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Sample records for beta thalassaemia trait

  1. Molecular variants and clinical importance of beta-thalassaemia traits found in the state of Orissa, India.

    PubMed

    Nishank, Sudhansu Sekhar; Ranjit, Manoranjan; Kar, Shantanu K; Chhotray, Guru Prasad

    2009-10-01

    Prevention of beta thalassaemia implies knowledge of the molecular spectrum occurring in the population at risk. This knowledge is necessary, especially when a prevention protocol is applied to a multiethnic population. For this purpose, we carried out molecular analysis of 431 beta thalassaemia subjects belonging to tribal (aboriginal) and non-tribal communities of Orissa, a part of peninsular India and found six types of mutation (four previously unreported and two reported). Molecular analysis of beta gene mutation showed that out of 431 beta thalassaemia cases (265 beta thalassaemia traits, 64 beta thalassaemia major, 47 haemoglobin E-beta thalassaemia, 55 haemoglobin S-beta thalassaemia cases), 71% of cases (n=306) showed the IVS I-5(G-->C) mutation, 12% of cases (n=52) showed FS 41/42(-CTTT), 7% of cases (n=30) showed CD 15(G-->A), 4.8% of cases (n=21) showed CD 30 (G-->C), 3% of cases (n=13) showed FS 8/9 (+G), and 2% of cases (n=9) showed IVSI-1(G-->T). The tribal populations possess only the IVS I-5(G-->C) mutation whereas the non-tribal groups possess the FS 41/42(-CTTT), FS 8/9 (+G), IVS I-1(G-->T), CD30(G-->C) and IVS I-5(G-->C) mutations. Among the non-tribal communities, Muslims did not have the IVS I-1 (G-->T) mutation. Clinically, anaemia was mild to moderate in beta thalassaemia trait and was found to be associated with the majority of abnormalities such as pyrexial episodes, fatigue, headache, lethargy and pallor. However, there were no differences in the incidence of clinical abnormalities between tribal and non-tribal populations and also among the different molecular variants of beta gene. This is the first report from Orissa on the prevalence of different molecular variants of beta thalassaemia. The clinical presentation of beta thalassaemia trait cases and their variation from other population have been discussed with reference to the different genetic variants. PMID:19843386

  2. Haematological parameters and HbA2 levels in beta-thalassaemia trait with coincident iron deficiency.

    PubMed

    Madan, N; Sikka, M; Sharma, S; Rusia, U

    1998-07-01

    Iron status was estimated in 463 heterozygous beta-thalassaemics to delineate the effect of iron deficiency (ID) on the haematological parameters and expression of HbA2 in these patients. One hundred and twenty six (27.2%) traits had coincident ID. These iron deficient traits had a significantly (p < 0.0002), higher prevalence of anaemia (90.5%) as compared to iron replete traits (71.5%). Mean haemoglobin concentration was significantly lower (p < 0.0001) in beta-thalassaemics with ID (10.7 +/- 1.5) g/al as compared to those without ID (11.6 +/- 1.6 g/dl). Mean MCV and MCH were significantly lowered (p < 0.0001) in patients of beta-thalassaemia trait (BTT) with ID than in these without ID. Mean HbA2 was not significantly different in the two groups of traits and was elevated (> or = 3.5%) in all except one patient. However, mean HbA2/cell was significantly (p < 0.05) lower in traits with ID. The effect of ID in BTT was apparent with significant lowering of haemoglobin concentration and increased prevalence of anaemia. Iron therapy is warranted in iron deficient traits and would help in significantly raising their haemoglobin concentration. Elevation in HbA2 values was striking and could be used with reliability for diagnosis of BTT even in the presence of ID. PMID:9805853

  3. Cardiovascular aspect of Beta-thalassaemia.

    PubMed

    Taksande, Amar; Prabhu, Shakuntala; Venkatesh, Sumitra

    2012-03-01

    Beta-thalassaemia major is a genetic blood disorder caused by the reduced synthesis of beta globin chain. The consequences of the resulting chronic anaemia are also common and include growth retardation, bone marrow expansion, extramedular hematopoiesis, splenomegaly, increased intestinal iron absorption, susceptibility to infections, and hypercoagulability. Transfusional iron overload can affect heart function by directly damaging tissue through iron deposition or via iron-mediated effects at other sites. Cardiac dysfunction is common in patients with thalassaemia and is the leading cause of mortality. The main cardiac abnormalities reported in patients with thalassaemia major (TM) and iron overload are left ventricular systolic and diastolic dysfunction, pulmonary hypertension, valvulopathies, arrhythmias and pericarditis. These cardiac abnormalities are a consequence of the general co-morbid conditions in thalassaemia but are closely related to concomitant endocrine deficiencies, hypercoagulability state and inflammatory milieu. Iron's toxicity within cells arises from its capacity to catalyse the production of reactive oxygen species that cause lipid peroxidation and organelle damage, which lead ultimately to cell death and fibrosis. With the introduction of new technologies such as cardiac magnetic resonance T2* , the early detection of cardiac iron overload and associated cardiac dysfunction is now possible, allowing time for reversal through iron chelation therapy. PMID:22239492

  4. Diabetes mellitus in children suffering from beta-thalassaemia.

    PubMed

    el-Hazmi, M A; al-Swailem, A; al-Fawaz, I; Warsey, A S; al-Swailem, A

    1994-10-01

    Insulin-dependent diabetes mellitus (IDDM) is a frequent complication in patients with beta-thalassaemia major. It is believed to be a consequence of the damage inflicted by iron overload to the pancreatic beta-cell. Liver disorders and genetic influences seem to be additional predisposing factors to diabetes mellitus in patients with beta-thalassaemia. Ethnic variations are frequently reported on prevalence and complications of diabetes mellitus in the beta-thalassaemia patients. We investigated 50 Saudi children (< 15 years) with beta-thalassaemia major and 50 beta-thalassaemia minor, and age- and sex-matched controls for the prevalence of diabetes mellitus, and its relation to hitherto claimed predisposing factors. Fasting blood glucose, plasma insulin level, liver function tests, plasma ferritin, iron, and transferrin were assessed in each patient and glucose tolerance was evaluated. Results in patients with beta-thalassaemia major were compared with those obtained for beta-thalassaemia minor and the controls. The results showed moderate elevation of ferritin level in the majority of the beta-thalassaemia major despite desferroxamine therapy. Either hyperinsulinaemia or hypoinsulinaemia was encountered in the majority of these patients. The prevalence of diabetes mellitus was 6 per cent compared to 2 per cent in the beta-thalassaemia minor and normal children. Impaired glucose tolerance (IGT) occurred at a significantly higher (24 per cent) frequency in the beta-thalassaemia major compared to 2 and 0 per cent in the beta-thalassaemia minor patients and normal controls, respectively. The prevalence of diabetes mellitus was significantly lower in the Saudi thalassaemic patients compared to the results obtained from patients of other ethnic groups reported in literature.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7807619

  5. ?-thalassaemia

    PubMed Central

    2010-01-01

    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. PMID:20507641

  6. Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis.

    PubMed Central

    Rosatelli, C; Leoni, G B; Tuveri, T; Scalas, M T; Di Tucci, A; Cao, A

    1987-01-01

    In this study we have characterised by oligonucleotide hybridisation and direct restriction endonuclease analysis the beta thalassaemia mutation in 494 Sardinian beta thalassaemia heterozygotes. The most prevalent mutation, accounting for 95.4% of the cases, was the nonsense mutation at codon 39. The remainder, in decreasing order of frequency, were a frameshift at codon 6 (2.2%), beta + IVS-1, nt 110 (0.4%), and beta + IVS-2, nt 745 (0.4%). This information allows prenatal diagnosis by DNA analysis to be made in the great majority of Sardinian couples at risk for beta thalassaemia. Images PMID:3031299

  7. Epistasis and the sensitivity of phenotypic screens for beta thalassaemia

    PubMed Central

    Penman, Bridget S; Gupta, Sunetra; Weatherall, David J

    2015-01-01

    Genetic disorders of haemoglobin, particularly the sickle cell diseases and the alpha and beta thalassaemias, are the commonest inherited disorders worldwide. The majority of affected births occur in low-income and lower-middle income countries. Screening programmes are a vital tool to counter these haemoglobinopathies by: (i) identifying individual carriers and allowing them to make informed reproductive choices, and (ii) generating population level gene-frequency estimates, to help ensure the optimal allocation of public health resources. For both of these functions it is vital that the screen performed is suitably sensitive. One popular first-stage screening option to detect carriers of beta thalassaemia in low-income countries is the One Tube Osmotic Fragility Test (OTOFT). Here we introduce a population genetic framework within which to quantify the likely sensitivity and specificity of the OTOFT in different epidemiological contexts. We demonstrate that interactions between the carrier states for beta thalassaemia and alpha thalassaemia, glucose-6-phosphate dehydrogenase deficiency and Southeast Asian Ovalocytosis have the potential to reduce the sensitivity of OTOFTs for beta thalassaemia heterozygosity to below 70%. Our results therefore caution against the widespread application of OTOFTs in regions where these erythrocyte variants co-occur. PMID:25521998

  8. Epistasis and the sensitivity of phenotypic screens for beta thalassaemia.

    PubMed

    Penman, Bridget S; Gupta, Sunetra; Weatherall, David J

    2015-04-01

    Genetic disorders of haemoglobin, particularly the sickle cell diseases and the alpha and beta thalassaemias, are the commonest inherited disorders worldwide. The majority of affected births occur in low-income and lower-middle income countries. Screening programmes are a vital tool to counter these haemoglobinopathies by: (i) identifying individual carriers and allowing them to make informed reproductive choices, and (ii) generating population level gene-frequency estimates, to help ensure the optimal allocation of public health resources. For both of these functions it is vital that the screen performed is suitably sensitive. One popular first-stage screening option to detect carriers of beta thalassaemia in low-income countries is the One Tube Osmotic Fragility Test (OTOFT). Here we introduce a population genetic framework within which to quantify the likely sensitivity and specificity of the OTOFT in different epidemiological contexts. We demonstrate that interactions between the carrier states for beta thalassaemia and alpha thalassaemia, glucose-6-phosphate dehydrogenase deficiency and Southeast Asian Ovalocytosis have the potential to reduce the sensitivity of OTOFTs for beta thalassaemia heterozygosity to below 70%. Our results therefore caution against the widespread application of OTOFTs in regions where these erythrocyte variants co-occur. PMID:25521998

  9. Red cell indices and discriminant functions in the detection of beta-thalassaemia trait in a population with high prevalence of iron deficiency anaemia.

    PubMed

    Madan, N; Sikka, M; Sharma, S; Rusia, U; Kela, K

    1999-01-01

    Red cell indices and discriminant functions were studied in 463 heterozygous beta-thalassaemics (337 without iron deficiency, 126 with iron deficiency) and 195 patients of iron deficiency anaemia (IDA) to ascertain their utility in the detection of betathalassaemia trait (BTT). Majority of traits in both groups had an elevated RBC count (> or = 5.0 x 10(12)/L). The counts were significantly higher than of patients with IDA, only 4.6% of whom had this degree of erythrocytosis. Mean Hb concentration was significantly higher in traits as compared to iron deficient subjects (p < 0.0001). Mean MCV and MCH were significantly (p < 0.0001) lower in traits more so in those with ID as compared to patients of IDA. MCV < 80 fl and MCH < 27 pg were found to be sensitive markers in the detection of traits even in the presence of ID. Of the four discriminant functions studied MCSQ was found to be most sensitive in detection of BTT and it identified 97.9% traits. DF of England and Fraser was most specific for BTT being < 8.4 in only 6.2% patients with IDA. Detection of erythrocytosis especially in the presence of mild anaemia and calculation of discriminant functions derived from red cell indices were found to play an important role in screening for BTT even in the presence of ID and helped identify those patients who required further laboratory evaluation. PMID:10420685

  10. Beta-thalassaemia mutations in northern India (Delhi).

    PubMed

    Madan, N; Sharma, S; Rusia, U; Sen, S; Sood, S K

    1998-03-01

    The present study was undertaken to define beta-thalassaemia mutations prevalent in northern India (Delhi). Forty six children of beta-thalassaemia major and their families were investigated. DNA was extracted from leucocytes and screened for mutations prevalent in the Indian population. These mutations included 619bp deletion, IVS 1-1 (G-T), IVS 1-5 (G-C), frameshift mutations FS 8/9 (+G), FS 41/42 (-CTTT), Codon 16(-C), Codon 15 (G-A), codon 30 (G-C), IVS 1-110 (G-A) and -88 (C-T). 619 bp deletion mutation was detected directly by amplification of DNA by PCR followed by agarose gel electrophoresis. Other mutations were studied by DNA amplification and dot blot hybridization using synthetic normal and mutant oligonucleotide probes labelled at 5' end with gamma-32 P-ATP. Five mutations accounted for all the chromosomes in 46 patients. 619 bp deletion mutation was found to be the commonest mutation (34.8%) followed by IVS 1-5 (G-C) in 22.8 per cent, IVS 1-1 (G-T) in 19.6 per cent, FS 8/9 (+G) in 13 per cent and FS 41/42 (-CTTT) in 9.8 per cent. Nineteen (41.3%) patients were homozygous and 27 (58.7%) double heterozygous for different beta-thalassaemia mutations. This observation of limited number of mutations is significant and will be useful in planning strategies for prenatal diagnosis of beta-thalassaemia in northern India. PMID:9599953

  11. Haemoglobin E trait and probable alpha-thalassaemia in a black American family: a family study.

    PubMed Central

    El-Shirbiny, A F; Parkhurst, S; Bettigole, R E; Tourbaf, K D

    1980-01-01

    This is a report of haemoglobin E trait in a black American family with no known Asian ancestory. The father appears to be heterozygous for both haemoglobin E and alpha-thalassaemia. The mother is normal both clinically and haematologically. These children carry Hb E trait alone. The youngest son has a normal haemoglobin pattern and appears to have alpha-thalassaemia. Images PMID:7205904

  12. Psychosocial functioning in adults with beta-thalassaemia major: evidence for resilience.

    PubMed

    Zani, Bruna; Prati, Gabriele

    2015-04-01

    Our aims were to compare the psychosocial functioning of a sample of adults with beta-thalassaemia major to that of a control sample and to examine the protective role of quality of relationship with parents during adolescence and perceived quality of care. A total of 85 Italian beta-thalassaemia major participants and 73 controls completed an ad hoc questionnaire. Compared with controls, beta-thalassaemia major participants did not differ on relationships with significant others and coping strategies. Beta-thalassaemia major participants reported higher scores on job satisfaction, self-esteem and self-description. The relationship with parents during adolescence and the perceived quality of care significantly predicted higher well-being and psychosocial functioning. PMID:24058126

  13. Co-inheritance of alpha- and beta-thalassaemia in mice ameliorates thalassaemic phenotype.

    PubMed

    Voon, Hsiao Phin Joanna; Wardan, Hady; Vadolas, Jim

    2007-01-01

    Beta-thalassaemia is an inherited disease caused by defective synthesis of the beta-globin chain of haemoglobin, leading to an imbalance in globin chains. Excess alpha-globin chains precipitate in erythroid progenitor cells resulting in cell death, ineffective erythropoiesis and severe anaemia. Decreased alpha-globin synthesis leads to milder symptoms, exemplified by individuals who co-inherit alpha-thalassaemia and beta-thalassaemia. In this study, we set out to investigate whether co-inheritance of alpha- and beta-thalassaemia in mice leads to reduced anaemia. Heterozygous murine beta-globin knockout (KO) mice (beta+/-) which display severe anaemia were mated with heterozygous alpha-globin KO mice (alpha++/--). The resulting progeny were genotyped and classed as wild-type WT (alpha++/++;beta+/+), heterozygous alpha-KO (alpha++/--;beta+/+), heterozygous beta-KO (alpha++/++;beta+/-) or double heterozygous (DH) alpha-KO/beta-KO (alpha++/--;beta+/-). Mice were bled and full blood examinations (FBE) performed. FBE results for heterozygous beta-KO mice (beta+/-) showed marked reductions in haemoglobin and haematocrit levels and significant increases in red cell distribution widths and reticulocyte counts compared to WT mice. In contrast, FBE results for DH alpha-KO/beta-KO mice showed near normal red blood cell indices. These results indicate that reduction of alpha-globin expression leads to correction of the globin chain imbalance in beta-thalassaemic mice and therefore an improved phenotype. The analysis of DH alpha-KO/beta-KO mice leads to the following conclusions: (1) co-inheritance of alpha- and beta-thalassaemia in mice improves the thalassaemic phenotype, identical to the situation in humans; (2) the heterozygous murine beta-globin KO mouse model is a suitable in vivo model to test for therapeutic knockdown of alpha-globin. PMID:17493845

  14. Chronic oxidative stress reduces the respiratory burst response of neutrophils from beta-thalassaemia patients.

    PubMed

    Amer, Johnny; Fibach, Eitan

    2005-05-01

    Beta-thalassaemia patients are susceptible to infections by mechanisms that are not fully understood. Polymorphonuclear neutrophils (PMN) destroy microbes by producing a burst of reactive oxygen species (ROS) (respiratory burst) in response to bacterial components, as well as to phorbol-myristate-acetate (PMA). In the present study, we compared ROS generation by normal and beta-thalassaemia PMN and assessed their response to PMA. Blood cells were subjected to gelatin separation, staining with dichlorofluorescin-diacetate and flow cytometry. At basal level, the fluorescence (mean fluorescence channel) of normal and thalassaemia PMN were 12.7 +/- 4.5 and 95.6 +/- 19.8 respectively; it changed to 283.4 +/- 72.5 and 39.5 +/- 14.3, respectively, upon PMA stimulation, indicating that thalassaemia PMN have a higher basal ROS but a reduced response to PMA. When normal PMN were treated with the oxidants hydrogen peroxide and butyl-hydroxyperoxide, as well as iron and haemin, which are elevated in thalassaemia, their basal ROS increased 5-22-fold, but the PMA response was abolished. Treating thalassaemic PMN with antioxidants (N-acetyl-L-cysteine or vitamins C and E) reduced their basal ROS but enhanced their PMA response. Our findings indicate that chronically stressed PMN, e.g. in thalassaemia, have reduced capacity to elicit a respiratory burst, which may compromise their antibacterial capacity, and imply prophylactic treatment with antioxidants for recurrent infections. PMID:15842669

  15. Effect of heterozygous ?-thalassaemia trait on coronary atherosclerosis via coronary artery disease risk factors: a preliminary study

    PubMed Central

    Hashemi, M; Shirzadi, E; Talaei, Z; Moghadas, L; Shaygannia, I; Yavari, M; Amiri, N; Taheri, H; Montazeri, H; Shamsolkottabi, H

    2007-01-01

    Summary Background Thalassaemia is considered the most common genetic disorder worldwide. An association between the heterozygous ?-thalassaemia trait and myocardial infarction has previously been observed. However, the relationship between heterozygous ?-thalassaemia and atherosclerosis, considering other coronary artery disease (CAD) risk factors, has remained unclear. Methods A case-control study was conducted to evaluate the hypothesis that thalassaemia minor affects the likelihood of atherosclerotic plaque formation. Blood counts and blood chemistry data as well as traditional risk factors from 1 363 patients referred to heart centres for coronary angiography were recorded. Heterozygous ?-thalassaemia was diagnosed by the presence of hypochoromic-microcytic anaemia, ferritin levels > 12 ng/ml and haemoglobin-A2 levels > 3.5. Results Chi-squared analysis showed that the prevalence of heterozygous ?-thalassaemia was not significantly different between patients with and without CAD (p > 0.05). Multivariate logistic regression analysis using CAD as the dependent variable and traditional risk factors, haematocrit, ferritin levels and heterozygous ?-thalassaemia as independent variables, did not show any significant difference either. Independent two-tailed students t-tests showed that haematocrit levels were statistically different (p = 0.000) between CAD+ and CAD? groups, but low-density lipids (LDL), high-density lipids (HDL), triglycerides (TG), total cholesterol and serum ferritin levels were not statistically different (p > 0.05). Conclusion The prevalence of heterozygous ?-thalassaemia in the case group was not significantly different from the control group. This case-control study did not support the hypothesis that thalassaemia minor affects the likelihood of atherosclerotic plaque formation. PMID:17612748

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

    PubMed Central

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

    2001-01-01

    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. PMID:11731807

  17. Survey on haemoglobin variants, beta thalassaemia, glucose-6-phosphate dehydrogenase deficiency, and haptoglobin types in Turks from western Thrace.

    PubMed Central

    Aksoy, M; Kutlar, A; Kutlar, F; Dinol, G; Erdem, S; Ba?tesbihi, S

    1985-01-01

    A total of 102 apparently healthy and randomly selected Turks who either immigrated from Western Thrace or were still living there were studied for haemoglobin variants, high Hb A2 beta thalassaemia, G6PD deficiency, and haptoglobin types. The incidence of haemoglobins S and O Arab were 2.9 and 3.9% respectively. The incidence of high A2 beta thalassaemia was 10.8% and that of G6PD deficiency 5%. The gene frequencies of Hp1 and Hp2 were 0.326 and 0.674, respectively. PMID:4045955

  18. Survey on haemoglobin variants, beta thalassaemia, glucose-6-phosphate dehydrogenase deficiency, and haptoglobin types in Turks from western Thrace.

    PubMed

    Aksoy, M; Kutlar, A; Kutlar, F; Dinol, G; Erdem, S; Ba?tesbihi, S

    1985-08-01

    A total of 102 apparently healthy and randomly selected Turks who either immigrated from Western Thrace or were still living there were studied for haemoglobin variants, high Hb A2 beta thalassaemia, G6PD deficiency, and haptoglobin types. The incidence of haemoglobins S and O Arab were 2.9 and 3.9% respectively. The incidence of high A2 beta thalassaemia was 10.8% and that of G6PD deficiency 5%. The gene frequencies of Hp1 and Hp2 were 0.326 and 0.674, respectively. PMID:4045955

  19. Early iron overload in beta-thalassaemia major: when to start chelation therapy?

    PubMed Central

    Fargion, S; Taddei, M T; Gabutti, V; Piga, A; Di Palma, A; Capra, L; Fontanelli, G; Avanzini, A

    1982-01-01

    Twenty-eight children with beta-thalassaemia major aged between 11 and 48 months were given intensive transfusions. Serum iron, transferrin saturation, serum ferritin, non-transferrin iron, and subcutaneous desferrioxamine-induced urinary iron excretion were measured. The results showed that even children with a limited number of transfusions had severe iron overload as indicated, in particular, by the raised serum ferritin levels and the high excretion rates after subcutaneous infusion of desferrioxamine. The desferrioxamine test was useful, even in very young children, in assessing response to chelation therapy thus enabling such treatment to be started early to prevent harm from iron overload. PMID:7181522

  20. Osteomyelitis, discitis, epidural and psoas abscess secondary to Salmonella enterica in a man with diabetes mellitus and newly diagnosed ?-thalassaemia trait.

    PubMed

    Farrar, Helen; Abbey, Aoife; Patel, Vinod; Nair, Rajiv

    2015-01-01

    We report the case of a 65-year-old man with type 2 diabetes mellitus and ?-thalassaemia trait. Investigations for relapsing and remitting fever found vertebral osteomyelitis, discitis and epidural and psoas abscess secondary to Salmonella enterica. PMID:25608980

  1. Imaging manifestations of acquired elastopathy resembling pseudoxanthoma elasticum in patients with beta thalassaemia major and sickle cell disease.

    PubMed

    Narayanan, Harish; Cheng, Ken; Lau, Ken; Harish, Radhika; Bowden, Donald K

    2016-02-01

    Development of an acquired systemic elastopathy resembling pseudoxanthoma elasticum in patients with chronic haemoglobinopathies such as beta thalassaemia major and sickle cell disease is well documented. There is paucity of any comprehensive literature on the radiological manifestations of this entity. This pictorial review aims to describe and illustrate the multi system and multi modality imaging findings of this condition. PMID:26548799

  2. Membrane-bound iron contributes to oxidative damage of beta-thalassaemia intermedia erythrocytes.

    PubMed

    Tavazzi, D; Duca, L; Graziadei, G; Comino, A; Fiorelli, G; Cappellini, M D

    2001-01-01

    Iron-dependent oxidative reactions in beta-thalassaemic erythrocyte membranes are involved in premature cell removal and anaemia. We studied 22 beta-thalassaemia intermedia patients (i) to assess if membrane iron accumulation influences the oxidative damage to thalassaemic cells, and (ii) to see whether the mechanisms of haemoglobin destabilization described in vitro have indicators in circulating erythrocytes. Serum non-transferrin-bound iron as potentially toxic iron for erythrocytes was also evaluated. Membrane-bound free iron significantly correlated to bound haemichromes, suggesting a causal relation, but was poorly related to serum non-transferrin iron, which seems to contribute little to damage from outside the cells. The spleen played an important role in the removal of cells with more membrane iron. PMID:11167782

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

    PubMed

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

    1988-11-01

    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 thalassaemia major, who presented before the 18th week of pregnancy. Six couples at risk for sickle cell anaemia accepted prenatal diagnosis in 10 pregnancies, as did both couples at risk for thalassaemia. Couples who were eligible for prenatal diagnosis but refused it tended not to have been informed about sickle cell disease before counselling, one partner was more frequently absent at the time of the initial counselling session, or they either had no children with sickle cell disease or the children were not severely affected. Other factors influencing their decision included a poor obstetric history and rejection of abortion, mainly on moral grounds. The approximately 50% uptake of prenatal diagnosis in this initial study highlights the complex issues involved. Our experience indicates that with systematic screening and counselling in the antenatal clinic, and with increased awareness of the haemoglobinopathies, couples at risk will be in a better position to make informed decisions. PMID:3236357

  4. [Beta thalassemia: motivation for screening in Terni].

    PubMed

    Fatati, G; Palazzesi, G P; Cassetti, M; Lorenzoni, L; Coaccioli, S; Puxeddu, A

    1984-11-10

    There are no definitive data on the frequency of beta-thalassaemia in the Province of Terni; a mass screening programme has not been carried out. Preliminary studies confirm that there is a strong incidence of beta-thalassaemia heterozygotes. A theory can be put forward for the presence of beta-thalassaemia trait, based on the notion of the multicentric genesis of the disorder: the malaria may have been the dominant selective factor. PMID:6514214

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

    PubMed

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

    2003-05-01

    PGD represents an alternative within prenatal diagnosis services, which avoids terminating affected on-going pregnancies. In Greece, prevention programmes for haemoglobinopathies, including the option of prenatal diagnosis, are well established. Following optimization of a single-cell genotyping strategy (designed to be applicable for the majority of beta-thalassaemia major or sickle thalassaemia genotype interactions) along with close collaboration with an IVF unit, we integrated the option of PGD for at-risk couples with a problematic reproductive history. A total of 59 couples requesting PGD were counselled, of whom 41 initiated 63 PGD cycles. Following standard assisted reproduction treatment for oocyte retrieval, 20 cycles were cancelled (too few oocytes and/or poor quality embryos), but in 43 cycles single blastomeres were biopsied from 3 day embryos and genotyped (total 302). Diagnosis was achieved for 236 embryos, and 100 of 125 unaffected embryos were transferred. Sixteen pregnancies were established, although six were lost within the first trimester. Ten pregnancies underwent second trimester prenatal diagnosis, with nine pregnancies (13 babies: six singletons, two twins and one triplet) confirmed unaffected, although one singleton was a PGD misdiagnosis and terminated. The triplet pregnancy was selectively reduced to twins, and nine pregnancies went to term, with 12 healthy babies born. This report highlights advantages, limitations and approaches towards improvement when incorporating PGD within genetic services for a common recessive disease. PMID:12728023

  6. Gamma delta beta-thalassaemias 1 and 2 are the result of a 100 kbp deletion in the human beta-globin cluster.

    PubMed Central

    Taramelli, R; Kioussis, D; Vanin, E; Bartram, K; Groffen, J; Hurst, J; Grosveld, F G

    1986-01-01

    The DNA spanning two large deletions in the human beta-globin gene cluster (gamma beta-thalassaemia 1 and 2) has been cloned by cosmid cloning and chromosomal walking. The entire region was mapped and analyzed for the presence of repetitive sequences. The results show that the affected loci have lost almost 100 kb of DNA in a deletion event not involving homologous or repetitive sequences. Images PMID:3763397

  7. Loss of phospholipid membrane asymmetry and sialylated glycoconjugates from erythrocyte surface in haemoglobin E beta-thalassaemia.

    PubMed

    Basu, Sumanta; Banerjee, Debasis; Chandra, Sarmila; Chakrabarti, Abhijit

    2008-04-01

    This study aimed to investigate any correlation between the extent of phosphatidylserine (PS) asymmetry and sialylated glycoconjugate levels with the faster clearance of circulating erythrocytes in haemoglobin E (HbE) beta-thalassaemia. Erythrocytes from peripheral blood samples of different HbEbeta-thalassaemia patients showed loss of PS asymmetry measured by annexin V binding using flow cytometry. Maximum PS exposure was found when HbE was 50-60% and HbF was <20% indicating a possible correlation with severity of the disease. Separation of erythrocytes into aged and younger cells showed higher loss of PS asymmetry in the younger erythrocytes of HbEbeta-thalassaemia patients when compared with normal blood, where PS asymmetry was lost only in the older cells. Sialylated glycoconjugate measurement using the lectins wheatgerm agglutinin and pokeweed mitogen showed loss of sialic acid and N-acetyl-D-glucosamine-bearing glycoproteins in the order normal

  8. Prenatal diagnosis of beta-thalassaemia in Pakistan: experience in a Muslim country.

    PubMed

    Ahmed, S; Saleem, M; Sultana, N; Raashid, Y; Waqar, A; Anwar, M; Modell, B; Karamat, K A; Petrou, M

    2000-05-01

    A service for prenatal diagnosis of beta-thalassaemia was introduced in Pakistan in May 1994. Two renowned Islamic scholars, consulted before the service was introduced, ruled that a pregnancy can be terminated if the fetus is affected by a serious genetic disorder, and if termination is before 120 days (17 weeks) of gestation. During the first 3(1/2) years of the service 300 couples requested the test. Almost all the couples had been informed by their treating doctors. Most diagnoses were made between 10 and 16 weeks of gestation, and only 15 (5%) were reached after the 16th week. DNA analysis was by the amplification refractory mutation system (ARMS). A multiplex ARMS was developed in which three primer combinations identified the mutations in 91.5% of the couples. In 13 couples (4. 3%) linkage analysis was required for the fetal diagnosis. In 47/53 (88.7%) women carrying an affected fetus the pregnancy was terminated. In six cases it was declined principally on religious grounds. Postnatal confirmation of the prenatal diagnosis was possible in 117 unaffected children. One year after the start of the service, interviews with 141 couples with an affected child showed that 72% knew of the availability of prenatal diagnosis. Thirty-two of the informed couples had had a pregnancy, but only 18 (56%) used prenatal diagnosis. The main reasons for non-utilization of prenatal diagnosis were the cost of the test and fear of undergoing the test, though some gave no clear explanation. This study demonstrates that prenatal diagnosis is feasible and acceptable in a Muslim country such as Pakistan. PMID:10820404

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

    PubMed Central

    2014-01-01

    Background Iron may damage sarcomeric proteins through oxidative stress. We explored the left ventricular (LV) torsional mechanics in patients with beta-thalassaemia major and its relationship to myocardial iron load. Using HL-1 cell and B6D2F1 mouse models, we further determined the impact of iron load on proteolysis of the giant sarcomeric protein titin. Methods and results In 44 thalassaemia patients aged 25??7 years and 38 healthy subjects, LV torsion and twisting velocities were determined at rest using speckle tracking echocardiography. Changes in LV torsional parameters during submaximal exercise testing were further assessed in 32 patients and 17 controls. Compared with controls, patients had significantly reduced LV apical rotation, torsion, systolic twisting velocity, and diastolic untwisting velocity. T2* cardiac magnetic resonance findings correlated with resting diastolic untwisting velocity. The increments from baseline and resultant LV torsion and systolic and diastolic untwisting velocities during exercise were significantly lower in patients than controls. Significant correlations existed between LV systolic torsion and diastolic untwisting velocities in patients and controls, both at rest and during exercise. In HL-1 cells and ventricular myocardium of B6D2F1 mice overloaded with iron, the titin-stained pattern of sarcomeric structure became disrupted. Gel electrophoresis of iron-overloaded mouse myocardial tissue further showed significant decrease in the amount of titin isoforms and increase in titin degradation products. Conclusions Resting and dynamic LV torsional mechanics is impaired in patients with beta-thalassaemia major. Cell and animal models suggest a potential role of titin degradation in iron overload-induced alteration of LV torsional mechanics. PMID:24725620

  10. Thalassaemia Intermedia: an Update

    PubMed Central

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

    2009-01-01

    Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with thalassaemia intermedia (TI) has substantially increased over the past decade. TI encompasses a wide clinical spectrum of beta-thalassaemia phenotypes. Some TI patients are asymptomatic until adult life, whereas others are symptomatic from as young as 2 years of age. A number of clinical complications commonly associated with TI are rarely seen in thalassaemia major, including extramedullary hematopoiesis, leg ulcers, gallstones, thrombosis and pulmonary hypertension. There are a number of options currently available for managing patients with TI, including transfusion therapy, iron chelation therapy, modulation of foetal haemoglobin production and haematopoietic stem cell transplantation. However, at present, there are no clear guidelines for an orchestrated optimal treatment plan. PMID:21415986

  11. Biochemical markers of bone turnover and bone mineral density in patients with beta-thalassaemia major.

    PubMed

    Eren, E; Yilmaz, N

    2005-01-01

    In this study, bone formation markers (bone-specific alkaline phosphatase and osteocalcin) and bone resorption markers (pyridinoline and deoxypyridinoline) were analysed. Bone formation, as evidenced by the levels of serum alkaline phosphatase and osteocalcin, did not appear to be impaired, while bone resorption was grossly increased in all patient groups. The decrease of bone mineral density values was more prominent in the lumbar spine, thus making this site particularly interesting for such studies. The patients had significantly lower femoral neck and lumbar spine bone mineral density when compared with control (all p <0.001). Our conclusion is that, in spite of the severe bone destruction that occurs in thalassaemia major, the fact that bone formation remains intact calls for a more intensive treatment. PMID:15707464

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

    PubMed Central

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

    1977-01-01

    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. PMID:915018

  13. Evaluation of the validity of Hb A2 and mean corpuscular haemoglobin action values in antenatal screening for beta thalassaemia carriers in England.

    PubMed

    Daniel, Yvonne; Cartwright, Ronwyn; Rennie, Kristian; Streetly, Allison; Howard, Jo

    2014-08-01

    National antenatal screening of all pregnant women in England is carried out using standards and guidelines produced by the National Health Service Sickle Cell and Thalassaemia Screening Programme. The algorithms for detection of beta thalassaemia carrier status rely on action criteria, which are set using the percentage Hb A2 and mean corpuscular haemoglobin (MCH) values. Three groups of samples: MCH <27 pg and Hb A2 35-39%, MCH ?27 pg and Hb A2 4-43% and MCH ?27 pg and Hb A2 35-39% were selected from a sample population of 59 500 to assess the validity and predictive value of the action criteria - 25 false positives (0042% of total) and nine false negatives (0015% of total) were detected. These findings support the continuation of the current action values. PMID:24754789

  14. Complex preimplantation genetic diagnosis for beta-thalassaemia, sideroblastic anaemia, and human leukocyte antigen (HLA)-typing.

    PubMed

    Kakourou, Georgia; Vrettou, Christina; Kattamis, Antonis; Destouni, Aspasia; Poulou, Myrto; Moutafi, Maria; Kokkali, Georgia; Pantos, Konstantinos; Davies, Stephen; Kitsiou-Tzeli, Sophia; Kanavakis, Emmanuel; Traeger-Synodinos, Joanne

    2016-02-01

    Preimplantation genetic diagnosis (PGD) to select histocompatible siblings to facilitate curative haematopoeitic stem-cell transplantation (HSCT) is now an acceptable option in the absence of an available human leukocyte antigen (HLA) compatible donor. We describe a case where the couple who requested HLA-PGD, were both carriers of two serious haematological diseases, beta-thalassaemia and sideroblastic anaemia. Their daughter, affected with sideroblastic anaemia, was programmed to have HSCT. A multiplex-fluorescent-touchdown-PCR protocol was optimized for the simultaneous amplification of: the two HBB-gene mutated regions (c.118C?>?T, c.25-26delAA), four short tandem repeats (STRs) in chr11p15.5 linked to the HBB gene, the SLC25A38 gene mutation (c.726C?>?T), two STRs in chr3p22.1 linked to the SLC25A38 gene, plus eleven informative STRs for HLA-haplotyping (chr6p22.1-21.3). This was followed by real-time nested PCR and high-resolution melting analysis (HRMA) for the detection of HBB and SLC25A38 gene mutations, as well as the analysis of all STRs on an automatic genetic analyzer (sequencer). The couple completed four clinical in vitro fertilization (IVF)/PGD cycles. At least one matched unaffected embryo was identified and transferred in each cycle. A twin pregnancy was established in the fourth PGD cycle and genotyping results at all loci were confirmed by prenatal diagnosis. Two healthy baby girls were delivered at week 38 of pregnancy. The need to exclude two familial disorders for HLA-PGD is rarely encountered. The methodological approach described here is fast, accurate, clinically-validated, and of relatively low cost. PMID:26636621

  15. Activated platelet-derived microparticles in thalassaemia.

    PubMed

    Pattanapanyasat, Kovit; Gonwong, Siriphan; Chaichompoo, Porntip; Noulsri, Egarit; Lerdwana, Surada; Sukapirom, Kasama; Siritanaratkul, Noppadol; Fucharoen, Suthat

    2007-02-01

    Thromboembolic complications have been documented in thalassaemia patients. The aggregability of abnormal red blood cells and the high level of membrane-derived microparticles (MPs) stemming from blood cells are thought to be responsible for the associated thrombotic risk. We investigated the number of MPs, their cellular origin and their procoagulant properties in beta-thalassaemia. Fresh whole blood was simultaneously stained for annexin V, cellular antigens and the known density beads. The procoagulant properties of these phosphatidylserine (PS)-bearing MPs were also measured by assessing the platelet factor-3-like activity in the blood. Flow cytometric results showed that splenectomised beta-thalassaemia/HbE patients had significantly higher levels of PS-bearing MPs than non-splenectomised beta-thalassaemia/HbE patients and normal individuals (P < 0.0001). There was a good correlation between PS-bearing MPs and PS-bearing platelets, reflecting the existence of chronic platelet activation in beta-thalassaemia/HbE patients (r(s) = 0.511, P < 0.001). The cellular origin of PS-bearing MPs showed mostly activated-platelet origin with adhesion (CD41a/CD62P/CD36). Moreover, the platelet procoagulant activity was higher in splenectomised beta-thalassaemia/HbE patients when compared with non-splenectomised (P < 0.05) and normal individuals (P < 0.01), and the amount correlated with PS-bearing MPs (rs = 0.560, P < 0.001). These findings suggest that MPs originate from activated platelets with a potential to aggravate thrombotic events when the numbers are excessive, as is commonly seen in splenectomised beta-thalassaemia/HbE patients. PMID:17278261

  16. Thalassaemia trait, red blood cell age and oxidant stress: effects on Plasmodium falciparum growth and sensitivity to artemisinin.

