrandtsen, B; Su, G; Thomsen, B; Lund, M S

2009-11-01

244

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

245

Mapping of quantitative trait loci controlling adaptive traits in coastal Douglas fir. III. Quantitative trait loci-by-environment interactions.  

PubMed Central

Quantitative trait loci (QTL) were mapped in the woody perennial Douglas fir (Pseudotsuga menziesii var. menziesii [Mirb.] Franco) for complex traits controlling the timing of growth initiation and growth cessation. QTL were estimated under controlled environmental conditions to identify QTL interactions with photoperiod, moisture stress, winter chilling, and spring temperatures. A three-generation mapping population of 460 cloned progeny was used for genetic mapping and phenotypic evaluations. An all-marker interval mapping method was used for scanning the genome for the presence of QTL and single-factor ANOVA was used for estimating QTL-by-environment interactions. A modest number of QTL were detected per trait, with individual QTL explaining up to 9.5% of the phenotypic variation. Two QTL-by-treatment interactions were found for growth initiation, whereas several QTL-by-treatment interactions were detected among growth cessation traits. This is the first report of QTL interactions with specific environmental signals in forest trees and will assist in the identification of candidate genes controlling these important adaptive traits in perennial plants.

Jermstad, Kathleen D; Bassoni, Daniel L; Jech, Keith S; Ritchie, Gary A; Wheeler, Nicholas C; Neale, David B

2003-01-01

246

The State-Trait Anxiety Inventory, Trait Version: Does It Really Measure Anxiety?  

Microsoft Academic Search

To clarify what is actually measured by the trait version of the State-Trait Anxiety Inventory (STAI; Spielberger, Gorsuch, & Lushene, 1970), we conducted a confirmatory factor analysis of various models and evaluated convergent and discriminant validity. The best fit was obtained with both a bifactor model, comprising 2 specific factors plus a general factor, and a 1-construct, 2-method model. The

Arturo Bados; Juana Gómez-Benito; Gemma Balaguer

2010-01-01

247

Source of Covariation between the State and Trait Scales of the State-Trait Anxiety Inventory  

Microsoft Academic Search

The source of the covariation between the state and trait scales of the State-Trait Anxiety Inventory was investigated in 73 male and female undergraduates with use of correlations between factors identified by Endler and Magnusson and by Loo. It was found that the lesser factors carried the covariation and that method variance, rather than content overlap of items, may be

Pamela Logan; Robert Loo

1979-01-01

248

LINKAGE MAPPING OF QTLS FOR MORPHOLOGICAL TRAITS IN RYEGRASS: SEED TRAITS  

Technology Transfer Automated Retrieval System (TEKTRAN)

Ryegrasses (Lolium spp.) are cool-season grasses used for both turf and pasture. Knowledge of genes controlling morphological traits important in seed production would help in understanding relationships among species and assist breeders in plant improvement. Quantitative trait loci (QTLs) for a num...

249

Quantitative Trait Loci Responsible for Variation in Sexually Dimorphic Traits in Drosophila melanogaster  

Microsoft Academic Search

To understand the mechanisms of morphological evolution and species divergence, it is essential to elucidate the genetic basis of variation in natural populations. Sexually dimorphic characters, which evolve rapidly both within and among species, present attractive models for addressing these questions. In this report, we map quantitative trait loci (QTL) responsible for variation in sexually dimorphic traits (abdomi- nal pigmentation

Artyom Kopp; Rita M. Graze; Shizhong Xu; Sean B. Carroll; Sergey V. Nuzhdin

250

Quantitative Trait Loci Influencing End-use Quality Traits of Hard Red Spring Wheat Breeding Lines  

Technology Transfer Automated Retrieval System (TEKTRAN)

Wheat end-product quality is determined by a complex group of traits including dough visco-elastic characteristics and bread-making properties. Quantitative trait locus (QTL) mapping and analysis were conducted for endosperm texture and polymeric proteins, dough mixing strength and bread-making prop...

251

Selecting Informative Traits for Multivariate Quantitative Trait Locus Mapping Helps to Gain Optimal Power  

PubMed Central

A major consideration in multitrait analysis is which traits should be jointly analyzed. As a common strategy, multitrait analysis is performed either on pairs of traits or on all of traits. To fully exploit the power of multitrait analysis, we propose variable selection to choose a subset of informative traits for multitrait quantitative trait locus (QTL) mapping. The proposed method is very useful for achieving optimal statistical power for QTL identification and for disclosing the most relevant traits. It is also a practical strategy to effectively take advantage of multitrait analysis when the number of traits under consideration is too large, making the usual multivariate analysis of all traits challenging. We study the impact of selection bias and the usage of permutation tests in the context of variable selection and develop a powerful implementation procedure of variable selection for genome scanning. We demonstrate the proposed method and selection procedure in a backcross population, using both simulated and real data. The extension to other experimental mapping populations is straightforward.

Cheng, Riyan; Borevitz, Justin; Doerge, R. W.

2013-01-01

252

Defining Self-Worth: Trait Self-Esteem Moderates the Use of Self-Serving Trait Definitions in Social Judgment  

Microsoft Academic Search

People possess self-serving definitions of social traits and categories. When a trait is positive, people emphasize their own attributes in their definition of the trait. When the trait is negative, they de-emphasize self-attributes. Across three studies, we discovered that this tendency is moderated by dispositional self-esteem. High self-esteem individuals articulate more self-serving trait definitions than their low esteem counterparts. This

Keith S. Beauregard; David Dunning

2001-01-01

253

Why Do We Test Multiple Traits in Genetic Association Studies?  

PubMed

In studies of complex disorders such as nicotine dependence, it is common that researchers assess multiple variables related to a disorder as well as other disorders that are potentially correlated with the primary disorder of interest. In this work, we refer to those variables and disorders broadly as multiple traits. The multiple traits may or may not have a common causal genetic variant. Intuitively, it may be more powerful to accommodate multiple traits in genetic traits, but the analysis of multiple traits is generally more complicated than the analysis of a single trait. Furthermore, it is not well documented as to how much power we may potentially gain by considering multiple traits. Our aim is to enhance our understanding on this important and practical issue. We considered a variety of correlation structures between traits and the disease locus. To focus on the effect of accommodating multiple traits, we examined genetic models that are relatively simple so that we can pinpoint the factors affecting the power. We conducted simulation studies to explore the performance of testing multiple traits simultaneously and the performance of testing a single trait at a time in family-based association studies. Our simulation results demonstrated that the performance of testing multiple traits simultaneously is better than that of testing each trait individually for almost models considered. We also found that the power of association tests varies among the underlying models. The advantage of conducting a multiple traits test is minimized when some traits are influenced by the gene only through other traits; and it is maximized when there are causal relations between the traits and the gene, and among the traits themselves or when there are extraneous traits. PMID:19655045

Zhu, Wensheng; Zhang, Heping

2009-01-01

254

Genome scan detects quantitative trait loci affecting female fertility traits in Danish and Swedish Holstein cattle.  

PubMed

Data from the joint Nordic breeding value prediction for Danish and Swedish Holstein grandsire families were used to locate quantitative trait loci (QTL) for female fertility traits in Danish and Swedish Holstein cattle. Up to 36 Holstein grandsires with over 2,000 sons were genotyped for 416 microsatellite markers. Single trait breeding values were used for 12 traits relating to female fertility and female reproductive disorders. Data were analyzed by least squares regression analysis within and across families. Twenty-six QTL were detected on 17 different chromosomes. The best evidence was found for QTL segregating on Bos taurus chromosome (BTA)1, BTA7, BTA10, and BTA26. On each of these chromosomes, several QTL were detected affecting more than one of the fertility traits investigated in this study. Evidence for segregation of additional QTL on BTA2, BTA9, and BTA24 was found. PMID:19389971

Höglund, J K; Guldbrandtsen, B; Su, G; Thomsen, B; Lund, M S

2009-05-01

255

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

256

Can soft biometric traits assist user recognition?  

NASA Astrophysics Data System (ADS)

Biometrics is rapidly gaining acceptance as the technology that can meet the ever increasing need for security in critical applications. Biometric systems automatically recognize individuals based on their physiological and behavioral characteristics. Hence, the fundamental requirement of any biometric recognition system is a human trait having several desirable properties like universality, distinctiveness, permanence, collectability, acceptability, and resistance to circumvention. However, a human characteristic that possesses all these properties has not yet been identified. As a result, none of the existing biometric systems provide perfect recognition and there is a scope for improving the performance of these systems. Although characteristics like gender, ethnicity, age, height, weight and eye color are not unique and reliable, they provide some information about the user. We refer to these characteristics as "soft" biometric traits and argue that these traits can complement the identity information provided by the primary biometric identifiers like fingerprint and face. This paper presents the motivation for utilizing soft biometric information and analyzes how the soft biometric traits can be automatically extracted and incorporated in the decision making process of the primary biometric system. Preliminary experiments were conducted on a fingerprint database of 160 users by synthetically generating soft biometric traits like gender, ethnicity, and height based on known statistics. The results show that the use of additional soft biometric user information significantly improves (approximately 6%) the recognition performance of the fingerprint biometric system.

Jain, Anil K.; Dass, Sarat C.; Nandakumar, Karthik

2004-08-01

257

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

258

Affective Traits in Schizophrenia and Schizotypy  

PubMed Central

This article reviews empirical studies of affective traits in individuals with schizophrenia spectrum disorders, population-based investigations of vulnerability to psychosis, and genetic and psychometric high-risk samples. The review focuses on studies that use self-report trait questionnaires to assess Negative Affectivity (NA) and Positive Affectivity (PA), which are conceptualized in contemporary models of personality as broad, temperamentally-based dispositions to experience corresponding emotional states. Individuals with schizophrenia report a pattern of stably elevated NA and low PA throughout the illness course. Among affected individuals, these traits are associated with variability in several clinically important features, including functional outcome, quality of life, and stress reactivity. Furthermore, evidence that elevated NA and low PA (particularly the facet of anhedonia) predict the development of psychosis and are detectable in high-risk samples suggests that these traits play a role in vulnerability to schizophrenia, though they are implicated in other forms of psychopathology as well. Results are discussed in terms of their implications for treatment, etiological models, and future research to advance the study of affective traits in schizophrenia and schizotypy.

Horan, William P.; Blanchard, Jack J.; Clark, Lee Anna; Green, Michael F.

2008-01-01

259

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

260

Relationship between personality traits and vocational choice.  

PubMed

Summary.-The relationship between occupational preferences and personality traits was examined. A randomly chosen sample of 735 students (age range = 17 to 23 years; 50.5% male) in their last year of high school participated in this study. Participants completed Cattell's Sixteen Personality Factor-5 Questionnaire (16PF-5 Questionnaire) and the Kuder-C Professional Tendencies Questionnaire. Initial hierarchical cluster analysis categorized the participants into two groups by Kuder-C vocational factors: one showed a predilection for scientific or technological careers and the other a bias toward the humanities and social sciences. Based on these groupings, differences in 16PF-5 personality traits were analyzed and differences associated with three first-order personality traits (warmth, dominance, and sensitivity), three second-order factors (extraversion, control, and independence), and some areas of professional interest (mechanical, arithmetical artistic, persuasive, and welfare) were identified. The data indicated that there was congruency between personality profiles and vocational interests. PMID:19928625

Garcia-Sedeño, Manuel; Navarro, Jose I; Menacho, Inmaculada

2009-10-01

261

A STUDY OF SCURCE TRAITS : MEDICAL STUDENTS  

PubMed Central

Medical profession is one of the prestigious and esteemed professions amidst the professional opportunities available to young aspirants. Armed Forces Medical College by its virtue of selective admission procedures, training and induction becomes the primary focus of such research. The aim of the present study was to evaluate source traits of 300 medical students, 150 each from AFMC and civil medical college. 16 PF was administered to evaluate the source traits of study groups. Findings revealed significant differences between two colleges. The students from two colleges differed significantly on factors ‘B’, ‘F’, ‘G’, ‘I’, ‘O’, Q1, Q3, Q4.

Srinivastava, Kalpana; Chakraborty, P.K.; Valdiya, P.S.; Raju, M.S.V.K.; Basannar, Dasharath

2000-01-01

262

Pleiotropy in complex traits: challenges and strategies.  

PubMed

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. PMID:23752797

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

2013-06-11

263

Unraveling the Complex Trait of Crop Yield With Quantitative Trait Loci Mapping in Brassica napus  

PubMed Central

Yield is the most important and complex trait for the genetic improvement of crops. Although much research into the genetic basis of yield and yield-associated traits has been reported, in each such experiment the genetic architecture and determinants of yield have remained ambiguous. One of the most intractable problems is the interaction between genes and the environment. We identified 85 quantitative trait loci (QTL) for seed yield along with 785 QTL for eight yield-associated traits, from 10 natural environments and two related populations of rapeseed. A trait-by-trait meta-analysis revealed 401 consensus QTL, of which 82.5% were clustered and integrated into 111 pleiotropic unique QTL by meta-analysis, 47 of which were relevant for seed yield. The complexity of the genetic architecture of yield was demonstrated, illustrating the pleiotropy, synthesis, variability, and plasticity of yield QTL. The idea of estimating indicator QTL for yield QTL and identifying potential candidate genes for yield provides an advance in methodology for complex traits.

Shi, Jiaqin; Li, Ruiyuan; Qiu, Dan; Jiang, Congcong; Long, Yan; Morgan, Colin; Bancroft, Ian; Zhao, Jianyi; Meng, Jinling

2009-01-01

264

Beta particle spectrometer for measuring aggregate beta spectra following fission  

NASA Astrophysics Data System (ADS)

The beta spectrometer consists of a gated plastic scintillator suitable for measuring aggregate beta energy spectra following fission. This general utility spectrometer is very insensitive to the gamma rays accompanying the fission products, has good linearity, and adequate energy resolution for these continuous beta energy distributions. Response functions are measured below 1 MeV and trial sets of response functions are tested with known beta spectra extending to 5 MeV.

Schier, W. A.; Campbell, J. M.; Couchell, G. P.; Li, S.; Nguyen, H. V.; Pullen, D. J.; Seabury, E. H.; Tipnis, S. V.

1998-02-01

265

Beta-thalassemia in Brazil.  

PubMed

1. Clinical, hematological, genetic and peripheral blood globin synthesis studies were carried out on 17 symptomatic Brazilian thalassemics and their parents who live in the northeast of São Paulo State. The group included 8 beta zero-thalassemia homozygotes, 7 carriers of at least one beta + gene, one delta beta zero/beta zero-thalassemia double heterozygote and one beta zero homozygote also carrying the alpha-chain variant Hb Hasharon (alpha 2(47) His beta 2). 2. The mean non-alpha/alpha ratio for globin biosynthesis of the patients lacking HbA (beta zero homozygotes and delta beta zero/beta zero double heterozygotes) was 0.26 +/- 0.11 (mean +/- SD), which is not statistically different from the value of 0.32 +/- 0.06 obtained for the carriers of at least one beta + gene. In contrast, the mean non-alpha/alpha ratio for the thalassemia major patients (0.22 +/- 0.07) was significantly lower than that obtained for the milder cases (0.34 +/- 0.06) although the beta/alpha ratios for the parents of the two groups were similar. 3. The heterogeneity within this group of Brazilian patients having two thalassemic genes, i.e. 60% who are beta zero homozygotes and 40% who are carriers of at least one beta + gene, is consistent with the Italian origin of most of these patients. PMID:6086110

Zago, M A; Costa, F; Bottura, C

1981-12-01

266

BETA DECAY OF Li⁸  

Microsoft Academic Search

The beta decay of Li⁸, formed in the Li⁷(d,p)Li⁸ ; reaction, was studied by measuring the energy distribution of the alpha paiticles ; that come from the subsequent breakup of Be⁸. The effects of the ; penetration into backing foils of the Li⁸ recoils were corrected for by ; comparing, for several deuteron bombarding energies, the alpha-particle spectra ; seen

David Alburger; P. F. Donovan; D. H. Wilkinson

1963-01-01

267

West's. beta. correction revisited  

SciTech Connect

It is shown that the existence of West's ..beta.. correction in the conventional approach to the Fermi-motion effects on deuterium targets is due to the use of the spectator approximation in deriving the normalization condition for the deuteron vertex. It is absent, however, in the nucleon-parton approach which uses the Brodsky parametrization method.