    PubMed

    Senok, A C; Nelson, E A; Li, K; Oppenheimer, S J

    1997-01-01

    Knowledge of innate mechanisms of protection against malaria could be used to bolster the existing limited treatments. Oxidant stress may play a role in the protective mechanism and the effect of red blood cell (RBC) age has recently been recognized. This study investigated the role of oxidant stress in the protection against malaria in thalassaemic trait RBC (alpha and beta) using an experimental approach which controlled for cell age. 'Young', 'intermediate' and 'old' RBC obtained by Percoll fractionation and whole blood were used to set up malaria cultures. Antioxidants (vitamin E and dithiothreitol) and pro-oxidants (riboflavin, menadione and artemisinin) were added to modulate oxidant stress effect. Antioxidants improved parasite growth. The degree of improvement was significantly greater with increasing RBC age (P < 0.0001), and relatively greater in thalassaemic RBC (P < 0.0001). Pro-oxidants had a parasiticidal effect. With the exception of the 'old' RBC fraction, the median inhibitory concentration (IC50) for riboflavin and menadione was significantly higher in normal RBC. In contrast, the IC50 for artemisinin was significantly higher in 'old' thalassaemic RBC but was similar in the 'young' and 'intermediate' fractions and whole blood. These findings suggest that oxidant stress plays a role in mediating the protection against malaria in thalassaemic RBC. Vitamin E and other antioxidant supplementation could feasibly exacerbate clinical malaria. Conversely, pro-oxidant agents could act as useful adjuvants to therapy. It is important to confirm the reduced sensitivity to artemisinin in 'old' thalassaemic trait RBC, as such an effect may promote selective pressure for the emergence of resistant parasite strains with widespread use of artemisinin. PMID:9463675

  17. Taxonomic, phylogenetic, and trait Beta diversity in South American hummingbirds.

    PubMed

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

    2014-08-01

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

  18. Secondary diabetes in children with thalassaemia major (homozygous thalassaemia).

    PubMed

    Karahanyan, E; Stoyanova, A; Moumdzhiev, I; Ivanov, I

    1994-01-01

    Life expectancy of patients suffering from homozygous beta-thalassaemia has been improved due to the modern treatment of this disease. This has allowed development of late hemosiderosis-related complications and disturbances of the endocrine and exocrine functions of the pancreas. Carbohydrate metabolism of 16 patients with thalassaemia major was studied. Three of them presented with a pronounced clinical picture and biochemical constellations of a severe diabetes mellitus. The remainder had no clinical symptoms of carbohydrate metabolism disorders. The pancreatic beta-cell function of the patients was assessed by measuring the serum concentrations of immunoreactive insulin and by a glucose tolerance test. Most patients showed very low basal insulin levels while glucose tolerance was reduced in only one of them. In this patient we also established delayed insulin response after an intravenous glucose load. We concluded that the disturbed insulin secretion found in the children studied is most likely the earliest manifestation of the pancreatic beta-cell insufficiency which precedes the changes in the glucose tolerance. PMID:7867989

  19. Running up the scale: From plant traits to beta diversity

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Landscape ecologists often consider a hierarchy of scales, from individual species to communities to landscapes. Beta diversity can anchor a conceptual framework linking major concepts in ecology, building from plant physiological and structural traits that determine the fundamental niche, through c...

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

    PubMed

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

    2013-01-01

    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, ?-? and -??; and three non-deletion mutations, Cd59G > A (haemoglobin [Hb] Adana), Cd125T > C (Hb Quong Sze) and Cd142 (Hb Constant Spring). A high incidence of ?-? 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 ?-? deletion. As many as 27 genotypic interactions showed 1023 ? thalassaemia silent carriers, 196 homozygous ?? thalassaemia traits, 973 heterozygous ?? 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

  1. alpha-Thalassaemia in Tunisia: some epidemiological and molecular data.

    PubMed

    Siala, H; Ouali, F; Messaoud, T; Bibi, A; Fattoum, S

    2008-12-01

    Unlike the other haemoglobinopathies, few researches have been published concerning alpha-thalassaemia in Tunisia. The aim of the present work is to acquire further data concerning alpha-thalassaemia prevalence and molecular defects spectrum in Tunisia, by collecting and studying several kinds of samples carrying alpha-thalassaemia. The first survey conducted on 529 cord blood samples using cellulose acetate electrophoresis, have displayed the prevalence of 7.38% Hb Bart's carriers at birth. Molecular analyses were conducted by PCR and DNA sequencing on 20 families' cases from the above survey carrying the Hb Bart's at birth and on 10 Hb H diseased patients. The results showed six alpha-globin gene molecular defects and were responsible for alpha-thalassaemia: -alpha(3.7), - -(MedI), alpha(TSaudi), alpha(2)(cd23GAG->Stop), Hb Greone Hart: alpha(1)(119CCT->TCT) corresponding to 11 genotypes out of which two are responsible for Hb H disease (- -(Med)/-alpha(3.7)) and (alpha(TSaudi)alpha/alpha(TSaudi)alpha) and a newly described polymorphism: alpha+6C->G. The geographical repartition of alpha-thal carriers showed that the -alpha3.7 deletion is distributed all over the country, respectively the alpha(HphI) and alpha(TSaudi) seem to be more frequent in the central region of the northeast region. The haematological and clinical data showed a moderate phenotype with a late age of diagnosis for Hb H disease. This work had permitted, in addition to an overview on alpha-thalassaemia in the country, the optimization of protocols for alpha-thalassaemia detection in our lab, allowing further investigations concerning phenotype-genotype correlation in sickle cell disease or beta-thalassaemia. PMID:19147907

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

    PubMed

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

    2013-11-01

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

  3. Prenatal diagnosis for thalassaemia in a multicultural society.

    PubMed

    Trent, R J; Le, H; Yu, B

    1998-06-01

    The provision of a prenatal diagnosis service for thalassaemia is becoming more demanding. In an ethnically-diverse community, the number of mutations has increased. Requests for prenatal testing continue to come at advanced stage in pregnancy, often without the underlying mutation having been identified. Although controls are included in PCR assays, errors can still occur. The alternative to DNA testing, i.e., an alpha/beta globin chain synthesis ratio on a fetal blood sample, is now less readily available. In the circumstances described, the laboratory must adopt a more efficient and reliable approach to DNA mutation analysis. With currently available technology, this improvement is more likely to come through increased automation. To achieve this aim, we have moved to capillary electrophoresis. With capillary electrophoresis we are able to use a PCR-based screening strategy which can detect up to 11 beta thalassaemia mutations. The actual prenatal test is undertaken using two independent PCRs thereby reducing the potential for error. Despite the advantages of PCR, approximately 12 per cent of beta thalassaemia and about nine per cent of alpha thalassaemia cases require further study in our experience. In this situation, capillary electrophoresis has again proven helpful since a DNA scanning approach, such as single strand conformation polymorphism, can be automated to identify the region of DNA to be sequenced. PMID:9664605

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

    PubMed Central

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

    2013-01-01

    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

  5. Intradermal hepatitis B vaccine in thalassaemia and sickle cell disease.

    PubMed Central

    Mok, Q; Underhill, G; Wonke, B; Aldouri, M; Kelsey, M; Jefferies, D

    1989-01-01

    Thirty two patients with beta thalassaemia and sickle cell disease who were having regular blood transfusions were selected to test the efficacy and immunogenicity of low dose (2 micrograms or 0.1 ml) intradermal hepatitis B vaccine compared with the standard (20 micrograms or 1 ml) intramuscular dose. There was no significant difference in the rates of seroconversion, seroconversion had occurred in all patients by seven months. There were no significant differences in antibody titres between the intramuscular and intradermal groups at 1, 2, and 6 months. Although the titres were significantly higher in the intramuscular group at seven months and at 12-18 months, the antibody titre in the intradermal group did not fall below 10 IU/l. The results of this study suggest that low dose intradermal hepatitis B vaccination is an effective and economical way of stimulating an immune response in patients with beta thalassaemia and sickle cell disease. PMID:2526622

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

    PubMed

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

    2010-04-01

    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

  7. Beta Thalassemia

    MedlinePLUS

    ... chromosomes 11 _ A person with beta thalassemia trait has one abnormal beta globin gene To understand ... one abnormal beta globin gene have beta thalassemia trait (also known as beta thalassemia minor). BETA THALASSEMIA ...

  8. beta-Thalassemia trait and hyperbilirubinemia in G-6-PD deficient newborn infants.

    PubMed

    Meloni, T; Erre, S; Gallisai, D; Cutillo, S

    1980-08-01

    Hb A2 was determined in 50 subjects with erythrocyte G-6-PD deficiency who presented with hyperbilirubinemia in the neonatal period and in 100 non-hyperbilirubinemic G-6-PD deficient newborn infants, at the age of 12 months or more. Six subjects in the first group and 13 in the second were found to be carriers of the beta-thalassemia trait. Statistical analysis of the data did not show any significant difference between the two groups. It seems that the beta-thalassemia trait does not provide any protection against neonatal hyperbilirubinemia associated with G-6-PD deficiency. PMID:7439196

  9. Molecular characterization of ?- and ?-thalassaemia among Malay patients.

    PubMed

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

    2014-01-01

    Both ?- and ?-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the ?- and ?-thalassaemia deletions and mutations among Malays from Penang, Gap-PCR and multiplexed amplification refractory mutation systems were used to study 13 ?-thalassaemia determinants and 20 ?-thalassaemia mutations in 28 and 40 unrelated Malays, respectively. Four ?-thalassaemia deletions and mutations were demonstrated. --SEA deletion and ?CS? accounted for more than 70% of the ?-thalassaemia alleles. Out of the 20 ?-thalassaemia alleles studied, nine different ?-thalassaemia mutations were identified of which ?E accounted for more than 40%. We concluded that the highest prevalence of (?- and ?-thalassaemia alleles in the Malays from Penang are --SEA deletion and ?E mutation, respectively. PMID:24857915

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

    PubMed Central

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

    2014-01-01

    Both ?- and ?-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the ?- and ?-thalassaemia deletions and mutations among Malays from Penang, Gap-PCR and multiplexed amplification refractory mutation systems were used to study 13 ?-thalassaemia determinants and 20 ?-thalassaemia mutations in 28 and 40 unrelated Malays, respectively. Four ?-thalassaemia deletions and mutations were demonstrated. ??SEA deletion and ?CS? accounted for more than 70% of the ?-thalassaemia alleles. Out of the 20 ?-thalassaemia alleles studied, nine different ?-thalassaemia mutations were identified of which ?E accounted for more than 40%. We concluded that the highest prevalence of (?- and ?-thalassaemia alleles in the Malays from Penang are ??SEA deletion and ?E mutation, respectively. PMID:24857915

  11. Live birth following double-factor pre-implantation genetic diagnosis for both reciprocal translocation and alpha-thalassaemia.

    PubMed

    Lee, Vivian C Y; Chow, Judy F C; Lau, Estella Y L; Yeung, William S B; Ng, Ernest H Y

    2014-06-01

    We report a live birth from a couple with two genetic diseases, namely: reciprocal translocation carrier and alpha-thalassaemia trait, following pre-implantation genetic diagnostic tests. This is the first case in Hong Kong in which the technique of using one blastomere biopsy for two diseases was established, using array comparative genomic hybridisation and polymerase chain reaction. PMID:24914077

  12. Observations on the high foetal haemoglobin gene and its interaction with the thalassaemia gene

    PubMed Central

    Barkhan, P.; Adinolfi, M.

    1962-01-01

    A family of mixed Indian-Portuguese ancestry is reported in which there is a hereditary persistence of foetal haemoglobin and β-chain thalassaemia. The propositus, a 17-year-old boy, was found to have a mild haemolytic anaemia characterized by slight splenomegaly, microcytosis, numerous target cells, decreased osmotic fragility, a very high level of foetal haemoglobin (75%), and normal haemoglobin A2 level. Examination of 12 other members of the family showed the following: Three individuals (father, sister, and nephew) had high levels of foetal haemoglobin (25%) but without other clinical or haematological abnormalities. Two individuals (mother and sister) had the features of thalassaemia trait with increased haemoglobin A2 and normal levels of foetal haemoglobin. The condition in the propositus appears to be the result of heterozygosity for a gene which is responsible for the hereditary persistence of foetal haemoglobin (high F gene) combined with heterozygosity for a β-thalassaemia gene and provides further evidence for allelism of these genes. The possible genetic basis for the high F state and β-chain thalassaemia is discussed. Images PMID:13865031

  13. Alpha thalassaemia and response to hydroxyurea in sickle cell anaemia

    PubMed Central

    Nouraie, Mehdi; Taylor, James G; Brugnara, Carlo; Castro, Oswaldo; Ballas, Samir K.

    2014-01-01

    Background Hydroxyurea (HU) reduces vaso-occlusive crises (VOC) and other complications of sickle cell anaemia (SCA). Alpha thalassaemia is a known modifier of SCA. Studies on the efficacy of HU in SCA patients with ?-thalassaemia have yielded varying results. Objective To determine the effect of ?-thalassaemia on response to HU therapy in the Multicenter Study of Hydroxyurea (MSH) cohort. Methods We compared the laboratory parameters and VOC incidence in the MSH cohort stratified by the presence or absence of ?-thalassaemia. Results HU showed significant (p = 0.001 for all baseline vs. follow-up comparisons) treatment effect on red cell indices irrespective of ?-globin gene deletion. The magnitude of the HU-related changes was similar for MCV (no ?-thalassaemia 13 fl, ?-thalassaemia 13 fl), and MCH (no ?-thalassaemia 4 pg, ?-thalassaemia 4 pg) in both groups. Foetal haemoglobin (HbF) and F cells also increased significantly with HU treatment in both groups. Total hemoglobin increased after HU treatment in both groups but the increase was smaller and not statistically significant in ?-thalassaemia patients. In contrast, HU-related reduction of VOCs was more pronounced in patients with ?-thalassaemia (VOC incidence rate ratio HU/placebo: 0.63 for ?-thalassaemia vs. 0.54 for no ?-thalassaemia (p for interaction 0.003). Conclusion HU decreases VOCs in SCA patients with and without ?-thalassaemia and the degree of VOC reduction was more pronounced in the patients with alpha thalassaemia. Despite lower baseline values, changes in standard laboratory parameters such as MCV, and HbF percent remain useful in monitoring HU therapy in presence of ?-thalassaemia. PMID:24330217

  14. Phenotypic expression of hemoglobin A2 in beta-thalassemia trait with iron deficiency.

    PubMed

    Madan, N; Sikka, M; Sharma, S; Rusia, U

    1998-09-01

    Iron status was estimated in 463 heterozygous beta-thalassemics to delineate the effect of iron deficiency on the expression of hemoglobin A2 (HbA2) in these patients. One hundred and twenty-six (27.2%) patients with the trait were iron deficient. These iron-deficient patients had a significantly (p < 0.0002) higher prevalence of anemia (90.5%) compared with iron-replete patients with the trait (71.5%). The mean hemoglobin (Hb) concentration, MCV, and MCH were significantly (p < 0.0001) lower in patients with beta-thalassemia traits (BTT) who had iron deficiency than in those without iron deficiency. Mean RBC count and MCHC did not differ in the two groups. Mean HbA2 was not significantly different in the two groups of patients with the trait and was elevated (>3.5%) in all but one heterozygote investigated. Mean HbA2/cell was significantly (p < 0.05) lower in BTT patients with iron deficiency than in patients without iron deficiency. The presence of iron deficiency did not preclude the detection of BTT in this population. The effect of iron deficiency in BTT was apparent as a significant lowering of the Hb concentration and an increased prevalence of anemia. Iron therapy is warranted for BTT patients with iron-deficiency traits and would help to significantly raise their Hb concentration. The elevation of HbA2 was striking and could be used with reliability in making the diagnosis of BTT even in the presence of iron deficiency. PMID:9797076

  15. Hb lepore/?(0)-thalassaemia with ?(+)-thalassaemia interactions, a potential diagnostic pitfall.

    PubMed

    Alauddin, H; Mohamad Nasir, S; Ahadon, M; Raja Sabudin, R Z A; Ithnin, A; Hussin, N H; Alias, H; Loh, C H; Abdul Latiff, Z; Abdul Murad, N A; Othman, A

    2015-12-01

    Haemoglobin (Hb) Lepore is a variant Hb consisting of two ?-globin and two ??-globin chains. In a heterozygote, it is associated with clinical findings of thalassaemia minor, but interactions with other haemoglobinopathies can lead to various clinical phenotypes and pose diagnostic challenges. We reported a pair of siblings from a Malay family, who presented with pallor and hepatosplenomegaly at the ages of 21 months and 14 months old. The red cell indices and peripheral blood smears of both patients showed features of thalassaemia intermedia. Other laboratory investigations of the patients showed conflicting results. However, laboratory investigation results of the parents had led to a presumptive diagnosis of compound heterozygote Hb Lepore/?-thalassaemia and co-inheritance ?(+)-thalassaemia (-?(3.7)). Hb Lepore has rarely been detected in Southeast Asian countries, particularly in Malaysia. These two cases highlight the importance of family studies for accurate diagnosis, hence appropriate clinical management and genetic counseling. PMID:26712677

  16. In vitro sensitivity of artemeter in Plasmodium falciparum-infected beta-thalassaemic trait erythrocytes.

    PubMed

    Senok, A C; Li, K; Nelson, E A; Chung, K W

    1999-02-01

    Using an age-fractionated RBC model, we investigated the in vitro sensitivity of artemether in beta-thalassaemic RBC infected with the K1 and FC27 strains of Plasmodium falciparum and, to study the role of oxidant stress in modulating the sensitivity pattern, pro-oxidant (riboflavin) and antioxidant (vitamin E) agents were added to cultures in the presence of artemether. With the FC27 strain, the artemether IC50 doses in thalassaemic samples (whole blood and fractions) were significantly higher compared to equivalent normal RBC samples (P < 0.05). However, with the K1 strain, such a significant difference was not demonstrable. The addition of vitamin E reduced the antimalarial effect of artemether in both the FC27 and K1 strains (P < 0.0001). In contrast, the addition of riboflavin resulted in a significant increase in antimalarial activity (P < 0.0001). This effect of the drug combinations was not influenced by the red cell type (P < 0.0001) and there was no interaction between red cell type and drug type (P < 0.0001). These findings show that reduced sensitivity to artemether occurs in whole blood and age-fractionated beta-thalassaemic trait RBC. It appears that the RBC redox status does not influence the sensitivity to artemether. PMID:10028528

  17. Modulation of the defective natural killer activity seen in thalassaemia major with desferrioxamine and alpha-interferon.

    PubMed Central

    Akbar, A N; Fitzgerald-Bocarsly, P A; Giardina, P J; Hilgartner, M W; Grady, R W

    1987-01-01

    We previously observed that natural killer (NK) activity toward K562 cells is markedly depressed in patients with beta-thalassaemia major. Here we report that these patients also exhibit significantly decreased (P less than 0.005) NK cytotoxicity against human fibroblasts infected with herpes simplex virus-type 1 (HSV-1) and that the amount of alpha-interferon (alpha-IFN) generated during the latter assays is significantly less than normal (P less than 0.005). This decreased production of alpha-IFN may account in part for the decreased NK activity seen in the thalassaemia patients. On the other hand, the cytotoxicity of their mononuclear cells (MNC) toward both K562 cells and HSV-1-infected fibroblasts could be augmented to the same extent as that of normal MNC by preincubation with alpha-IFN suggesting that thalassaemia MNC are capable of responding to this lymphokine despite their reduced ability to produce it. Moreover, preincubation of thalassaemia MNC with desferrioxamine (DFO), an iron-chelating agent, consistently increased the lysis of K562 cells indicating that the transfusion-induced iron overload which these patients experience may also contribute to the defective NK function seen in this disease. We have now found that preincubation of such MNC with DFO has no effect upon production of alpha-IFN when the MNC are cocultured with either HSV-1-infected fibroblasts or K562 cells. Combining DFO and alpha-IFN resulted in an increase in the NK activity of both normal and thalassaemia MNC against the two targets which was greater than that with alpha-IFN alone. In fact, preincubation of thalassaemia cells with this combination increased their NK activity toward K562 targets to that of untreated normal cells. This was true when either unfractionated MNC or NK-enriched fractions were used as effector cells. These results suggest that DFO and alpha-IFN enhance NK activity by different mechanisms, both of which appear to be reversibly impaired in thalassaemia patients. PMID:3427826

  18. Spinal epidural extramedullary haematopoiesis in ?-thalassaemia intermedia

    PubMed Central

    Wong, Kin Hoi; Li, Allen; Lui, Tun Hing; Sit, Yan Kit

    2014-01-01

    A 22-year-old man known to have ?-thalassaemia intermedia since childhood presented with bilateral lower limb weakness after spinal anaesthesia for an elective minor operation of his left leg. MRI and CT scans were performed to rule out acute epidural haematoma; coincidental imaging features of marrow hyperplasia and spinal epidural extramedullary haematopoiesis were found. This article will present and discuss the imaging features, differential diagnosis, management and literature review of the rare occurrence of extramedullary haematopoiesis in the spinal epidural space. PMID:24390965

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

    PubMed Central

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

    2014-01-01

    Background. The two most frequent types of microcytic anemia are beta thalassemia trait (?-TT) and iron deficiency anemia (IDA). We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and ?-TT in the same patient groups. Methods. A total of 290 carefully selected children aged 1.116 years were evaluated. We calculated 12 discrimination indices in all patients with hemoglobin (Hb) values of 8.711.4?g/dL. None of the subjects had a combined case of IDA and ?-TT. All children with IDA received oral iron for 16 weeks, and HbA2 screening was performed after iron therapy. The patient groups were evaluated according to red blood cell (RBC) count; red blood distribution width index; the Mentzer, Shine and Lal, England and Fraser, Srivastava and Bevington, Green and King, Ricerca, Sirdah, and Ehsani indices; mean density of hemoglobin/liter of blood; and mean cell density of hemoglobin. Results. The Mentzer index was the most reliable index, as it had the highest sensitivity (98.7%), specificity (82.3%), and Youden's index (81%) for detecting ?-TT; this was followed by the Ehsani index (94.8%, 73.5%, and 68.3%, resp.) and RBC count (94.8%, 70.5%, and 65.3%). Conclusion. The Mentzer index provided the highest reliabilities for differentiating ?-TT from IDA. PMID:24818016

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

    PubMed Central

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

    2014-01-01

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

  1. Increased leucocyte apoptosis in transfused ?-thalassaemia patients

    PubMed Central

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

    2015-01-01

    Summary This exploratory study assessed apoptosis in peripheral blood leucocytes (PBL) from ?-thalassaemia patients receiving chronic transfusions and chelation therapy (deferasirox or deferoxamine) at baseline, 1, 6, and 12 months. At baseline, thalassaemic PBLs presented 50% greater levels of Bax (BAX), 75% higher caspase-3/7, 48% higher caspase-8 and 88% higher caspase-9 activities and 428% more nucleosomal DNA fragmentation than control subjects. Only neutrophils correlated significantly with apoptotic markers. Previously, we showed that over the treatment year, hepatic iron declined; we now show that the ratio of Bax/Bcl-2 (BCL2), (?27.3%/year), and caspase-9 activity (?13.3%/year) declined in both treatment groups, suggesting that chelation decreases body iron and indicators of PBL apoptosis. PMID:23216540

  2. The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β(0) -thalassaemia homozygotes.

    PubMed

    Jiang, Zhihua; Luo, Hong-Yuan; Huang, Shengwen; Farrell, John J; Davis, Lance; Théberge, Roger; Benson, Katherine A; Riolueang, Suchada; Viprakasit, Vip; Al-Allawi, Nasir A S; Ünal, Sule; Gümrük, Fatma; Akar, Nejat; Başak, A Nazli; Osorio, Leonor; Badens, Catherine; Pissard, Serge; Joly, Philippe; Campbell, Andrew D; Gallagher, Patrick G; Steinberg, Martin H; Forget, Bernard G; Chui, David H K

    2016-03-01

    Two 21-year old dizygotic twin men of Iraqi descent were homozygous for HBB codon 8, deletion of two nucleotides (-AA) frame-shift β(0) -thalassaemia mutation (FSC8; HBB:c25_26delAA). Both were clinically well, had splenomegaly, and were never transfused. They had mild microcytic anaemia (Hb 120-130 g/l) and 98% of their haemoglobin was fetal haemoglobin (HbF). Both were carriers of Hph α-thalassaemia mutation. On the three major HbF quantitative trait loci (QTL), the twins were homozygous for G>A HBG2 Xmn1 site at single nucleotide polymorphism (SNP) rs7482144, homozygous for 3-bp deletion HBS1L-MYB intergenic polymorphism (HMIP) at rs66650371, and heterozygous for the A>C BCL11A intron 2 polymorphism at rs766432. These findings were compared with those found in 22 other FSC8 homozygote patients: four presented with thalassaemia intermedia phenotype, and 18 were transfusion dependent. The inheritance of homozygosity for HMIP 3-bp deletion at rs66650371 and heterozygosity for Hph α-thalassaemia mutation was found in the twins and not found in any of the other 22 patients. Further studies are needed to uncover likely additional genetic variants that could contribute to the exceptionally high HbF levels and mild phenotype in these twins. PMID:26771086

  3. Mineral Levels in Thalassaemia Major Patients Using Different Iron Chelators.

    PubMed

    Genc, Gizem Esra; Ozturk, Zeynep; Gumuslu, Saadet; Kupesiz, Alphan

    2016-03-01

    The goal of the present study was to determine the levels of minerals in chronically transfused thalassaemic patients living in Antalya, Turkey and to determine mineral levels in groups using different iron chelators. Three iron chelators deferoxamine, deferiprone and deferasirox have been used to remove iron from patients' tissues. There were contradictory results in the literature about minerals including selenium, zinc, copper, and magnesium in thalassaemia major patients. Blood samples from the 60 thalassaemia major patients (the deferoxamine group, n=19; the deferiprone group, n=20 and the deferasirox group, n=21) and the controls (n=20) were collected. Levels of selenium, zinc, copper, magnesium, and iron were measured, and all of them except iron showed no significant difference between the controls and the patients regardless of chelator type. Serum copper levels in the deferasirox group were lower than those in the control and deferoxamine groups, and serum magnesium levels in the deferasirox group were higher than those in the control, deferoxamine and deferiprone groups. Iron levels in the patient groups were higher than those in the control group, and iron levels showed a significant correlation with selenium and magnesium levels. Different values of minerals in thalassaemia major patients may be the result of different dietary intake, chelator type, or regional differences in where patients live. That is why minerals may be measured in thalassaemia major patients at intervals, and deficient minerals should be replaced. Being careful about levels of copper and magnesium in thalassaemia major patients using deferasirox seems to be beneficial. PMID:26179086

  4. Health related quality of life in Malaysian children with thalassaemia

    PubMed Central

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

    2006-01-01

    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 allowing for age, gender, ethnicity and household income. Methods The PedsQL 4.0 was administered to children receiving blood transfusions and treatments at Hospital Kuala Lumpur, Malaysia using PedsQL 4.0 generic Scale Score. Accordingly, the questionnaire was also administered to a control group of healthy school children. Socio-demographic data were also collected from patients and controls using an interview schedule designed for the study. Results Of the 96 thalassaemia patients approached, 78 gave consent to be interviewed giving a response rate of 81.3%. Out of 235 healthy controls approached, all agreed to participate giving a response rate of 100%. The mean age for the patients and schoolchildren is 11.9 and 13.2 years respectively. The age range for the patients and the schoolchildren is between 5 to 18 years and 7 to 18 years respectively. After controlling for age and demographic background, the thalassaemia patients reported having significantly lower quality of life than the healthy controls. Conclusion Thalassaemia has a negative impact on perceived physical, emotional, social and school functioning in thalassaemia patients which was also found to be worse than the children's healthy counterparts. Continuing support of free desferal from the Ministry of Health should be given to these patients. More understanding and support especially from health authorities, school authorities and the society is essential to enhance their quality of life. PMID:16813662

  5. Dysregulated arginine metabolism and cardiopulmonary dysfunction in patients with thalassaemia.

    PubMed

    Morris, Claudia R; Kim, Hae-Young; Klings, Elizabeth S; Wood, John; Porter, John B; Trachtenberg, Felicia; Sweeters, Nancy; Olivieri, Nancy F; Kwiatkowski, Janet L; Virzi, Lisa; Hassell, Kathryn; Taher, Ali; Neufeld, Ellis J; Thompson, Alexis A; Larkin, Sandra; Suh, Jung H; Vichinsky, Elliott P; Kuypers, Frans A

    2015-06-01

    Pulmonary hypertension (PH) commonly develops in thalassaemia syndromes, but is poorly characterized. The goal of this study was to provide a comprehensive description of the cardiopulmonary and biological profile of patients with thalassaemia at risk for PH. A case-control study of thalassaemia patients at high versus low PH-risk was performed. A single cross-sectional measurement for variables reflecting cardiopulmonary status and biological pathophysiology were obtained, including Doppler-echocardiography, 6-min-walk-test, Borg Dyspnoea Score, New York Heart Association functional class, cardiac magnetic resonance imaging (MRI), chest-computerized tomography, pulmonary function testing and laboratory analyses targeting mechanisms of coagulation, inflammation, haemolysis, adhesion and the arginine-nitric oxide pathway. Twenty-seven thalassaemia patients were evaluated, 14 with an elevated tricuspid-regurgitant-jet-velocity (TRV)?25m/s. Patients with increased TRV had a higher frequency of splenectomy, and significantly larger right atrial size, left atrial volume and left septal-wall thickness on echocardiography and/or MRI, with elevated biomarkers of abnormal coagulation, lactate dehydrogenase (LDH) levels and arginase concentration, and lower arginine-bioavailability compared to low-risk patients. Arginase concentration correlated significantly to several echocardiography/MRI parameters of cardiovascular function in addition to global-arginine-bioavailability and biomarkers of haemolytic rate, including LDH, haemoglobin and bilirubin. Thalassaemia patients with a TRV?25m/s have additional echocardiography and cardiac-MRI parameters suggestive of right and left-sided cardiac dysfunction. In addition, low arginine bioavailability may contribute to cardiopulmonary dysfunction in ?-thalassaemia. PMID:25907665

  6. Frequency distribution of sickle cell anemia, sickle cell trait and sickle/beta-thalassemia among anemic patients in Saudi Arabia

    PubMed Central

    Elsayid, Mohieldin; Al-Shehri, Mohammed Jahman; Alkulaibi, Yasser Abdullah; Alanazi, Abdullah; Qureshi, Shoeb

    2015-01-01

    Background: Notwithstanding, the growing incidence of sickle cell hemoglobinopathies (SCH) such as sickle cell anemia (SCA) or sickle cell disease, sickle/beta-thalassemia; the exact prevalence remains obscure in Saudi Arabia. Hence, this study is an attempt to determine the frequency of SCA and sickle cell trait (SCT) among all anemic patients with SCH treated at the King Abdul-Aziz Medical City (KAMC), Riyadh, Saudi Arabia. Furthermore, the hemoglobin (Hb) S and other Hb patterns (Hb AS and Hb F) were also estimated in SCA and SCT patients. Materials and Methods: Results of Hb capillary electrophoresis performed on all patients with SCH from January 2011 to December 2013 were evaluated retrospectively. Results: Of a total of 3332 patient data analyzed, 307 were anemic patients (58% males and 42% females) with SCH. The sickling test showed all the patients to be positive. Hb electrophoresis revealed the incidence of 96.7%, 3.3%, and 0% of the patients suffered from SCA, SCT and sickle/beta-thalassemia, respectively. Patients with SCA had a higher level of Hb F and showed no crisis when compared with other SCA patients who had lower or no Hb F levels. Conclusion: SCA is relatively frequent among males (56.4%) than females out of all patients with SCH. The SCA incidence was more common (48.5%) among children, frequency of SCT among adult age group was 1.6%, while sickle/beta-thalassemia was 0%. PMID:26604627

  7. Effect of casein genes - beta-LGB, DGAT1, GH, and LHR - on milk production and milk composition traits in crossbred Holsteins.

    PubMed

    Molee, A; Poompramun, C; Mernkrathoke, P

    2015-01-01

    The objectives of this study were to determine the effects of a single gene and composite genotype of the casein gene family, including the beta-lactoglobulin gene (beta-LGB), acyl-CoA: diacylglycerol acyltransferase 1 gene (DGAT1), growth hormone gene (GH), and luteinizing hormone receptor gene (LHR) on milk yield, milk composition, the percentage of fat, protein, solids-not-fat, and total solid in crossbred Holsteins. A total of 231 crossbred Holstein cows were examined for the study. The genotype of the beta-casein gene was analyzed by allele-specific polymerase chain reaction, while the alpha-S1, alpha-S2, kappa-casein, DGAT1, beta-LGB, and GH genes were analyzed using a polymerase chain reaction-restriction fragment length polymorphism assay. The association between genes and milk yield and milk composition was analyzed. Three pairs of genes, for which significant associations were detected, were beta + kappa-casein, DGAT1 + beta-casein, and GH + beta-LGB. In the single-gene model, most loci are significantly associated with traits. A significant association between the composite genotype and the traits was detected in all composite genotypes. GH + beta-LGB appears to be the most suitable variants for improving milk production and percentage of milk protein. Overall, the effects of the composite genotype and single gene were different. A physical or functional relationship between genes is necessary for investigating gene markers. PMID:25867403

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

    PubMed Central

    2011-01-01

    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 (α-thalassaemia) or life-long blood transfusions for survival in β-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. PMID:21447191

  9. Screening and genetic counseling for beta-thalassemia trait in a population unselected for interest: comparison of three counseling methods.

    PubMed Central

    Rowley, P T; Lipkin, M; Fisher, L

    1984-01-01

    We have assessed the effects of screening and genetic counseling for beta-thalassemia trait on knowledge, attitudes, and behavior in a prospective, controlled study of randomly selected adult members of a health maintenance organization. We report here that knowledge of manifestations and of inheritance of thalassemia, previously reported to be high immediately after counseling, were well maintained at 2 and 10 months following counseling. There was no detectable impairment of self-concept. Marital adjustment improved, and sexual activity increased significantly. Mood, assessed immediately before and after counseling, showed no undesirable changes. A patient-structured counseling method, designed to minimize negative psychological effects via discussion of feelings, was not superior to conventional and programmed methods, described in our previous reports, in terms of learning or attitude change. PMID:6731441

  10. Oxidative stress in ?-thalassaemia and sickle cell disease.

    PubMed

    Voskou, S; Aslan, M; Fanis, P; Phylactides, M; Kleanthous, M

    2015-12-01

    Sickle cell disease and ?-thalassaemia are inherited haemoglobinopathies resulting in structural and quantitative changes in the ?-globin chain. These changes lead to instability of the generated haemoglobin or to globin chain imbalance, which in turn impact the oxidative environment both intracellularly and extracellularly. The ensuing oxidative stress and the inability of the body to adequately overcome it are, to a large extent, responsible for the pathophysiology of these diseases. This article provides an overview of the main players and control mechanisms involved in the establishment of oxidative stress in these haemoglobinopathies. PMID:26285072

  11. Oxidative stress in ?-thalassaemia and sickle cell disease

    PubMed Central

    Voskou, S.; Aslan, M.; Fanis, P.; Phylactides, M.; Kleanthous, M.