Kusno, D.

1982-12-01

268

Applied Beta Dosimetry  

SciTech Connect

Measurements of beta and/or nonpenetrating exposure results is complicated and past techniques and capabilities have resulted in significant inaccuracies in recorded results. Current developments have resulted in increased capabilities which make the results more accurate and should result in less total exposure to the work force. Continued development of works in progress should provide equivalent future improvements.

Rich, B.L.

1986-01-01

269

Nuclear beta decay  

Microsoft Academic Search

New formulae for nuclear beta decay are derived by using a modified expansion of the electron radial wave functions. This expansion is obtained by means of the integral equations which correspond to the Dirac radial differential equations. As a consequence new types of form factor coefficients or nuclear matrix elements occur which depend on the shape of the nuclear charge

H. Behrens; W. Bühring

1971-01-01

270

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

271

beta-Lactoglobulin identified in marsupial milk. The primary structure, binding site and possible function of beta-lactoglobulin from eastern grey kangaroo (Macropus giganteus).  

PubMed

beta-Lactoglobulin has been isolated in the milk of the Eastern Grey Kangaroo (Macropus giganteus). This is the first time this protein has been reported to be in the milk of marsupials. The complete amino-acid sequence has been determined by spinning cup and pulsed liquid phase microsequencing of the protein and peptides after enzymatic or cyanogen bromide cleavages. The 155-residue protein is the shortest beta-lactoglobulin so far sequenced. When the kangaroo protein is included in a comparison of the members of the beta-lactoglobulin family, the percentage of residues common to all members is reduced from 33% to 13%. Despite the large number of accumulated amino-acid exchanges the protein exists as a dimer and shows higher homology to the usually very conservative dimeric, ruminant beta-lactoglobulins than to the monomeric protein from monogastrics. Half-cystine residues that form disulphide bridges are conserved. The Eastern Grey Kangaroo beta-lactoglobulin possesses significant homology in several characteristic segments thought to be important for a functional trait common to the beta-lactoglobulin family and retinol-binding proteins. Structural similarity to the retinol-binding protein is indicated by 22% of identical residues. Homology to the beta-lactoglobulins and retinol-binding proteins, the binding site and possible function based on comparative structural studies are discussed. PMID:3620116

Godovac-Zimmermann, J; Shaw, D

1987-07-01

272

Lepton-violating beta-beta-, beta+beta+ decays, (e-, e+) conversion and double electron capture in gauge theories  

Microsoft Academic Search

The lepton violating processes beta-beta-, beta+beta+, (e-, e+) and double electron capture have been investigated in the context of modern gauge theories. Mechanisms involving light or heavy intermediate Majorana neutrinos, with or without right-handed currents, as well as Higgs particles, have been studied. The lepton-violating emission of light bosons, recently proposed by Georgi, Glashow and Nussinov, has also been analyzed.

J. D. Vergados

1983-01-01

273

VARIETIES OF PROJECTION IN TRAIT ATTRIBUTION  

Microsoft Academic Search

Personality has been assessed by peer reputation, and projection has been assessed by the attribution of traits to peers and to unknown photographed persons, using data from 214 men and 236 women. No evidence of similarity projection has been found even when insight, measured in 3 different ways, has been taken into consideration. Contrast, predicted from adaptation-level theory, has been

Donald T. Campbell; Norman Miller; Jacob Lubetsky; Edward J. OConnell

1964-01-01

274

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

2011-11-08

275

Quantitative trait loci and metabolic pathways  

PubMed Central

The interpretation of quantitative trait locus (QTL) studies is limited by the lack of information on metabolic pathways leading to most economic traits. Inferences about the roles of the underlying genes with a pathway or the nature of their interaction with other loci are generally not possible. An exception is resistance to the corn earworm Helicoverpa zea (Boddie) in maize (Zea mays L.) because of maysin, a C-glycosyl flavone synthesized in silks via a branch of the well characterized flavonoid pathway. Our results using flavone synthesis as a model QTL system indicate: (i) the importance of regulatory loci as QTLs, (ii) the importance of interconnecting biochemical pathways on product levels, (iii) evidence for “channeling” of intermediates, allowing independent synthesis of related compounds, (iv) the utility of QTL analysis in clarifying the role of specific genes in a biochemical pathway, and (v) identification of a previously unknown locus on chromosome 9S affecting flavone level. A greater understanding of the genetic basis of maysin synthesis and associated corn earworm resistance should lead to improved breeding strategies. More broadly, the insights gained in relating a defined genetic and biochemical pathway affecting a quantitative trait should enhance interpretation of the biological basis of variation for other quantitative traits.

McMullen, M. D.; Byrne, P. F.; Snook, M. E.; Wiseman, B. R.; Lee, E. A.; Widstrom, N. W.; Coe, E. H.

1998-01-01

276

FERTILITY IS NOW A SELECTION TRAIT  

Technology Transfer Automated Retrieval System (TEKTRAN)

Milk production has nearly doubled over the past 40 years, while days open has increased by about 40 days. Although cow fertility has been selected for indirectly via genetic evaluations for productive life, direct selection has been hampered by low heritability of fertility traits (about 4%) and la...

277

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

278

Phylogenetics Exercise Using Inherited Human Traits  

ERIC Educational Resources Information Center

A bioinformatics laboratory exercise based on inherited human morphological traits is presented. It teaches how morphological characters can be used to study the evolutionary history of humans using parsimony. The exercise can easily be used in a pen-and-paper laboratory, but if computers are available, a more versatile analysis can be carried…

Tuimala, Jarno

2006-01-01

279

The neural signatures of distinct psychopathic traits  

Microsoft Academic Search

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

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

2012-01-01

280

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.

281

Effects of Personality Traits on Experimental Games.  

National Technical Information Service (NTIS)

The study reports on the effects that personality plays in the choice of move in experimental games. Two 'trivial' games were developed, one to test the trait of trust and the other to test competitiveness. The third game used was the chicken game. It was...

M. H. Katz

1972-01-01

282

Trait procrastination, anxiety, and dilatory behavior  

Microsoft Academic Search

To examine the possible links between anxiety and procrastination, trait measures and self-report measures of dilatory behavior and state anxiety were obtained. A measure of state dejection, as distinguished from anxiety, was also included. Research participants were 23 female and 35 male first year Business Administration university students. Beginning 5 days prior to an examination period, these students reported on

Clarry Lay; Stuart Silverman

1996-01-01

283

Leadership roles and the gender stereotype traits  

Microsoft Academic Search

Men generally occupy the role of leader and women the role of follower in marital relationships. This research tested the hypothesis that these implicit leader-follower roles determine the way in which the gender stereotype traits are typically assigned to women and men. In one condition, the man was described as the leader in the marriage, and in another condition, the

Gwendolyn L. Gerber

1988-01-01

284

Cloning quantitative trait loci by insertional mutagenesis  

Microsoft Academic Search

This study explores the theoretical potential of “insertional mutagenesis” (i.e., mutagenesis as a result of integration of novel DNA sequences into the germ line), as a means of cloning quantitative trait loci (QTL). The approach presented is based on a direct search for mutagenic effects of a quantitative nature, and makes no assumptions as to the nature of the loci

M. Soller; J. S. Beckmann

1987-01-01

285

Genomic mining for complex disease traits with \\  

Microsoft Academic Search

Our rapidly growing knowledge regarding genetic variation in the human genome offers great potential for understanding the genetic etiology of disease. This, in turn, could revolutionize detection, treatment, and in some cases prevention of disease. While genes for most of the rare monogenic diseases have already been discovered, most common diseases are complex traits, resulting from multiple gene-gene and gene-environment

Margaret J. Eppstein; Joshua L. Payne; Bill C. White; Jason H. Moore

2007-01-01

286

Dependency Traits Among Parents of Drug Abusers  

ERIC Educational Resources Information Center

|Studies question whether there is a significant association between parents' dependency traits and drug habits in their offspring. Reported here is a survey of 1,091 young males. The reported occurrence of parents' alcohol consumption, smoking, use of stimulants and sedatives, and overeating were compared among abusers and non-users of hashish,…

Tennant, Forest S., Jr.

1976-01-01

287

Flexible emotional responsiveness in trait resilience.  

PubMed

Field studies and laboratory experiments have documented that a key component of resilience is emotional flexibility--the ability to respond flexibly to changing emotional circumstances. In the present study we tested the hypotheses that resilient people exhibit emotional flexibility: (a) in response to frequently changing emotional stimuli and (b) across multiple modalities of emotional responding. As participants viewed a series of emotional pictures, we assessed their self-reported affect, facial muscle activity, and startle reflexes. Higher trait resilience predicted more divergent affective and facial responses (corrugator and zygomatic) to positive versus negative pictures. Thus, compared with their low-resilient counterparts, resilient people appear to be able to more flexibly match their emotional responses to the frequently changing emotional stimuli. Moreover, whereas high-trait-resilient participants exhibited divergent startle responses to positive versus negative pictures regardless of the valence of the preceding trial, low-trait-resilient participants did not exhibit divergent startle responses when the preceding picture was negative. High-trait-resilient individuals, therefore, appear to be better able than are their low-resilient counterparts to either switch or maintain their emotional responses depending on whether the emotional context changes. The present findings broaden our understanding of the mechanisms underlying resilience by demonstrating that resilient people are able to flexibly change their affective and physiological responses to match the demands of frequently changing environmental circumstances. PMID:21707168

Waugh, Christian E; Thompson, Renee J; Gotlib, Ian H

2011-10-01

288

Psychopathic traits in adult ADHD patients  

Microsoft Academic Search

Previous studies have shown that the prevalence of attention deficit and hyperactivity disorder (ADHD) is elevated in prison inmates and in forensic patients with psychopathic traits. However, it is not clear whether ADHD and psychopathy scores also correlate in adult non-incarcerated samples. Moreover, it has not been examined if this correlation is due to specific facets of psychopathy. We assessed

H. Eisenbarth; G. W. Alpers; A. Conzelmann; C. P. Jacob; P. Weyers; P. Pauli

2008-01-01

289

Phylogenetics Exercise Using Inherited Human Traits  

ERIC Educational Resources Information Center

|A bioinformatics laboratory exercise based on inherited human morphological traits is presented. It teaches how morphological characters can be used to study the evolutionary history of humans using parsimony. The exercise can easily be used in a pen-and-paper laboratory, but if computers are available, a more versatile analysis can be carried…

Tuimala, Jarno

2006-01-01

290

A Model of Personality and Emotional Traits  

Microsoft Academic Search

How do we construct credible personalities? The current SAL (Sensitive Artificial Listeners) characters were constructed intuitively and can be unconvincing. In addressing these issues, this paper considers a theory of personality and associated emotional traits, and discusses how behaviours associated with personality types in people may be adapted to develop characteristics of virtual agents. Our objective is to ensure that

Margaret Mcrorie; Ian Sneddon; Etienne De Sevin; Elisabetta Bevacqua; Catherine Pelachaud

2009-01-01

291

Transposable DNA elements and life history traits  

Microsoft Academic Search

As an initial study of the influence of transposable DNA elements on life history traits, and as a model system for estimating the impact of somatic genetic damage on longevity, the effect of P DNA element movement in somatic cells on adult lifespan was measured in Drosophila melanogaster males. Lifespan was significantly reduced in males that contained the somatically active

R. C. Woodruff

1992-01-01

292

A Psychological Profile of Defender Personality Traits  

Microsoft Academic Search

The security community has used psychological research on attacker personalities, but little work has been done to investigate the personalities of the defenders. One instrument currently dominating personality research is the Five Factor Model, a taxonomy that identifies five major domains of personal traits, composed of sets of facets. This model can be used within an organizational or vocational capacity

Tara Whalen; Carrie Gates

2007-01-01

293

Trait Affect and Job Search Outcomes  

ERIC Educational Resources Information Center

|The present study examines the role of trait affect in job search. One hundred and twenty-three university students completed measures of positive and negative affectivity, conscientiousness, job search self-efficacy, job search clarity, and job search intensity during their last year of school while on the job market. At the end of the school…

Cote, Stephane; Saks, Alan M.; Zikic, Jelena

2006-01-01

294

AUTONOMY AND AUTHENTICITY OF ENHANCED PERSONALITY TRAITS  

Microsoft Academic Search

ABSTRACTThere is concern that the use of neuroenhancements to alter character traits undermines consumer's authenticity. But the meaning, scope and value of authenticity remain vague. However, the majority of contemporary autonomy accounts ground individual autonomy on a notion of authenticity. So if neuroenhancements diminish an agent's authenticity, they may undermine his autonomy. This paper clarifies the relation between autonomy, authenticity

JAN CHRISTOPH BUBLITZ; REINHARD MERKEL

2009-01-01

295

Attitudinal Loyalty - Personality trait or brand specific?  

Microsoft Academic Search

A combination of two main measurement approaches have been advocated in the marketing literature for the measurement of attitudinal loyalty; namely brand-specific measures and personality trait measures. This paper demonstrates that attitudinal loyalty should be measured using brand specific measures rather than measures which relate to an individual's propensity to be brand loyal, as brand-specific measures will better explain purchasing

Rebekah Bennett; Sharyn Rundle-Thiele

2000-01-01

296

Acute renal failure in sickle cell trait.  

PubMed

Acute renal failure and a syndrome characteristic of acute renal vein thrombosis developed in a patient with sickle trait and gram-negative bacteremia. It is suggested that intrarenal vaso-occlusion by sickled erythrocytes produced signs and symptoms typical of renal vein thrombosis and contributed to the severity of the acute renal failure. PMID:1096410

Frascino, J A; Grabstald, H

1975-08-01

297

[Is drepanocitic trait asymptomatic? (author's transl)].  

PubMed

With regard to its distribution the drepanocytic trait has a slight pathological incidence and does not appreciably alter the vital prospect. It is not, still, completely asymptomatic and may be, in special pathophysiological conditions, a morbidity and even lethality risk factor. Its connexions with various other diseases should be considered. PMID:723560

Le Bras, M; Delmas, M; Longy, M; Jaubert, D; Candito, D

298

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

299

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

300

Mapping of quantitative trait loci for canopy wilting trait in soybean (Glycine max L.  

Technology Transfer Automated Retrieval System (TEKTRAN)

Drought stress adversely affects [Glycine max (L.) Merr] soybean at most developmental stages, which collectively results in yield reduction. Little information is available on relative contribution and chromosomal locations of quantitative trait loci (QTL) conditioning drought tolerance in soybean...

301

Personality Traits, Television Viewing, and the Cultivation Effect  

Microsoft Academic Search

This research investigates the impact of 3 personality traits—trait anxiety, sensation seeking, and psychoticism—on cultivation effects regarding perceptions of violence. A survey measuring violence prevalence estimates, personality traits, television consumption, and genre preferences was completed by 427 undergraduates. Results indicate that low trait–anxious individuals, and to a lesser extent high sensation seekers, are more susceptible to cultivation regarding personal vulnerability

Robin L. Nabi; Karyn Riddle

2008-01-01

302

Critical review of state-trait curiosity test development  

Microsoft Academic Search

State-trait research offers good prospects for new insights into human curiosity. It has already generated development of new scales, and several studies have been undertaken independently in Australia and the United States. This paper critically reviews the development of state [C-State] and trait [C-Trait] curiosity scales, pointing out methodological limitations in the existing state-trait curiosity studies. Specific recommendations are made

Gregory J. Boyle

1983-01-01

303

On the criterion and incremental validity of trait emotional intelligence  

Microsoft Academic Search

This paper presents a comprehensive investigation of the criterion and incremental validity of trait emotional intelligence (trait EI or trait emotional self-efficacy), which is defined as a constellation of emotion-related self-perceptions and dispositions located at the lower levels of personality hierarchies (Petrides & Furnham, 2001). In Studies 1 and 2 (N=166 and 354, respectively) trait EI is shown to be

K. V. Petrides; Juan Carlos Pérez-González; Adrian Furnham

2007-01-01

304

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

305

Sickle cell trait and military service.  