    2015-01-01

    Sickle cell disease and ?-thalassaemia are inherited haemoglobinopathies resulting in structural and quantitative changes in the ?-globin chain. These changes lead to instability of the generated haemoglobin or to globin chain imbalance, which in turn impact the oxidative environment both intracellularly and extracellularly. The ensuing oxidative stress and the inability of the body to adequately overcome it are, to a large extent, responsible for the pathophysiology of these diseases. This article provides an overview of the main players and control mechanisms involved in the establishment of oxidative stress in these haemoglobinopathies. PMID:26285072

  12. The alpha-chain-termination mutants and their relation to the alpha-thalassaemias.

    PubMed

    Weatherall, D J; Clegg, J B

    1975-08-01

    The structure, synthesis, genetic transmission, clinical associations and distribution of the elongated alpha-chain haemoglobin variants has been described. The data indicate that the most likely molecular basis for these common abnormal haemoglobins is a single base substitution in the alpha-chain termination codon. Because these variants are produced inefficiently they give rise to the clinical picture of alpha-thalassaemia. When these findings are taken together with recent work regarding the molecular basis for other forms of alpha-thalassaemia it is possible to build up a fairly complete picture of the molecular pathology of the alpha-thalassaemias. PMID:240178

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

    PubMed Central

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

    1972-01-01

    Two Ghanaian women with sickle-cell anaemia and ?-thalassaemia were found to have an unusually benign obstetric history. In addition to two factors present which are known to moderate the clinical course of sickle-cell anaemia, good socioeconomic status and a relatively high Hb F level, it is suggested that ?-thalassaemia may act among other things by lowering the haemoglobin concentration in the red cells and thereby lowering their tendency to sickle in vivo. PMID:4642791

  14. Mutation screening for thalassaemia in the Jino ethnic minority population of Yunnan Province, Southwest China

    PubMed Central

    Wang, Shiyun; Zhang, Rong; Xiang, Guangxin; Li, Yang; Hou, Xuhong; Jiang, Fusong; Jiang, Feng; Hu, Cheng; Jia, Weiping

    2015-01-01

    Objectives This study aimed to detect ?- and ?-thalassaemia mutations in the Jino ethnic minority population of Yunnan Province, Southwest China. Design A total of 1613 Jino adults were continuously recruited from February 2012 to April 2012. Fasting venous blood samples were obtained to determine haematological variables. Haemoglobin analysis was conducted using high-performance liquid chromatography. Participants with hypochromic microcytic anaemia or positive haemoglobin analysis profiles were confirmed by ?- and ?-globin genetic testing, including DNA microarray analysis, direct sequencing methods and multiplex gap-PCR assays. Setting Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital. Results We found 363 suspected cases by primary screening of haematological variables and haemoglobin analysis. After further genetic testing, four types of ?- and ?-thalassaemia mutation were detected in 203 out of 363 individuals. Both ?0- and ?+-thalassaemia mutations, --SEA and -?3.7, were identified. ?-Thalassaemia mutations included CD17 (HBB:c.52A>T) and CD26 (HbE or HBB:c.79G>A). In addition, 13 HbE carriers had coexisting ?0- or ?+-thalassaemia deletions. Clinical haematological variables indicated that, in this study, carriers of all thalassaemic genotypes had more severe hypochromic microcytic anaemia than non-thalassaemic individuals. Conclusions Our results provide information on the Jino ethnic minority that may be useful for further genetic counselling, prenatal screening and clinical diagnosis of thalassaemia in this region. PMID:26715484

  15. 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

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

    1981-01-01

    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.

  16. Use of Iron Chelating Agents in Transfusion Dependent Thalassaemia Major Patients.

    PubMed

    Santra, S; Bhattacharya, A; Mukhopadhyay, T; Agrawal, D; Kumar, S; Das, P; Chakrabarty, P

    2015-10-01

    This cross-sectional study was done to find and investigate the utilization pattern of iron chelating agents among 73 transfusion-dependent thalassaemia major patients with continuous enrolment for at least 1 year in a day care treatment centre run by The Thalassaemia Society of India, Kolkata from November 2014 to January 2015. Transfusion dependent thalassaemia major patients above the age of 2 years managed by various haematologists and Thalassaemia specialists were studied. The administration of iron chelators namely Desferrioxamine (DFO), Deferiprone (DFP) and Deferasirox (DFX) were evaluated. Forty seven (64%) of the thalassaemics had serum ferritin level below 2500 ng/dl, of whom 20(27%) patients have ferritin level below 1000ng/dl. A number of 55(75%) of 73 patients who were treated with a single chelating agent consisted 50 patients only on DFX. Exact 8(67%) patients were on DFO+DFP and 4(33%) are treated with DFX+DFP. The mean age was 19 and mean serum ferritin level was 2280 ng/dl among the thalassaemia major patients. DFX was used 68% of patients as monotherapy and 5% patients in combination therapy with DFP. DFX in the dose of 30-40 mg/kg/day was prescribed in 52% of patients. Mean dose of 15 mg/kg/day of DFX was been administered in combination with DFP (75 mg/kg/day) in 5% patients. DFO+DFP were preferred by 8 patients, out of which 6 were aged above 25. Cost of monotherapy is twice that of combination therapy. These data demonstrates the ferritin status and present scenario of utilization of chelating agents among thalassaemia major patients on repeated transfusions. The dosing of new drug, Deferasirox and the cost analysis of various chelating regimen has also been dealt. Individualization rather than rationalization of chelation therapy should be focussed upon in managing iron overload in thalassaemia. PMID:26620028

  17. Oxidative stress and inflammation in iron-overloaded patients with β-thalassaemia or sickle cell disease

    PubMed Central

    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

    Summary Blood transfusion therapy is life-saving for patients with β-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 α-tocopherol was significantly decreased by at least 32% in both thalassaemia and SCD, indicating ongoing oxidant stress and antioxidant consumption, γ-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 γ-tocopherol. This supports the hypothesis that the biology of SCD may show increased inflammation and increased levels of protective antioxidants compared with thalassaemia. PMID:17010049

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

    PubMed

    Sui, Suli; Sleeboom-Faulkner, Margaret

    2010-02-01

    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

  19. Disappearing large calcified thoracic disc herniation in a patient with thalassaemia.

    PubMed

    Ahmad, Faiz U; Schallert, Erica; Bregy, Amade; Post, Judith D; Vanni, Steven

    2016-01-01

    Regression of herniated disc fragments with subsequent improvement in clinical symptoms has been reported in the lumbar and cervical spine. Such regressions in the thoracic spine are extremely rare. We report a case of a 38-year-old patient with thalassaemia who had regression of a large calcified herniated thoracic disc causing cord compression, with subsequent herniation of a second calcified disc at a different level and discuss the possible aetiopathogenesis. This is the first such case reported in the thalassaemia population. PMID:26823353

  20. Erythrocyte Catalase Activity in More Frequent Microcytic Hypochromic Anemia: Beta-Thalassemia Trait and Iron Deficiency Anemia

    PubMed Central

    Lazarte, Sandra Stella; Mnaco, Mara Eugenia; Jimenez, Cecilia Laura; Ledesma Achem, Miryam Emilse; Tern, Magdalena Mara; Iss, Blanca Alicia

    2015-01-01

    Most common microcytic hypochromic anemias are iron deficiency anemia (IDA) and ?-thalassemia trait (BTT), in which oxidative stress (OxS) has an essential role. Catalase causes detoxification of H2O2 in cells, and it is an indispensable antioxidant enzyme. The study was designed to measure erythrocyte catalase activity (ECAT) in patients with IDA (10) or BTT (21), to relate it with thalassemia mutation type (?0 or ?+) and to compare it with normal subjects (67). Ninety-eight individuals were analyzed since September 2013 to June 2014 in Tucumn, Argentina. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2, catalase, and iron status were performed. ?-thalassemic mutations were determined by real-time PCR. Normal range for ECAT was 70,0130,0?MU/L. ECAT was increased in 14% (3/21) of BTT subjects and decreased in 40% (4/10) of those with IDA. No significant difference (p = 0,245) was shown between normal and BTT groups, while between IDA and normal groups the difference was proved to be significant (p = 0,000). In ?0 and ?+ groups, no significant difference (p = 0,359) was observed. An altered ECAT was detected in IDA and BTT. These results will help to clarify how the catalase activity works in these anemia types. PMID:26527217

  1. Thalassaemia in children: from quality of care to quality of life.

    PubMed

    Amid, Ali; Saliba, Antoine N; Taher, Ali T; Klaassen, Robert J

    2015-11-01

    Over the past few decades, there has been a remarkable improvement in the survival of patients with thalassaemia in developed countries. Availability of safe blood transfusions, effective and accessible iron chelating medications, the introduction of new and non-invasive methods of tissue iron assessment and other advances in multidisciplinary care of thalassaemia patients have all contributed to better outcomes. This, however, may not be true for patients who are born in countries where the resources are limited. Unfortunately, transfusion-transmitted infections are still major concerns in these countries where paradoxically thalassaemia is most common. Moreover, oral iron chelators and MRI for monitoring of iron status may not be widely accessible or affordable, which may result in poor compliance and suboptimal iron chelation. All of these limitations will lead to reduced survival and increased thalassaemia-related complications and subsequently will affect the patient's quality of life. In countries with limited resources, together with improvement of clinical care, strategies to control the disease burden, such as public education, screening programmes and appropriate counselling, should be put in place. Much can be done to improve the situation by developing partnerships between developed countries and those with limited resources. Future research should also particularly focus on patient's quality of life as an important outcome of care. PMID:26289062

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

    PubMed

    Azma, Raja Zahratul; Ainoon, Othman; Hafiza, Alauddin; Azlin, Ithnin; Noor Farisah, Abudul Razak; Nor Hidayati, Sardi; Noor Hamidah, Hussin

    2014-04-01

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

  3. Co-Incidence or Co-Existence? Acute Lymphoblastic Leukaemia in HbE-alpha Thalassaemia: A Case Report with Review of Literature

    PubMed Central

    Rajendran, Rithika; Rajendran, Aruna; Scott, Julius Xavier

    2015-01-01

    Haemoglobin E (HbE) is a Haemoglobin variant that commonly occurs in many places in Asia. As ? thalassaemia and ? thalassaemia also occur in the same regions, the co-inheritance of these conditions leads to various phenotypic forms. HbE ? thalassaemia is less common and of a milder phenotype than HbE ? thalassaemia. Though malignancies are one of the complications in thalassaemia, occurrence of leukaemia is a rare event. Here we present a case of a two-year-old male child co-presenting with pre B acute lymphoblastic leukaemia (ALL) with MLL rearrangement and HbE alpha thalassaemia. The child is on remission 12 months post-therapy with standard ALL high risk protocol with no minimal residual disease (MRD). Haematological and oncological conditions coexisting at presentation is a challenge to therapy. This case is described for its rarity. Informed consent has been obtained from the parents. PMID:26672845

  4. Co-Incidence or Co-Existence? Acute Lymphoblastic Leukaemia in HbE-alpha Thalassaemia: A Case Report with Review of Literature.

    PubMed

    Rajendran, Rithika; Suman, Febe Renjitha; Rajendran, Aruna; Scott, Julius Xavier

    2015-11-01

    Haemoglobin E (HbE) is a Haemoglobin variant that commonly occurs in many places in Asia. As ? thalassaemia and ? thalassaemia also occur in the same regions, the co-inheritance of these conditions leads to various phenotypic forms. HbE ? thalassaemia is less common and of a milder phenotype than HbE ? thalassaemia. Though malignancies are one of the complications in thalassaemia, occurrence of leukaemia is a rare event. Here we present a case of a two-year-old male child co-presenting with pre B acute lymphoblastic leukaemia (ALL) with MLL rearrangement and HbE alpha thalassaemia. The child is on remission 12 months post-therapy with standard ALL high risk protocol with no minimal residual disease (MRD). Haematological and oncological conditions coexisting at presentation is a challenge to therapy. This case is described for its rarity. Informed consent has been obtained from the parents. PMID:26672845

  5. Platelet and not erythrocyte microparticles are procoagulant in transfused thalassaemia major patients.

    PubMed

    Agouti, Imane; Cointe, Sylvie; Robert, Stphane; Judicone, Coralie; Loundou, Anderson; Driss, Fathi; Brisson, Alain; Steschenko, Dominique; Rose, Christian; Pondarr, Corinne; Bernit, Emmanuelle; Badens, Catherine; Dignat-George, Franoise; Lacroix, Romaric; Thuret, Isabelle

    2015-11-01

    The level of circulating platelet-, erythrocyte-, leucocyte- and endothelial-derived microparticles detected by high-sensitivity flow cytometry was investigated in 37 ?-thalassaemia major patients receiving a regular transfusion regimen. The phospholipid procoagulant potential of the circulating microparticles and the microparticle-dependent tissue factor activity were evaluated. A high level of circulating erythrocyte- and platelet-microparticles was found. In contrast, the number of endothelial microparticles was within the normal range. Platelet microparticles were significantly higher in splenectomized than in non-splenectomized patients, independent of platelet count (P<0001). Multivariate analysis indicated that phospholipid-dependent procoagulant activity was influenced by both splenectomy (P=0001) and platelet microparticle level (P<0001). Erythrocyte microparticles were not related to splenectomy, appear to be devoid of proper procoagulant activity and no relationship between their production and haemolysis, dyserythropoiesis or oxidative stress markers could be established. Intra-microparticle labelling with anti-HbF antibodies showed that they originate only partially (median of 28%) from thalassaemic erythropoiesis. In conclusion, when ?-thalassaemia major patients are intensively transfused, the procoagulant activity associated with thalassaemic erythrocyte microparticles is probably diluted by transfusions. In contrast, platelet microparticles, being both more elevated and more procoagulant, especially after splenectomy, may contribute to the residual thrombotic risk reported in splenectomized multi-transfused ?-thalassaemia major patients. PMID:26205481

  6. Extramedullary haematopoiesis in thalassaemia major causing spinal cord compression.

    PubMed

    Chiam, Q L L; Lau, K K

    2007-04-01

    A 33-year-old, homozygous beta-thalassaemic, Jehovah witness man presented with subacute spinal cord compression secondary to extramedullary haematopoiesis within the thoracic spinal canal. In this case, MRI showed characteristic features of extramedullary haematopoiesis, leading to an early diagnosis. PMID:17419864

  7. A novel gap-PCR with high resolution melting analysis for the detection of α-thalassaemia Southeast Asian and Filipino β0-thalassaemia deletion

    PubMed Central

    Leng Kho, Siew; Heng Chua, Kek; George, Elizabeth; Tan, Jin Ai Mary Anne

    2015-01-01

    Homozygosity for the α-thalassaemia Southeast Asian (α-SEA) and Filipino β0-thalassaemia (β-FIL) deletions can cause serious complications leading to foetal death or life-long blood transfusions. A rapid and accurate molecular detection assay is essential in populations where the deletions are common. In this study, gap-polymerase chain reaction (PCR) with high resolution melting (HRM) analysis was developed to detect both the large deletions. Melting curves at 86.9 ± 0.1 °C were generated by normal individuals without the α-SEA deletion, 84.7 ± 0.1 °C by homozygous α-SEA deletion individuals and two melting curves at 84.7 ± 0.1 °C and 86.9 ± 0.1 °C by α-SEA deletion carriers. Normal individuals without the β-FIL deletion produce amplicons with a melting temperature (Tm) at 74.6 ± 0.1 °C, homozygous β-FIL individuals produce amplicons with Tm at 73.6 ± 0.1 °C and heterozygous β-FIL individuals generate two amplicons with Tm at 73.6 ± 0.1 °C and 74.6 ± 0.1 °C. Evaluation using blinded tests on 220 DNA samples showed 100% sensitivity and specificity. The developed assays are sensitive and specific for rapid molecular and prenatal diagnosis for the α-SEA and β-FIL deletions. PMID:26365497

  8. A novel gap-PCR with high resolution melting analysis for the detection of α-thalassaemia Southeast Asian and Filipino β°-thalassaemia deletion.

    PubMed

    Kho, Siew Leng; Chua, Kek Heng; George, Elizabeth; Tan, Jin Ai Mary Anne

    2015-01-01

    Homozygosity for the α-thalassaemia Southeast Asian (α-SEA) and Filipino β°-thalassaemia (β-FIL) deletions can cause serious complications leading to foetal death or life-long blood transfusions. A rapid and accurate molecular detection assay is essential in populations where the deletions are common. In this study, gap-polymerase chain reaction (PCR) with high resolution melting (HRM) analysis was developed to detect both the large deletions. Melting curves at 86.9 ± 0.1 °C were generated by normal individuals without the α-SEA deletion, 84.7 ± 0.1 °C by homozygous α-SEA deletion individuals and two melting curves at 84.7 ± 0.1 °C and 86.9 ± 0.1 °C by α-SEA deletion carriers. Normal individuals without the β-FIL deletion produce amplicons with a melting temperature (Tm) at 74.6 ± 0.1 °C, homozygous β-FIL individuals produce amplicons with Tm at 73.6 ± 0.1 °C and heterozygous β-FIL individuals generate two amplicons with Tm at 73.6 ± 0.1 °C and 74.6 ± 0.1 °C. Evaluation using blinded tests on 220 DNA samples showed 100% sensitivity and specificity. The developed assays are sensitive and specific for rapid molecular and prenatal diagnosis for the α-SEA and β-FIL deletions. PMID:26365497

  9. 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

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

    2007-04-01

    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

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

    PubMed Central

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

    1966-01-01

    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 PMID:5296398

  11. Deferasirox effect on renal haemodynamic parameters in patients with transfusion-dependent ? thalassaemia.

    PubMed

    Piga, Antonio; Fracchia, Silvia; Lai, Maria E; Cappellini, Maria Domenica; Hirschberg, Raimund; Habr, Dany; Wegener, Antje; Bouillaud, Emmanuel; Forni, Gian Luca

    2015-03-01

    Some patients with ? thalassaemia experience non-progressive creatinine increases with deferasirox, mostly within normal limits; the mechanisms involved are not fully elucidated. The effects of deferasirox on renal haemodynamics, including glomerular filtration rate (GFR) and renal plasma flow (RPF), were investigated in a Phase I, open-label study in ? thalassaemia major patients with iron overload. Patients received deferasirox 30mg/kg/d up to Week 8, followed by a 2-week washout period, and extended treatment up to Week 104 with a 4-week washout period. In the short-term study (n=11), mean GFR and RPF declined from baseline to Week 8 (mean [%] change:-92 [-95%] and -1057ml/min [-178%], respectively). A similar pattern was observed during the long-term study (n=5); mean GFR and RPF decreased up to Week 52 (-191 [-177%] and -1556ml/min [-261%]), with similar change at Week 104 (-184 [-172%] and -1159ml/min [-196%]). Measures returned to baseline values after each washout. Serum creatinine and creatinine clearance followed a similar pattern. Effects of deferasirox on renal haemodynamics were mild and reversible for up to 2years of treatment, with no progressive worsening of renal function over time. www.clinicaltrials.gov: NCT00560820. PMID:25402221

  12. Differential gene expression analysis in early and late erythroid progenitor cells in ?-thalassaemia.

    PubMed

    Forster, Luke; McCooke, John; Bellgard, Matthew; Joske, David; Finlayson, Jill; Ghassemifar, Reza

    2015-07-01

    ?- thalassaemia is a disorder of globin gene synthesis resulting in reduced or absent production of the ?-globin chain in red blood cells. In this study, haematopoietic stem cells were isolated from the peripheral blood of six transfusion dependent ?-thalassaemia patients and six healthy controls. Following 7 and 14d in culture, early- and late- erythroblasts were isolated and purified. No morphological difference in maturation was observed following 7d in culture, while a delayed maturation was observed in the patient group after 14d. Following RNA isolation and linear amplification, gene expression analyses were performed using microarray technology. The generated data were analysed by two methods: the BRB-ArrayTools platform and the Bioconductor platform using bead level data. Following 7d culture, there was no difference in gene expression between the control and patient groups. Following 14d culture, 384 differentially expressed genes were identified by either analysis. A subset of 90 genes was selected and the results were confirmed by Quantitative-Real-Time-polymerase chain reaction. Pathways shown to be significantly altered in the patient group include apoptosis, MAPKinase and the nuclear factor-?B pathway. PMID:25892530

  13. Antibodies reacting with Simian Virus 40 mimotopes in serum samples from patients with thalassaemia major

    PubMed Central

    Borgna-Pignatti, Caterina; Mazzoni, Elisa; Felletti, Marcella; Turl, Giuliana; Malaventura, Cristina; Cappellini, Maria Domenica; Cianciulli, Paolo; Forni, Gian Luca; Corallini, Alfredo; Martini, Fernanda; Tognon, Mauro

    2014-01-01

    Background Simian virus 40 (SV40) is a small DNA tumour virus. Footprints of the virus have been detected in different humam lymphoproliferative disorders and in blood specimens of blood from healthy blood donors. This study was carried out to verify whether SV40 antibodies can be detected in serum samples from multiply transfused patients with thalassaemia major. Materials and methods An indirect enzyme-linked immunosorbent assay was employed, using SV40 specific synthetic peptides mimicking the antigens of the viral capsid proteins 1-2-3, to test for the presence of antibodies to SV40 in serum samples taken from patients affected by transfusion-dependent thalassaemia major (n=190) and healthy blood donors (n=251). Results The prevalence of antibodies against SV40 was higher in patients than in controls (24% vs 17%). The prevalence increased and was significantly higher in the older age group of patients affected by thalassemia major than in controls (38% vs 20%, p<0.04). Discussion The higher prevalence of serum antibodies against simian virus 40 in older, multiply transfused patients with thalassamia major than in controls suggests that this virus, or a closely related yet unknown human polyomavirus, could have been transmitted in the past by transfusion with whole blood. At the same time, our data indicate no significant differences in prevalence of SV40 antibodies in patients and controls of younger age thus suggesting that current transfusion methods with leucodepletion and filtered red cells are safe. PMID:24887224

  14. Status of Superoxide Dismutase in Transfusion Dependent Thalassaemia

    PubMed Central

    Rujito, Lantip; Mulatsih, Sri; Sofro, Abdul Salam M.

    2015-01-01

    Background: Thalassemia is a collection of genetic impairments in beta and alpha genes causing various states of anemia. Severe types of the disease need lifelong transfusions, leading to oxidant-antioxidant disturbance due to massive iron deposits. Aims: The aim of this study was to assess the antioxidant enzyme Superoxide Dismutase (SOD) and ferritin levels of thalassemia major patients in a peripheral health facility. Materials and Methods: Two hundred and nine probands were recruited and performed laboratory experiments for SOD and Ferritin levels. Chelation administration and clinical score were taken from interviewing the family and from medical report data. Results: The study showed that SOD intensity was lower (162.41 u/ml) compared to the normal cutoff point (P = 0.001), while the mean of Ferritin levels was ten times over the normal value (4226,67 ng/dl). Observations also reported that chelation medicine was not administrated properly. Conclusions: The data indicates that thalassemic patients have oxidant-antioxidant uproar due to oxidative stress. Monitored chelating administration, selective antioxidant, and a well-balanced diet may prevent oxidative injury. PMID:26110130

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

    PubMed

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

    2013-04-01

    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

  16. A novel p.E311K mutation of thyroid receptor beta gene in resistance to thyroid hormone syndrome, inherited in autosomal recessive trait.

    PubMed

    Slezak, R; Lukienczuk, T; Noczynska, A; Karpinski, P; Lebioda, A; Misiak, B; Sasiadek, M M

    2012-09-01

    Resistance to thyroid hormone (RTH) syndrome is caused by mutations in THRB gene and is inherited mainly as an autosomal dominant trait with dominant negative effect. Most of up-to-now described RTH cases were heterozygous. We studied a 19-year-old woman presenting severe mental impairment, hyperkinetic behavior, learning disability, hearing loss, tachycardia, goiter, strabismus, nystagmus, and normal stature. The laboratory findings revealed elevated TSH, T3, and T4 serum levels. Her parents were healthy with normal serum level of TSH, fT3, and fT4. Sequence based prediction of a substitution was analyzed by SDM, PolPhen, and SNAP software whereas structural visualizations were performed in UCSF Chimera. We found a novel mutation in THRB gene in position 1216 (G to A transition, codon 311) resulting in novel Glu-311-Lys (p.E311K) substitution, homozygous in proband presenting with severe symptoms of RTH and heterozygous in both of her healthy parents, thus suggesting autosomal recessive mode of inheritance. p.E311K substitution was not found in 50 healthy, unrelated individuals. p.E311K was shown to be deleterious by SDM, PolPhen, and SNAP software. Structural visualizations of mutated protein performed by UCSF Chimera software disclosed a loss of hydrogen bonds between E311, R383, and R429 along with abnormal residue-residue contact between K311 and L377. This is a very rare case of a homozygous mutation in a patient with severe symptoms of RTH and lack of symptoms in both heterozygous parents. Although, computational analyses have provided the evidence that p.E311K substitution may affect THRB function, lack of dominant negative effect typical for THRB mutations could not be explained by structure-based modeling. Further in vitro analysis is required to assess the functional consequences of this substitution. PMID:22696245

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

    PubMed

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

    2013-12-01

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

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

    PubMed Central

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

    2013-01-01

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

  19. Type I allergic hypersensitivity reactions due to ethylene oxide sterilised leucocyte filters in patients with thalassaemia: report of four cases.

    PubMed

    Belen, Burcu; Polat, Meltem

    2015-01-01

    Ethylene oxide (EO) is a highly reactive gas used in sterilisation of heat sensitive medical devices, such as infusion sets, cannulae, intubation materials, ventriculoperitoneal shunts, dialysis catheters and stents. Allergic reactions due to EO have been reported in haemodialysis patients, patients undergoing extracorporeal photopheresis and donors of plasmapheresis. Clinical manifestations vary considerably and generally do not allow differentiation between IgE-mediated anaphylaxis and anaphylactoid reactions. We report four patients with thalassaemia who experienced anaphylaxis during transfusion due to ethylene oxide sterilised leucocyte filters. The aim of this report is to highlight the fact that frequently transfused patients can have allergic reactions due to EO particles left in leucocyte filters. PMID:25725028

  20. Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases

    PubMed Central

    Kolnagou, Annita; Kontoghiorghe, Christina N; Kontoghiorghes, George J

    2014-01-01

    Thalassaemia major (TM) and Friedreich’s ataxia (FA) are autosomal recessive inherited diseases related to the proteins haemoglobin and frataxin respectively. In both diseases abnormalities in iron metabolism is the main cause of iron toxicity leading to increased morbidity and mortality. Major efforts are directed towards the prevention of these diseases and also in their treatment using iron chelation therapy. Both TM and FA are endemic in Cyprus, where the frequency per total population of asymptomatic heterozygote carriers and patients is the highest worldwide. Cyprus has been a pioneering nation in preventing and nearly eliminating the birth of TM and FA patients by introducing an organized health structure, including prenatal and antenatal diagnosis. Effective iron chelation therapy, improved diagnostic methods and transfusion techniques as well as supportive therapy from other clinical specializations have improved the survival and quality of life of TM patients. Despite the tiresome clinical management regimes many TM patients are successful in their professional lives, have families with children and some are now living well into their fifties. The introduction of deferiprone led to the elimination of cardiac failure induced by iron overload toxicity, which was the major cause of mortality in TM. Effective combinations of deferiprone with deferoxamine in TM patients caused the fall of body iron to normal physiological ranges. In FA different mechanisms of iron metabolism and toxicity apply to that of TM, which can be targeted with specific iron chelation protocols. Preliminary findings from the introduction of deferiprone in FA patients have increased the hopes for improved and effective therapy in this untreatable condition. New and personalised treatments are proposed in TM and FA. Overall, advances in treatments and in particular of chelation therapy using deferiprone are transforming TM and FA from fatal to chronic conditions. The paradigm of Cyprus in the prevention and treatment of TM can be used for application worldwide. PMID:25541601

  1. HSP70 sequestration by free ?-globin promotes ineffective erythropoiesis in ?-thalassaemia.

    PubMed

    Arlet, Jean-Benot; Ribeil, Jean-Antoine; Guillem, Flavia; Negre, Olivier; Hazoume, Adonis; Marcion, Guillaume; Beuzard, Yves; Dussiot, Michal; Moura, Ivan Cruz; Demarest, Samuel; de Beauchne, Isaure Chauvot; Belaid-Choucair, Zakia; Sevin, Margaux; Maciel, Thiago Trovati; Auclair, Christian; Leboulch, Philippe; Chretien, Stany; Tchertanov, Luba; Baudin-Creuza, Vronique; Seigneuric, Renaud; Fontenay, Michaela; Garrido, Carmen; Hermine, Olivier; Courtois, Genevive

    2014-10-01

    ?-Thalassaemia major (?-TM) is an inherited haemoglobinopathy caused by a quantitative defect in the synthesis of ?-globin chains of haemoglobin, leading to the accumulation of free ?-globin chains that form toxic aggregates. Despite extensive knowledge of the molecular defects causing ?-TM, little is known of the mechanisms responsible for the ineffective erythropoiesis observed in the condition, which is characterized by accelerated erythroid differentiation, maturation arrest and apoptosis at the polychromatophilic stage. We have previously demonstrated that normal human erythroid maturation requires a transient activation of caspase-3 at the later stages of maturation. Although erythroid transcription factor GATA-1, the master transcriptional factor of erythropoiesis, is a caspase-3 target, it is not cleaved during erythroid differentiation. We have shown that, in human erythroblasts, the chaperone heat shock protein70 (HSP70) is constitutively expressed and, at later stages of maturation, translocates into the nucleus and protects GATA-1 from caspase-3 cleavage. The primary role of this ubiquitous chaperone is to participate in the refolding of proteins denatured by cytoplasmic stress, thus preventing their aggregation. Here we show in vitro that during the maturation of human ?-TM erythroblasts, HSP70 interacts directly with free ?-globin chains. As a consequence, HSP70 is sequestrated in the cytoplasm and GATA-1 is no longer protected, resulting in end-stage maturation arrest and apoptosis. Transduction of a nuclear-targeted HSP70 mutant or a caspase-3-uncleavable GATA-1 mutant restores terminal maturation of ?-TM erythroblasts, which may provide a rationale for new targeted therapies of ?-TM. PMID:25156257

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

    PubMed Central

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

    2013-01-01

    Background: β-thalassaemia is one of the most common single-gene disorders worldwide. Each ethnic population has its own common mutations, accounting for the majority of cases, with a small number of mutations for the rarer alleles. Due to the heterogeneity of β-thalassaemia and the multi-ethnicity of Malaysians, molecular diagnostics may be expensive and time consuming. Methods: A simple polymerase chain reaction (PCR) approach involving a multiplex amplification refractory mutation system (MARMS) and one amplification refractory mutation system (ARMS), consisting of 20 β-globin gene mutations, were designed and employed to investigate β-thalassaemia patients and carriers. Results: Out of 169 carriers tested with the MARMS, Cd 41/42 (–TTCT), Cd 26 (A–G) HbE, IVS 1–1 (G–T), and IVS 1–5 (G–C) were the most common mutations, accounting for 78.1%. Among the Malays, Cd 26 (A–G) HbE, Cd 41/42 (–TTCT), IVS 1–1 (G–T), and IVS 1–5 (G–C) were the most common mutations, accounting for 81.4%, whereas Cd 41/42 (–TTCT) and IVS 2–654 (C–T) were most common among the Chinese (79.1%). Conclusion: We propose the use of this cheap, easy to interpret, and simple system for the molecular diagnostics of β-thalassaemia among Malaysians at the Institute for Medical Research (IMR). PMID:23613656

  3. Graves' disease mimicking beta-thalassemia trait.

    PubMed Central

    Akasheh, M. S.

    1994-01-01

    A case of Graves' disease associated with splenomegaly, lymphadenopathy, microcytic hypochromic anaemia, and a raised haemoglobin A2 is presented. The haematological indices returned to normal after conventional treatment with anti-thyroid medication. PMID:8183779

  4. Graves' disease mimicking beta-thalassemia trait.

    PubMed

    Akasheh, M S

    1994-04-01

    A case of Graves' disease associated with splenomegaly, lymphadenopathy, microcytic hypochromic anaemia, and a raised haemoglobin A2 is presented. The haematological indices returned to normal after conventional treatment with anti-thyroid medication. PMID:8183779

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

    PubMed

    Skordis, Nicos; Toumba, Meropi

    2011-03-01

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

  6. 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

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Postranslational glycosylation of midgut epithelial peptide and lipid receptors may be required prior to activated Bacillus thuringiensis (Bt) Cry toxin binding. A 931 nt mRNA encoding a putative 297 residue Beta-1,3-galactosyltransferase (Beta3GalT5) was isolated from larval O. nubilalis midgut ti...

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

    PubMed

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

    2012-01-01

    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

  8. The Least-Squares Estimation of Latent Trait Variables.

    ERIC Educational Resources Information Center

    Tatsuoka, Kikumi

    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

  9. The Least-Squares Estimation of Latent Trait Variables.

    ERIC Educational Resources Information Center

    Tatsuoka, Kikumi

    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…

  10. Beta experiment

    NASA Technical Reports Server (NTRS)

    1982-01-01

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

  11. Optimising iron chelation therapy with deferasirox for non-transfusion-dependent thalassaemia patients: 1-year results from the THETIS study.

    PubMed

    Taher, Ali T; Cappellini, M Domenica; Aydinok, Yesim; Porter, John B; Karakas, Zeynep; Viprakasit, Vip; Siritanaratkul, Noppadol; Kattamis, Antonis; Wang, Candace; Zhu, Zewen; Joaquin, Victor; Uwamahoro, Marie Jos; Lai, Yong-Rong

    2016-03-01

    Efficacy and safety of iron chelation therapy with deferasirox in iron-overloaded non-transfusion-dependent thalassaemia (NTDT) patients were established in the THALASSA study. THETIS, an open-label, single-arm, multicentre, Phase IV study, added to this evidence by investigating earlier dose escalation by baseline liver iron concentration (LIC) (week 4: escalation according to baseline LIC; week 24: adjustment according to LIC response, maximum 30mg/kg/day). The primary efficacy endpoint was absolute change in LIC from baseline to week 52. 134 iron-overloaded non-transfusion-dependent anaemia patients were enrolled and received deferasirox starting at 10mg/kg/day. Mean actual doseSD over 1year was 14.705.48mg/kg/day. At week 52, mean LICSD decreased significantly from 15.1310.72mg Fe/g dw at baseline to 8.466.25mg Fe/g dw (absolute change from baseline, -6.687.02mg Fe/g dw [95% CI: -7.91, -5.45]; P<0.0001). Most common drug-related adverse events were gastrointestinal: abdominal discomfort, diarrhoea and nausea (n=6 each). There was one death (pneumonia, not considered drug related). With significant and clinically relevant reductions in iron burden alongside a safety profile similar to that in THALASSA, these data support earlier escalation with higher deferasirox doses in iron-overloaded non-transfusion-dependent anaemia patients. PMID:26852651

  12. Identification and key management of non-transfusion-dependent thalassaemia patients: not a rare but potentially under-recognised condition.

    PubMed

    Viprakasit, Vip; Tyan, Paul; Rodmai, Sarayuth; Taher, Ali T

    2014-01-01

    Patients with non-transfusion-dependent thalassaemia (NTDT) have a genetic defect or combination of defects that affect haemoglobin synthesis, but which is not severe enough to require regular blood transfusions. The carrier frequency of NTDT is high (up to 80% in some parts of the world) but the prevalence of symptomatic patients varies with geography and is estimated to be from 1 in 100,000 to 1 in 100. NTDT has a variable presentation that may include mild to severe anaemia, enlarged spleen and/or liver, skeletal deformities, growth retardation, elevated serum ferritin and iron overload. The contributing factors to disease progression are ineffective erythropoiesis and increased haemolysis, which lead to chronic anaemia. The body's attempts to correct the anaemia result in constantly activated erythropoiesis, leading to marrow expansion and extramedullary haematopoiesis. Diagnosis of NTDT is largely clinical but can be confirmed by genetic sequencing. NTDT must be differentiated from other anaemias including sideroblastic anaemia, paroxysmal nocturnal haemoglobinuria, congenital dyserythropoietic anaemia, myelodysplastic syndromes and iron-deficiency anaemia. Management of NTDT is based on managing symptoms, and includes blood transfusions, hydroxyurea treatment, iron chelation and sometimes splenectomy. Prognosis for well managed patients is good, with most patients living a normal life. Since NTDT is mainly prevalent in sub-tropical regions, patients who present in other parts of the world, in particular the Northern hemisphere, might not been correctly recognised and it can be considered a 'rare' condition. It is particularly important to identify and diagnose patients early, thereby preventing complications. PMID:25265971

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

    PubMed Central

    2009-01-01

    Background Cognitive-Behavioural Family Therapy (CBFT) can be an effective psychological approach for children with ?-thalassaemia major, increasing compliance to treatment, lessening the emotional burden of disease, and improving the quality of life of caregivers. Design and methods Twenty-eight ?-thalassaemic major children that followed CBFT for one year were compared with twenty-eight age-matched healthy children, focusing particularly on behavioural, mood, and temperamental characteristics as well as compliance with chelation, assessed using the Child Behaviour Checklist (CBCL), Children's Depression Inventory (CDI), Multidimensional Anxiety Scale for Children (MASC), and Emotionality, Activity, Sociability and Shyness Scale (EAS). We also monitored the quality of life of caregiving mothers using the World Health Organization Quality Of Life (WHOQOL-BREF) questionnaire. Data were analysed with non-parametric standard descriptive statistics. Results 90% of ?-Thalassaemic children showed good compliance with chelation therapy; however they had significantly increased somatic complains, physical symptoms and separation panic. Moreover, temperamental assessment revealed high emotionality and poor sociability in treated thalassaemic children and in their mothers. Physical and psychological domains concerning individual's overall perception of quality of life resulted impaired in mothers of ?-thalassaemic children. Conclusion CBFT can be a valid tool to increase the compliance with chelation therapy in ?-thalassaemic children; however, treated children continue to show an important emotional burden; moreover, CBFT therapy seems not to have any positive impact on the quality of life of caregiving mothers, who may therefore need additional psychological support. PMID:19236719

  14. Pharmacoeconomic considerations in treating iron overload in patients with ?-thalassaemia, sickle cell disease and myelodysplastic syndromes in the US: a literature review.

    PubMed

    Zhang, Bin; Donga, Prina Z; Corral, Mitra; Sasane, Medha; Miller, Jeffrey D; Pashos, Chris L

    2011-06-01

    Patients with ?-thalassaemia, sickle cell disease (SCD) and myelodysplastic syndromes (MDS) require chronic blood transfusions, which can lead to iron overload and substantial morbidity and mortality. To reduce the excess iron and its deleterious effects, available iron chelation therapy (ICT) in the US includes oral deferasirox or infusional deferoxamine (DFO). The aim of this study was to review and synthesize the available pharmacoeconomic evidence on ICT in patients with ?-thalassaemia, SCD and MDS in the US. We systematically identified and reviewed pharmacoeconomic studies of ICT in patients with ?-thalassaemia, SCD and MDS that either were published in MEDLINE-indexed, English-language journals from 1999 to 2009, or appeared in medical society websites and scientific meeting abstracts. We assessed available cost-of-illness, cost-of-treatment, cost-consequence, cost-effectiveness, utility and patient-satisfaction studies. The majority of the 20 identified studies assessed cost of treatment, mainly focusing on acquisition and administration costs of ICTs. Gaps in the published literature include current data on direct medical costs for patients with MDS, direct medical costs associated with complications of iron overload, direct non-medical costs, indirect costs and patient utilities. Different underlying model assumptions, methodologies and comparators were found in the cost-effectiveness studies, which yielded a broad range of incremental cost-effectiveness ratios for different ICTs. Comprehensive cost-of-illness studies are needed to address data gaps in the published literature regarding the economic burden of iron overload. Comparative-effectiveness studies that evaluate clinical, economic and patient-reported outcomes would help the medical community to better understand the value of different ICTs. PMID:21452907

  15. Uncertainty quantified trait predictions

    NASA Astrophysics Data System (ADS)

    Fazayeli, Farideh; Kattge, Jens; Banerjee, Arindam; Schrodt, Franziska; Reich, Peter

    2015-04-01

    Functional traits of organisms are key to understanding and predicting biodiversity and ecological change, which motivates continuous collection of traits and their integration into global databases. Such composite trait matrices are inherently sparse, severely limiting their usefulness for further analyses. On the other hand, traits are characterized by the phylogenetic trait signal, trait-trait correlations and environmental constraints, all of which provide information that could be used to statistically fill gaps. We propose the application of probabilistic models which, for the first time, utilize all three characteristics to fill gaps in trait databases and predict trait values at larger spatial scales. For this purpose we introduce BHPMF, a hierarchical Bayesian extension of Probabilistic Matrix Factorization (PMF). PMF is a machine learning technique which exploits the correlation structure of sparse matrices to impute missing entries. BHPMF additionally utilizes the taxonomic hierarchy for trait prediction. Implemented in the context of a Gibbs Sampler MCMC approach BHPMF provides uncertainty estimates for each trait prediction. We present comprehensive experimental results on the problem of plant trait prediction using the largest database of plant traits, where BHPMF shows strong empirical performance in uncertainty quantified trait prediction, outperforming the state-of-the-art based on point estimates. Further, we show that BHPMF is more accurate when it is confident, whereas the error is high when the uncertainty is high.

  16. Anxious apprehension increases coupling of delta and beta oscillations.

    PubMed

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

    2006-08-01

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

  17. The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).

    PubMed

    Haas, Peter S; Roy, Noemi B A; Gibbons, Richard J; Deville, Marie-Alice; Fisher, Chris; Schwabe, Michael; Biss, Emmanuel; van Dorsselaer, Alain; Higgs, Douglas R; Lbbert, Michael

    2009-02-01

    Alpha thalassaemia myelodysplastic syndrome (ATMDS) is an unusual complication of chronic myeloid malignancy that is associated with a striking red cell phenotype. It represents an acquired form of alpha-thalassaemia that most commonly arises in the context of myelodysplasia. It has recently been shown that this condition occurs in association with somatic mutations of a known X-encoded trans-acting regulator of alpha globin gene (HBA) expression, ATRX. There is an unexplained, strong male preponderance of individuals with the ATMDS phenotype with a >5:1 male-female ratio and furthermore, all the somatic ATRX mutations described to date have been in males. Here we report the identification, in a single centre, of two females with ATMDS and mutations in the ATRX gene, proving that ATMDS associated with such mutations may occur, albeit rarely, in females. It seemed possible that females might be less likely to develop ATMDS if the inactivated copy of the ATRX gene (ATRX) became progressively re-activated throughout life. This study ruled out this hypothesis by investigating the pattern of ATRX inactivation in a cross-sectional analysis of normal females at ages ranging from newborn to 90 years. PMID:19055664

  18. FishTraits Database

    USGS Publications Warehouse

    Angermeier, Paul L.; Frimpong, Emmanuel A.

    2009-01-01

    The need for integrated and widely accessible sources of species traits data to facilitate studies of ecology, conservation, and management has motivated development of traits databases for various taxa. In spite of the increasing number of traits-based analyses of freshwater fishes in the United States, no consolidated database of traits of this group exists publicly, and much useful information on these species is documented only in obscure sources. The largely inaccessible and unconsolidated traits information makes large-scale analysis involving many fishes and/or traits particularly challenging. FishTraits is a database of >100 traits for 809 (731 native and 78 exotic) fish species found in freshwaters of the conterminous United States, including 37 native families and 145 native genera. The database contains information on four major categories of traits: (1) trophic ecology, (2) body size and reproductive ecology (life history), (3) habitat associations, and (4) salinity and temperature tolerances. Information on geographic distribution and conservation status is also included. Together, we refer to the traits, distribution, and conservation status information as attributes. Descriptions of attributes are available here. Many sources were consulted to compile attributes, including state and regional species accounts and other databases.

  19. Fatal vancomycin- and linezolid-resistant Enterococcus faecium sepsis in a child undergoing allogeneic haematopoietic stem cell transplantation for beta-thalassaemia major.

    PubMed

    Fossati, Marco; Cappelli, Barbara; Biral, Erika; Chiesa, Robert; Biffi, Alessandra; Ossi, Cristina; Moro, Matteo; Cirillo, Daniela Maria; Clementi, Massimo; Soliman, Clara; Ciceri, Fabio; Roncarolo, Maria Grazia; Fumagalli, Luca; Marktel, Sarah

    2010-07-01

    Recently vancomycin-resistant and sporadically linezolid-resistant Enterococcus species have been described in adults. We report what we believe to be the first case of a child with prolonged bone marrow aplasia following haematopoietic stem cell transplantation developing a fatal sepsis caused by Enterococcus faecium resistant to glycopeptides and linezolid. PMID:20299507

  20. Defining serum ferritin thresholds to predict clinically relevant liver iron concentrations for guiding deferasirox therapy when MRI is unavailable in patients with non-transfusion-dependent thalassaemia.

    PubMed

    Taher, Ali T; Porter, John B; Viprakasit, Vip; Kattamis, Antonis; Chuncharunee, Suporn; Sutcharitchan, Pranee; Siritanaratkul, Noppadol; Origa, Raffaella; Karakas, Zeynep; Habr, Dany; Zhu, Zewen; Cappellini, Maria Domenica

    2015-01-01

    Liver iron concentration (LIC) assessment by magnetic resonance imaging (MRI) remains the gold standard to diagnose iron overload and guide iron chelation therapy in patients with non-transfusion-dependent thalassaemia (NTDT). However, limited access to MRI technology and expertise worldwide makes it practical to also use serum ferritin assessments. The THALASSA (assessment of Exjade() in non-transfusion-dependent THALASSemiA patients) study assessed the efficacy and safety of deferasirox in iron-overloaded NTDT patients and provided a large data set to allow exploration of the relationship between LIC and serum ferritin. Using data from screened patients and those treated with deferasirox for up to 2years, we identified clinically relevant serum ferritin thresholds (for when MRI is unavailable) for the initiation of chelation therapy (>800?g/l), as well as thresholds to guide chelator dose interruption (<300?g/l) and dose escalation (>2000?g/l). (clinicaltrials.gov identifier: NCT00873041). PMID:25212456

  1. Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients

    PubMed Central

    Porter, John B.; Walter, Patrick B.; Neumayr, Lynne D.; Evans, Patricia; Bansal, Sukhvinder; Garbowski, Maciej; Weyhmiller, Marcela G.; Harmatz, Paul R.; Wood, John C.; Miller, Jeffery L.; Byrnes, Colleen; Weiss, Guenter; Seifert, Markus; Grosse, Regine; Grabowski, Dagmar; Schmidt, Angelica; Fischer, Roland; Nielsen, Peter; Niemeyer, Charlotte; Vichinsky, Elliott

    2015-01-01

    Summary In transfusional iron overload, extra-hepatic iron distribution differs, depending on the underlying condition. Relative mechanisms of plasma non-transferrin bound iron (NTBI) generation may account for these differences. Markers of iron metabolism (plasma NTBI, labile iron, hepcidin, transferrin, monocyte SLC40A1 [ferroportin]), erythropoiesis (growth differentiation factor 15, soluble transferrin receptor) and tissue hypoxia (erythropoietin) were compared in patients with Thalassaemia Major (TM), Sickle Cell Disease and Diamond-Blackfan Anaemia (DBA), with matched transfusion histories. The most striking differences between these conditions were relationships of NTBI to erythropoietic markers, leading us to propose three mechanisms of NTBI generation: iron overload (all), ineffective erythropoiesis (predominantly TM) and low transferrin-iron utilization (DBA). PMID:25209728

  2. Generalized Latent Trait Models.

    ERIC Educational Resources Information Center

    Moustaki, Irini; Knott, Martin

    2000-01-01

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

  3. Functional trait space and the latitudinal diversity gradient.

    PubMed

    Lamanna, Christine; Blonder, Benjamin; Violle, Cyrille; Kraft, Nathan J B; Sandel, Brody; mov, Irena; Donoghue, John C; Svenning, Jens-Christian; McGill, Brian J; Boyle, Brad; Buzzard, Vanessa; Dolins, Steven; Jrgensen, Peter M; Marcuse-Kubitza, Aaron; Morueta-Holme, Naia; Peet, Robert K; Piel, William H; Regetz, James; Schildhauer, Mark; Spencer, Nick; Thiers, Barbara; Wiser, Susan K; Enquist, Brian J

    2014-09-23

    The processes causing the latitudinal gradient in species richness remain elusive. Ecological theories for the origin of biodiversity gradients, such as competitive exclusion, neutral dynamics, and environmental filtering, make predictions for how functional diversity should vary at the alpha (within local assemblages), beta (among assemblages), and gamma (regional pool) scales. We test these predictions by quantifying hypervolumes constructed from functional traits representing major axes of plant strategy variation (specific leaf area, plant height, and seed mass) in tree assemblages spanning the temperate and tropical New World. Alpha-scale trait volume decreases with absolute latitude and is often lower than sampling expectation, consistent with environmental filtering theory. Beta-scale overlap decays with geographic distance fastest in the temperate zone, again consistent with environmental filtering theory. In contrast, gamma-scale trait space shows a hump-shaped relationship with absolute latitude, consistent with no theory. Furthermore, the overall temperate trait hypervolume was larger than the overall tropical hypervolume, indicating that the temperate zone permits a wider range of trait combinations or that niche packing is stronger in the tropical zone. Although there are limitations in the data, our analyses suggest that multiple processes have shaped trait diversity in trees, reflecting no consistent support for any one theory. PMID:25225365

  4. Functional trait space and the latitudinal diversity gradient

    PubMed Central

    Lamanna, Christine; Blonder, Benjamin; Violle, Cyrille; Kraft, Nathan J. B.; Sandel, Brody; mov, Irena; Donoghue, John C.; Svenning, Jens-Christian; McGill, Brian J.; Boyle, Brad; Buzzard, Vanessa; Dolins, Steven; Jrgensen, Peter M.; Marcuse-Kubitza, Aaron; Morueta-Holme, Naia; Peet, Robert K.; Piel, William H.; Regetz, James; Schildhauer, Mark; Spencer, Nick; Thiers, Barbara; Wiser, Susan K.; Enquist, Brian J.

    2014-01-01

    The processes causing the latitudinal gradient in species richness remain elusive. Ecological theories for the origin of biodiversity gradients, such as competitive exclusion, neutral dynamics, and environmental filtering, make predictions for how functional diversity should vary at the alpha (within local assemblages), beta (among assemblages), and gamma (regional pool) scales. We test these predictions by quantifying hypervolumes constructed from functional traits representing major axes of plant strategy variation (specific leaf area, plant height, and seed mass) in tree assemblages spanning the temperate and tropical New World. Alpha-scale trait volume decreases with absolute latitude and is often lower than sampling expectation, consistent with environmental filtering theory. Beta-scale overlap decays with geographic distance fastest in the temperate zone, again consistent with environmental filtering theory. In contrast, gamma-scale trait space shows a hump-shaped relationship with absolute latitude, consistent with no theory. Furthermore, the overall temperate trait hypervolume was larger than the overall tropical hypervolume, indicating that the temperate zone permits a wider range of trait combinations or that niche packing is stronger in the tropical zone. Although there are limitations in the data, our analyses suggest that multiple processes have shaped trait diversity in trees, reflecting no consistent support for any one theory. PMID:25225365

  5. Predicting microbial traits with phylogenies.

    PubMed

    Goberna, Marta; Verdú, Miguel

    2016-04-01

    Phylogeny reflects genetic and phenotypic traits in Bacteria and Archaea. The phylogenetic conservatism of microbial traits has prompted the application of phylogeny-based algorithms to predict unknown trait values of extant taxa based on the traits of their evolutionary relatives to estimate, for instance, rRNA gene copy numbers, gene contents or tolerance to abiotic conditions. Unlike the 'macrobial' world, microbial ecologists face scenarios potentially compromising the accuracy of trait reconstruction methods, as, for example, extremely large phylogenies and limited information on the traits of interest. We review 990 bacterial and archaeal traits from the literature and support that phylogenetic trait conservatism is widespread through the tree of life, while revealing that it is generally weak for ecologically relevant phenotypic traits and high for genetically complex traits. We then perform a simulation exercise to assess the accuracy of phylogeny-based trait predictions in common scenarios faced by microbial ecologists. Our simulations show that ca. 60% of the variation in phylogeny-based trait predictions depends on the magnitude of the trait conservatism, the number of species in the tree, the proportion of species with unknown trait values and the mean distance in the tree to the nearest neighbour with a known trait value. Results are similar for both binary and continuous traits. We discuss these results under the light of the reviewed traits and provide recommendations for the use of phylogeny-based trait predictions for microbial ecologists. PMID:26371406

  6. Beta Thalassemia (For Parents)

    MedlinePLUS

    ... decreases the ability of red blood cells to transport oxygen around the body. continue Types of Beta ... untreated. Complications of beta thalassemia major include: Excess iron. Kids who have beta thalassemia can end up ...

  7. Developing Leadership Traits.

    ERIC Educational Resources Information Center

    Hall, Susan King

    1980-01-01

    Defines six leadership traits that are necessary to and fostered by editing a college newspaper: delegating authority, developing subordinates, motivating others, being approachable, commanding respect, and bringing out optimum performances in others. (TJ)

  8. Osteoporosis and beta-thalassemia major: role of the IGF-I/IGFBP-III axis.

    PubMed

    Lasco, A; Morabito, N; Gaudio, A; Crisafulli, A; Meo, A; Denuzzo, G; Frisina, N

    2002-04-01

    Patients with beta-thalassaemia major are susceptible to osteopenia due to several factors which interfere with bone remodeling. It is known that bone metabolism and skeletal consolidation result from a complex sequence of hormonal changes, where the concerted actions of GH, IGF-I and sex hormones and their receptors, are responsible for the timing and attainment of skeletal consolidation. IGF-I and the corresponding binding protein (IGFBP-III), markers of bone metabolism and lumbar and femoral neck BMD were measured in 28 adult patients, undergoing hormonal replacement and chelation therapy and a hypertransfusion program, with beta-thalassaemia major (12 males with mean age 22.5+/-3.1 and 16 females with mean age 27.5+/-8.2), and in 28 healthy volunteers matched for age, anthropometric features and sex to the patients. BMD values, both at lumbar and femoral neck level were significantly lower (p<0.001 and p<0.05) by 18.7 and 4.2% respectively, in patients than in the controls. Markers of bone resorption [pyridinoline (Pyr) 78.1+/-15.7 vs 47.5+/-11.2 pmol/pmol urinary creatinine, p<0.001 and deoxypyridinoline (D-Pyr) 21.9+/-3.5 vs 14.5+/-5.4 pmol/ micromol urinary creatinine, p<0.001] were higher in patients than in controls, whereas the marker of bone formation was slightly lower [osteocalcin (BGP) 3.8+/-0.6 vs 4.6+/-1.7 pmol/ml, p<0.05]. Plasma levels of IGF-I (21.07+/-5.12 vs 35.25+/-8.33 nmol/ml, p<0.001) and IGF binding protein III (IGFBP-III) (1.9+/-0.4 vs 2.5+/-0.1 mg/ml, p<0.001) were lower in patients than in controls and positively correlated with BMD L2-L4 (r=0.57, p<0.05 and r=0.47, p<0.05 respectively), BMD neck (r=0.40, p<0.05 and r=0.34, p<0.05 respectively) and BGP (r=0.52, p<0.05 and r=0.34, p<0.05 respectively). Our beta-thalassaemic patients, in spite of normalizing hemoglobin levels, adequate hormone replacement and chelation therapies, showed osteopenia and an unbalanced bone turnover with an increased resorptive phase and a decreased formation phase probably correlated to low levels of IGF-I and IGFBP-III observed in our study. PMID:12030605

  9. Genomewide association study for beta-glucan content in North American elite oat

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genome wide-association studies (GWAS) can be a useful approach to detect quantitative trait loci (QTL) controlling complex traits in crop plants. Oat (Avena sativa L.) beta-glucan is a soluble dietary fiber and has been shown to have positive health benefits. We report a GWAS involving 446 elite oa...

  10. Cereal beta-glucans

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cereal beta-glucans occur predominantly in oats and barley, but can be found in other cereals. Beta-glucan structure is a mixture of single beta-1,3-linkages and consecutive beta-1,4-linkages, and cellotriosyl and cellotetraosyl units typically make up 90-95% of entire molecule. Lichenase can hydr...

  11. Prenatal diagnosis of sickle cell anemia and beta-thalassemia in southern Turkey.

    PubMed

    Crk, M Akif; Zeren, Filiz; Gen, Ahmet; Ozavci-Aygn, Sezen; Kilin, Yurdanur; Aksoy, Kiymet

    2008-01-01

    Hemoglobinopathies are the most common genetic diseases in Turkey. The incidence of sickle cell trait is 10.0% and beta-thalassemia (beta-thal) trait is 3.7% in the Cukurova region of southern Turkey. Sickle cell anemia is prevalent in the Cukurova region, but beta-thal is seen all over the country. A prenatal diagnosis center was established in 1992 at Adana, Turkey, for the prevention of sickle cell anemia and beta-thal. Fifteen hundred and seventy-five fetuses were examined at the Cukurova University Hospital, Adana, Turkey. Three hundred and eighty-six fetuses were diagnosed as homozygous or compound heterozygous for sickle cell anemia and beta-thal. A total of 15 different beta-thal mutations were characterized in the parents. The incidence of the IVS-I-110 (G > A) mutation accounted for about 50.0% of the parents with beta-thal trait. Twenty-four different genotypes were observed in this study. A total of 286 fetuses were diagnosed with homozygous sickle cell disease, 57 fetuses were beta-thal homozygotes, 25 fetuses were compound heterozygotes with Hb S [beta6(A3)Glu-->Val, GAG > GTG], and 18 of the fetuses were double heterozygotes for beta-thal mutations. PMID:19065329

  12. Origins of Metastatic Traits

    PubMed Central

    Vanharanta, Sakari; Massagu, Joan

    2014-01-01

    How cancer cells acquire the competence to colonize distant organs remains a central question in cancer biology. Tumors can release large numbers of cancer cells into the circulation, but only a small proportion of these cells survive on infiltrating distant organs and even fewer form clinically meaningful metastases. During the past decade, many predictive gene signatures and specific mediators of metastasis have been identified, yet how cancer cells acquire these traits has remained obscure. Recent experimental work and high-resolution sequencing of human tissues have started to reveal the molecular and tumor evolutionary principles that underlie the emergence of metastatic traits. PMID:24135279

  13. Personality Traits and Leptin

    PubMed Central

    Sutin, Angelina R.; Zonderman, Alan B.; Uda, Manuela; Deiana, Barbara; Taub, Dennis D.; Longo, Dan L.; Ferrucci, Luigi; Schlessinger, David; Cucca, Francesco; Terracciano, Antonio

    2015-01-01

    Objective Personality traits related to high Neuroticism and low Conscientiousness are consistently associated with obesity. Hormones implicated in appetite and metabolism, such as leptin, may also be related to personality and may contribute to the association between these traits and obesity. The present research examined the association between leptin and Five Factor Model personality traits. Methods A total of 5,214 participants (58% female; Mean age = 44.42 years, SD = 15.93, range 18 to 94) from the SardiNIA project completed the Revised NEO Personality Inventory, a comprehensive measure of personality traits, and their blood samples were assayed for leptin. Results As expected, lower Conscientiousness was associated with higher circulating levels of leptin (r=?.05, p<.001), even after controlling for body mass index, waist circumference, or inflammatory markers (r=?.05, p<.001). Neuroticism, in contrast, was unrelated to leptin (r=.01, p=.31). Conclusions Individuals who are impulsive and lack discipline (low Conscientiousness) may develop leptin resistance, which could be one factor that contributes to obesity, whereas the relation between a proneness to anxiety and depression (high Neuroticism) and obesity may be mediated through other physiological and/or behavioral pathways. PMID:23697464

  14. Are autistic traits autistic?

    PubMed

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

    2009-02-01

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

  15. beta-Hexachlorocyclohexane (beta-HCH)

    Integrated Risk Information System (IRIS)

    beta - Hexachlorocyclohexane ( beta - HCH ) ; CASRN 319 - 85 - 7 Human health assessment information on a chemical substance is included in the IRIS database only after a comprehensive review of toxicity data , as outlined in the IRIS assessment development process . Sections I ( Health Hazard Asses

  16. Beta-carotene

    MedlinePLUS

    ... cancer in men. Special precautions & warnings: Pregnancy and breast-feeding: Beta-carotene is LIKELY SAFE when taken by ... not recommended for general use during pregnancy and breast-feeding. Smoking: In people who smoke, beta-carotene supplements ...

  17. The Splenic Syndrome in Individuals with Sickle Cell Trait

    PubMed Central

    Hassell, Kathryn; Irwin, David; Witkowski, Ewa H.; Nuss, Rachelle

    2014-01-01

    Abstract Goodman, Jessica, Kathryn Hassell, David Irwin, Ewa H. Witkowski, and Rachelle Nuss. The splenic syndrome in individuals with sickle cell trait. High Alt Med Biol 15:468471, 2014.The medical records of 25 individuals with sickle cell trait and altitude-associated splenic infarct, reported to two Colorado physicians, were reviewed. Electrospray mass spectroscopy was performed on blood samples from a cohort of 10 of the individuals to rapidly confirm beta hemoglobin phenotype. Only males were identified with a 1.4:1 ratio of non-African Americans to African Americans, and 44% of African Americans and 85% of non-African Americans were unaware they had sickle cell trait. Left upper quadrant pain and an elevated bilirubin were nearly uniformly present. Either abdominal CT or ultrasound was confirmatory. Conservative treatment at a lower altitude generally resulted in a favorable outcome. PMID:25361178

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

    PubMed

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

    2011-12-01

    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

  19. TGF-beta signaling.

    PubMed Central

    Savage-Dunn, Cathy

    2005-01-01

    TGF-beta superfamily ligands play fundamental roles in the development and physiology of diverse animal species. Genetic and genomic analyses in the model organism Caenorhabditis elegans have contributed to the understanding of TGF-beta-related signal transduction mechanisms. In this chapter, I describe the currently characterized TGF-beta-related signals and signal transduction cassettes in C. elegans. Homology searches of the genome identify five TGF-beta-related genes, for which functions have been identified for three. Two of the TGF-beta-related genes, daf-7 and dbl-1, function through conventional signaling pathways. These signaling pathways are comprised of ser/thr kinase receptors, Smads, and transcription co-factors. A third TGF-beta-related gene, unc-129, functions in axonal guidance using novel signaling mechanisms. Thus, TGF-beta-related signaling in C. elegans proceeds via both conserved and novel paradigms that can inform studies in other animal systems. PMID:18050404

  20. Interval Mapping of Quantitative Trait Loci Employing Correlated Trait Complexes

    PubMed Central

    Korol, A. B.; Ronin, Y. I.; Kirzhner, V. M.

    1995-01-01

    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 heritability 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, H(xy)(2) (A/ a) >/= H(x)(2) (A/ a). The last inequality holds even if y does not depend on A/ a at all, but 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(2) (both in single trait and two-trait analysis) with the expected LOD value, ELOD = -1/2N log(1 - H(2)). Thus, situations could exist that from the inequality H(xy)(2) (A/ a) >/= H(x)(2) (A/ a) a higher resolution is provided by the two-trait analysis as compared to the single-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). PMID:7672584

  1. APOE and A-betaPP Gene Variation in Cortical and Cerebrovascular Amyloid-beta Pathology and Alzheimer’s Disease: A Population-Based Analysis

    PubMed Central

    Peuralinna, Terhi; Tanskanen, Maarit; Mäkelä, Mira; Polvikoski, Tuomo; Paetau, Anders; Kalimo, Hannu; Sulkava, Raimo; Hardy, John; Lai, Shiao-Lin; Arepalli, Sampath; Hernandez, Dena; Traynor, Bryan J.; Singleton, Andrew; Tienari, Pentti J.; Myllykangas, Liisa

    2012-01-01

    Cortical and cerebrovascular amyloid-beta (A-beta) deposition is a hallmark of Alzheimer’s disease (AD), but also occurs in elderly people not affected by dementia. The apolipoprotein E (APOE) epsilon4 is a major genetic modulator of A-beta deposition and AD risk. Variants of the amyloid-beta protein precursor (A-betaPP) gene have been reported to contribute to AD and cerebral amyloid angiopathy (CAA). We analyzed the role of APOE and A-beta PP variants in cortical and cerebrovascular A-beta deposition, and neuropathologically verified AD (based on modified NIA-RI criteria) in a population-based autopsy sample of Finns aged ≥85 years (Vantaa85 + Study; n = 282). Our updated analysis of APOE showed strong associations of the epsilon4 allele with cortical (p = 4.91×10−17) and cerebrovascular (p = 9.87×10−11) A-beta deposition as well as with NIA-RI AD (p = 1.62×10−8). We also analyzed 60 single nucleotide polymorphisms (SNPs) at the A-betaPP locus. In single SNP or haplotype analyses there were no statistically significant A-betaPP locus associations with cortical or cerebrovascular A-beta deposition or with NIA-RI AD. We sequenced the promoter of the A-betaPP gene in 40 subjects with very high A-beta deposition, but none of these subjects had any of the previously reported or novel AD-associated mutations. These results suggest that cortical and cerebrovascular A-beta depositions are useful quantitative traits for genetic studies, as highlighted by the strong associations with the APOE epsilon4 variant. Promoter mutations or common allelic variation in the A-betaPP gene do not have a major contribution to cortical or cerebrovascular A-beta deposition, or very late-onset AD in this Finnish population based study. PMID:21654062

  2. Targeted fetal hemoglobin induction for treatment of beta hemoglobinopathies.

    PubMed

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

    2014-04-01

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

  3. Sickle cell trait.

    PubMed

    Eichner, E Randy

    2007-08-01

    Sickle cell trait can pose a grave risk for some athletes. In the past few years, exertional sickling has killed nine athletes, including five college football players in training. Exercise-physiology research shows how and why sickle red cells can accumulate in the bloodstream during intense exercise bouts. Sickle cells can "logjam" blood vessels and lead to collapse from ischemic rhabdomyolysis. Diverse clinical and metabolic problems from explosive rhabdomyolysis can threaten life. Sickling can begin in 2-3 minutes of any all-out exertion, or during sustained intense exertion--and can reach grave levels very soon thereafter if the athlete struggles on or is urged on by coaches despite warning signs. Heat, dehydration, altitude, and asthma can increase the risk for and worsen sickling. This exertional sickling syndrome, however, is unique and in the field can be distinguished from heat illnesses. Sickling collapse is a medical emergency. Fortunately, screening and precautions can prevent sickling collapse and enable sickle-trait athletes to thrive in their sports. PMID:17923725

  4. FERTILITY TRAIT ECONOMICS AND CORRELATIONS WITH OTHER TRAITS

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Correlations of fertility traits (heifer fertility, interval from calving to first insemination, cow nonreturn rate, and calving interval) with yield traits (milk, fat, and protein), longevity, and somatic cell score (SCS) were compared for 11 countries. Correlations were consistent and small but al...

  5. The selectivity of beta-adrenoceptor antagonists at the human beta1, beta2 and beta3 adrenoceptors.

    PubMed

    Baker, Jillian G

    2005-02-01

    Beta-adrenoceptor antagonists ("beta-blockers") are one of the most widely used classes of drugs in cardiovascular medicine (hypertension, ischaemic heart disease and increasingly in heart failure) as well as in the management of anxiety, migraine and glaucoma. Where known, the mode of action in cardiovascular disease is from antagonism of endogenous catecholamine responses in the heart (mainly at beta1-adrenoceptors), while the worrisome side effects of bronchospasm result from airway beta2-adrenoceptor blockade. The aim of this study was to determine the selectivity of beta-antagonists for the human beta-adrenoceptor subtypes. (3)H-CGP 12177 whole cell-binding studies were undertaken in CHO cell lines stably expressing either the human beta1-, beta2- or the beta3-adrenoceptor in order to determine the affinity of ligands for each receptor subtype in the same cell background. In this study, the selectivity of well-known subtype-selective ligands was clearly demonstrated: thus, the selective beta1 antagonist CGP 20712A was 501-fold selective over beta2 and 4169-fold selective over beta3; the beta2-selective antagonist ICI 118551 was 550- and 661-fold selective over beta1 and beta3, respectively, and the selective beta3 compound CL 316243 was 10-fold selective over beta2 and more than 129-fold selective over beta1. Those beta2-adrenoceptor agonists used clinically for the treatment of asthma and COPD were beta2 selective: 29-, 61- and 2818-fold for salbutamol, terbutaline and salmeterol over beta1, respectively. There was little difference in the affinity of these ligands between beta1 and beta3 adrenoceptors. The clinically used beta-antagonists studied ranged from bisoprolol (14-fold beta1-selective) to timolol (26-fold beta2-selective). However, the majority showed little selectivity for the beta1- over the beta2-adrenoceptor, with many actually being more beta2-selective. This study shows that the beta1/beta2 selectivity of most clinically used beta-blockers is poor in intact cells, and that some compounds that are traditionally classed as "beta1-selective" actually have higher affinity for the beta2-adrenoceptor. There is therefore considerable potential for developing more selective beta-antagonists for clinical use and thereby reducing the side-effect profile of beta-blockers. PMID:15655528

  6. Evaluation of genetic diversity and root traits of sea beet accessions of the Adriatic Sea coast

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Thirty nine sea beet [Beta vulgaris L. subsp. maritima (L.) Arcang.] accessions of the Adriatic coast were screened genetically and for their adaptive morpho-functional root traits in order to identify new sources of abiotic resistances for sugar beet breeding programs. Genetic diversity was evaluat...

  7. High Beta Tokamaks

    SciTech Connect

    Cowley, S.

    1998-11-14

    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.

  8. Finite /beta/ stellarators

    SciTech Connect

    Bauer, F.; Betancourt, O.L.; Garabedian, P.R.; Shohet, J.L.

    1981-12-01

    A fully three-dimensional computer code based on an ideal magnetohydrodynamic model has been used to find stellarator configurations with finite critical values of the plasma parameter /beta/. It is established that the WISTOR-U torsatron designed at the University of Wisconsin and the Heliotron E experiment constructed at Kyoto University have average /beta/ limits near 5 percent. 10 refs.

  9. Beta-Carotene

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Beta-carotene is a pigment that occurs naturally in many photosynthetic plants and organisms and one of the most abundant carotenoids found in human blood. The richest dietary sources of beta-carotene are yellow, orange, and leafy green fruits and vegetables, such as carrots, spinach, sweet potatoes...

  10. Anxiety: States, Traits--Situations?

    ERIC Educational Resources Information Center

    Kendall, Philip C.

    1978-01-01

    Investigated the utility of situational assessments of trait anxiety in predicting state anxiety reactions. Results indicated that the STAI-A-Trait and the S-R GTA Evaluation measures correlated significantly higher with each other than either did with the S-R GTA Physical Danger measure. Both stresses produced significant increases in state

  11. Anxiety: States, Traits--Situations?

    ERIC Educational Resources Information Center

    Kendall, Philip C.

    1978-01-01

    Investigated the utility of situational assessments of trait anxiety in predicting state anxiety reactions. Results indicated that the STAI-A-Trait and the S-R GTA Evaluation measures correlated significantly higher with each other than either did with the S-R GTA Physical Danger measure. Both stresses produced significant increases in state…

  12. Trait Modification in Entomopathogenic Nematodes

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A number of beneficial traits such as virulence, reproductive potential, and environmental tolerance are key factors in determining an organisms ability to produce high levels of efficacy in biological control. Beneficial traits in entomopathogenic nematodes have been enhanced through molecular me...

  13. Delay discounting: Trait variable?

    PubMed Central

    Odum, Amy L.

    2012-01-01

    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. PMID:21385637

  14. Exaggerated trait growth in insects.

    PubMed

    Lavine, Laura; Gotoh, Hiroki; Brent, Colin S; Dworkin, Ian; Emlen, Douglas J

    2015-01-01

    Animal structures occasionally attain extreme proportions, eclipsing in size the surrounding body parts. We review insect examples of exaggerated traits, such as the mandibles of stag beetles (Lucanidae), the claspers of praying mantids (Mantidae), the elongated hindlimbs of grasshoppers (Orthoptera: Caelifera), and the giant heads of soldier ants (Formicidae) and termites (Isoptera). Developmentally, disproportionate growth can arise through trait-specific modifications to the activity of at least four pathways: the sex determination pathway, the appendage patterning pathway, the insulin/IGF signaling pathway, and the juvenile hormone/ecdysteroid pathway. Although most exaggerated traits have not been studied mechanistically, it is already apparent that distinct developmental mechanisms underlie the evolution of the different types of exaggerated traits. We suggest this reflects the nature of selection in each instance, revealing an exciting link between mechanism, form, and function. We use this information to make explicit predictions for the types of regulatory pathways likely to underlie each type of exaggerated trait. PMID:25341090

  15. Quantitative trait loci for fertility traits in Finnish Ayrshire cattle.

    PubMed

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

    2008-01-01

    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

  16. Quantitative trait loci for fertility traits in Finnish Ayrshire cattle

    PubMed Central

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

    2008-01-01

    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

  17. Rapid synthesis of beta zeolites

    SciTech Connect

    Fan, Wei; Chang, Chun -Chih; Dornath, Paul; Wang, Zhuopeng

    2015-08-18

    The invention provides methods for rapidly synthesizing heteroatom containing zeolites including Sn-Beta, Si-Beta, Ti-Beta, Zr-Beta and Fe-Beta. The methods for synthesizing heteroatom zeolites include using well-crystalline zeolite crystals as seeds and using a fluoride-free, caustic medium in a seeded dry-gel conversion method. The Beta zeolite catalysts made by the methods of the invention catalyze both isomerization and dehydration reactions.

  18. Double-beta decay

    SciTech Connect

    Moe, M.K.; Rosen, S.P.

    1989-11-01

    In a double-beta event, two neutrons decay simultaneouly into two protons, two beta rays (electrons) and two antineutrinos. Experimentalists are now searching for another form of double-beta decay, one that does not produce neutrinos or antineutrinos. If such an event is found, it could unravelone of nature's great mysteries: What, if anything, is the mass of the neutrino According to the Standard Model, the neutrino accompanying a negative beta ray is the distinct antiparticle of the one accompanying a positive beta ray. The theories that go beyond the Standard Model and assign a mass to the neutrino, however, predict that the particle emitted with a negative beta ray should be the same as the one emitted with a positive ray. In other words, the neutrino would be its own antiparticle. How can we tell whether these predictions are right Double-beta decay is the ideal process in which to seek an answer to this question. If the neutrino has mass and is its own antiparticle, then the neutrino emitted in the first stage of the process might be reaborbed in the second, yielding a form of decay in which no neutrinos materialize. 8 figs.