PubMed

In the community great efforts have been made to educate those with sickle cell trait that their condition is not a handicap and that they are fit to lead a normal life. It would be seen as a retrograde step for the Armed Forces to imply that they are in some way unfit for normal duties. The evidence presented demonstrates that with the exception of a small excess risk of sudden unexplained death during training there is no objection to recruiting those with sickle cell trait into the Royal Navy. At present those with sickle cell disorders are barred from service in the Royal Marine Commandos and from diving, submarine and aircrew service. On the basis of the evidence presented in this review a case can be made for allowing those with sickle cell trait to enter as aircrew in helicopters but not as pilots. In view of the requirements for military divers to operate in cold water under stressful conditions the exclusion of those with sickle cell trait is entirely justified. The overriding requirement must be the safety of both the affected individual and of others and the current regulations reflect this. Screening of all recruits and officer entrants in appropriate racial groups is not performed at present but would allow counselling and advice to be given to those affected by sickle cell trait at an early stage of their careers and the reasons for their exclusion from certain branches fully explained either by establishment Medical Officers or by the haematologist.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:2197408

James, C M

1990-01-01

306

Multiple-trait quantitative trait locus mapping with incomplete phenotypic data  

Microsoft Academic Search

BACKGROUND: Conventional multiple-trait quantitative trait locus (QTL) mapping methods must discard cases (individuals) with incomplete phenotypic data, thereby sacrificing other phenotypic and genotypic information contained in the discarded cases. Under standard assumptions about the missing-data mechanism, it is possible to exploit these cases. RESULTS: We present an expectation-maximization (EM) algorithm, derived for recombinant inbred and F2 genetic models but extensible

Zhigang Guo; James C Nelson

2008-01-01

307

Trait procrastination among dental students in India and its influence on academic performance.  

PubMed

Trait procrastination is believed to be highly prevalent among college students and detrimental to their educational performance. As the scenario among dental students is virtually unknown, this study was conducted to evaluate the prevalence of trait procrastination among dental students and to analyze its influence on their academic performance. A total of 174 fourth-year dental students from three dental colleges in India voluntarily completed the Lay's Procrastination Scale-student version (LPS). The mean percentage marks scored in the subsequent final university examinations were used as a measure of academic performance. The descriptive statistics were computed to evaluate the prevalence of significant procrastination (LPS score ?60). Mann-Whitney U test and multiple linear regressions were used to assess the influence of age and gender on procrastination severity, and the latter was again used to analyze the association between procrastination severity and academic performance. The results indicated that 27 percent (n=47) of the students exhibited a significant extent of trait procrastination; neither age nor gender affected its severity (p<0.05). Procrastination had a significant and negative impact on the academic performance of the student (beta=-0.150, p=0.039). These findings highlight the need for active measures to reduce the causes and consequences of procrastination in dental education. PMID:23066141

Madhan, Balasubramanian; Kumar, Cholleti Sudheer; Naik, Eslavath Seena; Panda, Sujit; Gayathri, Haritheertham; Barik, Ashish Kumar

2012-10-01

308

Evolutionary Game Theory and Adaptive Dynamics of Continuous Traits  

Microsoft Academic Search

Continuous-trait game theory fills the niche of enabling analytically solvable models of the evolution of biologically realistically complex traits. Game theory provides a mathematical language for under- standing evolution by natural selection. Continuous-trait game the- ory starts with the notion of an evolutionarily stable strategy (ESS) and adds the concept of convergence stability (that the ESS is an evo- lutionary

Brian J. McGill; Joel S. Brown

2007-01-01

309

Effect of Garment Style on the Perception of Personal Traits  

Microsoft Academic Search

The personal traits formed by perceivers of a stranger clothed in two sets of polar garment styles, daring-conservative and dressy-casual, were investigated in this study. The relationship between clothing interest ratings of subject and personal trait ratings of each garment style was also explored. The cues conveyed by four garment styles on the judgment of 18 personal traits evaluated on

Soae L. Paek

1986-01-01

310

Quantitative trait locus analyses and the study of evolutionary process  

Microsoft Academic Search

The past decade has seen a proliferation of studies that employ quantitative trait locus (QTL) approaches to diagnose the genetic basis of trait evolution. Advances in molecular techniques and analytical methods have suggested that an exact genetic description of the number and distribution of genes affecting a trait can be obtained. Although this possibility has met with some success in

DAVID L. E RICKSON; CHARLES B. F ENSTER; HANS K. S TENØIEN; DONALD PRICE

2004-01-01

311

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

312

Trait procrastination and the Big-five factors of personality  

Microsoft Academic Search

Trait procrastination is viewed as a summary variable linked to the predisposition to engage in dilatory behaviour. This paper sought to trace the sources of trait procrastination by locating it within the five-factor personality structure. Study 1 concerned self-ratings on trait adjectives (in Dutch) that were relevant in some way to procrastinatory behaviour. The position of these adjectives on the

Henri C. Schouwenburg; Clarry H. Lay

1995-01-01

313

RESPONDING TO SUICIDAL CALLS: DOES TRAIT ANXIETY HINDER OR HELP?  

Microsoft Academic Search

To see if trait anxiety and suicidality interfered with the ability to respond to suicidal crisis calls, 279 undergraduates completed measures of trait anxiety and suicidality in the past week, and the revised Suicide Intervention Response Inventory (SIRI-2). Unexpectedly, trait anxiety (but not suicidality) correlated with better SIRI-2 scores. In addition, students scored significantly more like the experts on the

MARCELINE MOULIN BROWN; LILLIAN M. RANGE

2005-01-01

314

Improved Agronomic and Quality Traits in Transgenic Crops: Recent Advances  

Microsoft Academic Search

The potential for genetic engineering of plants to produce new and useful traits in crops has now been confirmed. Although numerous examples exist in the literature of agronomically important traits, the examples of quality improvements are rare but increasing. This article describes several new agronomic and quality traits produced at the Monsanto Plant Science Division. Tomatoes have been produced that

Michael E. Fromm; David M. Stark; Glenn D. Austin; Frederick J. Perlak

1993-01-01

315

A trait based re-engineering technique for Java hierarchies  

Microsoft Academic Search

Traits are pure behavior components introduced in the Smalltalk community in order to integrate the traditional class inheritance with a composition mechanism: a class is composed by traits and inherits from superclasses. This offers the advantage of promoting code reuse. In this paper, we tackle the problem of re-engineering a Java hierarchy into traits, by adapting to a Java setting

Lorenzo Bettini; Viviana Bono; Marco Naddeo

2008-01-01

316

Epistasis and balanced polymorphism influencing complex trait variation  

Microsoft Academic Search

Complex traits such as human disease, growth rate, or crop yield are polygenic, or determined by the contributions from numerous genes in a quantitative manner. Although progress has been made in identifying major quantitative trait loci (QTL), experimental constraints have limited our knowledge of small-effect QTL, which may be responsible for a large proportion of trait variation. Here, we identified

Juergen Kroymann; Thomas Mitchell-Olds

2005-01-01

317

Epistasis: too often neglected in complex trait studies?  

Microsoft Academic Search

Interactions among loci or between genes and environmental factors make a substantial contribution to variation in complex traits such as disease susceptibility. Nonetheless, many studies that attempt to identify the genetic basis of complex traits ignore the possibility that loci interact. We argue that epistasis should be accounted for in complex trait studies; we critically assess current study designs for

Chris S. Haley; Örjan Carlborg

2004-01-01

318

Maccoby's Head/Heart Traits: Marketing versus Accounting Students.  

ERIC Educational Resources Information Center

|Nineteen head/heart traits derived from Maccoby's business ethics work were rated on importance to future careers by 148 marketing and 178 accounting students. Both groups rated head traits as most important. Marketing majors are not as "games" oriented as social stereotypes would indicate. The apparent imbalance between head and heart traits…

Kochunny, C. M.; And Others

1992-01-01

319

The genetics of quantitative traits: challenges and prospects  

Microsoft Academic Search

A major challenge in current biology is to understand the genetic basis of variation for quantitative traits. We review the principles of quantitative trait locus mapping and summarize insights about the genetic architecture of quantitative traits that have been obtained over the past decades. We are currently in the midst of a genomic revolution, which enables us to incorporate genetic

Eric A. Stone; Julien F. Ayroles; Trudy F. C. Mackay

2009-01-01

320

Complications Associated with Sickle Cell Trait: A Brief Narrative Review  

Microsoft Academic Search

Sickle cell trait occurs in approximately 300 million people worldwide, with the highest prevalence of approximately 30% to 40% in sub-Saharan Africa. Long considered a benign carrier state with relative protection against severe malaria, sickle cell trait occasionally can be associated with significant morbidity and mortality. Sickle cell trait is exclusively associated with rare but often fatal renal medullary cancer.

Geoffrey Tsaras; Amma Owusu-Ansah; Freda Owusua Boateng; Yaw Amoateng-Adjepong

2009-01-01

321

The nature and identification of quantitative trait loci  

PubMed Central

This white paper by eighty members of the Complex Trait Consortium presents a community’s view on the approaches and statistical analyses that are needed for the identification of genetic loci that determine quantitative traits. Quantitative trait loci (QTLs) can be identified in several ways, but is there a definitive test of whether a candidate locus actually corresponds to a specific QTL?

2007-01-01

322

Can externally activated trait concepts affect person judgments after encoding?  

Microsoft Academic Search

Current knowledge accessibility research assumes primed trait concepts to have no biasing effects beyond the encoding stage. In a series of studies, we challenge this assumption. We predict that trait concepts still can influence the person judgments of a predictor who previously stored the target person information through selective retrieval of trait congruent information. Our results consistently reveal assimilation effects

D Lerouge; D Smeesters; Luk Warlop

2004-01-01

323

A Behavioral Genetic Study of Trait Emotional Intelligence  

Microsoft Academic Search

Numerous models of emotional intelligence (EI) have proposed the existence of hitherto undiscovered mental abilities, competencies, and skills. The theory of trait emotional intelligence suggests that the content domains of these models invariably contain permutations of personality traits. The two studies in this article examine the heritability of trait EI scores with a view to demonstrating empirically that the construct

Philip A. Vernon; K. V. Petrides; Denis Bratko; Julie Aitken Schermer

2008-01-01

324

Joint linkage and segregation analysis under multiallelic trait inheritance: Simplifying interpretations for complex traits  

PubMed Central

Identification of the genetic basis of common traits may be hindered by underlying complex genetic architectures that are inadequately captured by existing models, including both multiallelic and multilocus modes of inheritance (MOI). One useful approach for localizing genes underlying continuous complex traits is the joint oligogenic linkage and segregation analysis implemented in the package Loki. The method uses reversible jump Markov chain Monte Carlo to eliminate the need to prespecify the number of quantitative trait loci (QTLs) in the trait model, thus providing posterior distributions for the number of QTLs in a Bayesian framework. The current implementation assumes QTLs are diallelic, and therefore can overestimate the number of linked QTLs in the presence of a multiallelic QTL. To address the possibility of multiple alleles, we extended the QTL model to allow for a variable number of additive alleles at each locus. Application to simulated data shows that, under a diallelic MOI, the multiallelic and diallelic analysis models give similar results. Under a multiallelic MOI, the multiallelic analysis model provides better mixing and improved convergence, and leads to a more accurate estimate of the underlying trait MOI and model parameter values, than does the diallelic model. Application to real data shows the multiallelic model results in fewer estimated linked QTLs and that the predominant QTL model is similar to one of two predominant models estimated from the diallelic analysis. Our results indicate that use of a multiallelic analysis model can lead to better understanding of the genetic architecture underlying complex traits.

Rosenthal, Elisabeth A.; Wijsman, Ellen M.

2010-01-01

325

Effects of genetic and environmental factors on trait network predictions from quantitative trait locus data.  

PubMed

The use of high-throughput genomic techniques to map gene expression quantitative trait loci has spurred the development of path analysis approaches for predicting functional networks linking genes and natural trait variation. The goal of this study was to test whether potentially confounding factors, including effects of common environment and genes not included in path models, affect predictions of cause-effect relationships among traits generated by QTL path analyses. Structural equation modeling (SEM) was used to test simple QTL-trait networks under different regulatory scenarios involving direct and indirect effects. SEM identified the correct models under simple scenarios, but when common-environment effects were simulated in conjunction with direct QTL effects on traits, they were poorly distinguished from indirect effects, leading to false support for indirect models. Application of SEM to loblolly pine QTL data provided support for biologically plausible a priori hypotheses of QTL mechanisms affecting height and diameter growth. However, some biologically implausible models were also well supported. The results emphasize the need to include any available functional information, including predictions for genetic and environmental correlations, to develop plausible models if biologically useful trait network predictions are to be made. PMID:19139147

Remington, David L

2009-01-12

326

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

327

Quantitative trait loci affecting eggshell traits in an F(2) population.  

PubMed

Good eggshell quality is important for both table egg quality and chicken reproductive performance. Weak eggshells cause economic losses in all production steps. Poor eggshell quality also poses increased risk for Salmonella infections. Eggshell quality has been a difficult trait to improve by traditional breeding, as it can be measured only for females and it is difficult and expensive to measure. Breeding for improved shell quality may therefore benefit from the use of marker-assisted selection. In an effort to find markers linked to eggshell quality, we have used an F(2) population of 668 females to map quantitative trait loci (QTL) affecting eggshell traits (eggshell deformation, breaking force, weight). By using 160 microsatellite markers on 27 chromosomes, we found 11 genome-wide and 15 suggestive QTL for shell traits measured at different times during production. Loci affecting the deformation were found on chromosomes 1, 2, 6, 10, 14 and Z. Loci affecting the breaking force were detected on chromosomes 2, 3, 10, 12 and Z. Loci affecting the shell weight were detected on chromosomes 6, 12, 24 and Z. Each QTL explains between 1.5% and 4.6% of the phenotypic variance, adding up to 10-15% of total phenotypic variance explained for the different traits. No epistatic effects were observed between loci affecting eggshell traits. Because the effects for quality are mainly additive, these results provide a basis for further characterization of the loci to identify closely linked markers to be used in marker-assisted selection. PMID:21054450

Tuiskula-Haavisto, M; Honkatukia, M; Preisinger, R; Schmutz, M; de Koning, D J; Wei, W H; Vilkki, J

2010-11-04

328

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

329

A Study of CNVs As Trait-Associated Polymorphisms and As Expression Quantitative Trait Loci  

PubMed Central

We conducted a comprehensive study of copy number variants (CNVs) well-tagged by SNPs (r2?0.8) by analyzing their effect on gene expression and their association with disease susceptibility and other complex human traits. We tested whether these CNVs were more likely to be functional than frequency-matched SNPs as trait-associated loci or as expression quantitative trait loci (eQTLs) influencing phenotype by altering gene regulation. Our study found that CNV–tagging SNPs are significantly enriched for cis eQTLs; furthermore, we observed that trait associations from the NHGRI catalog show an overrepresentation of SNPs tagging CNVs relative to frequency-matched SNPs. We found that these SNPs tagging CNVs are more likely to affect multiple expression traits than frequency-matched variants. Given these findings on the functional relevance of CNVs, we created an online resource of expression-associated CNVs (eCNVs) using the most comprehensive population-based map of CNVs to inform future studies of complex traits. Although previous studies of common CNVs that can be typed on existing platforms and/or interrogated by SNPs in genome-wide association studies concluded that such CNVs appear unlikely to have a major role in the genetic basis of several complex diseases examined, our findings indicate that it would be premature to dismiss the possibility that even common CNVs may contribute to complex phenotypes and at least some common diseases.

Gamazon, Eric R.; Nicolae, Dan L.; Cox, Nancy J.

2011-01-01

330

Macromedia Fireworks Beta  

NSDL National Science Digital Library

Fireworks, a product of Macromedia, was recently made available as a free evaluation beta version for Windows and Macintosh. Acting as several tools in one, Fireworks allows one to create and edit graphics, as well as automatically generate the HTML and/or Javascript for implementing the graphics. Some features include: definition of image maps, automatic generation of Javascript rollovers, a text editor which retains font/size/etc., paint/draw toolbars, and the ability to create gif animations. Keep in mind that this is a beta version; bugs may be experienced. Provided in the download are a list of these bugs, sample art files, and tutorials. More information and a gallery of sites which have used this tool are available at the site.

331

Beta-thalassemia  

PubMed Central

Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis). Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta globin gene on chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). Transmission is autosomal recessive; however, dominant mutations have also been reported. Diagnosis of thalassemia is based on hematologic and molecular genetic testing. Differential diagnosis is usually straightforward but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other conditions with high levels of HbF (such as juvenile myelomonocytic leukemia and aplastic anemia). Genetic counseling is recommended and prenatal diagnosis may be offered. Treatment of thalassemia major includes regular RBC transfusions, iron chelation and management of secondary complications of iron overload. In some circumstances, spleen removal may be required. Bone marrow transplantation remains the only definitive cure currently available. Individuals with thalassemia intermedia may require splenectomy, folic acid supplementation, treatment of extramedullary erythropoietic masses and leg ulcers, prevention and therapy of thromboembolic events. Prognosis for individuals with beta-thalassemia has improved substantially in the last 20 years following recent medical advances in transfusion, iron chelation and bone marrow transplantation therapy. However, cardiac disease remains the main cause of death in patients with iron overload.

2010-01-01

332

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

333

Theory of Beta Decay  

Microsoft Academic Search

Contents 1. Introduction 2. Fermi or Kurie Plot and Spectral Shape Factor 3. Experimental Data of Beta-Ray Spectra 4. Fierz Interference 5. Coulomb Corrections 5A. General 5B. Finite de Broglie Wavelength Effect 5C. Finite Nuclear Size Correction 5D. Combination of the Effects given in 5B and 5C 5E. Higher Order Terms in Taylor Expansion of Electron Wave Functions 5F. Screening

M. Morita

1963-01-01

334

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

335

A psychometric evaluation of the parent report form of the State-Trait Anxiety Inventory for Children—Trait Version  

Microsoft Academic Search

We examined the psychometric characteristics of the State-Trait Anxiety Inventory for Children–Parent Report—Trait Version (STAIC-P-T) [Strauss, C. (1987). Modification of trait portion of State-Trait Anxiety Inventory for Children–Parent Form. Gainesville, FL: University of Florida], a brief, parent report paper-and-pencil measure of child chronic anxiety, in a large clinic-referred sample. Internal consistency coefficients were high and retest reliability coefficients were in

Michael A Southam-Gerow; Ellen C Flannery-Schroeder; Philip C Kendall

2003-01-01

336

Density of Common Complex Ocular Traits in the Aging Eye: Analysis of Secondary Traits in Genome-Wide Association Studies  

PubMed Central

Genetic association studies are identifying genetic risks for common complex ocular traits such as age-related macular degeneration (AMD). The subjects used for discovery of these loci have been largely from clinic-based, case-control studies. Typically, only the primary phenotype (e.g., AMD) being studied is systematically documented and other complex traits (e.g., affecting the eye) are largely ignored. The purpose of this study was to characterize these other or secondary complex ocular traits present in the cases and controls of clinic-based studies being used for genetic study of AMD. The records of 100 consecutive new patients (of any diagnosis) age 60 or older for which all traits affecting the eye had been recorded systematically were reviewed. The average patient had 3.5 distinct diagnoses. A subset of 10 complex traits was selected for further study because they were common and could be reliably diagnosed. The density of these 10 complex ocular traits increased by 0.017 log-traits/year (P?=?0.03), ranging from a predicted 2.74 at age 60 to 4.45 at age 90. Trait-trait association was observed only between AMD and primary vitreomacular traction (P?=?0.0009). Only 1% of subjects age 60 or older had no common complex traits affecting the eye. Extrapolations suggested that a study of 2000 similar subjects would have sufficient power to detect genetic association with an odds ratio of 2.0 or less for 4 of these 10 traits. In conclusion, the high prevalence of complex traits affecting the aging eye and the inherent biases in referral patterns leads to the potential for confounding by undocumented secondary traits within case-control studies. In addition to the primary trait, other common ocular phenotypes should be systematically documented in genetic association studies so that adjustments for potential trait-trait associations and other bias can be made and genetic risk variants identified in secondary analyses.

Edwards, Albert O.; Lee, Sung J.; Fridley, Brooke L.; Tosakulwong, Nirubol

2008-01-01

337

Relationships of growth hormone gene and milk protein polymorphisms to milk production traits in Simmental cattle.  

PubMed

The importance of milk proteins and the positive effect of administration of growth hormone (GH) on milk production, and the presence in some dairy cattle lines of greater GH concentrations prompted us to examine the presence of restriction fragment length polymorphism at the GH gene using the restriction enzyme TaqI and to investigate associations between this polymorphism in Simmental cows and bulls, as well as milk protein variants in Simmental cows, and milk production traits. Blood and milk were sampled from 279 Italian Simmental cows and semen was collected from 148 bulls of the same breed. Two fragment bands, denoted A and B, of 6200 and 5200 bp respectively, were examined and three patterns, AA, AB and BB, were found in both animal samples. All variants previously reported in other studies, for kappa, beta, and alpha s1-caseins, and beta-lactoglobulin, were found in the cows' samples. For the cows' samples, a BLUP (Best Linear Unbiased Predictor) analysis of results was performed using a REML (Restricted Maximum Likelihood) program and known heritabilities, whereas for bulls we have performed a General Linear Model analysis. The effect of GH gene polymorphism, using TaqI restriction enzyme, on milk production traits was not significant, but bulls of BB pattern had a higher breeding value for milk yield than AA bulls (P < 0.05). For the kappa-casein genotypic effects, cows of AB genotype gave milk with 1.53 +/- 0.70 g/kg less fat than cows of AA genotype. In addition, breeding values for milk protein content were significantly higher in BB bulls, with 0.87 +/- 0.32 and 0.71 +/- 0.34 g/kg more milk protein than AA and AB bulls respectively. Thus, our results revealed a GH gene polymorphism and indicated significant effects of milk protein polymorphisms on milk production traits in the Italian Simmental breed. PMID:9120077

Falaki, M; Prandi, A; Corradini, C; Sneyers, M; Gengler, N; Massart, S; Fazzini, U; Burny, A; Portetelle, D; Renaville, R

1997-02-01

338

Meat quality traits were unaffected by a quantitative trait locus affecting leg composition traits in Texel sheep.  

PubMed

A QTL affecting leg muscle and fat traits has been identified within the New Zealand Texel population. The QTL maps to a region on OAR 2 with a two-marker haplotype test established at markers BULGE20 and BM81124. These markers encompass the likely position of Growth Differentiation Factor 8 (GDF8). The pleiotropic effects of this QTL on meat quality traits are tested. Objective measures of meat quality including pH, color (L*, a*, and b*), and tenderness (as assessed by Warner-Bratzler shear force measurements) were assessed on longissimus and semi-membranosus muscles of 540 progeny from six Texel sires. Four of these sires were subsequently identified as segregating for leg muscle and fat traits. For these segregating sires, comparison of progeny that had inherited the favorable haplotype from their sire with those that had received the alternate haplotype revealed no significant differences in the meat quality traits assessed. This finding suggests that the muscling QTL does not have pleiotropic effects on meat quality. A general scan for meat quality QTL was carried out using genotype data for eight markers from FCB128 to RM356 flanking 122cM of OAR 2 using Haley-Knott regression. This analysis revealed two QTL for a single sire. A QTL detected in the region of Marker INRA40 for color L* mapped to a site close to the muscling QTL, but there was evidence to suggest it is at a distinct locus. The QTL in the region of Marker RM356 might map distal to Marker RM356, as no peak was observed. This QTL, which seems to affect pH, color a*, color b*, and Warner-Bratzler shear measurements, requires further characterization. PMID:16282610

Johnson, P L; McEwan, J C; Dodds, K G; Purchas, R W; Blair, H T

2005-12-01

339

Genome-wide identification of quantitative trait loci in a cross between Hampshire and Landrace II: Meat quality traits  

Microsoft Academic Search

BACKGROUND: Meat quality traits are important in pig breeding programs, but they are difficult to include in a traditional selection program. Marker assisted selection (MAS) of meat quality traits is therefore of interest in breeding programs and a Quantitative Trait Locus (QTL) analysis is the key to identifying markers that can be used in MAS. In this study, Landrace and

Ellen Markljung; Martin H Braunschweig; Peter Karlskov-Mortensen; Camilla S Bruun; Milena Sawera; In-Cheol Cho; Ingela Hedebro-Velander; Åsa Josell; Kerstin Lundström; Gertrud von Seth; Claus B Jørgensen; Merete Fredholm; Leif Andersson

2008-01-01

340

MAOA, MTHFR, and TNF-? genes polymorphisms and personality traits in the pathogenesis of migraine.  

PubMed

Migraine is a multifactorial disease with various factors, such as genetic polymorphisms and personality traits, but the contribution of those factors is not clear. To clarify the pathogenesis of migraine, the contributions of genetic polymorphisms and personality traits were simultaneously investigated using multivariate analysis. Ninety-one migraine patients and 119 non-headache healthy volunteers were enrolled. The 12 gene polymorphisms analysis and NEO-FFI personality test were performed. At first, the univariate analysis was performed to extract the contributing factors to pathogenesis of migraine. We then extracted the factors that independently contributed to the pathogenesis of migraine using multivariate stepwise logistic regression analysis. Using the multivariate analysis, three gene polymorphisms including monoamine oxidase A (MAOA) T941G, methylenetetrahydrofolate reductase (MTHFR) C677T, and tumor necrosis factor beta (TNF-?) G252?, and the neuroticism and conscientiousness scores in NEO-FFI were selected as significant factors that independently contributed to the pathogenesis of migraine. Their odds ratios were 1.099 (per point of neuroticism score), 1.080 (per point of conscientiousness score), 2.272 (T and T/T or T/G vs G and G/G genotype of MAOA), 1.939 (C/T or T/T vs C/C genotype of MTHFR), and 2.748 (G/A or A/A vs G/G genotype of TNF-?), respectively. We suggested that multiple factors, such as gene polymorphisms and personality traits, contribute to the pathogenesis of migraine. The contribution of polymorphisms, such as MAOA T941G, MTHFR C677T, and TNF-? G252A, were more important than personality traits in the pathogenesis of migraine, a multifactorial disorder. PMID:22193458

Ishii, Masakazu; Shimizu, Shunichi; Sakairi, Yuki; Nagamine, Ayumu; Naito, Yuika; Hosaka, Yukiko; Naito, Yuko; Kurihara, Tatsuya; Onaya, Tomomi; Oyamada, Hideto; Imagawa, Atsuko; Shida, Kenji; Takahashi, Johji; Oguchi, Katsuji; Masuda, Yutaka; Hara, Hajime; Usami, Shino; Kiuchi, Yuji

2011-12-23

341

Personality traits of british hospice volunteers.  

PubMed

In total, 120 British female hospice volunteers completed the NEO five-factor inventory (NEO-FFI) of Costa Jr and McCrae.(1) The NEO-FFI measures the so-called big 5 personality traits of neuroticism, extraversion, openness, agreeableness, and conscientiousness. Compared to both American NEO-FFI norms for adult females(1) and emerging British NEO-FFI norms for adult females,(2) the hospice volunteers scored significantly lower, on average, in neuroticism and significantly higher, on average, in agreeableness and conscientiousness. No significant differences were found on any of the 5 traits between the British female hospice volunteers' scores and the NEO-FFI scores previously collected from a sample of Canadian female hospice palliative care volunteers.(3) Implications for the recruitment of British hospice volunteers are discussed. PMID:23081997

Claxton-Oldfield, Stephen; Claxton-Oldfield, Jane; Paulovic, Stefan

2012-10-17

342

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

2013-10-09

343

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

2011-11-07

344

Successful restrained eating and trait impulsiveness.  

PubMed

Restrained eaters with high scores on the Perceived Self-Regulatory Success in Dieting Scale (PSRS) are more successful than low scorers in regulating their food intake. According to the theory of temptation-elicited goal activation (Fishbach, Friedman, & Kruglanski, 2003), they have become successful because, due to earlier repeated instances of successful self-control, they formed an associative link between temptations and thoughts of dieting. It is unclear, however, why they should have been more successful in earlier attempts at self-control than their unsuccessful counterparts. We examined whether trait impulsiveness plays a role by investigating the associations between dietary restraint, trait impulsiveness, and PSRS. Results showed that the interaction between dietary restraint and impulsiveness predicted dieting success: A lower level of impulsiveness was associated with greater dieting success among restrained eaters. These results suggest that restrained eaters who are less impulsive are more likely to become successful restrained eaters as identified with the PSRS. PMID:23017465

van Koningsbruggen, Guido M; Stroebe, Wolfgang; Aarts, Henk

2012-09-24

345

Inheritance of acquired traits in plants  

PubMed Central

Since Lamarck proposed the idea of inheritance of acquired traits 200 years ago, much has been said for and against it, but the theory was finally declined after the 1930s. Despite of the negative opinions of the majority of geneticists, botanists and plant breeders have long recognized that altered properties during the growth were occasionally transmitted to the offspring. This was also the case with artificially altered properties such as dwarfism, flowering timing and plant stature, which were induced by a non-mutagenic chemical, 5-azacytidine and its derivatives. As these drugs are powerful inhibitors of DNA methylation in vivo, a close correlation between methylation and phenotypic expression was suggested. Subsequent studies showed that rice plants acquired disease resistance upon demethylation of the corresponding resistant gene, and that both resistant trait and hypomethylated status were inherited by the progeny up to nine generations. Whether or not the methylation pattern changes under natural condition was then questioned, and recent studies have indicated that it indeed naturally changes in response to environmental stresses. Whether or not the altered methylation pattern during the vegetative growth is heritable was also questioned, and studies on toadflax and rice affirmed the question, showing stable maintenance of hypermethylation in the former and hypomethylation in the latter for 250 and 10 years, respectively. The observation strongly suggested that acquired traits can be heritable as far as the acquired methylation pattern is stably transmitted. This concept is consistent with the Lamarck's theory of the inheritance of acquired traits, which therefore should be carefully reevaluated to reestablish his impaired reputation.

2010-01-01

346

Personality Traits in the DSM–5  

Microsoft Academic Search

Recent advances in personality research coupled with a broad acknowledgment of the limitations of the representation of personality pathology in the third and fourth editions of the Diagnostic and Statistical Manual of Mental Disorders (DSM–III and DSM–IV) have positioned personality science to influence the shape of personality assessment in the fifth edition (DSM–5). Representing normative personality with well-validated traits that

Christopher J. Hopwood

2011-01-01

347

Studies on Fletcher trait and Fitzgerald trait. A rare chance to disclose body's defense reactions against injury.  

PubMed

The way by which contact of blood with foreign surface accelerates clotting has been elucidated from the discovery of four rare disorders of blood coagulation; Hageman trait, plasma thromboplastin antecedent (PTA) deficiency, Fletcher trait, and Fitzgerald trait. Interestingly, it was unexpectedly found that Fletcher factor is plasma prekallikrein and Fitzgerald factor is high-molecular-weight kininogen; components of the kinin-generating system, thus disclosing intimate relationships among clotting, fibrinolysis and kinin generation which may be viewed as body's defense reactions against injury. This review mainly reflects our research on Fletcher trait and Fitzgerald trait during the 1970s in Cleveland. PMID:20838736

Saito, Hidehiko

2010-09-13

348

Modelling the ecological niche from functional traits  

PubMed Central

The niche concept is central to ecology but is often depicted descriptively through observing associations between organisms and habitats. Here, we argue for the importance of mechanistically modelling niches based on functional traits of organisms and explore the possibilities for achieving this through the integration of three theoretical frameworks: biophysical ecology (BE), the geometric framework for nutrition (GF) and dynamic energy budget (DEB) models. These three frameworks are fundamentally based on the conservation laws of thermodynamics, describing energy and mass balance at the level of the individual and capturing the prodigious predictive power of the concepts of ‘homeostasis’ and ‘evolutionary fitness’. BE and the GF provide mechanistic multi-dimensional depictions of climatic and nutritional niches, respectively, providing a foundation for linking organismal traits (morphology, physiology, behaviour) with habitat characteristics. In turn, they provide driving inputs and cost functions for mass/energy allocation within the individual as determined by DEB models. We show how integration of the three frameworks permits calculation of activity constraints, vital rates (survival, development, growth, reproduction) and ultimately population growth rates and species distributions. When integrated with contemporary niche theory, functional trait niche models hold great promise for tackling major questions in ecology and evolutionary biology.