  19. Effect of L-type calcium channel blocker (amlodipine) on myocardial iron deposition in patients with thalassaemia with moderate-to-severe myocardial iron deposition: protocol for a randomised, controlled trial

    PubMed Central

    Shakoor, Amarah; Zahoor, Maaman; Sadaf, Alina; Alvi, Najveen; Fadoo, Zehra; Rizvi, Arjumand; Quadri, Farheen; Tipoo, Fateh Ali; Khurshid, Mohammad; Sajjad, Zaffar; Colan, Steven; Hasan, Babar S

    2014-01-01

    Introduction Sideroblastic cardiomyopathy secondary to repeated blood transfusions is a feared complication in thalassaemia. Control of myocardial iron is thus becoming the cornerstone of thalassaemia management. Recent evidence suggests a role for L-type Ca2+ channels in mediating iron uptake by the heart. Blocking the cellular iron uptake through these channels may add to the benefit of therapy to standard chelation in reducing myocardial iron. We aim to determine the efficacy of amlodipine (a calcium channel blocker) as an adjunct to standard aggressive chelation in retarding myocardial iron deposition in thalassaemics with or without cardiomyopathy. Outcomes The primary outcome is to compare the efficacy of amlodipine+chelation (intervention) versus standard chelation (control) in retarding myocardial iron deposition. Secondary outcomes include the effect of amlodipine therapy on systolic and diastolic function, strain and strain rate and liver iron content. Methods and analysis This is a single-centre, parallel-group, prospective randomised control trial. Twenty patients will be randomised in a 1:1 allocation ratio into the intervention and control arms. In addition to conventional echocardiography, MRI T2* values for assessment of cardiac and liver iron load will be obtained at baseline and at 6 and 12?months. Cardiac T2* will be reported as the geometric mean and per cent coefficient of variation, and an increase in cardiac T2* values from baseline will be used as an end point to compare the efficacy of therapy. A p Value of <0.05 will be considered significant. Study setting Department of Pediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan. Ethics and dissemination This study has been approved by the Ethics Review Committee and Clinical Trials Unit at The Aga Khan University with respect to scientific content and compliance with applicable research and human subjects regulations. Findings will be reported through scientific publications and research conferences and project summary papers for participants. Trial registration number ClinicalTrials.Gov. Registration no: NCT02065492. PMID:25492271

  20. Disorders of haemoglobin in China.

    PubMed

    Zeng, Y T; Huang, S Z

    1987-10-01

    A large scale survey of haemoglobinopathies and thalassaemia has been carried out in China, involving 900,000 people in 28 provinces. It has resulted in the finding of many new variants and some interesting cases of thalassaemia, and in a study on the chemical structure of abnormal haemoglobins and DNA analysis of thalassaemia. We report here data on haemoglobin disorders in the Chinese, mainly the characterisation of the geographical distribution of haemoglobin variants, the analysis of globin genes of alpha, beta, gamma, or delta beta thalassaemia, and the progress in prenatal diagnosis of alpha and beta thalassaemia conducted in the authors' laboratory. PMID:3500312

  1. Disorders of haemoglobin in China.

    PubMed Central

    Zeng, Y T; Huang, S Z

    1987-01-01

    A large scale survey of haemoglobinopathies and thalassaemia has been carried out in China, involving 900,000 people in 28 provinces. It has resulted in the finding of many new variants and some interesting cases of thalassaemia, and in a study on the chemical structure of abnormal haemoglobins and DNA analysis of thalassaemia. We report here data on haemoglobin disorders in the Chinese, mainly the characterisation of the geographical distribution of haemoglobin variants, the analysis of globin genes of alpha, beta, gamma, or delta beta thalassaemia, and the progress in prenatal diagnosis of alpha and beta thalassaemia conducted in the authors' laboratory. PMID:3500312

  2. High beta multipoles

    SciTech Connect

    Prager, S C

    1982-05-01

    Multipoles are being employed as devices to study fusion issues and plasma phenomena at high values of beta (plasma pressure/magnetic pressure) in a controlled manner. Due to their large volume, low magnetic field (low synchrotron radiation) region, they are also under consideration as potential steady state advanced fuel (low neutron yield) reactors. Present experiments are investigating neoclassical (bootstrap and Pfirsch-Schlueter) currents and plasma stability at extremely high beta.

  3. Quantitative trait Loci for health traits in Finnish Ayrshire cattle.

    PubMed

    Schulman, N F; Viitala, S M; de Koning, D J; Virta, J; Mki-Tanila, A; Vilkki, J H

    2004-02-01

    A whole-genome scan was conducted to search for quantitative trait loci (QTL) affecting health traits in Finnish Ayrshire dairy cattle. The mapping population consisted of 12 bulls and their 491 sons in a granddaughter design. A total of 150 markers were typed covering all 29 autosomes. The traits under study were somatic cell score, mastitis, and a group of other veterinary treatments. Effects of the QTL and positions were estimated with the regression method. When carrying out interval mapping on each chromosome, cofactors were used to adjust for QTL identified at other chromosomes. Empirical P-values were obtained by permutation. Altogether 17 QTL were detected with genomewise significant P-values in the across family analysis. Quantitative trait loci affecting SCS were identified on chromosomes 1, 3, 11, 18, 21, 24, 27, 29, and QTL for mastitis on chromosomes 14, 18. Quantitative trait loci for other veterinary treatments were found on chromosomes 1, 2, 5, 8, 15, 22, and 23. The allele substitution effects were from 0.5 to 1.7 genetic standard deviations. The positions of these health QTL did not overlap with milk QTL detected in previous studies of the same population. PMID:14762087

  4. Quantitative trait loci for biofortification traits in maize grain.

    PubMed

    Simi?, Domagoj; Mladenovi? Drini?, Snezana; Zduni?, Zvonimir; Jambrovi?, Antun; Ledencan, Tatjana; Brki?, Josip; Brki?, Andrija; Brki?, Ivan

    2012-01-01

    Detecting genes that influence biofortification traits in cereal grain could help increase the concentrations of bioavailable mineral elements in crops to solve the global mineral malnutrition problem. The aims of this study were to detect the quantitative trait loci (QTLs) for phosphorus (P), iron (Fe), zinc (Zn), and magnesium (Mg) concentrations in maize grain in a mapping population, as well as QTLs for bioavailable Fe, Zn, and Mg, by precalculating their respective ratios with P. Elemental analysis of grain samples was done by coupled plasma-optical emission spectrometry in 294 F(4) lines of a biparental population taken from field trials of over 3 years. The population was mapped using sets of 121 polymorphic markers. QTL analysis revealed 32 significant QTLs detected for 7 traits, of which some were colocalized. The Additive-dominant model revealed highly significant additive effects, suggesting that biofortification traits in maize are generally controlled by numerous small-effect QTLs. Three QTLs for Fe/P, Zn/P, and Mg/P were colocalized on chromosome 3, coinciding with simple sequence repeats marker bnlg1456, which resides in close proximity to previously identified phytase genes (ZM phys1 and phys2). Thus, we recommend the ratios as bioavailability traits in biofortification research. PMID:22071312

  5. Comparison of genomic, marker-assisted, and pedigree-BLUP selection methods to increase beta-glucan concentration in elite oat germplasm

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Beta-glucan, a soluble fiber found in oat grain, is good for human health, and selection for higher levels of this compound is regarded as an important breeding objective. Recent advances in oat DNA markers present an opportunity to investigate new selection methods for polygenic traits such as beta...

  6. Boosted Beta Regression

    PubMed Central

    Schmid, Matthias; Wickler, Florian; Maloney, Kelly O.; Mitchell, Richard; Fenske, Nora; Mayr, Andreas

    2013-01-01

    Regression analysis with a bounded outcome is a common problem in applied statistics. Typical examples include regression models for percentage outcomes and the analysis of ratings that are measured on a bounded scale. In this paper, we consider beta regression, which is a generalization of logit models to situations where the response is continuous on the interval (0,1). Consequently, beta regression is a convenient tool for analyzing percentage responses. The classical approach to fit a beta regression model is to use maximum likelihood estimation with subsequent AIC-based variable selection. As an alternative to this established - yet unstable - approach, we propose a new estimation technique called boosted beta regression. With boosted beta regression estimation and variable selection can be carried out simultaneously in a highly efficient way. Additionally, both the mean and the variance of a percentage response can be modeled using flexible nonlinear covariate effects. As a consequence, the new method accounts for common problems such as overdispersion and non-binomial variance structures. PMID:23626706

  7. Genetic dissection of grain beta-glucan and amylose content in barley (Hordeum vulgare L.)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    High beta glucan (BG) barleys (Hordeum vulgare L.) have major potential as food ingredients due to the well know health benefits. Quantitative trait loci (QTLs) associated with BG have been reported in hulled barley, however no QTL studies have been reported in hulless barley. In this study, QTL an...

  8. IO SUBSYSTEM 1 BETA

    Energy Science and Technology Software Center (ESTSC)

    2002-08-21

    "IO Subsystem Ver. 1.0 Beta" uses standard object-oriented principles to minimize dependencies between the underlying input or output database format and the client code (i.e., Sierra) using the io subsystem. The interface and priciples are simolar to the Facade pattern described in the "Design Patterns" book by Gamma, et.al. The software uses data authentication algorithms to ensure data input/output is consistent with model being defined. "IO Subsystem Ver. 1.0 Beta" is a database independent input/outputmore » library for finite element analysis, preprocessing, post processing, and translation programs.« less

  9. Ureidopenicillins and beta-lactam/beta-lactamase inhibitor combinations.

    PubMed

    Bush, L M; Johnson, C C

    2000-06-01

    Although research and development of new penicillins have declined, penicillins continue to be essential antibiotics for the treatment and prophylaxis of infectious diseases. The most recent additions are the ureidopenicillins and beta-lactam/beta-lactamase inhibitor combinations. This article reviews the spectrum of activity, toxicity, pharmacokinetics, and clinical uses of the ureidopenicillins, and the beta-lactam/beta-lactamase inhibitor combination agents. PMID:10829263

  10. QUANTITATIVE TRAIT LOCI FOR WINTER HARDINESS COMPONENT TRAITS IN OAT

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Winter hardiness is an important limitation to winter oat (Avena byzantina and A. sativa) production in much of North America, but field evaluation of winter hardiness is difficult. The discovery of quantitative trait loci for winter hardiness should allow markers assisted selection for winter hard...

  11. Genetics of reproductive traits: Antagonisms with production traits

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Animal breeding and reproductive physiology have been closely related throughout the history of animal production science, because artificial insemination provides the best method of increasing the influence of sires with superior genetics to improve production traits. The addition of genetic techn...

  12. TraitBank: An Open Digital Repository for Organism Traits

    Technology Transfer Automated Retrieval System (TEKTRAN)

    TraitBank currently serves over 11 million measurements and facts for more than 1.7 million taxa. These data are mobilized from major biodiversity information systems (e.g., International Union for Conservation of Nature, Ocean Biogeographic Information System, Paleobiology Database), literature sup...

  13. Beta limits for torsatrons

    SciTech Connect

    Bauer, F.; Betancourt, O.; Garabedian, P.; Shohet, J.L.

    1981-01-01

    An ideal magnetohydrodynamic equilibrium and stability code is used to study ballooning modes in torsatrons. The most dangerous modes turn out to be those with low poloidal and toroidal wave numbers. Beta limits for equilibrium and stability are determined for an l = 2 ultimate torsatron with large l = 1 and l = 3 sidebands.

  14. beta-Propiolactone

    Integrated Risk Information System (IRIS)

    beta - Propiolactone ; CASRN 57 - 57 - 8 Human health assessment information on a chemical substance is included in the IRIS database only after a comprehensive review of toxicity data , as outlined in the IRIS assessment development process . Sections I ( Health Hazard Assessments for Noncarcinogen

  15. beta-Chloronaphthalene

    Integrated Risk Information System (IRIS)

    beta - Chloronaphthalene ; CASRN 91 - 58 - 7 Human health assessment information on a chemical substance is included in the IRIS database only after a comprehensive review of toxicity data , as outlined in the IRIS assessment development process . Sections I ( Health Hazard Assessments for Noncarcin

  16. Trichoderma .beta.-glucosidase

    DOEpatents

    Dunn-Coleman, Nigel; Goedegebuur, Frits; Ward, Michael; Yao, Jian

    2006-01-03

    The present invention provides a novel .beta.-glucosidase nucleic acid sequence, designated bgl3, and the corresponding BGL3 amino acid sequence. The invention also provides expression vectors and host cells comprising a nucleic acid sequence encoding BGL3, recombinant BGL3 proteins and methods for producing the same.

  17. Applied Beta Dosimetry

    SciTech Connect

    Rich, B.L.

    1986-01-01

    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.

  18. Beta-2 Microglobulin Tumor Marker

    MedlinePLUS

    ... limited. Home Visit Global Sites Search Help? Beta-2 Microglobulin Tumor Marker Share this page: Was this page helpful? Also known as: B2M; B 2 M; β2-Microglobulin; Thymotaxin Formal name: Beta 2 ...

  19. Interferon Beta-1b Injection

    MedlinePLUS

    Interferon beta-1b injection is used to reduce episodes of symptoms in patients with relapsing-remitting multiple ... and problems with vision, speech, and bladder control). Interferon beta-1b is in a class of medications ...

  20. Antagonistic coevolution between quantitative and Mendelian traits.

    PubMed

    Yamamichi, Masato; Ellner, Stephen P

    2016-03-30

    Coevolution is relentlessly creating and maintaining biodiversity and therefore has been a central topic in evolutionary biology. Previous theoretical studies have mostly considered coevolution between genetically symmetric traits (i.e. coevolution between two continuous quantitative traits or two discrete Mendelian traits). However, recent empirical evidence indicates that coevolution can occur between genetically asymmetric traits (e.g. between quantitative and Mendelian traits). We examine consequences of antagonistic coevolution mediated by a quantitative predator trait and a Mendelian prey trait, such that predation is more intense with decreased phenotypic distance between their traits (phenotype matching). This antagonistic coevolution produces a complex pattern of bifurcations with bistability (initial state dependence) in a two-dimensional model for trait coevolution. Furthermore, with eco-evolutionary dynamics (so that the trait evolution affects predator-prey population dynamics), we find that coevolution can cause rich dynamics including anti-phase cycles, in-phase cycles, chaotic dynamics and deterministic predator extinction. Predator extinction is more likely to occur when the prey trait exhibits complete dominance rather than semidominance and when the predator trait evolves very rapidly. Our study illustrates how recognizing the genetic architectures of interacting ecological traits can be essential for understanding the population and evolutionary dynamics of coevolving species. PMID:27009218

  1. Associations between milk protein polymorphism and first lactation milk production traits in Finnish Ayrshire cows.

    PubMed

    Ikonen, T; Ojala, M; Ruottinen, O

    1999-05-01

    Genotypic effects of beta-casein (CN), kappa-CN, and beta-lactoglobulin (LG) on milk, fat, and protein production and fat and protein percentages were estimated for 18,686 Finnish Ayrshire cows in first lactation using an animal model. Casein genotype effects were estimated including individual beta-CN and kappa-CN simultaneously in a model and then as composite beta-kappa-CN. The A2 allele of beta-CN and the A allele of kappa-CN, as well as the A1 allele of beta-CN and the B or E allele of kappa-CN, appeared together more frequently than was expected. Because of linkage disequilibrium in the casein loci and, consequently, unbalanced data, some contradictory effects of casein genotypes were obtained with the two models. A well-founded way to estimate the effects of casein genotypes was to use beta-kappa-CN genotypes. Composite casein genotypes including the A2 allele of beta-CN were associated with the highest milk and protein production and the lowest fat content, those including the B allele of kappa-CN with the highest protein content, and those including the E allele of kappa-CN with the lowest protein content. The effect of the beta-kappa-CN genotypes on protein content was moderately strong, and the effect was somewhat smaller for other traits. The AA genotype of beta-LG had a favorable effect on milk and protein production, and the BB genotype had a favorable effect on fat content. PMID:10342242

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

    PubMed

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

    2000-06-01

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

  3. Trait Selection Preference of Preadolescents.

    ERIC Educational Resources Information Center

    Davis, Marie Somers

    This study examined the preferences of middle grade students in selecting traits for their own future infants. Sixth- and seventh-grade populations of two elementary schools (l73 males and 90 females) participated. A simulated activity entitled "Parenting l995" was developed to provide the future setting and the instrument through which to explore

  4. Exaggerated trait growth in insects

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Animal structures occasionally attain extreme proportions, eclipsing in size other, surrounding body parts. We review insect examples of exaggerated traits, such as the mandibles of stag beetles, the claspers of praying mantises, the elongated hindlimbs of grasshoppers, and the giant heads of soldie...

  5. Components of Young Children's Trait Understanding: Behavior-to-Trait Inferences and Trait-to-Behavior Predictions

    ERIC Educational Resources Information Center

    Liu, David; Gelman, Susan A.; Wellman, Henry M.

    2007-01-01

    Trait attribution is central to people's naive theories of people and their actions. Previous developmental research indicates that young children are poor at predicting behaviors from past trait-relevant behaviors. We propose that the cognitive process of behavior-to-behavior predictions consists of two component processes: (1) behavior-to-trait

  6. Misleading Betas: An Educational Example

    ERIC Educational Resources Information Center

    Chong, James; Halcoussis, Dennis; Phillips, G. Michael

    2012-01-01

    The dual-beta model is a generalization of the CAPM model. In the dual-beta model, separate beta estimates are provided for up-market and down-market days. This paper uses the historical "Anscombe quartet" results which illustrated how very different datasets can produce the same regression coefficients to motivate a discussion of the

  7. Comparison of Doppler echocardiographic and tissue Doppler velocity data in beta-thalassaemia major with high and normal NT-proBNP levels of children in the south-east region of Turkey

    PubMed Central

    ner, Taliha; Oymak, Ye?im; elik, Hseyin Tu?rul

    2014-01-01

    Background It has been reported that N-terminal pro-brain natriuretic peptide (NT-proBNP) is early biomarker of iron- induced cardiomyopathy in ?-thalassemia major (?-TM). In this study, we aimed to assess the Doppler echocardiographic, tissue Doppler velocity datas and clinical characteristics in ?-TM patients with high and normal NT-proBNP levels who have normal systolic function. Material and method Fifty-eight ?-TM patients who were on regular transfusion in every 3-4 weeks for more than one year and 20 healthy children were included into the study. According to NT-proBNP levels, ?-TM patients are divided in two groups. Group I: the patients with high NT-proBNP levels; Group II: the patients with normal NT-proBNP levels. Results The mean serum NT-proBNP levels were significantly increased in patients with ?-TM compared to control group (P<0.05). The serum ferritin levels were ranged between 676-9,476 ng/mL (mean: 3,7162,003 ng/mL) in ?-TM. No correlation was found between ferritin and NT-pro BNP in patients with ?-TM. The mean age and body surface area (BSA) were significantly low in group with high NT-proBNP compared to group with normal NT-proBNP (P<0.01). The mean heart rate, systolic blood pressure (SBP) and diastolic blood pressure (DBP) were elevated, but not significantly in group with high NT-proBNP. Also, the mean ferritin and hemoglobin levels were decreased in this group compared to group with normal NT-proBNP, but statistically not significant. The left ventricular end diastole (LVED) diameters and left ventricular mass index (LVMI) values were found significantly decreased in group with high NT-proBNP compared to other group respectively (P<0.001, P<0,05). Right ventricular early diastolic tricuspid inflow velocity/early diastolic tissue Doppler indices (TDI) tricuspid annular velocity (RV E/E?) were found increased in group with high NT-proBNP levels and difference was statistically significant (P<0.05). In addition, NT-pro BNP was found correlated with RV E/E? (r: 0.320). Conclusions According to our result, elevated NT-proBNP level was correlated with RVE/E?, but it was not associated with ferritin level. The serum NT-proBNP level may be increased as a response to increased myocardial workload and decreased hemoglobin level in patients who have an increased need for transfusion. PMID:26835348

  8. Evolution of selenium utilization traits

    PubMed Central

    Romero, Héctor; Zhang, Yan; Gladyshev, Vadim N; Salinas, Gustavo

    2005-01-01

    Background The essential trace element selenium is used in a wide variety of biological processes. Selenocysteine (Sec), the 21st amino acid, is co-translationally incorporated into a restricted set of proteins. It is encoded by an UGA codon with the help of tRNASec (SelC), Sec-specific elongation factor (SelB) and a cis-acting mRNA structure (SECIS element). In addition, Sec synthase (SelA) and selenophosphate synthetase (SelD) are involved in the biosynthesis of Sec on the tRNASec. Selenium is also found in the form of 2-selenouridine, a modified base present in the wobble position of certain tRNAs, whose synthesis is catalyzed by YbbB using selenophosphate as a precursor. Results We analyzed completely sequenced genomes for occurrence of the selA, B, C, D and ybbB genes. We found that selB and selC are gene signatures for the Sec-decoding trait. However, selD is also present in organisms that do not utilize Sec, and shows association with either selA, B, C and/or ybbB. Thus, selD defines the overall selenium utilization. A global species map of Sec-decoding and 2-selenouridine synthesis traits is provided based on the presence/absence pattern of selenium-utilization genes. The phylogenies of these genes were inferred and compared to organismal phylogenies, which identified horizontal gene transfer (HGT) events involving both traits. Conclusion These results provide evidence for the ancient origin of these traits, their independent maintenance, and a highly dynamic evolutionary process that can be explained as the result of speciation, differential gene loss and HGT. The latter demonstrated that the loss of these traits is not irreversible as previously thought. PMID:16086848

  9. ABO Blood Type and Personality Traits in Healthy Japanese Subjects

    PubMed Central

    Tsuchimine, Shoko; Saruwatari, Junji; Kaneda, Ayako; Yasui-Furukori, Norio

    2015-01-01

    There is no scientific consensus that a relationship exists between the ABO blood group and personality traits. However, a recent study hypothesized that the dopamine beta-hydroxylase (DBH) gene is in linkage with the ABO gene. The sample population consisted of 1,427 healthy Japanese subjects who completed the Temperament and Character Inventory (TCI). Each subject’s ABO blood type was determined by genotyping the rs8176719 and rs8176746 ABO gene single-nucleotide polymorphisms (SNPs) using a TaqMan genotyping assay. The relationships between the six ABO genotypes or four ABO phenotypes and personality traits were examined using a multivariate analysis of covariance (MANCOVA), controlling for age and sex. The MANCOVA data showed a significant difference in TCI scores among the ABO genotype groups (F [7, 1393] = 3.354, p = 0.001). A subsequent univariate analysis showed a significant difference in the mean scores for Persistence among the genotype groups (F = 2.680, partial η2 = 0.010, p = 0.020). Similarly, dividing the ABO blood type into four phenotypes revealed a significant difference among the phenotype groups (F [7, 1397] = 2.529, p = 0.014). A subsequent univariate analysis showed a significant difference among the phenotype groups in the mean scores for Persistence (F = 2.952, partial η2= 0.006, p = 0.032). We observed a significant association between ABO blood group genotypes and personality traits in a large number of healthy Japanese subjects. However, these results should be regarded as preliminary and should be interpreted with caution because it is possible that the association between ABO blood group genotype and the Persistence trait is relatively weak. PMID:25978647

  10. A Multicomponent Latent Trait Model for Diagnosis

    ERIC Educational Resources Information Center

    Embretson, Susan E.; Yang, Xiangdong

    2013-01-01

    This paper presents a noncompensatory latent trait model, the multicomponent latent trait model for diagnosis (MLTM-D), for cognitive diagnosis. In MLTM-D, a hierarchical relationship between components and attributes is specified to be applicable to permit diagnosis at two levels. MLTM-D is a generalization of the multicomponent latent trait

  11. Trait Affectivity and Nonreferred Adolescent Conduct Problems

    ERIC Educational Resources Information Center

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

    2006-01-01

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

  12. Freshwater Biological Traits Database (External Review Draft)

    EPA Science Inventory

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

  13. 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...

  14. Intelligence and Intelligence-Related Personality Traits.

    ERIC Educational Resources Information Center

    Mayer, John D.; And Others

    1989-01-01

    A 76-item test of intellect-related personality traits was developed and administered to 46 gifted 13 year olds, 51 undergraduates, and 53 seventh and eighth graders. Three component-based traits were obtained: intellectual absorption, apathy, and pleasure. These traits were found to be related to intellectual performance. (TJH)

  15. DETECTION OF QUANTITATIVE TRAIT LOCI AFFECTING MILK PRODUCTION, HEALTH, AND REPRODUCTIVE TRAITS IN HOLSTEIN CATTLE

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We report putative quantitative trait loci affecting female fertility and milk production traits using the merged data from groups that conducted independent genome scans in Dairy Bull DNA Repository grandsire families to identify quantitative trait loci affecting economically important traits. Six ...

  16. Heritability of drought resistance traits and correlation of drought resistance and agronomic traits in peanut

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Inheritance of traits is important for developing effective breeding schemes for improving desired traits. The aims of this study were to estimate the heritabilities (h2) of drought resistance traits and the genotypic (rG) and phenotypic (rP) correlations between drought resistance traits under str...

  17. Detection of quantitative trait loci affecting haematological traits in swine via genome scanning

    PubMed Central

    2010-01-01

    Background Haematological traits, which consist of mainly three components: leukocyte traits, erythrocyte traits and platelet traits, play extremely important role in animal immune function and disease resistance. But knowledge of the genetic background controlling variability of these traits is very limited, especially in swine. Results In the present study, 18 haematological traits (7 leukocyte traits, 7 erythrocyte traits and 4 platelet traits) were measured in a pig resource population consisting of 368 purebred piglets of three breeds (Landrace, Large White and Songliao Black Pig), after inoculation with the swine fever vaccine when the pigs were 21 days old. A whole-genome scan of QTL for these traits was performed using 206 microsatellite markers covering all 18 autosomes and the X chromosome. Using variance component analysis based on a linear mixed model and the false discovery rate (FDR) test, 35 QTL with FDR < 0.10 were identified: 3 for the leukocyte traits, 28 for the erythrocyte traits, and 4 for the platelet traits. Of the 35 QTL, 25 were significant at FDR < 0.05 level, including 9 significant at FDR < 0.01 level. Conclusions Very few QTL were previously identified for hematological traits of pigs and never in purebred populations. Most of the QTL detected here, in particular the QTL for the platelet traits, have not been reported before. Our results lay important foundation for identifying the causal genes underlying the hematological trait variations in pigs. PMID:20584270

  18. Beta-thalassemia

    PubMed Central

    2010-01-01

    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. PMID:20492708

  19. Measurement of $\\beta_s$ at CDF

    SciTech Connect

    Oakes, Louise; /Oxford U.

    2011-02-01

    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.

  20. Thermophilic Beta-Glycosidase

    NASA Technical Reports Server (NTRS)

    Grogan, Dennis W.

    1992-01-01

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

  1. Neutrinoless double beta decay

    NASA Astrophysics Data System (ADS)

    Ps, Heinrich; Rodejohann, Werner

    2015-11-01

    We review the potential to probe new physics with neutrinoless double beta decay (A,Z)\\to (A,Z+2)+2{e}-. Both the standard long-range light neutrino mechanism as well as non-standard long-range and short-range mechanisms mediated by heavy particles are discussed. We also stress aspects of the connection to lepton number violation at colliders and the implications for baryogenesis.

  2. 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...

  3. Beta* and beta-waist measurement and control at RHIC

    SciTech Connect

    Ptitsyn,V.; Della Penna, A.; Litvinenko, V.N.; Malitsky, N.; Satogata, T.

    2009-05-04

    During the course of last RHIC runs the beta-functions at the collision points ({beta}*) have been reduced gradually to 0.7m. In order to maximize the collision luminosity and ensure the agreement of the actual machine optics with the design one, more precise measurements and control of {beta}* value and {beta}-waist location became necessary. The paper presents the results of the implementation of the technique applied in last two RHIC runs. The technique is based on well-known relation between the tune shift and the beta function and involves precise betatron tune measurements using BBQ system as well as specially developed knobs for {beta}-waist location control.

  4. Secret sharing using biometric traits

    NASA Astrophysics Data System (ADS)

    Kholmatov, Alisher; Yanikoglu, Berrin; Savas, Erkay; Levi, Albert

    2006-04-01

    In biometric based authentication, biometric traits of a person are matched against his/her stored biometric profile and access is granted if there is sufficient match. However, there are other access scenarios, which require participation of multiple previously registered users for a successful authentication or to get an access grant for a certain entity. For instance, there are cryptographic constructs generally known as secret sharing schemes, where a secret is split into shares and distributed amongst participants in such a way that it is reconstructed/revealed only when the necessary number of share holders come together. The revealed secret can then be used for encryption or authentication (if the revealed key is verified against the previously registered value). In this work we propose a method for the biometric based secret sharing. Instead of splitting a secret amongst participants, as is done in cryptography, a single biometric construct is created using the biometric traits of the participants. During authentication, a valid cryptographic key is released out of the construct when the required number of genuine participants present their biometric traits.

  5. [HbD Iran-beta-thalassemia association in a Tunisian family].

    PubMed

    Guemira, F; Abbes, S; Ducrocq, R; Elion, J; Fattoum, S

    1992-06-01

    A nine-year-old boy from Bj (North-Western Tunisia) was found to have both HbD Iran and beta-thalassemia. This patient presented with anemia and slight enlargement of the spleen and had a history of acute episodes of hemolysis. Structural studies on this hemoglobin variant used several miniaturized techniques, mainly carboxy-methyl-cellulose chromatography, reverse-phase high performance liquid chromatography and manual peptide sequencing using Chang's technique. The glutamic acid in position 22 on the beta chain was found to be replaced by a glutamine, establishing the diagnosis of HbD Iran. Concomitant presence of a thalassemia trait was suggested by the finding in the index patient of microcytosis, hypochromia and increased HbA2. The family study confirmed this patient's combined heterozygous anomalies, showing the D trait in the father and the beta thalassemia trait in the mother. The same combination was found in the index patient's sister who was, however, free of clinical symptoms. The explanation of this difference in clinical expression was provided by the ADN study which disclosed deletion of an alpha gene in the girl. The resulting alpha chain deficiency counterbalanced the beta chain deficiency. PMID:1497287

  6. Associations between casein haplotypes and first lactation milk production traits in Finnish Ayrshire cows.

    PubMed

    Ikonen, T; Bovenhuis, H; Ojala, M; Ruottinen, O; Georges, M

    2001-02-01

    The objective of this study was to estimate the effects of beta-kappa-casein (CN) haplotypes on first-lactation milk production traits. The beta-kappa-CN haplotypes were deduced using information on beta- and kappa-CN genotypes of cows and their sires for 16,973 Finnish Ayrshire cows that had at least nine paternal half sibs. Effects of CN haplotypes on milk production traits were estimated for one haplotype at a time using an animal model, which included the fixed effects for calving year and month, age at calving, days open, beta-lactoglobulin, and a beta-kappa-CN haplotype. Differences in milk production traits were also estimated between haplotype combinations A1A+A2B and A1B+A2A within beta-kappa-CN genotype A1A2AB and between combinations A1E+A2A and A1A+A2E within genotype A1A2AE. The beta-kappa-CN haplotypes A2A and A2B were associated with high milk and protein yields and low fat content, and those that included the beta-CN A1 allele were associated with low yields and high fat content. Protein content was affected by the kappa-CN locus; haplotype A1B was associated with high protein content and A1E was with low protein content. The haplotype combination A1A+A2B was associated with 140 kg more milk yield (P = 0.045) and 0.03 percentage units less protein content (P = 0.055) than combination A1B+A2A, and combination A1A+A2E showed 0.02 percentage units greater protein content (P = 0.098) than A1E+A2A. These results indicate that genes linked to the CN loci contribute to the variation in milk yield and protein content. PMID:11233036

  7. Adult 'fetal-like' erythropoiesis characterizes recovery from bone marrow transplantation.

    PubMed

    Weinberg, R S; Schofield, J M; Lenes, A L; Brochstein, J; Alter, B P

    1986-07-01

    The transient fetal-like erythropoiesis which appears during recovery from bone marrow transplantation has now been examined at the level of erythroid progenitor cells. A 7-year-old boy with beta +-thalassaemia major was studied during engraftment from his beta-thalassaemia trait sister. Hb F and i antigen rose as expected. Macrocytosis never developed, but red cell size distribution became very heterogeneous. Bone marrow CFU-E and BFU-E were detected by 30 d, prior to the appearance of reticulocytes. Marrow erythroid progenitor cell numbers were normal by 146 d, while those in the blood became normal by 360 d. After transplantation globin synthesis ratios in erythroid colonies were diagnostic of thalassaemia trait, indicating engraftment. Individual erythroid colonies derived from both blood and marrow at all times during reconstitution showed no correlation of G gamma and gamma. Thus the fetal-like stress erythropoiesis of marrow expansion following transplantation was derived from adult and not fetal progenitor cells. PMID:3524655

  8. Neutron Induced Beta Radiography

    SciTech Connect

    Shaikh, A. M.; Shylaja, D.

    2011-07-15

    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.

  9. New technologies for integrating genomic, environmental and trait data.

    PubMed

    Church, George M

    2011-10-15

    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

  10. Simultaneous beta and gamma spectroscopy

    DOEpatents

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

    2010-03-23

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

  11. Theoretical efficiency of multiple-trait quantitative trait loci-assisted selection.

    PubMed

    Togashi, K; Lin, C Y

    2010-02-01

    The effectiveness of five selection methods for genetic improvement of net merit comprising trait 1 of low heritability (h(2) = 0.1) and trait 2 of high heritability (h(2) = 0.4) was examined: (i) two-trait quantitative trait loci (QTL)-assisted selection; (ii) partial QTL-assisted selection based on trait 1; (iii) partial QTL-assisted selection based on trait 2; (iv) QTL-only selection; and (v) conventional selection index without QTL information. These selection methods were compared under 72 scenarios with different combinations of the relative economic weights, the genetic correlations between traits, the ratio of QTL variance to total genetic variance of the trait, and the ratio of genetic variances between traits. The results suggest that the detection of QTL for multiple-trait QTL-assisted selection is more important when the index traits are negatively correlated than when they are positively correlated. In contrast to literature reports that single-trait marker-assisted selection (MAS) is the most efficient for low heritability traits, this study found that the identified QTL of the low heritability trait contributed negligibly to total response in net merit. This is because multiple-trait QTL-assisted selection is designed to maximize total net merit rather than the genetic response of the individual index trait as in the case of single-trait MAS. Therefore, it is not economical to identify the QTL of the low heritability traits for the improvement of total net merit. The efficient, cost-effective selection strategy is to identify the QTL of the moderate or high heritability traits of the QTL-assisted selection index to facilitate total economic returns. Detection of the QTL of the low h(2) traits for the QTL-assisted index selection is justified when the low h(2) traits have high negative genetic correlation with the other index traits and/or when both economic weights and genetic variances of the low h(2) traits are larger as compared to the other index traits of higher h(2). This study deals with theoretical efficiency of QTL-assisted selection, but the same principle applies to SNP-based genomic selection when the proportion of the genetic variance 'explained by the identified QTLs' in this study is replaced by 'explained by SNPs'. PMID:20074187

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

    PubMed

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

    2010-12-01

    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

  13. Scintillator based beta batteries

    NASA Astrophysics Data System (ADS)

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

    2013-05-01

    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.

  14. Multi-trait mimicry and the relative salience of individual traits.

    PubMed

    Kazemi, Baharan; Gamberale-Stille, Gabriella; Leimar, Olof

    2015-11-01

    Mimicry occurs when one species gains protection from predators by resembling an unprofitable model species. The degree of mimic-model similarity is variable in nature and is closely related to the number of traits that the mimic shares with its model. Here, we experimentally test the hypothesis that the relative salience of traits, as perceived by a predator, is an important determinant of the degree of mimic-model similarity required for successful mimicry. We manipulated the relative salience of the traits of a two-trait artificial model prey, and subsequently tested the survival of mimics of the different traits. The unrewarded model prey had two colour traits, black and blue, and the rewarded prey had two combinations of green, brown and grey shades. Blue tits were used as predators. We found that the birds perceived the black and blue traits to be similarly salient in one treatment, and mimic-model similarity in both traits was then required for high mimic success. In a second treatment, the blue trait was the most salient trait, and mimic-model similarity in this trait alone achieved high success. Our results thus support the idea that similar salience of model traits can explain the occurrence of multi-trait mimicry. PMID:26511051

  15. Valence Effects in Reasoning About Evaluative Traits

    PubMed Central

    Heyman, Gail D.; Giles, Jessica W.

    2010-01-01

    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

  16. Inconsistencies in spontaneous and intentional trait inferences

    PubMed Central

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

    2012-01-01

    This study explores the fMRI correlates of observers making trait inferences about other people under conflicting social cues. Participants were presented with several behavioral descriptions involving an agent that implied a particular trait. The last behavior was either consistent or inconsistent with the previously implied trait. This was done under instructions that elicited either spontaneous trait inferences (read carefully) or intentional trait inferences (infer a trait). The results revealed that when the behavioral descriptions violated earlier trait implications, regardless of instruction, the medial prefrontal cortex (mPFC) was more strongly recruited as well as the domain-general conflict network including the posterior medial frontal cortex (pmFC) and the right prefrontal cortex (rPFC). These latter two areas were more strongly activated under intentional than spontaneous instructions. These findings suggest that when trait-relevant behavioral information is inconsistent, not only is activity increased in the mentalizing network responsible for trait processing, but control is also passed to a higher level conflict monitoring network in order to detect and resolve the contradiction. PMID:22006990

  17. Cortical Gyrification Patterns Associated with Trait Anxiety

    PubMed Central

    Miskovich, Tara A.; Pedersen, Walker S.; Belleau, Emily L.; Shollenbarger, Skyler; Lisdahl, Krista M.; Larson, Christine L.