Kearney, Michael; Simpson, Stephen J.; Raubenheimer, David; Helmuth, Brian

2010-01-01

349

Analysis of psychopathological traits in psoriatic patients.  

PubMed

Psoriasis vulgaris is a multifactorial, heterogeneous disease that is associated with problems in skin image and feelings of shame and stigmatization. The aim of this study was to analyze psychopathological traits in patients with psoriasis and a comparative group. A total of 254 dermatological patients participated in the study: 124 patients with confirmed diagnoses of psoriasis vulgaris and 130 patients with melanocytic and non-melanocytic nevi on covered parts of the body. Psychometrically mensural and standardized instruments were used in the study: list of general data, appendix of disease data, Beck Depression Inventory test, State-Trait Anxiety Inventory, Measure of psychological stress and Eysenck's Personal Questionnaire. There is a significant statistical difference in the result of psychometric tests between the study groups. Patients with psoriasis have more severe symptoms of depression, more physical symptoms of anxiety and higher results on the anxiety scale as a state and as a trait p=0.000. Eysenck's personal questionnaire showed higher results on the psychoticism scale p=0.000 and lower results on the extraversion scale p=0.035 among psoriatic patients. PMID:23806969

Zeljko-Penavi?, Jasna; Situm, Mirna; Babi?, Dragan; Simi?, Dubravka

2013-06-01

350

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

2011-05-15

351

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

352

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

PubMed Central

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 production population. Methods One hundred and twenty-eight informative microsatellite loci distributed across all 29 linkage groups in Atlantic salmon were genotyped in individuals from four F2 families that were selected from the ends of the flesh colour distribution. Genotyping of 23 additional loci and two additional families was performed on a number of linkage groups harbouring putative QTL. QTL analysis was performed using a line-cross model assuming fixation of alternate QTL alleles and a half-sib model with no assumptions about the number and frequency of QTL alleles in the founder populations. Results A moderate to strong phenotypic correlation was found between colour, length and weight traits. In total, 13 genome-wide significant QTL were detected for all traits using the line-cross model, including three genome-wide significant QTL for flesh colour (Chr 6, Chr 26 and Chr 4). In addition, 32 suggestive QTL were detected (chromosome-wide P < 0.05). Using the half-sib model, six genome-wide significant QTL were detected for all traits, including two for flesh colour (Chr 26 and Chr 4) and 41 suggestive QTL were detected (chromosome-wide P < 0.05). Based on the half-sib analysis, these two genome-wide significant QTL for flesh colour explained 24% of the phenotypic variance for this trait. Conclusions A large number of significant and suggestive QTL for flesh colour and growth traits were found in an F2 population of Atlantic salmon. Chr 26 and Chr 4 presented the strongest evidence for significant QTL affecting flesh colour, while Chr 10, Chr 5, and Chr 4 presented the strongest evidence for significant QTL affecting growth traits (length and weight). These QTL could be strong candidates for use in marker-assisted selection and provide a starting point for further characterisation of the genetic components underlying flesh colour and growth.

2010-01-01

353

Quantitative analysis of production traits in saltwater crocodiles (Crocodylus porosus): I. reproduction traits.  

PubMed

Repeatability and phenotypic correlations were estimated for saltwater crocodile reproductive traits. No pedigree information was available to estimate heritability or genetic correlations, because the majority of breeder animals on farms were wild-caught. Moreover, as the age of the female breeders could not be accounted for, egg-size measurements were used as proxies. The reproductive traits investigated were clutch size (total number of eggs laid), number of viable eggs, number of eggs that produced a live, healthy hatchling, hatchability, average snout-vent length of the hatchlings and time of nesting. A second data set was also created comprising binary data of whether or not the female nested. Repeatability estimates ranged from 0.24 to 0.68 for the measurable traits, with phenotypic correlations ranging from -0.15 to 0.86. Repeatability for whether a female nested or not was 0.58 on the underlying scale. Correlations could not be estimated between the measurement and binary traits because of confounding. These estimates are the first published for crocodilian reproduction traits. PMID:16274419

Isberg, S R; Thomson, P C; Nicholas, F W; Barker, S G; Moran, C

2005-12-01

354

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

2005-05-26

355

Beta field development project  

SciTech Connect

This paper summarizes the design and construction of platforms, facilities and pipelines for the Beta field, offshore Southern California. The first phase of field development consisting of bridge-connected drilling platform Ellen and production platform Elly in 265 feet water has been completed and the field is on production. Design and siting of the platforms provided unusual challenges due to the steeply sloping bottom and the earthquake environment. Major components of the platforms were fabricated in widely scattered locations. The paper describes the unique project control and manganese techniques employed to keep the project on schedule and within budget.

Visser, R.C.

1981-01-01

356

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

357

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

358

Beta-Gamma Polarization Correlations  

Microsoft Academic Search

The polarization of the gamma ray emitted at an angle of 90 degrees to the preceding beta particle has been measured for certain beta-gamma cascades in potassium-42, arsenic-76, rubidium-86, antimony-124, and cesium-134, as selected by beta absorbers when necessary. The polarimeter was checked by observing the polarization of the gamma rays of cesium-137 and cobalt-60 when Compton-scattered through 90 degrees.

Donald R. Hamilton; Aaron Lemonick; Francis M. Pipkin

1953-01-01

359

Animal trait ontology: The importance and usefulness of a unified trait vocabulary for animal species  

PubMed Central

Ontologies help to identify and formally define the entities and relationships in specific domains of interest. Bio-ontologies, in particular, play a central role in the annotation, integration, analysis, and interpretation of biological data. Missing from the number of bio-ontologies is one that includes phenotypic trait information found in livestock species. As a result, the Animal Trait Ontology (ATO) project being carried out under the auspices of the USDA-National Animal Genome Research Program is aimed at the development of a standardized trait ontology for farm animals and software tools to assist the research community in collaborative creation, editing, maintenance, and use of such an ontology. The ATO is currently inclusive of cattle, pig, and chicken species, and will include other livestock species in the future. The ATO will eventually be linked to other species (e.g., human, rat, mouse) so that comparative analysis can be efficiently performed between species.

Hughes, L. M.; Bao, J.; Hu, Z.-L.; Honavar, V.; Reecy, J. M.

2008-01-01

360

A soluble transforming growth factor-beta (TGF-beta ) type I receptor mimics TGF-beta responses.  

PubMed

Transforming growth factor-beta (TGF-beta) signaling requires a ligand-dependent interaction of TGF-beta receptors Tau beta R-I and Tau beta R-II. It has been previously demonstrated that a soluble TGF-beta type II receptor could be used as a TGF-beta antagonist. Here we have generated and investigated the biochemical and signaling properties of a soluble TGF-beta type I receptor (Tau beta RIs-Fc). As reported for the wild-type receptor, the soluble Tau beta R-I does not bind TGF-beta 1 on its own. Surprisingly, in the absence of TGF-beta1, the Tau beta RIs-Fc mimicked TGF-beta 1-induced transcriptional and growth responses in mink lung epithelial cells (Mv1Lu). Signaling induced by the soluble TGF-beta type I receptor is mediated via the obligatory presence of both TGF-beta type I and type II receptors at the cell surface since no signal was observed in Mv1Lu-derivated mutants for TGF-beta receptors R-1B and DR-26. The comparison between the structures of TGF-betas and a three-dimensional model of the extracellular domain of Tau beta RI has shown that five residues of the supposed binding site of TGF-beta 1 (Lys(31), His(34), Glu(5), Tyr(91), and Lys(94)) were found with equivalent biochemical properties and similar spatial positions. PMID:11544249

Docagne, F; Colloc'h, N; Bougueret, V; Page, M; Paput, J; Tripier, M; Dutartre, P; MacKenzie, E T; Buisson, A; Komesli, S; Vivien, D

2001-12-01

361

Scintillator based beta batteries  

NASA Astrophysics Data System (ADS)

Some long-term, remote applications do not have access to conventional harvestable energy in the form of solar radiation (or other ambient light), wind, environmental vibration, or wave motion. Radiation Monitoring Devices, Inc. (RMD) is carrying out research to address the most challenging applications that need power for many months or years and which have undependable or no access to environmental energy. Radioisotopes are an attractive candidate for this energy source, as they can offer a very high energy density combined with a long lifetime. Both large scale nuclear power plants and radiothermal generators are based on converting nuclear energy to heat, but do not scale well to small sizes. Furthermore, thermo-mechanical power plants depend on moving parts, and RTG's suffer from low efficiency. To address the need for compact nuclear power devices, RMD is developing a novel beta battery, in which the beta emissions from a radioisotope are converted to visible light in a scintillator and then the visible light is converted to electrical power in a photodiode. By incorporating 90Sr into the scintillator SrI2 and coupling the material to a wavelength-matched solar cell, we will create a scalable, compact power source capable of supplying milliwatts to several watts of power over a period of up to 30 years. We will present the latest results of radiation damage studies and materials processing development efforts, and discuss how these factors interact to set the operating life and energy density of the device.

Rensing, Noa M.; Tiernan, Timothy C.; Shirwadkar, Urmila; O'Dougherty, Patrick; Freed, Sara; Hawrami, Rastgo; Squillante, Michael R.

2013-05-01

362

Ubiquitous Polygenicity of Human Complex Traits: Genome-Wide Analysis of 49 Traits in Koreans  

PubMed Central

Recent studies in population of European ancestry have shown that 30%?50% of heritability for human complex traits such as height and body mass index, and common diseases such as schizophrenia and rheumatoid arthritis, can be captured by common SNPs and that genetic variation attributed to chromosomes are in proportion to their length. Using genome-wide estimation and partitioning approaches, we analysed 49 human quantitative traits, many of which are relevant to human diseases, in 7,170 unrelated Korean individuals genotyped on 326,262 SNPs. For 43 of the 49 traits, we estimated a nominally significant (P<0.05) proportion of variance explained by all SNPs on the Affymetrix 5.0 genotyping array (). On average across 47 of the 49 traits for which the estimate of is non-zero, common SNPs explain approximately one-third (range of 7.8% to 76.8%) of narrow sense heritability. The estimate of is highly correlated with the proportion of SNPs with association P<0.031 (r2?=?0.92). Longer genomic segments tend to explain more phenotypic variation, with a correlation of 0.78 between the estimate of variance explained by individual chromosomes and their physical length, and 1% of the genome explains approximately 1% of the genetic variance. Despite the fact that there are a few SNPs with large effects for some traits, these results suggest that polygenicity is ubiquitous for most human complex traits and that a substantial proportion of the “missing heritability” is captured by common SNPs.

Cho, Myeong-Chan; Han, Bok-Ghee; Lee, Jong-Young; Lee, Hyun-Jeong; Cho, Seoae; Kim, Heebal

2013-01-01

363

Xenon Time Projection Chamber for beta beta Decay.  

National Technical Information Service (NTIS)

The design of a Time Projection Chamber (TPC) fulled with Xe at high pressure is described. The aim of the project is to measure the neutrinoless beta beta / decay of /sup 136/Xe at the level of 10/sup 23/ years. Guidelines for the choices operated in the...

E. Bellotti O. Cremonesi E. Fiorini C. Liguori S. Ragazzi

1983-01-01

364

Novel SNPs in the ATP1B2 gene and their associations with milk yield, milk composition and heat-resistance traits in Chinese Holstein cows  

Microsoft Academic Search

Genetic association analysis was applied to examine the effect of the Na+\\/K+-ATPase beta 2 subunit (ATP1B2) gene on rectal temperature, milk traits, K+ levels and Na+\\/K+-ATPase (NKA) activity in the red blood cells of 1001 Chinese Holstein cows under normal and heat-stress conditions. We detected\\u000a two novel single nucleotide polymorphisms, G2258A and C2833T, in the second and fourth introns, respectively,

Zeying Wang; Genlin Wang; Jingmin Huang; Qiuling Li; Changfa Wang; Jifeng Zhong

2011-01-01

365

Accuracy of multi-trait genomic selection using different methods  

PubMed Central

Background Genomic selection has become a very important tool in animal genetics and is rapidly emerging in plant genetics. It holds the promise to be particularly beneficial to select for traits that are difficult or expensive to measure, such as traits that are measured in one environment and selected for in another environment. The objective of this paper was to develop three models that would permit multi-trait genomic selection by combining scarcely recorded traits with genetically correlated indicator traits, and to compare their performance to single-trait models, using simulated datasets. Methods Three (SNP) Single Nucleotide Polymorphism based models were used. Model G and BC?0 assumed that contributed (co)variances of all SNP are equal. Model BSSVS sampled SNP effects from a distribution with large (or small) effects to model SNP that are (or not) associated with a quantitative trait locus. For reasons of comparison, model A including pedigree but not SNP information was fitted as well. Results In terms of accuracies for animals without phenotypes, the models generally ranked as follows: BSSVS > BC?0 > G > > A. Using multi-trait SNP-based models, the accuracy for juvenile animals without any phenotypes increased up to 0.10. For animals with phenotypes on an indicator trait only, accuracy increased up to 0.03 and 0.14, for genetic correlations with the evaluated trait of 0.25 and 0.75, respectively. Conclusions When the indicator trait had a genetic correlation lower than 0.5 with the trait of interest in our simulated data, the accuracy was higher if genotypes rather than phenotypes were obtained for the indicator trait. However, when genetic correlations were higher than 0.5, using an indicator trait led to higher accuracies for selection candidates. For different combinations of traits, the level of genetic correlation below which genotyping selection candidates is more effective than obtaining phenotypes for an indicator trait, needs to be derived considering at least the heritabilities and the numbers of animals recorded for the traits involved.

2011-01-01

366

Juvenile hormone mediates developmental integration between exaggerated traits and supportive traits in the horned flour beetle Gnatocerus cornutus.  

PubMed

Sexually selected exaggerated traits are often coupled with modifications in other nontarget traits. In insects with weapons, enlargements of nontarget characters that functionally support the weapon often occur (i.e. supportive traits). The support of sexual traits requires developmental coordination among functionally related multiple traits-an explicit example of morphological integration. The genetic theory predicts that developmental integration among different body modules, for which development is regulated via different sets of genes, is likely to be coordinated by pleiotropic factors. However, the developmental backgrounds of morphological integrations are largely unknown. We tested the hypothesis that the juvenile hormone (JH), as a pleiotropic factor, mediates the integration between exaggerated and supportive traits in an armed beetle Gnatocerus cornutus. During combat, males of this beetle use exaggerated mandibles to lift up their opponents with the supportive traits, that is, the head and prothoracic body parts. Application of methoprene, a JH analog (JHA), during the larval to prepupal period, induced the formation of large mandibles relative to the body sizes in males. Morphometric examination of nontarget traits elucidated an increase in the relative sizes of supportive traits, including the head and prothoracic body parts. In addition, reductions in the hind wing area and elytra length, which correspond to flight and reproductive abilities, were detected. Our findings are consistent with the genetic theory and support the idea that JH is a key pleiotropic factor that coordinates the developmental integration of exaggerated traits and supportive characters, as well as resource allocation trade-offs. PMID:22765207

Okada, Yasukazu; Gotoh, Hiroki; Miura, Toru; Miyatake, Takahisa; Okada, Kensuke

2012-07-01

367

Lack of significant association between ?1021C?T polymorphism in the dopamine beta hydroxylase gene and attention deficit hyperactivity disorder  

Microsoft Academic Search

Recent trends in medications for attention deficit hyperactivity disorder (ADHD) suggest that norepinephrine (NE) deficiency may contribute to the disease etiology. Dopamine beta hydroxylase (DBH) is the key enzyme which converts dopamine to NE and since DBH gene is considered a major quantitative trait locus for plasma DBH activity, genetic polymorphism may lead to altered NE neurotransmission. Several polymorphisms including

Nipa Bhaduri; Kanchan Mukhopadhyay

2006-01-01

368

Variation and selection of quantitative traits in plant pathogens.  