    2016-01-01

    Dispositional anxiety is a stable personality trait that is a key risk factor for internalizing disorders, and understanding the neural correlates of trait anxiety may help us better understand the development of these disorders. Abnormal cortical folding is thought to reflect differences in cortical connectivity occurring during brain development. Therefore, assessing gyrification may advance understanding of cortical development and organization associated with trait anxiety. Previous literature has revealed structural abnormalities in trait anxiety and related disorders, but no study to our knowledge has examined gyrification in trait anxiety. We utilized a relatively novel measure, the local gyrification index (LGI), to explore differences in gyrification as a function of trait anxiety. We obtained structural MRI scans using a 3T magnetic resonance scanner on 113 young adults. Results indicated a negative correlation between trait anxiety and LGI in the left superior parietal cortex, specifically the precuneus, reflecting less cortical complexity among those high on trait anxiety. Our findings suggest that aberrations in cortical gyrification in a key region of the default mode network is a correlate of trait anxiety and may reflect disrupted local parietal connectivity. PMID:26872350

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

    PubMed Central

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

    2010-01-01

    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. PMID:20959131

  19. Amyloid Beta Mediates Memory Formation

    ERIC Educational Resources Information Center

    Garcia-Osta, Ana; Alberini, Cristina M.

    2009-01-01

    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,

  20. Just a beta....

    PubMed Central

    Lytle, K. S.; Bailey, D. W.; Dorman, K. F.; Moos, M. K.

    1999-01-01

    Traditional implementation of clinical information systems follows a predictable project management process. The selection, development, implementation, and evaluation of the system and the project management aspects of those phases require considerable time and effort. The purpose of this paper is to describe the beta site implementation of a knowledge-based clinical information system in a specialty area of a southeastern hospital that followed a less than traditional approach to implementation. Highlighted are brief descriptions of the hospital's traditional process, the nontraditional process, and key findings from the experience. Preliminary analysis suggests that selection of an implementation process is contextual. Selection of elements from each of these methods may provide a more useful process. The non-traditional process approached the elements of communication, areas of responsibility, training, follow-up and leadership differently. These elements are common to both processes and provide a focal point for future research. PMID:10566425

  1. Developmental trait evolution in trilobites.

    PubMed

    Fusco, Giuseppe; Garland, Theodore; Hunt, Gene; Hughes, Nigel C

    2012-02-01

    We performed a tree-based analysis of trilobite postembryonic development in a sample of 60 species for which quantitative data on segmentation and growth increments between putative successive instars are available, and that spans much of the temporal, phylogenetic, and habitat range of the group. Three developmental traits were investigated: the developmental mode of trunk segmentation, the average per-molt growth rate, and the conformity to a constant per-molt growth rate (Dyar's rule), for which an original metric was devised. Growth rates are within the normal range with respect to other arthropods and show overall conformity to Dyar's rule. Randomization tests indicate statistically significant phylogenetic signal for growth in early juveniles but not in later stages. Among five evolutionary models fit via maximum likelihood, one in which growth rates vary independently among species, analogous to Brownian motion on a star phylogeny, is the best supported in all ontogenetic stages, although a model with a single, stationary peak to which growth rates are attracted also garners nontrivial support. These results are not consistent with unbounded, Brownian-motion-like evolutionary dynamics, but instead suggest the influence of an adaptive zone. Our results suggest that developmental traits in trilobites were relatively labile during evolutionary history. PMID:22276531

  2. Predicting neutrinoless double beta decay

    SciTech Connect

    Hirsch, M.; Villanova del Moral, A.; Valle, J.W.F.

    2005-11-01

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

  3. Quantitative Trait Loci and Epistasis for Oat Winter Hardiness Component Traits

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Winter hardiness is a complex trait and poor winter hardiness limits commercial production of winter oat. The objective of this study was to identify Quantitative Trait Loci (QTL) for the winter hardiness component traits: winter field survival, crown freeze tolerance, heading date, plant height an...

  4. ACCOUNTING FOR HETEROGENEOUS VARIANCES IN MULTI-TRAIT EVALUATION OF JERSEY TYPE TRAITS

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The multi-trait genetic evaluation system for type traits was modified to estimate adjustments for heterogeneous variance (HV) simultaneously with estimated breeding values (EBV) for final score and 14 linear traits. Each within herd-year parity variance was regressed toward a predicted variance whi...

  5. Pleiotropic patterns of quantitative trait loci for 70 murine skeletal traits.

    PubMed

    Kenney-Hunt, Jane P; Wang, Bing; Norgard, Elizabeth A; Fawcett, Gloria; Falk, Doug; Pletscher, L Susan; Jarvis, Joseph P; Roseman, Charles; Wolf, Jason; Cheverud, James M

    2008-04-01

    Quantitative trait locus (QTL) studies of a skeletal trait or a few related skeletal components are becoming commonplace, but as yet there has been no investigation of pleiotropic patterns throughout the skeleton. We present a comprehensive survey of pleiotropic patterns affecting mouse skeletal morphology in an intercross of LG/J and SM/J inbred strains (N = 1040), using QTL analysis on 70 skeletal traits. We identify 798 single-trait QTL, coalescing to 105 loci that affect on average 7-8 traits each. The number of traits affected per locus ranges from only 1 trait to 30 traits. Individual traits average 11 QTL each, ranging from 4 to 20. Skeletal traits are affected by many, small-effect loci. Significant additive genotypic values average 0.23 standard deviation (SD) units. Fifty percent of loci show codominance with heterozygotes having intermediate phenotypic values. When dominance does occur, the LG/J allele tends to be dominant to the SM/J allele (30% vs. 8%). Over- and underdominance are relatively rare (12%). Approximately one-fifth of QTL are sex specific, including many for pelvic traits. Evaluating the pleiotropic relationships of skeletal traits is important in understanding the role of genetic variation in the growth and development of the skeleton. PMID:18430949

  6. Quantitative Trait Loci and Epistasis for Oat Winter Hardiness Component Traits

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Winter hardiness is a complex trait and poor winter hardiness limits commercial production of winter oat (Avena species). The objective of this study was to identify Quantitative Trait Loci (QTL) for five winter hardiness component traits in a recombinant inbred line population derived from a cross ...

  7. Relating Stomatal Conductance to Leaf Functional Traits.

    PubMed

    Krber, Wenzel; Plath, Isa; Heklau, Heike; Bruelheide, Helge

    2015-01-01

    Leaf functional traits are important because they reflect physiological functions, such as transpiration and carbon assimilation. In particular, morphological leaf traits have the potential to summarize plants strategies in terms of water use efficiency, growth pattern and nutrient use. The leaf economics spectrum (LES) is a recognized framework in functional plant ecology and reflects a gradient of increasing specific leaf area (SLA), leaf nitrogen, phosphorus and cation content, and decreasing leaf dry matter content (LDMC) and carbon nitrogen ratio (CN). The LES describes different strategies ranging from that of short-lived leaves with high photosynthetic capacity per leaf mass to long-lived leaves with low mass-based carbon assimilation rates. However, traits that are not included in the LES might provide additional information on the species' physiology, such as those related to stomatal control. Protocols are presented for a wide range of leaf functional traits, including traits of the LES, but also traits that are independent of the LES. In particular, a new method is introduced that relates the plants' regulatory behavior in stomatal conductance to vapor pressure deficit. The resulting parameters of stomatal regulation can then be compared to the LES and other plant functional traits. The results show that functional leaf traits of the LES were also valid predictors for the parameters of stomatal regulation. For example, leaf carbon concentration was positively related to the vapor pressure deficit (vpd) at the point of inflection and the maximum of the conductance-vpd curve. However, traits that are not included in the LES added information in explaining parameters of stomatal control: the vpd at the point of inflection of the conductance-vpd curve was lower for species with higher stomatal density and higher stomatal index. Overall, stomata and vein traits were more powerful predictors for explaining stomatal regulation than traits used in the LES. PMID:26484692

  8. Relating Stomatal Conductance to Leaf Functional Traits

    PubMed Central

    Kröber, Wenzel; Plath, Isa; Heklau, Heike; Bruelheide, Helge

    2015-01-01

    Leaf functional traits are important because they reflect physiological functions, such as transpiration and carbon assimilation. In particular, morphological leaf traits have the potential to summarize plants strategies in terms of water use efficiency, growth pattern and nutrient use. The leaf economics spectrum (LES) is a recognized framework in functional plant ecology and reflects a gradient of increasing specific leaf area (SLA), leaf nitrogen, phosphorus and cation content, and decreasing leaf dry matter content (LDMC) and carbon nitrogen ratio (CN). The LES describes different strategies ranging from that of short-lived leaves with high photosynthetic capacity per leaf mass to long-lived leaves with low mass-based carbon assimilation rates. However, traits that are not included in the LES might provide additional information on the species' physiology, such as those related to stomatal control. Protocols are presented for a wide range of leaf functional traits, including traits of the LES, but also traits that are independent of the LES. In particular, a new method is introduced that relates the plants’ regulatory behavior in stomatal conductance to vapor pressure deficit. The resulting parameters of stomatal regulation can then be compared to the LES and other plant functional traits. The results show that functional leaf traits of the LES were also valid predictors for the parameters of stomatal regulation. For example, leaf carbon concentration was positively related to the vapor pressure deficit (vpd) at the point of inflection and the maximum of the conductance-vpd curve. However, traits that are not included in the LES added information in explaining parameters of stomatal control: the vpd at the point of inflection of the conductance-vpd curve was lower for species with higher stomatal density and higher stomatal index. Overall, stomata and vein traits were more powerful predictors for explaining stomatal regulation than traits used in the LES. PMID:26484692

  9. A functional trait perspective on plant invasion

    PubMed Central

    Drenovsky, Rebecca E.; Grewell, Brenda J.; D'Antonio, Carla M.; Funk, Jennifer L.; James, Jeremy J.; Molinari, Nicole; Parker, Ingrid M.; Richards, Christina L.

    2012-01-01

    Background and Aims Global environmental change will affect non-native plant invasions, with profound potential impacts on native plant populations, communities and ecosystems. In this context, we review plant functional traits, particularly those that drive invader abundance (invasiveness) and impacts, as well as the integration of these traits across multiple ecological scales, and as a basis for restoration and management. Scope We review the concepts and terminology surrounding functional traits and how functional traits influence processes at the individual level. We explore how phenotypic plasticity may lead to rapid evolution of novel traits facilitating invasiveness in changing environments and then ‘scale up’ to evaluate the relative importance of demographic traits and their links to invasion rates. We then suggest a functional trait framework for assessing per capita effects and, ultimately, impacts of invasive plants on plant communities and ecosystems. Lastly, we focus on the role of functional trait-based approaches in invasive species management and restoration in the context of rapid, global environmental change. Conclusions To understand how the abundance and impacts of invasive plants will respond to rapid environmental changes it is essential to link trait-based responses of invaders to changes in community and ecosystem properties. To do so requires a comprehensive effort that considers dynamic environmental controls and a targeted approach to understand key functional traits driving both invader abundance and impacts. If we are to predict future invasions, manage those at hand and use restoration technology to mitigate invasive species impacts, future research must focus on functional traits that promote invasiveness and invader impacts under changing conditions, and integrate major factors driving invasions from individual to ecosystem levels. PMID:22589328

  10. EEG activation differences in the pre-motor cortex and supplementary motor area between normal individuals with high and low traits of autism.

    PubMed

    Puzzo, Ignazio; Cooper, Nicholas R; Vetter, Petra; Russo, Riccardo

    2010-06-25

    The human mirror neuron system (hMNS) is believed to provide a basic mechanism for social cognition. Event-related desynchronization (ERD) in alpha (8-12Hz) and low beta band (12-20Hz) over sensori-motor cortex has been suggested to index mirror neurons' activity. We tested whether autistic traits revealed by high and low scores on the Autistic Quotient (AQ) in the normal population are linked to variations in the electroencephalogram (EEG) over motor, pre-motor cortex and supplementary motor area (SMA) during action observation. Results revealed that in the low AQ group, the pre-motor cortex and SMA were more active during hand action than static hand observation whereas in the high AQ group the same areas were active both during static and hand action observation. In fact participants with high traits of autism showed greater low beta ERD while observing the static hand than those with low traits and this low beta ERD was not significantly different when they watched hand actions. Over primary motor cortex, the classical alpha and low beta ERD during hand actions relative to static hand observation was found across all participants. These findings suggest that the observation-execution matching system works differently according to the degree of autism traits in the normal population and that this is differentiated in terms of the EEG according to scalp site and bandwidth. PMID:20435023

  11. Mapping Quantitative Trait Loci Underlying Function-Valued Traits Using Functional Principal Component Analysis and Multi-Trait Mapping

    PubMed Central

    Kwak, Il-Youp; Moore, Candace R.; Spalding, Edgar P.; Broman, Karl W.

    2015-01-01

    We previously proposed a simple regression-based method to map quantitative trait loci underlying function-valued phenotypes. In order to better handle the case of noisy phenotype measurements and accommodate the correlation structure among time points, we propose an alternative approach that maintains much of the simplicity and speed of the regression-based method. We overcome noisy measurements by replacing the observed data with a smooth approximation. We then apply functional principal component analysis, replacing the smoothed phenotype data with a small number of principal components. Quantitative trait locus mapping is applied to these dimension-reduced data, either with a multi-trait method or by considering the traits individually and then taking the average or maximum LOD score across traits. We apply these approaches to root gravitropism data on Arabidopsis recombinant inbred lines and further investigate their performance in computer simulations. Our methods have been implemented in the R package, funqtl. PMID:26530421

  12. Association between Personality Traits and Sleep Quality in Young Korean Women

    PubMed Central

    Kim, Han-Na; Cho, Juhee; Chang, Yoosoo; Ryu, Seungho

    2015-01-01

    Personality is a trait that affects behavior and lifestyle, and sleep quality is an important component of a healthy life. We analyzed the association between personality traits and sleep quality in a cross-section of 1,406 young women (from 18 to 40 years of age) who were not reporting clinically meaningful depression symptoms. Surveys were carried out from December 2011 to February 2012, using the Revised NEO Personality Inventory and the Pittsburgh Sleep Quality Index (PSQI). All analyses were adjusted for demographic and behavioral variables. We considered beta weights, structure coefficients, unique effects, and common effects when evaluating the importance of sleep quality predictors in multiple linear regression models. Neuroticism was the most important contributor to PSQI global scores in the multiple regression models. By contrast, despite being strongly correlated with sleep quality, conscientiousness had a near-zero beta weight in linear regression models, because most variance was shared with other personality traits. However, conscientiousness was the most noteworthy predictor of poor sleep quality status (PSQI≥6) in logistic regression models and individuals high in conscientiousness were least likely to have poor sleep quality, which is consistent with an OR of 0.813, with conscientiousness being protective against poor sleep quality. Personality may be a factor in poor sleep quality and should be considered in sleep interventions targeting young women. PMID:26030141

  13. Two betas or not two betas: regulation of asymmetric division by beta-catenin.

    PubMed

    Mizumoto, Kota; Sawa, Hitoshi

    2007-10-01

    In various organisms, cells divide asymmetrically to produce distinct daughter cells. In the nematode Caenorhabditis elegans, asymmetric division is controlled by the asymmetric activity of a Wnt signaling pathway (the Wnt/beta-catenin asymmetry pathway). In this process, two specialized beta-catenin homologs have crucial roles in the transmission of Wnt signals to the asymmetric activity of a T-cell factor (TCF)-type transcription factor, POP-1, in the daughter cells. One beta-catenin homolog regulates the distinct nuclear level of POP-1, and the other functions as a coactivator of POP-1. Both beta-catenins localize asymmetrically in the daughter nuclei using different mechanisms. The recent discovery of reiterative nuclear asymmetries of a highly conserved beta-catenin in an annelid suggests that similar molecular mechanisms might regulate asymmetric cell divisions in other organisms. PMID:17919911

  14. High Temperature Stability of Potassium Beta Alumina

    NASA Technical Reports Server (NTRS)

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

    1996-01-01

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

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

    PubMed

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

    2008-11-01

    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

  16. Genetic Architecture of Complex Traits in Plants

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genetic architecture refers to the numbers and genome locations of genes affecting a trait, the magnitude of their effects, and the relative contributions of additive, dominant, and epistatic gene effects. Quantitative trait locus (QTL) mapping techniques are commonly used to investigate genetic ar...

  17. Genetic Dissection of Bioenergy Traits in Sorghum

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sorghum is a very attractive biomass crop for ethanol production because of its low water and fertilizer requirements, tolerance to heat and drought, high biomass yield, and great genetic diversity. Two traits are of particular interest: The sweet sorghum trait, which results in the accumulation of ...

  18. Freshwater Biological Traits Database (Final Report)

    EPA Science Inventory

    traits_cover.jpg" vspace = "5" hspace="5" align="right" border="2" alt="Cover of the Freshwater Biological Traits Database Final Report"> This final report discusses the development of a database of freshwater biolo...

  19. Beneficial trait stability in entomopathogenic nematodes

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A number of beneficial traits such as virulence, reproductive potential, and environmental tolerance are key factors in determining an organism’s ability to produce high levels of efficacy in biological control. Deterioration or loss of beneficial traits during laboratory or industrial culture prod...

  20. Blue & C--Personality Traits of Leaders

    ERIC Educational Resources Information Center

    Freeman, Virgil

    2009-01-01

    School superintendents and school leaders can be most effective if they understand their personality traits and the traits of those they learn and work with. A school leader can maximize their effectiveness by examining their own behaviors, thinking and habits as well as recognizing the behaviors of others. The DISC Pure Behavioral styles and the

  1. Worker Traits and Worker Functions in DOT

    ERIC Educational Resources Information Center

    Broom, Leonard; And Others

    1977-01-01

    This paper, a by-product of an extension of DOT to the Australian Census Classification of Occupations, attempts to validate worker function hierarchies in terms of worker traits. It shows that variation in worker traits across 21, 741 occupations listed in DOT is closely reflected in the 197 worker function profiles. (Author)

  2. Sickle Cell Trait, Exercise, and Altitude.

    ERIC Educational Resources Information Center

    Eichner, Edward R.

    1986-01-01

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

  3. Motivational Traits of Elite Young Soccer Players

    ERIC Educational Resources Information Center

    Stewart, Craig; Meyers, Michael C.

    2004-01-01

    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

  4. 2006 BRAHMAN SIRE SUMMARY FOR CARCASS TRAITS

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Carcass and beef palatability data was collected from 1,719 calves of 230 Brahman sires. Single trait mixed models were used to predict breeding values, and subsequent Expected Progeny Differences (EPD) for six traits: 12th rib fat thickness, hot carcass weight, ribeye area, marbling score, perce...

  5. Freshwater Biological Traits Database (Final Report)

    EPA Science Inventory

    traits_cover.jpg" vspace = "5" hspace="5" align="right" border="2" alt="Cover of the Freshwater Biological Traits Database Final Report"> This final report discusses the development of a database of freshwater biolo...

  6. Trait-Based Perspectives of Leadership

    ERIC Educational Resources Information Center

    Zaccaro, Stephen J.

    2007-01-01

    The trait-based perspective of leadership has a long but checkered history. Trait approaches dominated the initial decades of scientific leadership research. Later, they were disdained for their inability to offer clear distinctions between leaders and nonleaders and for their failure to account for situational variance in leadership behavior.

  7. Biological and ecological traits of marine species

    PubMed Central

    Claus, Simon; Dekeyzer, Stefanie; Vandepitte, Leen; Tuama, Éamonn Ó; Lear, Dan; Tyler-Walters, Harvey

    2015-01-01

    This paper reviews the utility and availability of biological and ecological traits for marine species so as to prioritise the development of a world database on marine species traits. In addition, the ‘status’ of species for conservation, that is, whether they are introduced or invasive, of fishery or aquaculture interest, harmful, or used as an ecological indicator, were reviewed because these attributes are of particular interest to society. Whereas traits are an enduring characteristic of a species and/or population, a species status may vary geographically and over time. Criteria for selecting traits were that they could be applied to most taxa, were easily available, and their inclusion would result in new research and/or management applications. Numerical traits were favoured over categorical. Habitat was excluded as it can be derived from a selection of these traits. Ten traits were prioritized for inclusion in the most comprehensive open access database on marine species (World Register of Marine Species), namely taxonomic classification, environment, geography, depth, substratum, mobility, skeleton, diet, body size and reproduction. These traits and statuses are being added to the database and new use cases may further subdivide and expand upon them. PMID:26312188

  8. Valence Effects in Reasoning About Evaluative Traits

    ERIC Educational Resources Information Center

    Heyman, Gail D.; Giles, Jessica W.

    2004-01-01

    Trait conceptions, such as smart, antisocial, and shy, can serve as tools for interpreting and making predictions about the social world. An understanding of children?s trait conceptions can lead to important insights into the way children acquire an understanding of human mental life. The present study was designed to examine positivity biases

  9. Nonlinear subcritical magnetohydrodynamic beta limit

    SciTech Connect

    Waltz, R. E.

    2010-07-15

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

  10. Nonlinear subcritical magnetohydrodynamic beta limit

    NASA Astrophysics Data System (ADS)

    Waltz, R. E.

    2010-07-01

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

  11. [Genetic correlations between quality traits and other economic traits in japonica rice].

    PubMed

    L, Wen-Yan; Zhang, Jian; Shao, Guo-Jun; Zhou, Hong-Fei; Cao, Ping

    2005-07-01

    Genetic correlations among brown rice rate, chalkiness grain rate, chalkiness area and AC, and correlations between these quality traits and plant height and panicle trait were analyzed using parental seeds of 3 x 3 NC II reciprocal mating and some F2 generation seeds by the genetic model given by Zhu Jun for the selection of japonica breeding progeny. The results showed that milled rice weight and brown rice rate are highly significant correlation with maternal additive effect. The genetic covariance between genetic effect components of quality traits and agronomy traits was not significant but that between quality and other plant traits was complicated. PMID:16120586

  12. Sickle cell trait in sports.

    PubMed

    Eichner, E Randy

    2010-01-01

    Sickle cell trait (SCT) can pose a grave risk for some athletes. In the past decade in NCAA Division I football, no deaths have occurred from the play or practice of the game, but 16 deaths have occurred from conditioning for the game, and 10 (63%) of these deaths are tied to SCT, an excess of up to 21-fold. Research shows how and why, during intense exercise bouts, sickle cells can accumulate and "logjam" blood vessels, causing explosive rhabdomyolysis that can kill. Sickling can begin in 2 to 5 min of all-out exertion and can reach grave levels soon thereafter if the athlete struggles on or is urged on by coaches despite warning signs. Sickling collapse is an intensity syndrome that differs from other common causes of collapse. Tailored precautions can prevent sickling collapse and enable athletes with SCT to thrive. Irrationally intense conditioning for a game puts the lives of healthy athletes with SCT at risk. PMID:21068567

  13. Sculpture preferences and personality traits.

    PubMed

    Moffett, L A; Dreger, R M

    1975-02-01

    Factor analyzed the preference ratings of 70 male and 70 female undergraduates for 36 slides of sculpture. A principal factors solution with orthogonal rotations yielded 6 factors: ambiguous abstraction vs. controlled human realism, mildly distorted representation, emotional detachment, traditional portraiture vs. surrealism, highly distorted representation, and geometric abstraction. Some of these factors were similar to the Apollonian, the Dionysian, and the Pythagorean dimensions previously postualted by Nietzsche and Knapp. Preference scores for each factor were computed and correlated with scores on the 16 PF and with selected educational and physical variables. A few small, significant (p less than .05) correlations were found, supporting the hypothesis that artistic style preferences resemble the personality traits of the spectator. PMID:1113250

  14. Complex trait architecture: the pleiotropic model revisited

    PubMed Central

    North, T.-L.; Beaumont, M. A.

    2015-01-01

    There is currently much debate about how much the genetic heritability of complex traits is due to very rare alleles. This issue is important because it determines sampling strategies for genetic association studies. Several recent theoretical papers based on a pleiotropic model for trait evolution suggest that it is possible that a large proportion of the genetic variance could be explained by rare alleles. This model assumes that mutations with a large effect on fitness also tend to have large positive or negative effects on phenotypic traits. We show that conclusions based on standard diffusion results are generally applicable to simulations of whole genomes with overlapping generations in a finite population, although the variance contribution of rare alleles is somewhat smaller than theoretical predictions. We show that under many scenarios the pleiotropic model predicts trait distributions that are unrealistically leptokurtic. We argue that this imposes a limit on the relationship between fitness and trait effects. PMID:25792462

  15. Evolution of species trait through resource competition.

    PubMed

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

    2012-06-01

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

  16. Variants of beta-glucosidases

    SciTech Connect

    Fidantsef, Ana; Lamsa, Michael; Gorre-Clancy, Brian

    2014-10-07

    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.

  17. Variants of beta-glucosidase

    SciTech Connect

    Fidantsef, Ana; Lamsa, Michael; Gorre-Clancy, Brian

    2015-07-14

    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.

  18. Variants of beta-glucosidase

    DOEpatents

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

    2009-12-29

    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.

  19. Variants of beta-glucosidases

    DOEpatents

    Fidantsef, Ana; Lamsa, Michael; Clancy, Brian Gorre

    2008-08-19

    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.

  20. Gyrokinetic simulations at finite beta

    NASA Astrophysics Data System (ADS)

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

    2008-11-01

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

  1. Marked effect of beta-lactoglobulin polymorphism on the ratio of casein to total protein in milk.

    PubMed

    Lundn, A; Nilsson, M; Janson, L

    1997-11-01

    The relationship between genetic variants for milk protein and the composition of milk was analyzed on 4475 repeated milk samples from individual cows; 371 dairy cows of the Swedish Red and White breed and 204 cows of the Swedish Holstein breed were used. The registrations included percentages of casein, protein, fat, and lactose in combination with milk yield and SCC. The genotype of individual cows for alpha(s1)-CN, beta-CN, kappa-CN, and beta-LG was determined by alkaline and acidic PAGE. A mixed animal model was used for the analysis; beta-LG and aggregate casein genotypes were included simultaneously as separate fixed effects in the statistical model. The results suggest a positive additive effect of the beta-LG B allele on casein content and on the ratio of casein to total protein. For the latter trait, the beta-LG genotype accounted for a relatively large part of the phenotypic variance, corresponding to a reduction in residual variance of 11% when included in the model. The corresponding value for casein content was 0.5%. The lack of unfavorable associations between milk protein variants and the traits included in this study makes the beta-LG gene an obvious candidate when the breeding objective is improved conversion of milk protein into cheese. PMID:9406093

  2. Double Beta Decay

    NASA Astrophysics Data System (ADS)

    Fiorini, Ettore

    2010-12-01

    Almost exactly seventy years ago and only one year before his tragic disappearance the ingenious idea of Ettore Majorana is becoming one of the most important step in the development of fundamental physics. The problem of the nature of the neutrino, namely if it is a massless Dirac particle different from its antineutrino or a Majorana particle with finite mass, is discussed. In fact the recent results showing the presence of neutrino oscillations clearly indicates that the difference between the squared mass of neutrinos of different flavours is finite. Neutrinoless double beta decay (DBD) is at present the most powerful tool to determine the effective value of the mass of a Majorana neutrino. The results already obtained in this lepton violating process will be reported and the two presently running DBD experiments briefly discussed. The future second generation experiments will be reviewed with special emphasis to those already at least partially approved. In conclusion the peculiar and interdisciplinary nature of these searches will be stressed in their exciting aim to discover if neutrino is indeed a Majorana particle.

  3. Venus - Beta Regio

    NASA Technical Reports Server (NTRS)

    1990-01-01

    This portion of a Magellan radar image strip shows a small region on Venus 20 kilometers (12.4 miles) wide and 75 km (50 miles) long on the east flank of a major volcanic upland called Beta Regio. The image is centered at 23 degrees north latitude and 286.7 degrees east longitude. The ridge and valley network in the middle part of the image is formed by intersecting faults which have broken the Venusian crust into a complex, deformed type of surface called tessera, the Latin word for tile. The parallel mountains and valleys resemble the Basin and Range Province in the western United States. The irregular dark patch near the top of the image is a smooth surface, probably formed by lava flows in a region about 10 km (6 miles) across. Similar dark surfaces within the valleys indicate lava flows that are younger than the tessera giving an indication of the geologic time relationships of the events that formed the present surface. The image has a resolution of 120 meters (400 feet).

  4. A hierarchical bayesian approach to multi-trait clinical quantitative trait locus modeling.

    PubMed

    Mutshinda, Crispin M; Noykova, Neli; Sillanp, Mikko J

    2012-01-01

    Recent advances in high-throughput genotyping and transcript profiling technologies have enabled the inexpensive production of genome-wide dense marker maps in tandem with huge amounts of expression profiles. These large-scale data encompass valuable information about the genetic architecture of important phenotypic traits. Comprehensive models that combine molecular markers and gene transcript levels are increasingly advocated as an effective approach to dissecting the genetic architecture of complex phenotypic traits. The simultaneous utilization of marker and gene expression data to explain the variation in clinical quantitative trait, known as clinical quantitative trait locus (cQTL) mapping, poses challenges that are both conceptual and computational. Nonetheless, the hierarchical Bayesian (HB) modeling approach, in combination with modern computational tools such as Markov chain Monte Carlo (MCMC) simulation techniques, provides much versatility for cQTL analysis. Sillanp and Noykova (2008) developed a HB model for single-trait cQTL analysis in inbred line cross-data using molecular markers, gene expressions, and marker-gene expression pairs. However, clinical traits generally relate to one another through environmental correlations and/or pleiotropy. A multi-trait approach can improve on the power to detect genetic effects and on their estimation precision. A multi-trait model also provides a framework for examining a number of biologically interesting hypotheses. In this paper we extend the HB cQTL model for inbred line crosses proposed by Sillanp and Noykova to a multi-trait setting. We illustrate the implementation of our new model with simulated data, and evaluate the multi-trait model performance with regard to its single-trait counterpart. The data simulation process was based on the multi-trait cQTL model, assuming three traits with uncorrelated and correlated cQTL residuals, with the simulated data under uncorrelated cQTL residuals serving as our test set for comparing the performances of the multi-trait and single-trait models. The simulated data under correlated cQTL residuals were essentially used to assess how well our new model can estimate the cQTL residual covariance structure. The model fitting to the data was carried out by MCMC simulation through OpenBUGS. The multi-trait model outperformed its single-trait counterpart in identifying cQTLs, with a consistently lower false discovery rate. Moreover, the covariance matrix of cQTL residuals was typically estimated to an appreciable degree of precision under the multi-trait cQTL model, making our new model a promising approach to addressing a wide range of issues facing the analysis of correlated clinical traits. PMID:22685451

  5. Plasma levels of beta-endorphin, adrenocorticotropic hormone and cortisol during early and late alcohol withdrawal.

    PubMed

    Esel, E; Sofuoglu, S; Aslan, S S; Kula, M; Yabanoglu, I; Turan, M T

    2001-01-01

    Endogenous opioid peptides are thought to participate in the phenomena of alcohol tolerance and withdrawal. Since in the pituitary gland, beta-endorphin (beta-EP) and adrenocorticotropic hormone (ACTH) are produced from the same precursor molecule, pro-opiomelanocortin, it may be expected that alterations in plasma ACTH and cortisol levels should parallel changes in plasma beta-EP levels during alcohol withdrawal. The aim of the present study was to investigate the alterations of beta-EP, ACTH and cortisol secretion patterns in alcohol-dependent patients with heavy intake in the early withdrawal period and, if any, whether these changes remained stable on long-term withdrawal. Twenty-two hospitalized male patients (mean age +/- SD: 43.45 +/- 9.22 years, mean daily amount of alcohol +/- SD: 421.59 +/- 116.57 g) who were diagnosed to have alcohol withdrawal and 20 age-matched healthy men (mean age +/- SD: 38.35 +/- 7.63 years) were included in the study. Morning and night levels of plasma beta-EP, ACTH and cortisol were measured in the patients during the early (first week) and late (fourth week) withdrawal periods following alcohol cessation, and only once in the control subjects. It was found that both morning beta-EP and morning ACTH levels were reduced during both early and late withdrawals, whereas cortisol levels were increased in early withdrawal and normalized towards the late withdrawal period. The finding that beta-EP deficiency continued despite withdrawal symptoms subsiding in patients suggests that their beta-EP deficiency is independent of the withdrawal syndrome and that reduced beta-EP activity may be a trait contributing to alcohol craving. PMID:11704624

  6. Genetics Home Reference: Beta thalassemia

    MedlinePLUS

    ... a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood ... In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many ...

  7. Peginterferon Beta-1a Injection

    MedlinePLUS

    ... course of disease where symptoms flare up from time to time) of multiple sclerosis (MS, a disease in which ... peginterferon beta-1a injection at around the same time of day each time you inject it. Follow ...

  8. Questions Students Ask: Beta Decay.

    ERIC Educational Resources Information Center

    Koss, Jordan; Hartt, Kenneth

    1988-01-01

    Answers a student's question about the emission of a positron from a nucleus. Discusses the problem from the aspects of the uncertainty principle, beta decay, the Fermi Theory, and modern physics. (YP)

  9. Hydrocracking process using zeolite beta

    SciTech Connect

    Angevine, P.J.; Mitchell, K.M.; Oleck, S.M.; Shih, S.S.

    1986-09-16

    A process is described for the hydrocracking and dewaxing of a petroleum fraction comprising waxy components boiling above 345/sup 0/C., which comprises passing the fraction over a hydrocracking catalyst comprising zeolite beta and a matrix material in the presence of hydrogen and under hydrocracking conditions, the proportion of zeolite beta in the hydrocracking catalyst increasing in the direction in which the fraction is passed.

  10. Beta function and anomalous dimensions

    SciTech Connect

    Pica, Claudio; Sannino, Francesco

    2011-06-01

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

  11. Casein haplotypes and their association with milk production traits in the Finnish Ayrshire cattle.

    PubMed

    Velmala, R; Vilkki, J; Elo, K; Mki-Tanila, A

    1995-12-01

    Polymorphism of casein genes was studied in half-sib families of artificial insemination bulls of the Finnish Ayrshire dairy breed. Ten grandsires and 300 of their sons were genotyped for the following polymorphisms: alpha s1-casein (B, C), beta-casein (A1, A2), the microsatellite within the kappa-casein gene (ms5, ms4) and kappa-casein (A, B, E). Nine different combinations of these alleles, casein haplotypes, were found. Associations between casein haplotypes and milk production traits (milk and protein yield, fat and protein percentage and milking speed) were studied with ordinary least-squares analysis to find a direct effect of the haplotypes or an association within individual grandsire families using the granddaughter design. Estimated breeding values of sons were obtained from cow evaluation by animal model. No direct effect of the casein haplotypes on the traits was found. Within grandsire families, in one out of four families the chromosomal segment characterized by haplotype 3 (B-A2-ms4-A) was associated with an increase in milk yield (P < 0.01) and a decrease in fat percentage (P < 0.01) when contrasted with haplotype 8 (B-A1-ms4-E). The results provide evidence that in the Finnish Ayrshire breed at least one quantitative trait locus affecting the genetic variation in yields traits is segregating linked to either haplotype 3 (B-A2-ms4-A) or 8 (B-A1-ms4-E). PMID:8572365

  12. Mechanical differences of sickle cell trait (SCT) and normal red blood cells.

    PubMed

    Zheng, Yi; Cachia, Mark A; Ge, Ji; Xu, Zhensong; Wang, Chen; Sun, Yu

    2015-08-01

    Sickle cell trait (SCT) is a condition in which an individual inherits one sickle hemoglobin gene (HbS) and one normal beta hemoglobin gene (HbA). It has been hypothesized that under extreme physical stress, the compromised mechanical properties of the red blood cells (RBCs) may be the underlying mechanism of clinical complications of sickle cell trait individuals. However, whether sickle cell trait (SCT) should be treated as physiologically normal remains controversial. In this work, the mechanical properties (i.e., shear modulus and viscosity) of individual RBCs were quantified using a microsystem capable of precisely controlling the oxygen level of RBCs' microenvironment. Individual RBCs were deformed under shear stress. After the release of shear stress, the dynamic cell recovery process was captured and analyzed to extract the mechanical properties of single RBCs. The results demonstrate that RBCs from sickle cell trait individuals are inherently stiffer and more viscous than normal RBCs from healthy donors, but oxygen level variations do not alter their mechanical properties or morphology. PMID:26066022

  13. From Algol to Beta Lyrae

    NASA Astrophysics Data System (ADS)

    Plavec, M. J.

    Recognizing that the structure and evolutionary status of Beta Lyrae are much more complicated than for Algol, some of the problems of revealing its structure are discussed. The best model available at present considers Beta Lyrae as an Algol-type semi-detached system in a phase of fairly rapid mass transfer, i.e., younger than typical Algols. It is concluded that Beta Lyrae is not so special as it appears; some characteristics that are so puzzling in Beta Lyrae already appear in such classical Algols as U Cephei and RW Tauri. The mass-accreting components in these systems are surrounded by a hot, turbulent layer which probably expands and which is the seat of emission lines of fairly high ionization discovered in the far ultraviolet. In Beta Lyrae and the so-called W Serpenis stars, the circumstellar hot turbulent shell is much more extensive and probably also denser - a kind of 'superchromosphere'. In Beta Lyrae, a thick disk probably completely surrounds and hides the accreting star proper.