PubMed

The first section presents the quantitative traits of pathogenicity that are most commonly measured by plant pathologists, how the expression of those traits is influenced by environmental factors, and why the traits must be taken into account for understanding pathogen evolution in agricultural systems. Particular attention is given to the shared genetic control of these traits by the host and the pathogen. Next, the review discusses how quantitative traits account for epidemic development and how they can be related to pathogen fitness. The main constraints that influence the evolution of quantitative traits in pathogen populations are detailed. Finally, possible directions for research on the management of pathogen virulence (as defined by evolutionists) and host quantitative resistance are presented. The review evaluates how the theoretical corpus developed by epidemiologists and evolutionists may apply to plant pathogens in the context of agriculture. The review also analyzes theoretical papers and compares the modeling hypotheses to the biological characteristics of plant pathogens. PMID:22702351

Lannou, Christian

2012-06-11

369

Heterosis Is Prevalent for Multiple Traits in Diverse Maize Germplasm  

PubMed Central

Background Heterosis describes the superior phenotypes observed in hybrids relative to their inbred parents. Maize is a model system for studying heterosis due to the high levels of yield heterosis and commercial use of hybrids. Methods The inbred lines from an association mapping panel were crossed to a common inbred line, B73, to generate nearly 300 hybrid genotypes. Heterosis was evaluated for seventeen phenotypic traits in multiple environments. The majority of hybrids exhibit better-parent heterosis in most of the hybrids measured. Correlations between the levels of heterosis for different traits were generally weak, suggesting that the genetic basis of heterosis is trait-dependent. Conclusions The ability to predict heterosis levels using inbred phenotype or genetic distance between the parents varied for the different traits. For some traits it is possible to explain a significant proportion of the heterosis variation using linear modeling while other traits are more difficult to predict.

Flint-Garcia, Sherry A.; Buckler, Edward S.; Tiffin, Peter; Ersoz, Elhan; Springer, Nathan M.

2009-01-01

370

First impressions: gait cues drive reliable trait judgements.  

PubMed

Personality trait attribution can underpin important social decisions and yet requires little effort; even a brief exposure to a photograph can generate lasting impressions. Body movement is a channel readily available to observers and allows judgements to be made when facial and body appearances are less visible; e.g., from great distances. Across three studies, we assessed the reliability of trait judgements of point-light walkers and identified motion-related visual cues driving observers' judgements. The findings confirm that observers make reliable, albeit inaccurate, trait judgements, and these were linked to a small number of motion components derived from a Principal Component Analysis of the motion data. Parametric manipulation of the motion components linearly affected trait ratings, providing strong evidence that the visual cues captured by these components drive observers' trait judgements. Subsequent analyses suggest that reliability of trait ratings was driven by impressions of emotion, attractiveness and masculinity. PMID:22717166

Thoresen, John C; Vuong, Quoc C; Atkinson, Anthony P

2012-06-18

371

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

372

Beta decay of the neutron  

Microsoft Academic Search

A review is given of experimental studies of the beta decay of the free neutron carried out up to the present time. Data are given on the beta spectrum, half-life, and all four possible angular correlations in the decay of polarized neutrons. The features of the experimental apparatus are considered, and the main problems in the experimental technique of the

B G Erozolimski?

1975-01-01

373

Nuclear beta-decay. II  

Microsoft Academic Search

A general expression for the beta-decay transition amplitude is evaluated, using the decomposition of the nuclear current matrix element into beta-decay form factors as obtained in the previous paper. For the electron radial wave functions the finite nuclear size is taken into account. Formulas for the spectrum shape factor and the polarisation are calculated.

Lothar Schülke

1964-01-01

374

Bremsstrahlung from tritium beta decay  

Microsoft Academic Search

Both external and internal bremsstrahlung produced in the beta decay of tritium and of tritium-rare gas mixtures have been investigated. The ratio of external to internal bremsstrahlung varied for the different sources by more than two orders of magnitude. From an analysis of the shape of the x-ray spectrum, the maximum kinetic energy of electrons emitted in the beta decay

B. Budick; Jiansheng Chen; Hong Lin

1992-01-01

375

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

376

Extension of Euler's beta function  

Microsoft Academic Search

An extension of Euler's beta function, analogous to the recent generalization of Euler's gamma function and Riemann's zeta function, for which the usual properties and representation are naturally and simply extended, is introduced. It is proved that the extension is connected to the Macdonald, error and Whittaker functions. In addition, the extended beta distribution is introduced.

M. Aslam Chaudhry; Asghar Qadir; M. Rafique; S. M. Zubair

1997-01-01

377

BETA GLUCAN IN PROBIOTIC FOODS  

Technology Transfer Automated Retrieval System (TEKTRAN)

As the probiotic foods are gaining popularity, consumption of yogurt is on the rise. Yogurt is rich in vitamins and minerals but is a poor source of fiber. Beta glucan hydrocolloids from oat bran (C-trim30) contain 32% beta-glucan, and 14% protein. Milk solids in the fluid were adjusted with the...

378

Assortative mating for anthropometric traits in parents of Punjabi twins  

Microsoft Academic Search

The marital correlations between 97 pairs of parents of Punjabi twins reveal positive phenotypic assortative mating for body\\u000a traits while almost random mating with respect to cranio-facial traits. There is no evidence of any significant negative assortative\\u000a mating for any of the 50 traits. The results have been compared with those from other world populations. The data contradict\\u000a the earlier

K. Sharma

1986-01-01

379

Local versus regional intraspecific variability in regeneration traits.  

PubMed

Intraspecific trait variability has a fundamental contribution to the overall trait variability. However, little is known concerning the relative role of local (e.g. disturbances and species interaction) and regional (biogeographical) processes in generating this intraspecific trait variability. While biogeographical processes enhance plant trait variability between distant populations, in fire-prone ecosystems, recurrent fires may have a preponderant role in generating variability at a local scale. We hypothesize that plants respond to the local spatio-temporal heterogeneity generated by fire by having a relatively large local variability in regeneration traits in such a way that overrides the variability at a broader biogeographical scale. We test this hypothesis by assessing the intraspecific variability in fire-related regeneration traits of two species (Cistus salviifolius and Lavandula stoechas) growing in fire-prone ecosystems of the Mediterranean Basin. For each species, we selected six populations in two distant regions, three in the east (Anatolian Peninsula) and three in the west (Iberian Peninsula). For each species and population, we analysed the following regeneration traits: seed size, seed dormancy and stimulated germination by fire-related cues (heat and smoke). To evaluate the distribution of the variability in these traits, we decomposed the variability of trait values at each level, between regions (regional) and between population within region (local), using linear mixed-effect models. Despite the biogeographical and climatic differences between regions, for the two species, intraspecific variability in regeneration traits was higher at a local (within regions) than at a regional scale (between regions). Our results suggest that, in Mediterranean ecosystems, fire is an important source of intraspecific variability in regeneration traits. This supports the prominent role of fire as an ecological and evolutionary process, producing trait variability and shaping biodiversity in fire-prone ecosystems. PMID:21935664

Moreira, B; Tavsanoglu, C; Pausas, J G

2011-09-21

380

Alternate Forms of the State-Trait Anxiety Inventory  

Microsoft Academic Search

Alternate forms of the state anxiety (A-State) and trait anxiety (A-Trait) scales of the State-Trait Anxiety Inventory (STAI) were constructed by dividing the 20 items of each scale into two briefer forms having 10 items each. The alternate forms were equated according to several criteria including item mean scores and itemremainder correlation coefficients. For the A-State scale, the item statistics

Anthony J. Devito; Joseph F. Kubis

1983-01-01

381

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

382

Status and the Gender Stereotyped Personality Traits: Toward an Integration  

Microsoft Academic Search

This paper integrates research findings on status and the gender stereotyped personality traits and examines the extent to\\u000a which women’s lower status than men can account for two components of gender stereotyping in the United States: the belief\\u000a that women and men have different personality traits and the differences in men’s and women’s perceptions of their own personality\\u000a traits. In

Gwendolyn L. Gerber

2009-01-01

383

Children's Use of Trait Information in Understanding Verbal Irony  

Microsoft Academic Search

We investigated whether providing information about a speaker's personality traits would influence children's interpretations and processing of verbal irony. In Experi- ment 1, 5- to 6-year-olds demonstrated strong understanding of personality traits and limited understanding of ironic remarks when the two were tested independently. In Experiment 2, 5- to 8-year-old children were provided with trait information about the speaker that

Penny M. Pexman; Melanie Glenwright; Suzanne Hala; Stacey L. Kowbel; Sara Jungen

2006-01-01

384

Trait anxiety and measures of religiosity in four cultural settings  

Microsoft Academic Search

Several measures of religious practice and religious orientation (intrinsic\\/extrinsic\\/quest) and the trait form of the State-Trait Anxiety Inventory were employed in a survey of undergraduate university students from four different cultural environments: Bosnia and Herzegovina, Serbia, Slovenia, and the USA. The results suggest that (1) the relationship between trait anxiety and religiosity substantially varies between these samples; (2) the relationship

Miran Lavri?; Sergej Flere

2010-01-01

385

Evaluation of two Indian native chicken breeds for reproduction traits and heritability of juvenile growth traits.  

PubMed

The present study was conducted to evaluate two Indian native chicken breeds, namely, Aseel and Kadaknath for fertility, hatchability, genetic parameters of juvenile growth traits, and semen quality traits at the onset of sexual maturity. The fertility was similar in Aseel (86.96%) and Kadaknath (85.15%); however, a relatively higher hatchability was observed in Kadaknath (77.94%) than Aseel (70.74%). Heritability estimates of body weights at 4 weeks of age were almost similar in Aseel (0.37) and Kadaknath (0.39), while the estimate of body weight at 6 weeks of age was higher in Aseel (0.42) than Kadaknath (0.31). The heritability estimate of shank length at 6 weeks of age was lower in Aseel (0.16) compared to Kadaknath (0.35). The age at first egg in the flock was comparable in Aseel (148 days) and Kadaknath (150 days). Aseel breed with significantly (P ? 0.001) higher body weight, absolute and relative testes weights had significantly higher semen volume (P ? 0.05) and sperm motility (P ? 0.01) but had lower seminal plasma cholesterol level (P ? 0.05) as compared to Kadaknath. It can be concluded that there is a scope for genetic improvement of these two native breeds for juvenile growth traits since heritability estimates of these traits were relatively high. PMID:22068634

Haunshi, Santosh; Shanmugam, Murugesan; Padhi, Mahendra Kumar; Niranjan, Matam; Rajkumar, Ullengala; Reddy, Maddula Ramakoti; Panda, Arun Kumar

2011-11-09

386

Explaining the heritability of an ecologically significant trait in terms of individual quantitative trait loci  

PubMed Central

Most natural populations display substantial genetic variation in behaviour, morphology, physiology, life history and the susceptibility to disease. A major challenge is to determine the contributions of individual loci to variation in complex traits. Quantitative trait locus (QTL) mapping has identified genomic regions affecting ecologically significant traits of many species. In nearly all cases, however, the importance of these QTLs to population variation remains unclear. In this paper, we apply a novel experimental method to parse the genetic variance of floral traits of the annual plant Mimulus guttatus into contributions of individual QTLs. We first use QTL-mapping to identify nine loci and then conduct a population-based breeding experiment to estimate VQ, the genetic variance attributable to each QTL. We find that three QTLs with moderate effects explain up to one-third of the genetic variance in the natural population. Variation at these loci is probably maintained by some form of balancing selection. Notably, the largest effect QTLs were relatively minor in their contribution to heritability.

Scoville, Alison G.; Lee, Young Wha; Willis, John H.; Kelly, John K.

2011-01-01

387

Explaining the heritability of an ecologically significant trait in terms of individual quantitative trait loci.  

PubMed

Most natural populations display substantial genetic variation in behaviour, morphology, physiology, life history and the susceptibility to disease. A major challenge is to determine the contributions of individual loci to variation in complex traits. Quantitative trait locus (QTL) mapping has identified genomic regions affecting ecologically significant traits of many species. In nearly all cases, however, the importance of these QTLs to population variation remains unclear. In this paper, we apply a novel experimental method to parse the genetic variance of floral traits of the annual plant Mimulus guttatus into contributions of individual QTLs. We first use QTL-mapping to identify nine loci and then conduct a population-based breeding experiment to estimate V(Q), the genetic variance attributable to each QTL. We find that three QTLs with moderate effects explain up to one-third of the genetic variance in the natural population. Variation at these loci is probably maintained by some form of balancing selection. Notably, the largest effect QTLs were relatively minor in their contribution to heritability. PMID:21653565

Scoville, Alison G; Lee, Young Wha; Willis, John H; Kelly, John K

2011-06-08

388

Assessment of Trait and State Aspects of Depression in Schizophrenia.  

PubMed

Depression and negative symptoms can be difficult to distinguish in schizophrenia. Assessments for negative symptoms usually account for the longitudinal nature of these symptoms, whereas instruments available to measure depression mainly assess current or recent symptoms. This construct difference may confound comparison of depressive and negative symptoms in schizophrenia because both domains may have trait-like aspects. We developed an instrument to measure both longitudinal "trait" as well as recent "state" symptoms of depression and tested this instrument (Maryland Trait and State Depression [MTSD] scale) in a sample of 98 individuals with schizophrenia or schizoaffective disorder and 115 community participants without psychotic illness. Exploratory factor analysis of the MTSD revealed 2 factors accounting for 73.4% of the variance; these 2 factors corresponded with "trait" and "state" depression inventory items. Neither MTSD-state nor MTSD-trait was correlated with negative symptoms as measured with the Brief Negative Symptom Scale (r = .07 and -.06, respectively) in schizophrenia patients. MTSD state and trait scores were significantly correlated with the Brief Psychiatric Rating Scale depression subscale (r = .58 and .53, respectively) as well as the Profile of Mood States depression subscale (r = .57 and .44). Persons with schizophrenia had significantly greater trait depressive symptoms than controls (P = .031). Individuals with schizoaffective disorder had significantly higher trait depression (P = .001), but not state depression (P = .146), compared with schizophrenia patients. Trait depressive symptoms are prominent in schizophrenia and are distinct from negative symptoms. PMID:23686021

Chiappelli, Joshua; Nugent, Katie L; Thangavelu, Kavita; Searcy, Katherine; Hong, L Elliot

2013-05-17

389

Why intraspecific trait variation matters in community ecology  

PubMed Central

Natural populations consist of phenotypically diverse individuals that exhibit variation in their demographic parameters and intra- and interspecific interactions. Recent experimental work suggests that such variation can have significant ecological effects. However, ecological models typically disregard this variation and focus instead on trait means and total population density. Under what situations is this simplification appropriate? Why might intraspecific variation alter ecological dynamics? In this review, we synthesize recent theory, identifying six general mechanisms by which trait variation changes the outcome of ecological interactions. These include several direct effects of trait variation per se, and indirect effects arising from genetic variation’s role in trait evolution.

Bolnick, Daniel I.; Amarasekare, Priyanga; Araujo, Marcio S.; Burger, Reinhard; Levine, Jonathan M.; Novak, Mark; Rudolf, Volker H.W.; Schreiber, Sebastian J.; Urban, Mark C.; Vasseur, David

2011-01-01

390

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

2012-09-04

391

Bayesian analysis for genetic architecture of dynamic traits.  

PubMed

The dissection of the genetic architecture of quantitative traits, including the number and locations of quantitative trait loci (QTL) and their main and epistatic effects, has been an important topic in current QTL mapping. We extend the Bayesian model selection framework for mapping multiple epistatic QTL affecting continuous traits to dynamic traits in experimental crosses. The extension inherits the efficiency of Bayesian model selection and the flexibility of the Legendre polynomial model fitting to the change in genetic and environmental effects with time. We illustrate the proposed method by simultaneously detecting the main and epistatic QTLs for the growth of leaf age in a doubled-haploid population of rice. The behavior and performance of the method are also shown by computer simulation experiments. The results show that our method can more quickly identify interacting QTLs for dynamic traits in the models with many numbers of genetic effects, enhancing our understanding of genetic architecture for dynamic traits. Our proposed method can be treated as a general form of mapping QTL for continuous quantitative traits, being easier to extend to multiple traits and to a single trait with repeat records. PMID:20332806

Min, L; Yang, R; Wang, X; Wang, B

2010-03-24

392

The beta 1 hyperselectivity in beta-blocker treatment.  