  14. Plant trait expression responds to establishment timing.

    PubMed

    Brandt, Angela J; Leahy, S Conor; Zimmerman, Nicole M; Burns, Jean H

    2015-06-01

    Trait divergence between co-occurring individuals could decrease the strength of competition between these individuals, thus promoting their coexistence. To test this hypothesis, we manipulated establishment timing for four congeneric pairs of perennial plants and assessed trait plasticity. Because soil conditions can affect trait expression and competition, we grew the plants in field-collected soil from each congener. Competition was generally weak across species, but the order of establishment affected divergence in biomass between potmates for three congeneric pairs. The type of plastic response differed among genera, with trait means of early-establishing individuals of Rumex and Solanum spp. differing from late-establishing individuals, and trait divergence between potmates of Plantago and Trifolium spp. depending on which species established first. Consistent with adaptive trait plasticity, higher specific leaf area (SLA) and root-shoot ratio in Rumex spp. established later suggest that these individuals were maximizing their ability to capture light and soil resources. Greater divergence in SLA correlated with increased summed biomass of competitors, which is consistent with trait divergence moderating the strength of competition for some species. Species did not consistently perform better in conspecific or congener soil, but soil type influenced the effect of establishment order. For example, biomass divergence between Rumex potmates was greater in R. obtusifolius soil regardless of which species established first. These results suggest that plant responses to establishment timing act in a species-specific fashion, potentially enhancing coexistence in plant communities. PMID:25616649

  15. Selective regulation of beta 1- and beta 2-adrenoceptors in the human heart by chronic beta-adrenoceptor antagonist treatment.

    PubMed Central

    Michel, M. C.; Pingsmann, A.; Beckeringh, J. J.; Zerkowski, H. R.; Doetsch, N.; Brodde, O. E.

    1988-01-01

    1. In 44 patients undergoing coronary artery bypass grafting, the effect of chronic administration of the beta-adrenoceptor antagonists sotalol, propranolol, pindolol, metoprolol and atenolol on beta-adrenoceptor density in right atria (containing 70% beta 1- and 30% beta 2-adrenoceptors) and in lymphocytes (having only beta 2-adrenoceptors) was studied. 2. beta-Adrenoceptor density in right atrial membranes and in intact lymphocytes was assessed by (-)-[125I]-iodocyanopindolol (ICYP) binding; the relative amount of right atrial beta 1- and beta 2-adrenoceptors was determined by inhibition of ICYP binding by the selective beta 2-adrenoceptor antagonist ICI 118,551 and analysis of the resulting competition curves by the iterative curve fitting programme LIGAND. 3. With the exception of pindolol, all beta-adrenoceptor antagonists increased right atrial beta-adrenoceptor density compared to that observed in atria from patients not treated with beta-adrenoceptor antagonists. 4. All beta-adrenoceptor antagonists increased right atrial beta 1-adrenoceptor density; on the other hand, only sotalol and propranolol also increased right atrial beta 2-adrenoceptor density, whereas metoprolol and atenolol did not affect it and pindolol decreased it. 5. Similarly, in corresponding lymphocytes, only sotalol or propranolol increased beta 2-adrenoceptor density, while metoprolol and atenolol did not affect it and pindolol decreased it. 6. It is concluded that beta-adrenoceptor antagonists subtype-selectively regulate cardiac and lymphocyte beta-adrenoceptor subtypes. The selective increase in cardiac beta 1-adrenoceptor density evoked by metoprolol and atenolol may be one of the reasons for the beneficial effects observed in patients with end-stage congestive cardiomyopathy following intermittent treatment with low doses of selective beta 1-adrenoceptor antagonists. PMID:2902891

  16. Beta-decay rates

    NASA Astrophysics Data System (ADS)

    Borzov, I. N.

    2006-10-01

    Major astrophysical applications involve a huge number of exotic nuclei. Their beta-decay properties play a crucial role in stellar explosive events. An important effort has been developed in last decades to measure the masses and ?-decay properties of very neutron-rich nuclei at radioactive nuclear beam facilities. However, most of them cannot be synthesized in terrestrial laboratories and only theoretical predictions can fill the gap. We will concentrate mainly on the ?-decay rates needed for stellar r-process modeling and for performing the RNB experiments. An overview of the microscopic approaches to the ?-decay strength function is given. The continuum QRPA approach based on the self-consistent ground state description in the framework of the density functional theory is outlined. For the first time, a systematic study of the total ?-decay half-lives and delayed neutron emission probabilities takes into account the Gamow Teller and first-forbidden transitions. Due to the shell configuration effects, the first-forbidden decays have a strong impact on the ?-decay characteristics of the r-process relevant nuclei at Z?28, N>50; Z?50, N>82 and Z=60 70, N?126. Suppression of the delayed neutron emission probability is found in nuclei with the neutron excess bigger than one major shell. The effect originates from the high-energy first-forbidden transitions to the states outside the (Q-B)-window in the daughter nuclei. The performance of existing global models for the nuclides near the r-process paths is critically analyzed and confronted with the recent RIB experiments in the regions of 78Ni, 132Sn and east of 208Pb.

  17. Apollo applications of beta fiber glass

    NASA Technical Reports Server (NTRS)

    Naimer, J.

    1971-01-01

    The physical characteristics of Beta fiber glass are discussed. The application of Beta fiber glass for fireproofing the interior of spacecraft compartments is described. Tests to determine the flammability of Beta fiber glass are presented. The application of Beta fiber glass for commercial purposes is examined.

  18. Neutrinoless double beta decay and neutrino masses

    SciTech Connect

    Duerr, Michael

    2012-07-27

    Neutrinoless double beta decay (0{nu}{beta}{beta}) is a promising test for lepton number violating physics beyond the standard model (SM) of particle physics. There is a deep connection between this decay and the phenomenon of neutrino masses. In particular, we will discuss the relation between 0{nu}{beta}{beta} and Majorana neutrino masses provided by the so-called Schechter-Valle theorem in a quantitative way. Furthermore, we will present an experimental cross check to discriminate 0{nu}{beta}{beta} from unknown nuclear background using only one isotope, i.e., within one experiment.

  19. From Beta Cell Replacement to Beta Cell Regeneration

    PubMed Central

    Liu, Chengcheng

    2014-01-01

    Diabetes is affecting more than 25.8 million people in the United States, causing huge burden on the health care system and economy. Insulin injection, which is the predominant treatment for diabetes, is incapable of replenishing the lost insulin-producing beta cell in patients. Restoring beta cell mass through replacement therapy such as islet transplantation or beta cell regeneration through in vitro and in vivo strategies has attracted particular attentions in the field due to its potential to cure diabetes. In the aspect of islet transplantation, gene therapy, stem cell therapy, and more biocompatible immunosuppressive drugs have been tested in various preclinical animal models to improve the longevity and function of human islets against the posttransplantation challenges. In the islet regeneration aspect, insulin-producing cells have been generated through in vitro transdifferentiation of stem cells and other types of cells and demonstrated to be capable of glycemic control. Moreover, several biomarkers including cell-surface receptors, soluble factors, and transcriptional factors have been identified or rediscovered in mediating the process of beta cell proliferation in rodents. This review summarizes the current progress and hurdles in the preclinical efforts in resurrecting beta cells. It may provide some useful insights into the future drug discovery for antidiabetic purposes. PMID:25355714

  20. Beta contamination monitor energy response

    SciTech Connect

    Bjork, C.W.; Olsher, R.H.

    1998-12-31

    Beta contamination is monitored at Los Alamos National Laboratory (LANL) with portable handheld probes and their associated counters, smear counters, air-breathing continuous air monitors (CAM), personnel contamination monitors (PCM), and hand and foot monitors (HFM). The response of these monitors was measured using a set of anodized-aluminum beta sources for the five isotopes: Carbon-14, Technetium-99, Cesium-137, Chlorine-36 and Strontium/Yttrium-90. The surface emission rates of the sources are traceable to the National Institute of Standards and Technology (NIST) with a precision of one relative standard deviation equal to 1.7%. All measurements were made in reproducible geometry, mostly using aluminum source holders. All counts, significantly above background, were collected to a precision of 1% or better. The study of the hand-held probes included measurements of six air gaps from 0.76 to 26.2 mm. The energy response of the detectors is well-parameterized as a function of the average beta energy of the isotopes (C14=50 keV, Tc99=85, Cs137=188, C136=246, and Sr/Y90=934). The authors conclude that Chlorine-36 is a suitable beta emitter for routine calibration. They recommend that a pancake Geiger-Mueller (GM) or gas-proportional counter be used for primarily beta contamination surveys with an air gap not to exceed 6 mm. Energy response varies about 30% from Tc99 to Sr/Y90 for the pancake GM detector. Dual alpha/beta probes have poor to negligible efficiency for low-energy betas. The rugged anodized sources represent partially imbedded contamination found in the field and they are provided with precise, NIST-traceable, emission rates for reliable calibration.

  1. Communication Traits: A Cross-Generalization Investigation.

    ERIC Educational Resources Information Center

    Martin, Matthew M.; Anderson, Carolyn M.

    1996-01-01

    Considers age and sex differences on aggressive and responsive communication traits. States that participants reported their verbal aggressiveness, argumentativeness, communication apprehension, cognitive flexibility, and other characteristics. Finds significant interactions for argumentativeness and verbal aggressiveness. Concludes that studying

  2. A functional trait perspective on plant invasion

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Global environmental change affects exotic plant invasions, which profoundly impact native plant populations, communities and ecosystems. In this context, we review plant functional traits, including those that drive invader abundance (invasiveness), and impacts, as well as the integration of these...

  3. Social traits modulate attention to affiliative cues

    PubMed Central

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

    2014-01-01

    Neurobehavioral models of personality suggest that the salience assigned to particular classes of stimuli vary as a function of traits that reflect both the activity of neurobiological encoding and relevant social experience. In turn, this joint influence modulates the extent that salience influences attentional processes, and hence learning about and responding to those stimuli. Applying this model to the domain of social valuation, we assessed the differential effects on attentional guidance by affiliative cues of (i) a higher-order temperament trait (Social Closeness), and (ii) attachment style in a sample of 57 women. Attention to affiliative pictures paired with either incentive or neutral pictures was assessed using camera eye-tracking. Trait social closeness and attachment avoidance interacted to modulate fixation frequency on affiliative but not on incentive pictures, suggesting that both traits influence the salience assigned to affiliative cues specifically. PMID:25009524

  4. Trait values, not trait plasticity, best explain invasive species' performance in a changing environment.

    PubMed

    Matzek, Virginia

    2012-01-01

    The question of why some introduced species become invasive and others do not is the central puzzle of invasion biology. Two of the principal explanations for this phenomenon concern functional traits: invasive species may have higher values of competitively advantageous traits than non-invasive species, or they may have greater phenotypic plasticity in traits that permits them to survive the colonization period and spread to a broad range of environments. Although there is a large body of evidence for superiority in particular traits among invasive plants, when compared to phylogenetically related non-invasive plants, it is less clear if invasive plants are more phenotypically plastic, and whether this plasticity confers a fitness advantage. In this study, I used a model group of 10 closely related Pinus species whose invader or non-invader status has been reliably characterized to test the relative contribution of high trait values and high trait plasticity to relative growth rate, a performance measure standing in as a proxy for fitness. When grown at higher nitrogen supply, invaders had a plastic RGR response, increasing their RGR to a much greater extent than non-invaders. However, invasive species did not exhibit significantly more phenotypic plasticity than non-invasive species for any of 17 functional traits, and trait plasticity indices were generally weakly correlated with RGR. Conversely, invasive species had higher values than non-invaders for 13 of the 17 traits, including higher leaf area ratio, photosynthetic capacity, photosynthetic nutrient-use efficiency, and nutrient uptake rates, and these traits were also strongly correlated with performance. I conclude that, in responding to higher N supply, superior trait values coupled with a moderate degree of trait variation explain invasive species' superior performance better than plasticity per se. PMID:23119098

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

    PubMed

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

    2014-06-01

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

  6. Integrating microbial traits into ecosystem models

    NASA Astrophysics Data System (ADS)

    Allison, S. D.

    2012-12-01

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

  7. Differential adrenergic regulation of the gene expression of the beta-adrenoceptor subtypes beta1, beta2 and beta3 in brown adipocytes.

    PubMed Central

    Bengtsson, T; Cannon, B; Nedergaard, J

    2000-01-01

    In brown adipocytes, fundamental cellular processes (cell proliferation, differentiation and apoptosis) are regulated by adrenergic stimulation, notably through beta-adrenergic receptors. The presence of all three beta-receptor subtypes has been demonstrated in brown adipose tissue. Due to the significance of the action of these receptors and indications that the subtypes govern different processes, the adrenergic regulation of the expression of the beta(1)-(,) beta(2)- and beta(3)-adrenoceptor genes was examined in murine brown-fat primary cell cultures. Moderate levels of beta(1)-receptor mRNA, absence of beta(2)-receptor mRNA and high levels of beta(3)-receptor mRNA were observed in mature brown adipocytes (day 6 in culture). Noradrenaline (norepinephrine) addition led to diametrically opposite effects on beta(1)- (markedly enhanced expression) and beta(3)-gene expression (full cessation of expression, as previously shown). beta(2)-Gene expression was induced by noradrenaline, but only transiently (<1 h). The apparent affinities (EC(50)) of noradrenaline were clearly different (7 nM for the beta(1)-gene andbeta(3)-gene), as were the mediation pathways (solely via beta(3)-receptors and cAMP for the beta(1)-gene and via beta(3)-receptors and cAMP, as well as via alpha(1)-receptors and protein kinase C, for the beta(3)-gene). The half-lives of the corresponding mRNA species were very short but different (17 min for beta(1)-mRNA and 27 min for beta(3)-mRNA), and these degradation rates were not affected by noradrenaline, implying that the mRNA levels were controlled by transcription. Inhibition of protein synthesis also led to diametrically opposite effects on beta(1)- and beta(3)-gene expression, but - notably - these effects were congruent with the noradrenaline effects, implying that a common factor regulating beta(1)-gene expression negatively and beta(3)-gene expression positively could be envisaged. In conclusion, very divergent effects of adrenergic stimulation on the expression of the different beta-receptor genes were found within one cell type, and no unifying concept of adrenergic control of beta-receptor gene expression can be formulated, either concerning different cell types, or concerning the different beta-receptor subtype genes. PMID:10769166

  8. Whole genome scan to detect quantitative trait loci for bovine milk protein composition.

    PubMed

    Schopen, G C B; Koks, P D; van Arendonk, J A M; Bovenhuis, H; Visker, M H P W

    2009-08-01

    The objective of this study was to perform a whole genome scan to detect quantitative trait loci (QTL) for milk protein composition in 849 Holstein-Friesian cows originating from seven sires. One morning milk sample was analysed for the major milk proteins using capillary zone electrophoresis. A genetic map was constructed with 1341 single nucleotide polymorphisms, covering 2829 centimorgans (cM) and 95% of the cattle genome. The chromosomal regions most significantly related to milk protein composition (P(genome) < 0.05) were found on Bos taurus autosomes (BTA) 6, 11 and 14. The QTL on BTA6 was found at about 80 cM, and affected alpha(S1)-casein, alpha(S2)-casein, beta-casein and kappa-casein. The QTL on BTA11 was found at 124 cM, and affected beta-lactoglobulin, and the QTL on BTA14 was found at 0 cM, and affected protein percentage. The proportion of phenotypic variance explained by the QTL was 3.6% for beta-casein and 7.9% for kappa-casein on BTA6, 28.3% for beta-lactoglobulin on BTA11, and 8.6% for protein percentage on BTA14. The QTL affecting alpha(S2)-casein on BTA6 and 17 showed a significant interaction. We investigated the extent to which the detected QTL affecting milk protein composition could be explained by known polymorphisms in beta-casein, kappa-casein, beta-lactoglobulin and DGAT1 genes. Correction for these polymorphisms decreased the proportion of phenotypic variance explained by the QTL previously found on BTA6, 11 and 14. Thus, several significant QTL affecting milk protein composition were found, of which some QTL could partially be explained by polymorphisms in milk protein genes. PMID:19397519

  9. Generalized Admixture Mapping for Complex Traits

    PubMed Central

    Zhu, Bin; Ashley-Koch, Allison E.; Dunson, David B.

    2013-01-01

    Admixture mapping is a popular tool to identify regions of the genome associated with traits in a recently admixed population. Existing methods have been developed primarily for identification of a single locus influencing a dichotomous trait within a case-control study design. We propose a generalized admixture mapping (GLEAM) approach, a flexible and powerful regression method for both quantitative and qualitative traits, which is able to test for association between the trait and local ancestries in multiple loci simultaneously and adjust for covariates. The new method is based on the generalized linear model and uses a quadratic normal moment prior to incorporate admixture prior information. Through simulation, we demonstrate that GLEAM achieves lower type I error rate and higher power than ANCESTRYMAP both for qualitative traits and more significantly for quantitative traits. We applied GLEAM to genome-wide SNP data from the Illumina African American panel derived from a cohort of black women participating in the Healthy Pregnancy, Healthy Baby study and identified a locus on chromosome 2 associated with the averaged maternal mean arterial pressure during 24 to 28 weeks of pregnancy. PMID:23665878

  10. Mapping complex traits as a dynamic system.

    PubMed

    Sun, Lidan; Wu, Rongling

    2015-06-01

    Despite increasing emphasis on the genetic study of quantitative traits, we are still far from being able to chart a clear picture of their genetic architecture, given an inherent complexity involved in trait formation. A competing theory for studying such complex traits has emerged by viewing their phenotypic formation as a "system" in which a high-dimensional group of interconnected components act and interact across different levels of biological organization from molecules through cells to whole organisms. This system is initiated by a machinery of DNA sequences that regulate a cascade of biochemical pathways to synthesize endophenotypes and further assemble these endophenotypes toward the end-point phenotype in virtue of various developmental changes. This review focuses on a conceptual framework for genetic mapping of complex traits by which to delineate the underlying components, interactions and mechanisms that govern the system according to biological principles and understand how these components function synergistically under the control of quantitative trait loci (QTLs) to comprise a unified whole. This framework is built by a system of differential equations that quantifies how alterations of different components lead to the global change of trait development and function, and provides a quantitative and testable platform for assessing the multiscale interplay between QTLs and development. The method will enable geneticists to shed light on the genetic complexity of any biological system and predict, alter or engineer its physiological and pathological states. PMID:25772476

  11. Mapping complex traits as a dynamic system

    NASA Astrophysics Data System (ADS)

    Sun, Lidan; Wu, Rongling

    2015-06-01

    Despite increasing emphasis on the genetic study of quantitative traits, we are still far from being able to chart a clear picture of their genetic architecture, given an inherent complexity involved in trait formation. A competing theory for studying such complex traits has emerged by viewing their phenotypic formation as a "system" in which a high-dimensional group of interconnected components act and interact across different levels of biological organization from molecules through cells to whole organisms. This system is initiated by a machinery of DNA sequences that regulate a cascade of biochemical pathways to synthesize endophenotypes and further assemble these endophenotypes toward the end-point phenotype in virtue of various developmental changes. This review focuses on a conceptual framework for genetic mapping of complex traits by which to delineate the underlying components, interactions and mechanisms that govern the system according to biological principles and understand how these components function synergistically under the control of quantitative trait loci (QTLs) to comprise a unified whole. This framework is built by a system of differential equations that quantifies how alterations of different components lead to the global change of trait development and function, and provides a quantitative and testable platform for assessing the multiscale interplay between QTLs and development. The method will enable geneticists to shed light on the genetic complexity of any biological system and predict, alter or engineer its physiological and pathological states.

  12. Using IRT Trait Estimates versus Summated Scores in Predicting Outcomes

    ERIC Educational Resources Information Center

    Xu, Ting; Stone, Clement A.

    2012-01-01

    It has been argued that item response theory trait estimates should be used in analyses rather than number right (NR) or summated scale (SS) scores. Thissen and Orlando postulated that IRT scaling tends to produce trait estimates that are linearly related to the underlying trait being measured. Therefore, IRT trait estimates can be more useful…

  13. Using IRT Trait Estimates versus Summated Scores in Predicting Outcomes

    ERIC Educational Resources Information Center

    Xu, Ting; Stone, Clement A.

    2012-01-01

    It has been argued that item response theory trait estimates should be used in analyses rather than number right (NR) or summated scale (SS) scores. Thissen and Orlando postulated that IRT scaling tends to produce trait estimates that are linearly related to the underlying trait being measured. Therefore, IRT trait estimates can be more useful

  14. Influence of beta-agonists (ractopamine HCI and zilpaterol HCI) on fecal shedding of Escherichia coli O157:H7 in feedlot cattle

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The effects of two beta-agonists [ractopamine hydrochloride (Optaflexx**R) and zilpaterol hydrochloride (Zilmax**R)], recently approved for use in feedlot cattle to improve performance traits and carcass leanness, were examined on fecal shedding of E. coli O157:H7 in feedlot cattle. Fecal samples (...

  15. A semiconductor beta ray spectometer

    NASA Astrophysics Data System (ADS)

    Bom, Victor Robert

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

  16. The beta modified Weibull distribution.

    PubMed

    Silva, Giovana O; Ortega, Edwin M M; Cordeiro, Gauss M

    2010-07-01

    A five-parameter distribution so-called the beta modified Weibull distribution is defined and studied. The new distribution contains, as special submodels, several important distributions discussed in the literature, such as the generalized modified Weibull, beta Weibull, exponentiated Weibull, beta exponential, modified Weibull and Weibull distributions, among others. The new distribution can be used effectively in the analysis of survival data since it accommodates monotone, unimodal and bathtub-shaped hazard functions. We derive the moments and examine the order statistics and their moments. We propose the method of maximum likelihood for estimating the model parameters and obtain the observed information matrix. A real data set is used to illustrate the importance and flexibility of the new distribution. PMID:20238163

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

    PubMed Central

    Hornoy, Benjamin; Tarayre, Michle; Herv, Maxime; Gigord, Luc; Atlan, Anne

    2011-01-01

    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. PMID:22022588

  18. Willingness To Collaborate as a New Communication Trait: Scale Development and a Predictive Model of Related Communication Traits.

    ERIC Educational Resources Information Center

    Anderson, Carolyn M.; And Others

    A study created and examined a new communication trait--the willingness to collaborate. The Willingness to Collaborate Trait Scale was created. Scale reliability was demonstrated through analysis of internal consistency of the 13-item scale. A communication trait model predictive of trait willingness to collaborate was tested using 401

  19. Mechanism of inactivation of alanine racemase by beta, beta, beta-trifluoroalanine

    SciTech Connect

    Faraci, W.S.; Walsh, C.T.

    1989-01-24

    The alanine racemases are a group of PLP-dependent bacterial enzymes that catalyze the racemization of alanine, providing D-alanine for cell wall synthesis. Inactivation of the alanine racemases from the Gram-negative organism Salmonella typhimurium and Gram-positive organism Bacillus stearothermophilus with beta, beta, beta-trifluoroalanine has been studied. The inactivation occurs with the same rate constant as that for formation of a broad 460-490-nm chromophore. Loss of two fluoride ions per mole of inactivated enzyme and retention of (1-/sup 14/C)trifluoroalanine label accompany inhibition, suggesting a monofluoro enzyme adduct. Partial denaturation (1 M guanidine) leads to rapid return of the initial 420-nm chromophore, followed by a slower (t1/2 approximately 30 min-1 h) loss of the fluoride ion and /sup 14/CO/sub 2/ release. At this point, reduction by NaB/sub 3/H/sub 4/ and tryptic digestion yield a single radiolabeled peptide. Purification and sequencing of the peptide reveals that lysine-38 is covalently attached to the PLP cofactor. A mechanism for enzyme inactivation by trifluoroalanine is proposed and contrasted with earlier results on monohaloalanines, in which nucleophilic attack of released aminoacrylate on the PLP aldimine leads to enzyme inactivation. For trifluoroalanine inactivation, nucleophilic attack of lysine-38 on the electrophilic beta-difluoro-alpha, beta-unsaturated imine provides an alternative mode of inhibition for these enzymes.

  20. Beta ray flux measuring device

    DOEpatents

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

    1990-01-01

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

  1. Beta Adrenergic Receptors in Keratinocytes

    PubMed Central

    Sivamani, Raja K.; Lam, Susanne T.; Isseroff, R. Rivkah

    2007-01-01

    Synopsis Beta2 adrenergic receptors were identified in keratinocytes more than 30 years ago, but their function in the epidermis continues to be elucidated. Abnormalities in their expression, signaling pathway, or in the generation of endogenous catecholamine agonists by keratinocytes have been implicated in the pathogenesis of cutaneous diseases such as atopic dermatitis, vitiligo and psoriasis. New studies also indicate that the beta2AR also modulates keratinocyte migration, and thus can function to regulate wound re-epithelialization. This review focuses on the function of these receptors in keratinocytes and their contribution to cutaneous physiology and disease. PMID:17903623

  2. Culture and personality: toward an integrated cultural trait psychology.

    PubMed

    Church, A T

    2000-08-01

    Two theoretical perspectives currently dominate research on culture and personality, the cross-cultural trait psychology approach, in which the trait concept is central, and the cultural psychology approach, in which the trait concept is questioned. Here I review theory and research from both perspectives and propose that the tenets of cultural psychology, at least in their more moderate forms, can be synthesized with the trait psychology approach, resulting in an integrated cultural trait psychology perspective. PMID:10934686

  3. Circulating integrins: alpha 5 beta 1, alpha 6 beta 4 and Mac-1, but not alpha 3 beta 1, alpha 4 beta 1 or LFA-1.

    PubMed Central

    Bretscher, M S

    1992-01-01

    The alpha 5 beta 1, alpha 6 beta 4 and Mac-1 integrins all participate in the endocytotic cycle. By contrast, alpha 3 beta 1, alpha 4 beta 1 and LFA-1 do so much more slowly, or not at all, in the cell lines examined. This indicates that the alpha-chains appear to determine whether an integrin cycles or not, and that alpha 5 beta 1, alpha 6 beta 4 and Mac-1 can be brought to the leading edge of a moving cell by endocytosis and recycling. Images PMID:1531629

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

    PubMed Central

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

    2003-01-01

    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. PMID:14668397

  5. Multiple interval mapping for quantitative trait loci.

    PubMed Central

    Kao, C H; Zeng, Z B; Teasdale, R D

    1999-01-01

    A new statistical method for mapping quantitative trait loci (QTL), called multiple interval mapping (MIM), is presented. It uses multiple marker intervals simultaneously to fit multiple putative QTL directly in the model for mapping QTL. The MIM model is based on Cockerham's model for interpreting genetic parameters and the method of maximum likelihood for estimating genetic parameters. With the MIM approach, the precision and power of QTL mapping could be improved. Also, epistasis between QTL, genotypic values of individuals, and heritabilities of quantitative traits can be readily estimated and analyzed. Using the MIM model, a stepwise selection procedure with likelihood ratio test statistic as a criterion is proposed to identify QTL. This MIM method was applied to a mapping data set of radiata pine on three traits: brown cone number, tree diameter, and branch quality scores. Based on the MIM result, seven, six, and five QTL were detected for the three traits, respectively. The detected QTL individually contributed from approximately 1 to 27% of the total genetic variation. Significant epistasis between four pairs of QTL in two traits was detected, and the four pairs of QTL contributed approximately 10.38 and 14.14% of the total genetic variation. The asymptotic variances of QTL positions and effects were also provided to construct the confidence intervals. The estimated heritabilities were 0.5606, 0.5226, and 0. 3630 for the three traits, respectively. With the estimated QTL effects and positions, the best strategy of marker-assisted selection for trait improvement for a specific purpose and requirement can be explored. The MIM FORTRAN program is available on the worldwide web (http://www.stat.sinica.edu.tw/chkao/). PMID:10388834

  6. Traits as Dimensions or Categories? Developmental Change in the Understanding of Trait Terms

    ERIC Educational Resources Information Center

    Gonzalez, Celia M.; Zosuls, Kristina M.; Ruble, Diane N.

    2010-01-01

    Recent research has suggested that young children have relatively well-developed trait concepts. However, this literature overlooks potential age-related differences in children's appreciation of the fundamentally dimensional nature of traits. In Study 1, we presented 4-, 5-, and 7-year-old children and adults with sets of characters and asked…

  7. Identifying quantitative end-use quality traits through marker-trait associations

    Technology Transfer Automated Retrieval System (TEKTRAN)

    End-use quality traits (grain, milling and baking) are generally expensive and difficult to measure. We are in the process of estimating phenotypic trait values for a wide range of Pacific Northwest wheat genotypes, including soft white spring, winter and club, hard red winter and spring, and hard ...

  8. Towards a reference plant trait ontology for modeling knowledge of plant traits and phenotypes

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Ontology engineering and knowledge modeling for the plant sciences is expected to contribute to the understanding of the basis of plant traits that determine phenotypic expression in a given environment. Several crop- or clade-specific plant trait ontologies have been developed to describe plant tr...

  9. Traits as Dimensions or Categories? Developmental Change in the Understanding of Trait Terms

    ERIC Educational Resources Information Center

    Gonzalez, Celia M.; Zosuls, Kristina M.; Ruble, Diane N.

    2010-01-01

    Recent research has suggested that young children have relatively well-developed trait concepts. However, this literature overlooks potential age-related differences in children's appreciation of the fundamentally dimensional nature of traits. In Study 1, we presented 4-, 5-, and 7-year-old children and adults with sets of characters and asked

  10. Traits, habitats, and clades: identifying traits of potential importance to environmental filtering.

    PubMed

    Mayfield, Margaret M; Boni, Maciej F; Ackerly, David D

    2009-07-01

    Environmental filtering is a fundamental process in the ecological assembly of communities. Recently developed phylogenetic tools identify patterns associated with environmental filtering across whole communities. Here we introduce a novel method that allows the detection of traits involved in the environmental filtering of species from specific clades in specific habitat types. Our approach identifies nonindependent trait/habitat/clade (THC) associations and also provides a framework for detecting clearly defined two-way trait/clade, trait/habitat, and clade/habitat associations. The THC method relies on exact binomial tests and differentiates THC associations resulting from a three-way interaction from those that are generated by one or more underlying significant two-way interactions. It can also detect THC associations for which there are no significant two-way associations (trait/habitat, trait/clade, clade/habitat). To illustrate the THC method, we examine plant pollination and dispersal traits from six habitat types in a fragmented Costa Rican landscape. Results suggest that these traits are not widely important for the environmental filtering of most clades in this landscape, but animal dispersal and insect pollination are involved in the filtering of monocots and the Piperaceae in rain forest understory. PMID:19463061

  11. 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...

  12. Are traits useful? Explaining trait manifestations as tools in the pursuit of goals.

    PubMed

    McCabe, Kira O; Fleeson, William

    2016-02-01

    Traits and motivation mainly have been treated separately for almost a century. The purpose of these studies is to test the proposal that traits and motivation are intricately linked. Specifically, that 1 explanation for traits, at least in terms of their descriptiveness of what people actually do, is the goals people pursue. Study 1 used experience-sampling methodology to show that almost half the variance in extraversion and conscientiousness manifestation was explained by goal pursuit differences. Both why people enacted more of extraversion and/or conscientiousness than others, and why people enacted extraversion and/or conscientiousness at any given moment were explained by the goals people were pursuing at those moments. Study 2 used experimental methodology to show that extraversion and conscientiousness enactment was in fact caused by the goal pursuit. Study 3 employed observer ratings to show that the goal-dependent enactments of traits were observer-verified actual behaviors. In all 3 studies, different goals affected different traits discriminatively. Thus, these findings provided strong evidence for 1 explanation of traits, that they are useful for accomplishing goals. These findings provided 1 answer to long-standing questions about the conceptual relations between traits and motivation. And these findings clarified the meaning and nature of extraversion and conscientiousness by revealing part of what these traits are for. (PsycINFO Database Record PMID:26280839

  13. "Autistic" Traits in Non-Autistic Japanese Populations: Relationships with Personality Traits and Cognitive Ability

    ERIC Educational Resources Information Center

    Kunihira, Yura; Senju, Atsushi; Dairoku, Hitoshi; Wakabayashi, Akio; Hasegawa, Toshikazu

    2006-01-01

    We explored the relationships between "autistic" traits as measured by the AQ (Autism-Spectrum Quotient; Baron-Cohen et al., J. Autism Develop. Disord. (2001b) 31 5) and various personality traits or cognitive ability, which usually coincide with autistic symptoms, for general populations. Results showed the AQ was associated with tendencies

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

    PubMed Central

    2013-01-01

    Background The use of ontologies to standardize biological data and facilitate comparisons among datasets has steadily grown as the complexity and amount of available data have increased. Despite the numerous ontologies available, one area currently lacking a robust ontology is the description of vertebrate traits. A trait is defined as any measurable or observable characteristic pertaining to an organism or any of its substructures. While there are several ontologies to describe entities and processes in phenotypes, diseases, and clinical measurements, one has not been developed for vertebrate traits; the Vertebrate Trait Ontology (VT) was created to fill this void. Description Significant inconsistencies in trait nomenclature exist in the literature, and additional difficulties arise when trait data are compared across species. The VT is a unified trait vocabulary created to aid in the transfer of data within and between species and to facilitate investigation of the genetic basis of traits. Trait information provides a valuable link between the measurements that are used to assess the trait, the phenotypes related to the traits, and the diseases associated with one or more phenotypes. Because multiple clinical and morphological measurements are often used to assess a single trait, and a single measurement can be used to assess multiple physiological processes, providing investigators with standardized annotations for trait data will allow them to investigate connections among these data types. Conclusions The annotation of genomic data with ontology terms provides unique opportunities for data mining and analysis. Links between data in disparate databases can be identified and explored, a strategy that is particularly useful for cross-species comparisons or in situations involving inconsistent terminology. The VT provides a common basis for the description of traits in multiple vertebrate species. It is being used in the Rat Genome Database and Animal QTL Database for annotation of QTL data for rat, cattle, chicken, swine, sheep, and rainbow trout, and in the Mouse Phenome Database to annotate strain characterization data. In these databases, data are also cross-referenced to applicable terms from other ontologies, providing additional avenues for data mining and analysis. The ontology is available at http://bioportal.bioontology.org/ontologies/50138. PMID:23937709

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

    PubMed

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

    2014-05-01

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

  16. Local-scale Partitioning of Functional and Phylogenetic Beta Diversity in a Tropical Tree Assemblage.

    PubMed

    Yang, Jie; Swenson, Nathan G; Zhang, Guocheng; Ci, Xiuqin; Cao, Min; Sha, Liqing; Li, Jie; Ferry Slik, J W; Lin, Luxiang

    2015-01-01

    The relative degree to which stochastic and deterministic processes underpin community assembly is a central problem in ecology. Quantifying local-scale phylogenetic and functional beta diversity may shed new light on this problem. We used species distribution, soil, trait and phylogenetic data to quantify whether environmental distance, geographic distance or their combination are the strongest predictors of phylogenetic and functional beta diversity on local scales in a 20-ha tropical seasonal rainforest dynamics plot in southwest China. The patterns of phylogenetic and functional beta diversity were generally consistent. The phylogenetic and functional dissimilarity between subplots (10 10 m, 20 20 m, 50 50 m and 100 100 m) was often higher than that expected by chance. The turnover of lineages and species function within habitats was generally slower than that across habitats. Partitioning the variation in phylogenetic and functional beta diversity showed that environmental distance was generally a better predictor of beta diversity than geographic distance thereby lending relatively more support for deterministic environmental filtering over stochastic processes. Overall, our results highlight that deterministic processes play a stronger role than stochastic processes in structuring community composition in this diverse assemblage of tropical trees. PMID:26235237

  17. Local-scale Partitioning of Functional and Phylogenetic Beta Diversity in a Tropical Tree Assemblage

    PubMed Central

    Yang, Jie; Swenson, Nathan G.; Zhang, Guocheng; Ci, Xiuqin; Cao, Min; Sha, Liqing; Li, Jie; Ferry Slik, J. W.; Lin, Luxiang

    2015-01-01

    The relative degree to which stochastic and deterministic processes underpin community assembly is a central problem in ecology. Quantifying local-scale phylogenetic and functional beta diversity may shed new light on this problem. We used species distribution, soil, trait and phylogenetic data to quantify whether environmental distance, geographic distance or their combination are the strongest predictors of phylogenetic and functional beta diversity on local scales in a 20-ha tropical seasonal rainforest dynamics plot in southwest China. The patterns of phylogenetic and functional beta diversity were generally consistent. The phylogenetic and functional dissimilarity between subplots (10 × 10 m, 20 × 20 m, 50 × 50 m and 100 × 100 m) was often higher than that expected by chance. The turnover of lineages and species function within habitats was generally slower than that across habitats. Partitioning the variation in phylogenetic and functional beta diversity showed that environmental distance was generally a better predictor of beta diversity than geographic distance thereby lending relatively more support for deterministic environmental filtering over stochastic processes. Overall, our results highlight that deterministic processes play a stronger role than stochastic processes in structuring community composition in this diverse assemblage of tropical trees. PMID:26235237

  18. Utilization of denaturing gradient gel electrophoresis for diagnosis of {beta}-thalassemia and ascertainment of new mutations

    SciTech Connect

    Ngo, K.Y.; Liu, D.; Lee, J.