PubMed

Coronary heart disease (CHD) is the most common cause of death in Western industrialized countries. CHD is more common in individuals with clustering of coronary risk factors, e.g., hypertension and blood lipid abnormalities. There is a good rationale for the use of beta-blockers for prevention of myocardial infarction (MI) in high-risk groups, as beta-blockade decreases myocardial oxygen consumption and, by decreasing turbulent blood flow patterns, reduces endothelial shear forces, thus making plaque rupture (and the ensuing thrombotic events) less likely. Clinical trial data have shown beta-blockade to be effective in the prevention of cardiovascular end points. In both younger and older hypertensive patients there is a significant reduction in the incidence of stroke and in younger hypertensive patients there is about a 15% reduction in MI. Left ventricular hypertrophy (particularly by ECG) is significantly diminished. In secondary prevention of MI there is about 15% reduction after early and 25-30% reduction after late intervention with beta-blockers given post-MI. In both stable and unstable angina, beta-blockade appears to be beneficial not only in improvement of symptoms but also in prevention of hard cardiovascular end points. There are also promising data suggesting that beta-blockade is useful in endothelial protection and atheroma prevention, and benefits patients with hypertrophic cardiomyopathy and heart failure. beta-Blockers have evolved from early nonselective agents, e.g., propranolol, to modern highly beta 1-selective agents, e.g., bisoprolol. beta 1-Blockade is the essential element that leads to the above cardiovascular benefits in addition to improving the quality of life (similar to angiotensin-converting enzyme inhibitors). PMID:7752668

Cruickshank, J M

1995-01-01

393

Pulmonary function test in transfusion-dependent beta-thalassemia patients.  

PubMed

Beta-thalassaemia is the most common hemoglobinopathies in our region with treatment of regular blood transfusion. Iron overload and hemosiderosis can cause organ involvement. Recent studies have focused on pulmonary involvement and pathophysiology of lung damage. The goal of this study was to investigate the pulmonary abnormalities in thalassemic patients in relation with sign and symptoms and iron overload. The authors studied pulmonary function test (PFT) at the Adult Thalassemia Clinic in Tehran. The history of blood transfusion, iron chelation, respiratory problems, and drug usage was taken. Physical examination, PFT, arterial blood gas (ABG), and chest X-ray (CXR) were done. In total, 139 patients were studied. The mean age was 21.1 years and mean duration of transfusion was 18 years. It was found that 133 patients (95.7%) did not have respiratory problems and only 6 (4.3%) had some respiratory complaints. In CXR, 100 patients (89.3%) had normal lung pattern and others (10.7%) had variable degrees of abnormal lung pattern. In ABG, mean of Po(2) was 73.5% and mean of O(2) saturation was 90.6%. In PFT, 101 patients (72.7%) had restrictive pattern, 35 (25.1%) had normal pattern, and 3 (2.2%) had combined pattern. According to vital capacity, the patients were placed in five categories: 54 patients (38.8%) normal, 37 (26.6%) mild, 35 (25.3%) moderate, 10 (7.2%) severe, and 3 (2.1%) extremely severe pulmonary deficit. There was no statistical significance between PFT results with all variables studied, except duration of blood transfusion, which may be considered a indirect effect of iron load (p = .05, r = .361). According to these results, restrictive pattern was the most common finding (72.7%) in PFT, while 95.7% of patients had no respiratory complaint, and in the chest X-ray group, 89.3% had normal pattern. The authors conclude that the lung may be considered a site for organ damage, and alteration of pulmonary function may be expected in transfusion-dependent patients in spite of no pulmonary symptoms or normal CXR. In recent years, because of new iron chelating drugs, doctors can expect thalassemic patients to have a long life-time and need to increase their quality of life. One way to do this is to evaluate the respiratory system by PFT to prevent the squeal of pulmonary disease. PMID:18728979

Azarkeivan, Azita; Mehrvar, Azim; Pour, Hamid Sohrab; Mehrvar, Narjes; Vosough, Parvaneh

2008-09-01

394

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

395

Bayesian LASSO for quantitative trait loci mapping.  

PubMed

The mapping of quantitative trait loci (QTL) is to identify molecular markers or genomic loci that influence the variation of complex traits. The problem is complicated by the facts that QTL data usually contain a large number of markers across the entire genome and most of them have little or no effect on the phenotype. In this article, we propose several Bayesian hierarchical models for mapping multiple QTL that simultaneously fit and estimate all possible genetic effects associated with all markers. The proposed models use prior distributions for the genetic effects that are scale mixtures of normal distributions with mean zero and variances distributed to give each effect a high probability of being near zero. We consider two types of priors for the variances, exponential and scaled inverse-chi(2) distributions, which result in a Bayesian version of the popular least absolute shrinkage and selection operator (LASSO) model and the well-known Student's t model, respectively. Unlike most applications where fixed values are preset for hyperparameters in the priors, we treat all hyperparameters as unknowns and estimate them along with other parameters. Markov chain Monte Carlo (MCMC) algorithms are developed to simulate the parameters from the posteriors. The methods are illustrated using well-known barley data. PMID:18505874

Yi, Nengjun; Xu, Shizhong

2008-05-27

396

Beyond Missing Heritability: Prediction of Complex Traits  

PubMed Central

Despite rapid advances in genomic technology, our ability to account for phenotypic variation using genetic information remains limited for many traits. This has unfortunately resulted in limited application of genetic data towards preventive and personalized medicine, one of the primary impetuses of genome-wide association studies. Recently, a large proportion of the “missing heritability” for human height was statistically explained by modeling thousands of single nucleotide polymorphisms concurrently. However, it is currently unclear how gains in explained genetic variance will translate to the prediction of yet-to-be observed phenotypes. Using data from the Framingham Heart Study, we explore the genomic prediction of human height in training and validation samples while varying the statistical approach used, the number of SNPs included in the model, the validation scheme, and the number of subjects used to train the model. In our training datasets, we are able to explain a large proportion of the variation in height (h2 up to 0.83, R2 up to 0.96). However, the proportion of variance accounted for in validation samples is much smaller (ranging from 0.15 to 0.36 depending on the degree of familial information used in the training dataset). While such R2 values vastly exceed what has been previously reported using a reduced number of pre-selected markers (<0.10), given the heritability of the trait (?0.80), substantial room for improvement remains.

Makowsky, Robert; Pajewski, Nicholas M.; Klimentidis, Yann C.; Vazquez, Ana I.; Duarte, Christine W.; Allison, David B.; de los Campos, Gustavo

2011-01-01

397

Borderline personality traits in nonclinical young adults.  

PubMed

The main purpose of this study was to explore the dimensionality of the borderline personality disorder in nonclinical young adults by means of the Borderline Personality Questionnaire (BPQ; Poreh et al., 2006). We also studied the phenotypic expression of the borderline personality traits as a function of participants' gender and age, and the relationship between BPQ subscales and measures of depressive symptoms, anxiety, stress, hallucinatory predisposition, and paranoid ideation. The sample comprised 809 young adults, 562 (69.5%) were women, with a mean age of 20.2 years (SD = 2.9). The results indicate that the BPQ self-report has adequate psychometric properties. The levels of internal consistency for the BPQ subscales ranged between .78 and .93. Analysis of the internal structure of the BPQ subscales yielded a one-dimensional solution. In contrast, second-order principal components analysis at the item level yielded a five-dimensional solution. Likewise, statistically significant differences in the mean scores of the borderline personality traits as a function of participants' gender and age were found. The BPQ subscales correlated significantly with measures of depression, anxiety, stress, paranoid ideation, and hallucinatory predisposition. These results help to improve our understanding of the dimensional structure of the borderline personality in the general population. Future research should continue to identify participants who are at risk for the development of borderline personality disorder and facilitating the development of early detection and prevention programs. PMID:21838568

Fonseca-Pedrero, Eduardo; Paino, Mercedes; Lemos-Giráldez, Serafín; Sierra-Baigrie, Susana; González, Maria Paz García-Portilla; Bobes, Julio; Mu?iz, José

2011-08-01

398

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

399

High Resolution QTL Maps Of 31 Traits in Contemporary U.S. Holstein Cows  

Technology Transfer Automated Retrieval System (TEKTRAN)

High-resolution QTL maps of 1586 SNPs affecting 31 dairy traits (top 100 effects per trait)were constructed based on a genome-wide association analysis of 1,654 contemporary U.S. Holstein cows genotyped with 45,878 SNPs. The 31 traits include net merit and its 8 compnent traits, 4 calving traits, an...

400

Genetic parameters for fitness and neonatal behavior traits in sheep.  

PubMed

Poor neonatal survival constrains productivity and good welfare. The heritability of survival in sheep is very low, suggesting that genetic progress will be slow. Previously we have shown that a difficult birth and low neonatal lamb vigor are important predictors of future survival. In this study we investigated the heritability of these traits, and their relationship to production traits, as an alternative indirect route to improve lamb survival. Neonatal lamb data from 11,092 animals were collected over 2 years from 290 commercial sheep flocks, using previously developed methods to rapidly assess three traits (birth assistance, lamb vigor, sucking ability) on farm. Heritabilities for neonatal traits were moderate: birth assistance (mean ± standard error; 0.26 ± 0.03), lamb vigor (0.40 ± 0.04) and sucking ability (0.32 ± 0.03). Genetic correlations between neonatal traits were moderate to high, and positive. Heritabilities for production traits were also moderate: 8-week weight (0.27 ± 0.06), 20-week weight (0.39 ± 0.07), ultrasound muscle depth (0.37 ± 0.06). Genetic and phenotypic correlations between the neonatal traits and production traits were not significantly different from zero. However, lambs that were scored as of poor vigor at birth were less likely to be recorded at 8 or 20 weeks, indicating that they may have died. The data demonstrate that the neonatal survival traits of birth assistance, lamb vigor and sucking assistance are moderately heritable when treated as a lamb trait, indicating that selection to target these lamb traits would successfully, and efficiently, improve survival without influencing productivity. PMID:23053733

Matheson, S M; Bünger, L; Dwyer, C M

2012-09-15

401

0{nu}{beta}{beta}: The experimental challenge  

SciTech Connect

This paper describes the main experimental issues related to neutrinoless double beta decay searches. It discusses, although briefly, the past, present and future of this exciting, fundamental but extremely complex field of research.

Ferroni, Fernando [Sapienza Universita' and INFN Sezione di Roma, Roma I-00185 (Italy)

2010-11-24

402

Asthma and beta-blockers.  

PubMed

In a randomized, blind crossover study in 14 hypertensive patients with asthma, involving placebo and chronically administered (3 weeks) equipotent beta1-blocking doses of atenolol 100 mg once daily and metoprolol 100 mg bid, atenolol and metoprolol produced a similar fall in blood pressure. Atenolol caused significantly (p less than 0.05) less bronchospasm in terms of fewer asthmatic attacks, more asthma-free days, less frequent sensations of moderate to very severe, wheeziness and less effect on the evening peak flow rate. It was concluded that, in patients with asthma who require beta blockade, atenolol is the preferred agent, co-prescribed with a beta2 stimulant. PMID:6127219

Lawrence, D S; Sahay, J N; Chatterjee, S S; Cruickshank, J M

1982-01-01

403

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

404

Human thymic epithelial cells produce TGF-beta 3 and express TGF-beta receptors.  

PubMed

TGF-beta affects proliferation, differentiation and maturation of T cells; however, the effect of TGF-beta on thymic stromal cells has not been characterized. To better understand the role of TGF-beta in T cell development, we determined whether TGF-beta is present in the human thymus, and identified stromal cells that express TGF-beta receptors and respond to TGF-beta. We demonstrate that primary cultured human thymic epithelial cells (TEC) express TGF-beta 1, TGF-beta 2 and TGF-beta 3, as well as TGF-beta type I receptor (T beta RI) (ALK-5) and TGF-beta type II receptor (T beta RII) transcripts. In vitro, epidermal growth factor (EGF) increases transcript levels of TGF-beta 1, TGF-beta 3 and T beta RII, suggesting that EGF may modulate TGF-beta responses in TEC; however, TGF-beta 2 and T beta RI transcript levels were not affected. We also detect TGF-beta 3 and T beta RII protein in association with keratin-positive TEC in vitro and in vivo. TEC culture supernatants contain TGF-beta 3 as detected by Western blots and, upon heat and acid activation, display growth inhibitory activity on the CCL-64 cells that is neutralized by anti-TGF-beta mAb treatment. We further demonstrate that TGF-beta 1 increases leukemia inhibitory factor transcript levels in TEC, indicating that TEC express functional TGF-beta receptors. Thus, we have shown in the human thymus that TEC produce TGF-beta 3 and express T beta RI and T beta RII. The data suggest that TGF-beta is present in the human thymus and may indirectly affect T cell development by regulating TEC cytokine production. PMID:8562514

Schluns, K S; Grutkoski, P S; Cook, J E; Engelmann, G L; Le, P T

1995-10-01

405

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

406

Beta field development project  

SciTech Connect

This paper summarizes the design and the construction of platforms, facilities, and pipelines for the Beta field, offshore southern California. The field was discovered during the summer of 1976. The first phase of field development, consisting of bridge-connected drilling platform Ellen and production platform Elly in 265 ft (81 m) of water, has been completed, and the field is on production. These are large platforms. The production platform includes a large power-generation plant to provide power for lifting lowgravity crude oil with submersible bottomhole pumps. Design and siting of the platforms provided unusual challenges because of the steeply sloping bottom and the earthquake environment. Major components of the platforms were fabricated in widely scattered locations. Both jackets were fabricated in Malaysia and the drilling and production deck modules were fabricated in Japan. Other major components were fabricated in Washington, California, Texas, and Louisiana. This paper describes the unique project control and management techniques employed to keep the project on schedule and within budget.

Visser, R.C.

1982-11-01

407

Demonstration and isolation of the hybrid hemoglobins alpha 2 A beta A beta C and alpha 2 A beta S beta C.  

PubMed

The corss-linking reagent p,p'-difluoro-m,m'-dinitrodiphenylsulfone has been used to fix in the tetramer form the various species of hemoglobin present in mixtures of hemoglobin A and hemoglobin C and of hemoglobin S and hemoglobin C. Following reaction, the presence of the hybrid hemoglobins alpha 2 A beta A beta C and alpha 2 A beta S beta C in these hemoglobin mixtures was demonstrated electrophoretically and the hybrids were isolated by ion-exchange chromatography. The identity of the alpha 2 A beta A beta C hybrid was further verified by peptide analysis. The success in cross-linking alpha 2 A beta 2 C, alpha 2 A beta A beta C, and alpha 2 A beta S beta C with p,p'-difluoro-m,m'-dinitrodiphenylsulfone shows that the distance between the alpha chain amino terminals in solution for these hemoglobin species is the same as in normal hemoglobin. PMID:999877

Srouji, A H; Macleod, R M

1976-11-26

408

Personality traits and sibling relationships in emerging adults.  

PubMed

Associations between the Big Five personality traits of siblings and the quality of sibling relationships were examined in a sample of 115 college students and one of their older siblings. Big Five traits, as assessed by Goldberg's 100 adjective markers, predicted a large amount of the variability in sibling Warmth and Conflict. Agreeableness was the most consistent predictor of positive sibling outcomes. PMID:17564243

Lanthier, Richard P

2007-04-01

409

Trait Empathy and Criminal Versatility in Sexual Offenders  

Microsoft Academic Search

Associations between trait empathy and criminal versatility were examined in a sample of 88 incarcerated adult sexual offenders (29 extrafamilial child molesters, 26 intrafamilial child molesters, and 33 rapists). Considerable criminal versatility was observed, with 60% of the whole sample and 88% of recidivist offenders having previous convictions for nonsexual offenses. Regression analyses showed significant associations between trait empathy and

Stephen W. Smallbone; Julia Wheaton; Donna Hourigan

2003-01-01

410

The effects of endorsers’ traits on counterfeit purchase  

Microsoft Academic Search

This study applies Balance Theory and Elaboration Likelihood Model to explain consumerspsila counterfeit purchase behaviors. The results find that idolspsila exterior traits enhance not only consumerspsila worship levels, but also foster consumerspsila counterfeit purchase behaviors. Idolspsila interior traits enhance only worship levels, but not counterfeit purchase behaviors. In contrast, the role of worship level is to minimize the positive association

Chien-Hsin Lin

2008-01-01

411

Reduced Eye Gaze Explains “Fear Blindness” in Childhood Psychopathic Traits  

Microsoft Academic Search

ObjectiveDamage to the amygdala produces deficits in the ability to recognize fear due to attentional neglect of other people's eyes. Interestingly, children with high psychopathic traits also show problems recognizing fear; however, the reasons for this are not known. This study tested whether psychopathic traits are associated with reduced attention to the eye region of other people's faces.

MARK R. DADDS; YASMEEN EL MASRY; SUBODHA WIMALAWEERA; ADAM J. GUASTELLA

2008-01-01

412

Reduced Eye Gaze Explains "Fear Blindness" in Childhood Psychopathic Traits  

ERIC Educational Resources Information Center

|A study to test whether psychopathic traits are associated with reduced attention to the eye region of other people's faces is conducted. It is seen that attention to other people's eyes is reduced in young people with high psychopathic traits, which accounts for their problems with fear recognition.|

Dadds, Mark R.; El Masry, Yasmeen; Wimalaweera, Subodha; Guastella, Adam J.

2008-01-01

413

Inducing a benign interpretational bias reduces trait anxiety  

Microsoft Academic Search

If negative interpretational bias causes emotional vulnerability, reduction of this bias should reduce proneness to anxiety. High trait-anxious volunteers were trained over four sessions to resolve descriptions of ambiguous events in an increasingly positive manner. This group subsequently made more positive interpretations of novel descriptions than did those in a test–retest control condition. Furthermore, trait anxiety scores reduced more in

Andrew Mathews; Valerie Ridgeway; Emma Cook; Jenny Yiend

2007-01-01

414

Children's Evaluation of Sources of Information about Traits  

ERIC Educational Resources Information Center

|Children's assessment of the value of different sources of information about psychological traits was investigated among 6- to 7-year-olds and 10- to 11-year-olds across 5 studies (N=330). Older children were more likely than younger children to reject self-report as a source of information about the highly evaluative traits smart and honest, but…

Heyman, Gail D.; Legare, Cristine H.

2005-01-01

415

Genetic variation in biomass traits among 20 diverse rice varieties.  

PubMed

Biofuels provide a promising route of producing energy while reducing reliance on petroleum. Developing sustainable liquid fuel production from cellulosic feedstock is a major challenge and will require significant breeding efforts to maximize plant biomass production. Our approach to elucidating genes and genetic pathways that can be targeted for improving biomass production is to exploit the combination of genomic tools and genetic diversity in rice (Oryza sativa). In this study, we analyzed a diverse set of 20 recently resequenced rice varieties for variation in biomass traits at several different developmental stages. The traits included plant size and architecture, aboveground biomass, and underlying physiological processes. We found significant genetic variation among the 20 lines in all morphological and physiological traits. Although heritability estimates were significant for all traits, heritabilities were higher in traits relating to plant size and architecture than for physiological traits. Trait variation was largely explained by variety and breeding history (advanced versus landrace) but not by varietal groupings (indica, japonica, and aus). In the context of cellulosic biofuels development, cell wall composition varied significantly among varieties. Surprisingly, photosynthetic rates among the varieties were inversely correlated with biomass accumulation. Examining these data in an evolutionary context reveals that rice varieties have achieved high biomass production via independent developmental and physiological pathways, suggesting that there are multiple targets for biomass improvement. Future efforts to identify loci and networks underlying this functional variation will facilitate the improvement of biomass traits in other grasses being developed as energy crops. PMID:21062890

Jahn, Courtney E; Mckay, John K; Mauleon, Ramil; Stephens, Janice; McNally, Kenneth L; Bush, Daniel R; Leung, Hei; Leach, Jan E

2010-11-09

416

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

417

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

418

Economic weights for sow productivity traits in nucleus pig populations  

Microsoft Academic Search

Economic values or weights measure the net economic gain per unit genetic increase of a given trait. These were derived for sow productivity traits for use as weighting factors in a dam line selection index used by purebred or nucleus dam line breeders. The profit function approach was used in order to provide flexibility to alternative production systems, market requirements

V. M. Quinton; J. W. Wilton; J. A. Robinson; P. K. Mathur

2006-01-01

419

Competencies and Traits of Successful Agricultural Science Teachers  

ERIC Educational Resources Information Center

|The purpose of this mixed-methods study was to identify the required competencies and traits of successful agricultural science teachers. Data was collected from focus groups of agricultural science teachers and a content analysis of existing research. Results identified 47 unique traits or competencies that were divided into the categories of…

Roberts, T. Grady; Dooley, Kim E.; Harlin, Julie F.; Murphrey, Theresa P.

2006-01-01

420

Personality Traits Associated with Altruistic Behavior of Children  

ERIC Educational Resources Information Center

Among the results were that boys only showed negative" types of traits occurring with low and high levels of altruism, and that positive" types of traits occurred with in-between levels of altruism. Also, both rational-altruistic and conscientious-altruistic types of behavior were presented in the data obtained. (Author)

Bond, Norman D.; Phillips, Beeman N.

1971-01-01

421

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

422

Influence of Morphophysiological Traits on Sunflower Oil Yield  

Microsoft Academic Search

Determination of interdependence between sunflower oil yield on the one hand and seed yield and morphophysiological traits on the other makes it possible to better utilize genetic resources in breeding for a high genetic potential for oil yield in this crop. The sunflower genotypes studied differed significantly in the mean values of all the traits concerned. A highly significant positive

Nada HLADNI; Marija KRALJEVI?-BALALI?

423

Trait displaced aggression, physical health, & life satisfaction: A process model  

Microsoft Academic Search

Aggressive individuals are at increased risk of poor health, early mortality, mental health problems, and decreased life satisfaction. However, recent research suggests that trait aggression is not a unitary phenomenon. To date, most personality research on the topic has focused on direct aggression. Individuals high in trait direct aggression tend to respond to provocation with immediate anger and retaliation. By

Thomas F. Denson; William C. Pedersen; Jaclyn Ronquillo; Norman Miller

424

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

425

Quantitative Trait Locus Analysis of the Early Domestication of Sunflower  

Microsoft Academic Search

Genetic analyses of the domestication syndrome have revealed that domestication-related traits typically have a very similar genetic architecture across most crops, being conditioned by a small number of quantitative trait loci (QTL), each with a relatively large effect on the phenotype. To date, the domes- tication of sunflower (Helianthus annuus L.) stands as the only counterexample to this pattern. In

David M. Wills; John M. Burke

2007-01-01

426

Self-concept, dogmatism, and tolerance of trait inconsistency  

Microsoft Academic Search

A series of impression formation problems was given to a group of 62 college freshmen women. 2 hypotheses were tested: (a) that self-descriptions for a particular trait would be systematically related to reactions to inconsistency in information presented along that trait dimension; and (b) that dogmatism, as measured by the Rokeach Dogmatism Scale, would also be related to tolerance of

David Foulkes; Susan Heaxt Foulkes

1965-01-01

427

Emotion traits in older suicide attempters and non-attempters  

Microsoft Academic Search

Background: Emotion is a flourishing area of cross-disciplinary research that can inform traditional approaches to psychopathology. The present study examines emotion traits associated with attempted suicide in a depressed older sample. Methods: Seven emotion traits were compared in depressed inpatients, age 50 years or older, who either had made a suicide attempt after age 50 (n=47) or had never made

Larry Seidlitz; Yeates Conwell; Paul Duberstein; Christopher Cox; Diane Denning

2001-01-01

428

Using Cognitive Traits for Improving the Detection of Learning Styles  

Microsoft Academic Search

While providing online courses that fit students' learning styles has high potential to make learning easier for students, it requires knowing students' learning styles first. This paper demonstrates how the consideration of cognitive traits such as working memory capacity (WMC) can help in detecting learning styles. Previous studies have identified a relationship between learning styles and cognitive traits. In this

Sabine Graf; K. Kinshuk

2010-01-01

429

Callous-Unemotional Traits in a Community Sample of Adolescents  

ERIC Educational Resources Information Center

This study examined the structure, distribution, and correlates of a new measure of self-reported callous-unemotional (CU) traits in 1,443 adolescents (774 boys, 669 girls) between the ages of 13 to 18 years. The Inventory of Callous-Unemotional Traits was subjected to exploratory factor analysis and confirmatory factor analysis. Exploratory…

Essau, Cecilia A.; Sasagawa, Satoko; Frick, Paul J.

2006-01-01

430

Sweet taste preference and personality traits using a white wine  

Microsoft Academic Search

Understanding the influences of food and drink consumption patterns could help elucidate the factors that promote healthy dietary practices. Research has begun to investigate the influence of personality traits on dietary decisions. The current experiment measured personality traits and sweet taste preference using white wine in a healthy sample of adults (n=45). Sweet taste preference was associated with a higher

Anthony J. Saliba; Kate Wragg; Paul Richardson

2009-01-01

431

Immunity Traits in Pigs: Substantial Genetic Variation and Limited Covariation  

Microsoft Academic Search

BackgroundIncreasing robustness via improvement of resistance to pathogens is a major selection objective in livestock breeding. As resistance traits are difficult or impossible to measure directly, potential indirect criteria are measures of immune traits (ITs). Our underlying hypothesis is that levels of ITs with no focus on specific pathogens define an individual's immunocompetence and thus predict response to pathogens in

Laurence Flori; Yu Gao; Denis Laloë; Gaëtan Lemonnier; Jean-Jacques Leplat; Angélique Teillaud; Anne-Marie Cossalter; Joëlle Laffitte; Philippe Pinton; Christiane de Vaureix; Marcel Bouffaud; Marie-José Mercat; François Lefèvre; Isabelle P. Oswald; Jean-Pierre Bidanel; Claire Rogel-Gaillard

2011-01-01

432

Autonomic action in relation to personality traits of childen  

Microsoft Academic Search

In an attempt to relate certain traits of personality with the more readily measurable autonomic reactions to startling sensory stimuli, certain physiological measures were studied in relation to ratings on six traits of personality. Intercorrelations among the physiological measures indicated that two physiological response mechanisms were involved: the sympathico-adrenal and the parasympathetic-cholinergic branches of the autonomic nervous system. Using composite

R. P. Darling

1940-01-01

433

Plant functional traits and soil carbon sequestration in contrasting biomes  

Microsoft Academic Search

Plant functional traits control a variety of terrestrial ecosystem processes, including soil carbon storage which is a key component of the global carbon cycle. Plant traits regulate net soil carbon storage by controlling carbon assimilation, its transfer and storage in belowground biomass, and its release from soil through respiration, fire and leaching. However, our mechanistic understanding of these processes is

Gerlinde B. De Deyn; Johannes H. C. Cornelissen; Richard D. Bardgett

2008-01-01

434

Trait beliefs that make women vulnerable to math disengagement  

Microsoft Academic Search

This study examined if women’s beliefs regarding the malleability of traits influences their tendency to disengage from the math domain following failure. As predicted, women who believed their math skills were fixed and unchangeable showed less math identification and less interest in math tasks than women who believed their math skills were malleable. These results suggest that women with fixed-trait

Melissa Burkley; Jessica Parker; S. Paul Stermer; Edward Burkley

2010-01-01

435

Goal and Personality Trait Development in Emerging Adulthood  

Microsoft Academic Search

The present research examined continuity and change in the importance of major life goals and the relation between change in goals and change in personality traits over the course of college (N = 298). Participants rated the importance of their life goals 6 times over a 4-year period and completed a measure of the Big Five personality traits at the

Brent W. Roberts; Megan ODonnell; Richard W. Robins

2004-01-01

436

Traits and Metatraits: Their Reliability, Stability, and Shared Genetic Influence  

Microsoft Academic Search

Metatraits measure individual differences in construct relevancy, whereas traits measure individual differences in construct extremity. Twenty-four traits and metatraits were examined in this study using 157 pairs of identical twins reared together, 95 pairs of identical twins reared apart, 211 pairs of fraternal twins reared together, and 228 pairs of fraternal twins reared apart obtained from the Swedish Adoption\\/Twin Study

Scott L. Hershberger; Robert Plomin; Nancy L. Pedersen

1995-01-01

437

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

438

Gender, Somatization, and Psychopathic Traits in a College Sample  

Microsoft Academic Search

The structure of psychopathic traits and their association with somatization symptoms were investigated in a sample of 199 undergraduate college students enrolled in introductory psychology classes. Using multiple measures of psychopathic traits, an iterated principal axis (IPA) analysis revealed two dimensions of psychopathy that were similar to ones typically found in forensic samples. One dimension focused on a cold, callous,

Dawn L. Wilson; Paul J. Frick; Carl B. Clements

1999-01-01

439

Gender bias in children's perceptions of personality traits  

Microsoft Academic Search

Social psychologists have demonstrated that when people are divided into social categories, even ones created arbitrarily, they often display favoritism for members of their own group. The current study used an intergroup perspective on gender to examine sex differences in children's perceptions of personality traits. 167 eight- to ten-year-olds were asked to evaluate 48 traits in terms of either their

Kimberly K. Powlishta

1995-01-01

440

Emotional Intelligence Abilities and Traits in Different Career Paths  

Microsoft Academic Search

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 using the emotional intelligence test MSCEIT, as well as neuroticism, and

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

2009-01-01

441

Relatedness in Trait Group Models of Social Evolution  

Microsoft Academic Search

Genetic relatedness is a central concept in the study of social evolution. Though originally defined in terms of genealogy, the modern version of relatedness accommodates genetic similarity of any origin. This paper examines relatedness in group structured modes, in which a trait affects the fitness of all group members. Such traits can be divided into two types, based on whether

John W. Pepper

2000-01-01

442

Neural basis of interpersonal traits in neurodegenerative diseases.  

PubMed

Several functional and structural imaging studies have investigated the neural basis of personality in healthy adults, but human lesions studies are scarce. Personality changes are a common symptom in patients with neurodegenerative diseases like frontotemporal dementia (FTD) and semantic dementia (SD), allowing a unique window into the neural basis of personality. In this study, we used the Interpersonal Adjective Scales to investigate the structural basis of eight interpersonal traits (dominance, arrogance, coldness, introversion, submissiveness, ingenuousness, warmth, and extraversion) in 257 subjects: 214 patients with neurodegenerative diseases such as FTD, SD, progressive nonfluent aphasia, Alzheimer's disease, amnestic mild cognitive impairment, corticobasal degeneration, and progressive supranuclear palsy and 43 healthy elderly people. Measures of interpersonal traits were correlated with regional atrophy pattern using voxel-based morphometry (VBM) analysis of structural MR images. Interpersonal traits mapped onto distinct brain regions depending on the degree to which they involved agency and affiliation. Interpersonal traits high in agency related to left dorsolateral prefrontal and left lateral frontopolar regions, whereas interpersonal traits high in affiliation related to right ventromedial prefrontal and right anteromedial temporal regions. Consistent with the existing literature on neural networks underlying social cognition, these results indicate that brain regions related to externally focused, executive control-related processes underlie agentic interpersonal traits such as dominance, whereas brain regions related to internally focused, emotion- and reward-related processes underlie affiliative interpersonal traits such as warmth. In addition, these findings indicate that interpersonal traits are subserved by complex neural networks rather than discrete anatomic areas. PMID:19540253

Sollberger, Marc; Stanley, Christine M; Wilson, Stephen M; Gyurak, Anett; Beckman, Victoria; Growdon, Matthew; Jang, Jung; Weiner, Michael W; Miller, Bruce L; Rankin, Katherine P

2009-06-18

443

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

444

Personality disorders and traits in patients with body dysmorphic disorder  

Microsoft Academic Search

Individuals with body dysmorphic disorder (BDD) have been postulated to have schizoid, narcissistic, and obsessional personality traits and to be sensitive, introverted, perfectionistic, and insecure. However, data on personality traits and disorders in BDD are limited. This study assessed 148 subjects with BDD, 26 of whom participated in a fluvoxamine treatment study; 74 subjects were assessed for personality disorders with

Katharine A. Phillips; Susan L. McElroy

2000-01-01

445

Genetic and molecular dissection of quantitative traits in rice  

Microsoft Academic Search

Recent progress in the generation of a molecular genetic map and markers for rice has made possible a new phase of mapping individual genes associated with complex traits. This type of analysis is often referred to as quantitative trait locus (QTL) analysis. Increasing numbers of QTL analyses are providing enormous amounts of information about QTLs, such as the numbers of

Masahiro Yano; Takuji Sasaki

1997-01-01