    1994-09-01

    During the past two years we have tested 2,300 Southeast Asians for alpha- and beta-thaleassemia mutations. We found the incidence of hemoglobin E ({beta}{sup 26}) to be 47% among Laotians and 38% among Cambodians. The incidence of beta thalassemia trait is 9% for Laotians and 6% for Cambodians. Thus, the risk for hemoglobin E/{beta}{sup 26} thalassemia, a transfusion-dependent disorder, is increased in these two population groups. Denaturing gradient gel electrophoresis (DGGE) has proven to be useful in testing for beta-thalassemia carriers and identifying new mutations in the beta globin gene. DNA was extracted from venous blood obtained from patients with elevated Hgb A2 (>4%). Five DNA fragments, encompassing the beta globin gene cluster, were amplified by PCR and analyzed, along with known beta gene mutations as controls, by DGGE using different denaturing gradient concentrations. Different mutations at the same nucleotide position can be distinguished by migration pattern on the DGGE (e.g., in IVS-I-1, G{r_arrow}A and T). Compound heterozygotes for {beta}-thalassemia can be detected on the same gel (e.g., HbE/mutation codon 17). New mutations are identified by their migration pattern compared with controls and determined by subsequent sequencing. We have identified three new mutations: codon 82 CAA{r_arrow}AAA in one Cambodian patient; IVS-II-667, T{r_arrow}C and IVS-II-672, A{r_arrow}C in two Laotian patients. When the parent`s genotypes are known, prenatal diagnosis can be obtained within 24 hours. Thus, PCR/DGGE combination is a rapid and reliable diagnostic approach to clinically significant {beta}-thalassemia. The most important steps are carefully designed primers and predetermined gradient concentrations for DGGE.

  19. Caliber Schools. Caliber: Beta Academy

    ERIC Educational Resources Information Center

    EDUCAUSE, 2015

    2015-01-01

    Caliber: Beta Academy is reimagining education as we know it, with the belief that the innovations in its model will allow 100% of its students to graduate ready to attend and succeed in a competitive four-year college and beyond. The academic model of the school features personalized learning plans, blended learning for English and math,

  20. Caliber Schools. Caliber: Beta Academy

    ERIC Educational Resources Information Center

    EDUCAUSE, 2015

    2015-01-01

    Caliber: Beta Academy is reimagining education as we know it, with the belief that the innovations in its model will allow 100% of its students to graduate ready to attend and succeed in a competitive four-year college and beyond. The academic model of the school features personalized learning plans, blended learning for English and math,…

  1. TOPICAL REVIEW: Beta-beams

    NASA Astrophysics Data System (ADS)

    Volpe, Cristina

    2007-01-01

    Neutrino physics is traversing an exciting period after the important discovery that neutrinos are massive particles, which has implications from high-energy physics to cosmology. A new method for the production of intense and pure neutrino beams has been proposed recently: the 'beta-beam'. It exploits boosted radioactive ions decaying through beta-decay. This novel concept has been the starting point for a possible new future facility. Its main goal is to address the crucial issue of the existence of CP violation in the lepton sector. Here we review the status and the recent developments of beta-beams. We discuss the original, the medium and high-energy scenarios as well as mono-chromatic neutrino beams produced through ion electron-capture. The issue of the degeneracies is mentioned. An overview of low energy beta-beams is also presented. These beams can be used to perform experiments of interest for nuclear structure, for the study of fundamental interactions and for nuclear astrophysics.

  2. Deterministic tropical tree community turnover: evidence from patterns of functional beta diversity along an elevational gradient

    PubMed Central

    Swenson, Nathan G.; Anglada-Cordero, Pedro; Barone, John A.

    2011-01-01

    Explaining the mechanisms that produce the enormous diversity within and between tropical tree communities is a pressing challenge for plant community ecologists. Mechanistic hypotheses range from niche-based deterministic to dispersal-based stochastic models. Strong tests of these hypotheses require detailed information regarding the functional strategies of species. A few tropical studies to date have examined trait dispersion within individual forest plots using species trait means in order to ask whether coexisting species tend to be more or less functionally similar than expected given a null model. The present work takes an alternative approach by: (i) explicitly incorporating population-level trait variability; and (ii) quantifying the functional beta diversity in a series of 15 tropical forest plots arrayed along an elevational gradient. The results show a strong pattern of decay in community functional similarity with elevation. These observed patterns of functional beta diversity are shown to be highly non-random and support a deterministic model of tropical tree community assembly and turnover. PMID:20861048

  3. Multiple quantitative trait analysis using bayesian networks.

    PubMed

    Scutari, Marco; Howell, Phil; Balding, David J; Mackay, Ian

    2014-09-01

    Models for genome-wide prediction and association studies usually target a single phenotypic trait. However, in animal and plant genetics it is common to record information on multiple phenotypes for each individual that will be genotyped. Modeling traits individually disregards the fact that they are most likely associated due to pleiotropy and shared biological basis, thus providing only a partial, confounded view of genetic effects and phenotypic interactions. In this article we use data from a Multiparent Advanced Generation Inter-Cross (MAGIC) winter wheat population to explore Bayesian networks as a convenient and interpretable framework for the simultaneous modeling of multiple quantitative traits. We show that they are equivalent to multivariate genetic best linear unbiased prediction (GBLUP) and that they are competitive with single-trait elastic net and single-trait GBLUP in predictive performance. Finally, we discuss their relationship with other additive-effects models and their advantages in inference and interpretation. MAGIC populations provide an ideal setting for this kind of investigation because the very low population structure and large sample size result in predictive models with good power and limited confounding due to relatedness. PMID:25236454

  4. Spatial mosaic evolution of snail defensive traits

    PubMed Central

    Johnson, Steven G; Hulsey, C Darrin; de Len, Francisco J Garca

    2007-01-01

    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. PMID:17397540

  5. Multiple Quantitative Trait Analysis Using Bayesian Networks

    PubMed Central

    Scutari, Marco; Howell, Phil; Balding, David J.; Mackay, Ian

    2014-01-01

    Models for genome-wide prediction and association studies usually target a single phenotypic trait. However, in animal and plant genetics it is common to record information on multiple phenotypes for each individual that will be genotyped. Modeling traits individually disregards the fact that they are most likely associated due to pleiotropy and shared biological basis, thus providing only a partial, confounded view of genetic effects and phenotypic interactions. In this article we use data from a Multiparent Advanced Generation Inter-Cross (MAGIC) winter wheat population to explore Bayesian networks as a convenient and interpretable framework for the simultaneous modeling of multiple quantitative traits. We show that they are equivalent to multivariate genetic best linear unbiased prediction (GBLUP) and that they are competitive with single-trait elastic net and single-trait GBLUP in predictive performance. Finally, we discuss their relationship with other additive-effects models and their advantages in inference and interpretation. MAGIC populations provide an ideal setting for this kind of investigation because the very low population structure and large sample size result in predictive models with good power and limited confounding due to relatedness. PMID:25236454

  6. Epistasis for quantitative traits in Drosophila.

    PubMed

    Mackay, Trudy F C

    2015-01-01

    The role of gene-gene interactions in the genetic architecture of quantitative traits is controversial, despite the biological plausibility of nonlinear molecular interactions underpinning variation in quantitative traits. In strictly outbreeding populations, genetic architecture is inferred indirectly by estimating variance components; however, failure to detect epistatic variance does not mean lack of epistatic gene action and is even consistent with pervasive epistasis. In Drosophila, more focused approaches to detecting epistatic gene action are possible, based on the ability to create de novo mutations and perform crosses among them; to construct inbred lines, artificial selection lines, and chromosome substitution lines; to map quantitative trait loci affecting complex traits by linkage and association; and to evaluate effects of induced mutations on multiple wild-derived backgrounds. Here, I review evidence for epistasis in Drosophila from the application of these methods, and conclude that additivity is an emergent property of underlying epistatic gene action for Drosophila quantitative traits. Such studies can be used to infer novel, highly interconnected genetic networks that are enriched for gene ontology categories and metabolic and cellular pathways. The consequence of epistasis is that the main effects of each of the interacting loci depend on allele frequency, which negatively impacts the predictive ability of additive models. Finally, epistasis results in hidden quantitative genetic variation in natural populations (genetic canalization) and the potential for rapid evolution of Dobzhansky-Muller incompatibilities (speciation). PMID:25403527

  7. Evaluating simulated functional trait patterns and quantifying modelled trait diversity effects on simulated ecosystem fluxes

    NASA Astrophysics Data System (ADS)

    Pavlick, R.; Schimel, D.

    2014-12-01

    Dynamic Global Vegetation Models (DGVMs) typically employ only a small set of Plant Functional Types (PFTs) to represent the vast diversity of observed vegetation forms and functioning. There is growing evidence, however, that this abstraction may not adequately represent the observed variation in plant functional traits, which is thought to play an important role for many ecosystem functions and for ecosystem resilience to environmental change. The geographic distribution of PFTs in these models is also often based on empirical relationships between present-day climate and vegetation patterns. Projections of future climate change, however, point toward the possibility of novel regional climates, which could lead to no-analog vegetation compositions incompatible with the PFT paradigm. Here, we present results from the Jena Diversity-DGVM (JeDi-DGVM), a novel traits-based vegetation model, which simulates a large number of hypothetical plant growth strategies constrained by functional tradeoffs, thereby allowing for a more flexible temporal and spatial representation of the terrestrial biosphere. First, we compare simulated present-day geographical patterns of functional traits with empirical trait observations (in-situ and from airborne imaging spectroscopy). The observed trait patterns are then used to improve the tradeoff parameterizations of JeDi-DGVM. Finally, focusing primarily on the simulated leaf traits, we run the model with various amounts of trait diversity. We quantify the effects of these modeled biodiversity manipulations on simulated ecosystem fluxes and stocks for both present-day conditions and transient climate change scenarios. The simulation results reveal that the coarse treatment of plant functional traits by current PFT-based vegetation models may contribute substantial uncertainty regarding carbon-climate feedbacks. Further development of trait-based models and further investment in global in-situ and spectroscopic plant trait observations are needed.

  8. Variation in species diversity and functional traits of sponge communities near human populations in Bocas del Toro, Panama

    PubMed Central

    Matterson, Kenan O.; Freeman, Christopher J.; Archer, Stephanie K.; Thacker, Robert W.

    2015-01-01

    Recent studies have renewed interest in sponge ecology by emphasizing the functional importance of sponges in a broad array of ecosystem services. Many critically important habitats occupied by sponges face chronic stressors that might lead to alterations in their diversity, relatedness, and functional attributes. We addressed whether proximity to human activity might be a significant factor in structuring sponge community composition, as well as potential functional roles, by monitoring sponge diversity and abundance at two structurally similar sites that vary in distance to areas of high coastal development in Bocas Del Toro, Panama. We surveyed sponge communities at each site using belt transects and differences between two sites were compared using the following variables: (1) sponge species richness, Shannon diversity, and inverse Simpson’s diversity; (2) phylogenetic diversity; (3) taxonomic and phylogenetic beta diversity; (4) trait diversity and dissimilarity; and (5) phylogenetic and trait patterns in community structure. We observed significantly higher sponge diversity at Punta Caracol, the site most distant from human development (∼5 km). Although phylogenetic diversity was lower at Saigon Bay, the site adjacent to a large village including many houses, businesses, and an airport, the sites did not exhibit significantly different patterns of phylogenetic relatedness in species composition. However, each site had a distinct taxonomic and phylogenetic composition (beta diversity). In addition, the sponge community at Saigon included a higher relative abundance of sponges with high microbial abundance and high chlorophyll a concentration, whereas the community at Punta Caracol had a more even distribution of these traits, yielding a significant difference in functional trait diversity between sites. These results suggest that lower diversity and potentially altered community function might be associated with proximity to human populations. This study highlights the importance of evaluating functional traits and phylogenetic diversity in addition to common diversity metrics when assessing potential environmental impacts on benthic communities. PMID:26587347

  9. Variation in species diversity and functional traits of sponge communities near human populations in Bocas del Toro, Panama.

    PubMed

    Easson, Cole G; Matterson, Kenan O; Freeman, Christopher J; Archer, Stephanie K; Thacker, Robert W

    2015-01-01

    Recent studies have renewed interest in sponge ecology by emphasizing the functional importance of sponges in a broad array of ecosystem services. Many critically important habitats occupied by sponges face chronic stressors that might lead to alterations in their diversity, relatedness, and functional attributes. We addressed whether proximity to human activity might be a significant factor in structuring sponge community composition, as well as potential functional roles, by monitoring sponge diversity and abundance at two structurally similar sites that vary in distance to areas of high coastal development in Bocas Del Toro, Panama. We surveyed sponge communities at each site using belt transects and differences between two sites were compared using the following variables: (1) sponge species richness, Shannon diversity, and inverse Simpson's diversity; (2) phylogenetic diversity; (3) taxonomic and phylogenetic beta diversity; (4) trait diversity and dissimilarity; and (5) phylogenetic and trait patterns in community structure. We observed significantly higher sponge diversity at Punta Caracol, the site most distant from human development (∼5 km). Although phylogenetic diversity was lower at Saigon Bay, the site adjacent to a large village including many houses, businesses, and an airport, the sites did not exhibit significantly different patterns of phylogenetic relatedness in species composition. However, each site had a distinct taxonomic and phylogenetic composition (beta diversity). In addition, the sponge community at Saigon included a higher relative abundance of sponges with high microbial abundance and high chlorophyll a concentration, whereas the community at Punta Caracol had a more even distribution of these traits, yielding a significant difference in functional trait diversity between sites. These results suggest that lower diversity and potentially altered community function might be associated with proximity to human populations. This study highlights the importance of evaluating functional traits and phylogenetic diversity in addition to common diversity metrics when assessing potential environmental impacts on benthic communities. PMID:26587347

  10. Neoclassical transport in high [beta] tokamaks

    SciTech Connect

    Cowley, S.C.

    1992-12-01

    Neoclassical, transport in high [beta] large aspect ratio tokamaks is calculated. The variational method introduced by Rosenbluth, et al., is used to calculate the full Onsager matrix in the banana regime. These results are part of a continuing study of the high [beta] large aspect ratio equilibria introduced in Cowley, et al. All the neoclassical coefficients are reduced from their nominal low [beta] values by a factor ([var epsilon]/q[sup 2][beta])[sup [1/2

  11. About Thalassemia

    MedlinePLUS

    ... English) Alpha Thalassemia Trait (Cambodian) Alpha Thalassemia Trait (Chinese) Alpha Thalassemia Trait (Hmong) Alpha Thalassemia Trait (Spanish) ... English) Beta Thalassemia Trait (Cambodian) Beta Thalassemia Trait (Chinese) Beta Thalassemia Trait (Greek) Beta Thalassemia Trait (Karen) ...

  12. Systems genetics approaches to understand complex traits

    PubMed Central

    Civelek, Mete; Lusis, Aldons J.

    2014-01-01

    Systems genetics is an approach to understand the flow of biological information that underlies complex traits. It uses a range of experimental and statistical methods to quantitate and integrate intermediate phenotypes, such as transcript, protein or metabolite levels, in populations that vary for traits of interest. Systems genetics studies have provided the first global view of the molecular architecture of complex traits and are useful for the identification of genes, pathways and networks that underlie common human diseases. Given the urgent need to understand how the thousands of loci that have been identified in genome-wide association studies contribute to disease susceptibility, systems genetics is likely to become an increasingly important approach to understanding both biology and disease. PMID:24296534

  13. Enhanced visual detection in trait anxiety.

    PubMed

    Berggren, Nick; Blonievsky, Thomas; Derakshan, Nazanin

    2015-08-01

    There is much evidence suggesting that trait anxiety is associated with impairments in the cognitive control of attention. Recent findings, though, have suggested that anxiety may also influence perception, conversely enhancing early information processing. The present study investigated this claim within a visual detection task. Participants searched for a target letter among a number of nontarget letters, varied to modulate the demands or load on perception, while also reporting whether an additional stimulus appeared on trials. Self-reported trait anxiety levels did not affect performance in the letter search task under any level of load. However, visual detection for the additional stimulus, as measured by d' sensitivity, was positively correlated with levels of anxiety regardless of the perceptual difficulty of the search task. These results suggest that trait vulnerability to anxiety is associated with improved visual detection, providing direct evidence that anxiety may modulate sensory processing. PMID:26214571

  14. Relationship between personality traits and vocational choice.

    PubMed

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

    2009-10-01

    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

  15. Beta measurements at Department of Energy facilities

    SciTech Connect

    Rathbun, L.A.; Swinth, K.L.; Haggard, D.L.

    1987-08-01

    Pacific Northwest Laboratory performed a two-step process to characterize the current beta measurement practices at DOE facilities. PNL issued a survey questionnaire on beta measurement practices to DOE facilities and reported the results. PNL measured beta doses and spectra at seven selected DOE facilities and compared selected measurement techniques in the facility environment. This report documents the results of the radiation field measurements and the comparison of measurement techniques at the seven facilities. Data collected included beta dose and spectral measurements at seven DOE facilities that had high beta-to-gamma ratios (using a silicon surface barrier spectrometer, a plastic scintillator spectrometer, and a multielement beta dosimeter). Other dosimeters and survey meters representative of those used at DOE facilities or under development were also used for comparison. Field spectra were obtained under two distinct conditions. Silicon- and scintillation-based spectrometer systems were used under laboratory conditions where high beta-to-gamma dose ratios made the beta spectra easier to observe and analyze. In the second case, beta spectrometers were taken into actual production and maintenance areas of DOE facilities. Analyses of beta and gamma spectra showed that /sup 234/Th- /sup 234m/Pa, /sup 231/Th, /sup 137/Cs, and /sup 90/Sr//sup 90/Y were the major nuclides contributing to beta doses at the facilities visited. Beta doses from other fission products and /sup 60/Co were also measured, but the potential for exposure was less significant. 21 refs., 64 figs., 18 tabs.

  16. Sequence of PSE-2 beta-lactamase.

    PubMed Central

    Huovinen, P; Huovinen, S; Jacoby, G A

    1988-01-01

    The nucleotide sequence of PSE-2 beta-lactamase, an enzyme that readily hydrolyzes both carbenicillin and oxacillin, has been determined. The deduced sequence of 266 amino acids contained 93 residues identical to those of OXA-2 beta-lactamase and the Ser-Thr-Phe-Lys tetrad also found in the active site of TEM-1 beta-lactamase. PMID:3126705

  17. Inotropes in the beta-blocker era.

    PubMed

    Lowes, B D; Simon, M A; Tsvetkova, T O; Bristow, M R

    2000-03-01

    Beta-adrenergic blocking agents are now standard treatment for mild to moderate chronic heart failure (CHF). However, although many subjects improve on beta blockade, others do not, and some may even deteriorate. Even when subjects improve on beta blockade, they may subsequently decompensate and need acute treatment with a positive inotropic agent. In the presence of full beta blockade, a beta agonist such as dobutamine may have to be administered at very high (> 10 micrograms/kg/min) doses to increase cardiac output, and these doses may increase afterload. In contrast, phosphodiesterase inhibitors (PDEIs) such as milrinone or enoximone retain their full hemodynamic effects in the face of beta blockade. This is because the site of PDEI action is beyond the beta-adrenergic receptor, and because beta blockade reverses receptor pathway desensitization changes, which are detrimental to PDEI response. Moreover, when the combination of a PDEI and a beta-blocking agent is administered long term in CHF, their respective efficacies are additive and their adverse effects subtractive. The PDEI is administered first to increase the tolerability of beta-blocker initiation by counteracting the myocardial depressant effect of adrenergic withdrawal. With this combination, the signature effects of beta blockade (a substantial decrease in heart rate and an increase in left ventricular ejection fraction) are observed, the hemodynamic support conferred by the PDEI appears to be sustained, and clinical results are promising. However, large-scale placebo-controlled studies with PDEIs and beta blockers are needed to confirm these results. PMID:10754776

  18. Diverse genetic mechanisms operate to generate atypical betaS haplotypes in the population of Guadeloupe.

    PubMed

    Romana, M; Kéclard, L; Froger, A; Lavocat, E; Saint-Martin, C; Berchel, C; Mérault, G

    2000-05-01

    In a survey of the chromosomal background associated with the sickle cell gene in Guadeloupe, a French Caribbean island, we identified 37 unrelated patients with sickle cell disease (27 SS, nine SC, and one S-beta-thalassemia) of 477 unrelated sickle cell patients where the beta3 gene was linked to 20 different atypical haplotypes. These atypical chromosomes account for about 5% of the overall betaS chromosomes in this population. To investigate the origin of these atypical betaS haplotypes, we performed extensive typing of betaS and betaA chromosomes. Twenty-two different 5' subhaplotypes were identified among the betaS chromosomes. Fifteen of 20 different atypical haplotypes are likely to be the product of recombination by a single crossover around the 5' to the beta-globin gene, or between a major betaS haplotype and one of the betaS haplotypes present in the population. The remaining cases require genetic mechanisms (gene conversions, additional substitutions in a given haplotype) other than crossovers to generate these atypical haplotypes. PMID:10870878

  19. Polypeptides having beta-glucosidase activity and beta-xylosidase activity and polynucleotides encoding same

    SciTech Connect

    Morant, Marc Dominique

    2014-05-06

    The present invention relates to isolated polypeptides having beta-glucosidase activity, beta-xylosidase activity, or beta-glucosidase and beta-xylosidase activity and isolated polynucleotides encoding the polypeptides. The invention also relates to nucleic acid constructs, vectors, and host cells comprising the polynucleotides as well as methods of producing and using the polypeptides.

  20. Polypeptides having beta-glucosidase activity and beta-xylosidase activity and polynucleotides encoding same

    SciTech Connect

    Morant, Marc Dominique

    2014-04-29

    The present invention relates to isolated polypeptides having beta-glucosidase activity, beta-xylosidase activity, or beta-glucosidase and beta-xylosidase activity and isolated polynucleotides encoding the polypeptides. The invention also relates to nucleic acid constructs, vectors, and host cells comprising the polynucleotides as well as methods of producing and using the polypeptides.

  1. Polypeptides having beta-glucosidase and beta-xylosidase activity and polynucleotides encoding same

    SciTech Connect

    Morant, Marc Dominique

    2014-05-06

    The present invention relates to isolated polypeptides having beta-glucosidase activity, beta-xylosidase activity, or beta-glucosidase and beta-xylosidase activity and isolated polynucleotides encoding the polypeptides. The invention also relates to nucleic acid constructs, vectors, and host cells comprising the polynucleotides as well as methods of producing and using the polypeptides.

  2. Genome Informed Trait-Based Models

    NASA Astrophysics Data System (ADS)

    Karaoz, U.; Cheng, Y.; Bouskill, N.; Tang, J.; Beller, H. R.; Brodie, E.; Riley, W. J.

    2013-12-01

    Trait-based approaches are powerful tools for representing microbial communities across both spatial and temporal scales within ecosystem models. Trait-based models (TBMs) represent the diversity of microbial taxa as stochastic assemblages with a distribution of traits constrained by trade-offs between these traits. Such representation with its built-in stochasticity allows the elucidation of the interactions between the microbes and their environment by reducing the complexity of microbial community diversity into a limited number of functional ';guilds' and letting them emerge across spatio-temporal scales. From the biogeochemical/ecosystem modeling perspective, the emergent properties of the microbial community could be directly translated into predictions of biogeochemical reaction rates and microbial biomass. The accuracy of TBMs depends on the identification of key traits of the microbial community members and on the parameterization of these traits. Current approaches to inform TBM parameterization are empirical (i.e., based on literature surveys). Advances in omic technologies (such as genomics, metagenomics, metatranscriptomics, and metaproteomics) pave the way to better-initialize models that can be constrained in a generic or site-specific fashion. Here we describe the coupling of metagenomic data to the development of a TBM representing the dynamics of metabolic guilds from an organic carbon stimulated groundwater microbial community. Illumina paired-end metagenomic data were collected from the community as it transitioned successively through electron-accepting conditions (nitrate-, sulfate-, and Fe(III)-reducing), and used to inform estimates of growth rates and the distribution of metabolic pathways (i.e., aerobic and anaerobic oxidation, fermentation) across a spatially resolved TBM. We use this model to evaluate the emergence of different metabolisms and predict rates of biogeochemical processes over time. We compare our results to observational outputs.

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

    PubMed

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

    2005-07-01

    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

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

    PubMed

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

    2012-10-01

    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

  5. Evaluation of the chemical quality traits of soybean seeds, as related to sensory attributes of soymilk.

    PubMed

    Ma, Lei; Li, Bin; Han, Fenxia; Yan, Shurong; Wang, Lianzheng; Sun, Junming

    2015-04-15

    The soybean seed chemical quality traits (including protein content, oil content, fatty acid composition, isoflavone content, and protein subunits), soymilk chemical character (soluble solid), and soymilk sensory attributes were evaluated among 70 genotypes to determine the correlation between seed chemical quality traits and soymilk sensory attributes. Six sensory parameters (i.e., soymilk aroma, smoothness in the mouth, thickness in the mouth, sweetness, colour and appearance, and overall acceptability) and a seven-point hedonic scale for each parameter were developed. Significant positive correlations were observed between overall acceptability and the other five evaluation parameters, suggesting that overall acceptability is an ideal parameter for evaluating soymilk flavour. The soymilk sensory attributes were significantly positively correlated with the characteristics of the glycinin (11S)/beta-conglycinin (7S) protein ratio, soluble solid, and oil content but negatively correlated with glycitein and protein content. Our results indicated that soymilk sensory attributes could be improved by selecting the desirable seed chemical quality traits in practical soybean breeding programs. PMID:25466078

  6. Pleiotropy in complex traits: challenges and strategies

    PubMed Central

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

    2014-01-01

    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

  7. The Myth of Sickle Cell Trait

    PubMed Central

    Bristow, Lonnie R.

    1974-01-01

    Recently emphasis in the problem of sickle hemoglobinopathy has been on mass screening of the black population. Concern about the alleged danger in having sickle cell trait itself is offered as part of the justification. This danger is disputed and a position developed for the benign status of sickle cell trait and the potentially serious social harm to blacks so identified. Programs are suggested to foster improved medical care availability and early detection for those with sickle cell anemia. It is suggested that mandatory patient programs be avoided, and that research receive greater emphasis. PMID:4840172

  8. Sickle Cell Trait Causing Splanchnic Venous Thrombosis

    PubMed Central

    Saxena, Priyanka; Dhiman, Pratibha; Bihari, Chhagan; Rastogi, Archana

    2015-01-01

    Sickle cell trait is considered as a benign condition as these individuals carry only one defective gene and typically have their life span similar to the normal population without any health problems related to sickle cell. Only under extreme conditions, red cells become sickled and can cause clinical complications including hematuria and splenic infarction. Although twofold increased risk of venous thrombosis has been described in African Americans, there is no data available from Indian population. We here report a case of sickle cell trait from India whose index presentation was thrombosis of unusual vascular territory. PMID:26221548

  9. Structural Characterization of Zeolite Beta

    NASA Astrophysics Data System (ADS)

    Newsam, J. M.; Treacy, M. M. J.; Koetsier, W. T.; de Gruyter, C. B.

    1988-12-01

    Crystallographic faulting in zeolite structures affects both the catalytic and sorption properties, and can greatly complicate attempts at structural characterization. A near extreme example of stacking disorder is provided by zeolite beta, a large pore, high-silica zeolite that was first reported in 1967. We describe here the determination of the framework structure of zeolite beta, using primarily high-resolution electron microscopy, electron diffraction, computer-assisted modelling and powder X-ray diffraction. Zeolite beta can be regarded as a highly intergrown hybrid of two distinct, but closely related structures that both have fully three-dimensional pore systems with 12-rings as the minimum constricting apertures. One end member, polymorph A, forms an enantiomorphic pair, space group symmetries P4_122 and P4_322, with a = 1.25 nm, c = 2.66 nm. Polymorph B is achiral, space group C2/c with a = 1.76 nm, b = 1.78 nm, c = 1.44 nm, ? = 114.5^circ. Both structures are constructed from the same centrosymmetric tertiary building unit (TBU), arranged in layers that, successively, interconnect in either a left- (L) or a right- (R) handed fashion. Polymorph A represents an uninterrupted sequence of RRRR... (or LLLL...) stacking. Polymorph B has an alternating RLRL... stacking sequence. The TBU has no intrinsic preference for either mode of connection, enabling both to occur with almost equal probability in zeolite beta, giving rise to a near random extent of interplanar stacking faults and, to a lesser extent, intraplanar defects terminated by hydroxyl groups. The faulting does not significantly affect the accessible pore volume, but influences the tortuosity of the pore connectivity along the c direction. The high stacking fault densities give rise to complex powder X-ray diffraction (PXD) patterns for zeolite beta materials that comprise both sharp and broad features. By exploiting recursive relations between possible stacking sequences, PXD patterns have been calculated as a function of faulting probability. Reasonable agreement with observed PXD profiles is observed for a ca. 60% faulting probability in the chiral stacking sequence, suggesting a slight preference for polymorph B. The framework building units observed in zeolite beta can also be used to construct other frameworks.

  10. Variance Component Quantitative Trait Locus Analysis for Body Weight Traits in Purebred Korean Native Chicken.

    PubMed

    Cahyadi, Muhammad; Park, Hee-Bok; Seo, Dong-Won; Jin, Shil; Choi, Nuri; Heo, Kang-Nyeong; Kang, Bo-Seok; Jo, Cheorun; Lee, Jun-Heon

    2016-01-01

    Quantitative trait locus (QTL) is a particular region of the genome containing one or more genes associated with economically important quantitative traits. This study was conducted to identify QTL regions for body weight and growth traits in purebred Korean native chicken (KNC). F1 samples (n = 595) were genotyped using 127 microsatellite markers and 8 single nucleotide polymorphisms that covered 2,616.1 centi Morgan (cM) of map length for 26 autosomal linkage groups. Body weight traits were measured every 2 weeks from hatch to 20 weeks of age. Weight of half carcass was also collected together with growth rate. A multipoint variance component linkage approach was used to identify QTLs for the body weight traits. Two significant QTLs for growth were identified on chicken chromosome 3 (GGA3) for growth 16 to18 weeks (logarithm of the odds [LOD] = 3.24, Nominal p value = 0.0001) and GGA4 for growth 6 to 8 weeks (LOD = 2.88, Nominal p value = 0.0003). Additionally, one significant QTL and three suggestive QTLs were detected for body weight traits in KNC; significant QTL for body weight at 4 weeks (LOD = 2.52, nominal p value = 0.0007) and suggestive QTL for 8 weeks (LOD = 1.96, Nominal p value = 0.0027) were detected on GGA4; QTLs were also detected for two different body weight traits: body weight at 16 weeks on GGA3 and body weight at 18 weeks on GGA19. Additionally, two suggestive QTLs for carcass weight were detected at 0 and 70 cM on GGA19. In conclusion, the current study identified several significant and suggestive QTLs that affect growth related traits in a unique resource pedigree in purebred KNC. This information will contribute to improving the body weight traits in native chicken breeds, especially for the Asian native chicken breeds. PMID:26732327

  11. Two-trait-locus linkage analysis: A powerful strategy for mapping complex genetic traits

    SciTech Connect

    Schork, N.J.; Boehnke, M. ); Terwilliger, J.D.; Ott, J. )

    1993-11-01

    Nearly all diseases mapped to date follow clear Mendelian, single-locus segregation patterns. In contrast, many common familial diseases such as diabetes, psoriasis, several forms of cancer, and schizophrenia are familial and appear to have a genetic component but do not exhibit simple Mendelian transmission. More complex models are required to explain the genetics of these important diseases. In this paper, the authors explore two-trait-locus, two-marker-locus linkage analysis in which two trait loci are mapped simultaneously to separate genetic markers. The authors compare the utility of this approach to standard one-trait-locus, one-marker-locus linkage analysis with and without allowance for heterogeneity. The authors also compare the utility of the two-trait-locus, two-marker-locus analysis to two-trait-locus, one-marker-locus linkage analysis. For common diseases, pedigrees are often bilineal, with disease genes entering via two or more unrelated pedigree members. Since such pedigrees often are avoided in linkage studies, the authors also investigate the relative information content of unilineal and bilineal pedigrees. For the dominant-or-recessive and threshold models that the authors consider, the authors find that two-trait-locus, two-marker-locus linkage analysis can provide substantially more linkage information, as measured by expected maximum lod score, than standard one-trait-locus, one-marker-locus methods, even allowing for heterogeneity, while, for a dominant-or-dominant generating model, one-locus models that allow for heterogeneity extract essentially as much information as the two-trait-locus methods. For these three models, the authors also find that bilineal pedigrees provide sufficient linkage information to warrant their inclusion in such studies. The authors discuss strategies for assessing the significance of the two linkages assumed in two-trait-locus, two-marker-locus models. 37 refs., 1 fig., 4 tabs.

  12. Variance Component Quantitative Trait Locus Analysis for Body Weight Traits in Purebred Korean Native Chicken

    PubMed Central

    Cahyadi, Muhammad; Park, Hee-Bok; Seo, Dong-Won; Jin, Shil; Choi, Nuri; Heo, Kang-Nyeong; Kang, Bo-Seok; Jo, Cheorun; Lee, Jun-Heon

    2016-01-01

    Quantitative trait locus (QTL) is a particular region of the genome containing one or more genes associated with economically important quantitative traits. This study was conducted to identify QTL regions for body weight and growth traits in purebred Korean native chicken (KNC). F1 samples (n = 595) were genotyped using 127 microsatellite markers and 8 single nucleotide polymorphisms that covered 2,616.1 centi Morgan (cM) of map length for 26 autosomal linkage groups. Body weight traits were measured every 2 weeks from hatch to 20 weeks of age. Weight of half carcass was also collected together with growth rate. A multipoint variance component linkage approach was used to identify QTLs for the body weight traits. Two significant QTLs for growth were identified on chicken chromosome 3 (GGA3) for growth 16 to18 weeks (logarithm of the odds [LOD] = 3.24, Nominal p value = 0.0001) and GGA4 for growth 6 to 8 weeks (LOD = 2.88, Nominal p value = 0.0003). Additionally, one significant QTL and three suggestive QTLs were detected for body weight traits in KNC; significant QTL for body weight at 4 weeks (LOD = 2.52, nominal p value = 0.0007) and suggestive QTL for 8 weeks (LOD = 1.96, Nominal p value = 0.0027) were detected on GGA4; QTLs were also detected for two different body weight traits: body weight at 16 weeks on GGA3 and body weight at 18 weeks on GGA19. Additionally, two suggestive QTLs for carcass weight were detected at 0 and 70 cM on GGA19. In conclusion, the current study identified several significant and suggestive QTLs that affect growth related traits in a unique resource pedigree in purebred KNC. This information will contribute to improving the body weight traits in native chicken breeds, especially for the Asian native chicken breeds. PMID:26732327

  13. A transforming growth factor. beta. (TGF-. beta. ) receptor from human placenta exhibits greater affinity for TGF-. beta. 2 than for TGF-. beta. 1

    SciTech Connect

    Mitchell, E.J.; O'Connor-McCourt, M.D. )

    1991-04-30

    Affinity-labeling techniques have been used to identify three types of high-affinity receptors for transforming growth factor {beta} (TGF-{beta}) on the surface of many cells in culture. Here the authors demonstrate that membrane preparations from tissue sources may also be used as an alternative system for studying the binding properties of TGF-{beta} receptors. Using a chemical cross-linking technique with {sup 125}I-TGF-{beta}1 and {sup 125}I-TGF-{beta}2 and bis(sulfosuccinimidyl)suberate (BS{sup 3}), they have identified and characterized two high-affinity binding components in membrane preparations derived from human term placenta. The larger species, which migrates as a diffuse band of molecular mass 250-350 kDa on sodium dodecyl sulfate-polyacrylamide electrophoresis gels, is characteristic of the TGF-{beta} receptor type III, a proteoglycan containing glycosaminoglycan (GAG) chains of chondroitin and heparan sulfate. The smaller species of molecular mass 140 kDa was identified as the core glycoprotein of this type III receptor by using the techniques of enzymatic deglycosylation and peptide mapping. Competition experiments, using {sup 125}I-TGF-{beta}1 or {sup 125}I-TGF-{beta}2 and varying amounts of competing unlabeled TGF-{beta}1 or TGF-{beta}2, revealed that both the placental type III proteoglycan and its core glycoprotein belong to a novel class of type III receptors that exhibit a greater affinity for TGF-{beta}2 than for TGF-{beta}1. This preferential binding of TGF-{beta}2 to placental type III receptors suggests differential roles for TGF-{beta}2 and TGF-{beta} 1 in placental function.

  14. Transcription factors regulating beta-cell function.

    PubMed

    Cerf, Marlon E

    2006-11-01

    Type 2 diabetes is primarily associated with insulin resistance and beta-cell dysfunction. Maintenance of functional mature beta-cells is imperative for ensuring glucose homeostasis. This can be achieved by optimal expression of key transcription factors that are required for normal pancreatic development and maintaining beta-cell function. Defining the regulation of transcription factors as well as their regulation of important beta-cell genes like insulin will provide further insight into elucidating the mechanisms leading to beta-cell dysfunction. PMID:17062882

  15. Engineered topographic determinants with alpha beta, beta alpha beta, and beta alpha beta alpha topologies show high affinity binding to native protein antigen (lactate dehydrogenase-C4).

    PubMed

    Kobs-Conrad, S; Lee, H; DiGeorge, A M; Kaumaya, P T

    1993-12-01

    The use of peptides has attracted much interest in the development of synthetic vaccines. Although our current understanding of peptide antigens as immunogens has been greatly advanced recently, there still remain many obstacles. The B cell response elicited by a peptide antigen is governed by a number of poorly understood events such as epitope structure, T cell dependency and major histocompatibility complex restriction, adjuvancy, route of immunization, and immunogen stability. In this paper, we extend our previous studies on the problem of the topographical nature of antigenic sites on native protein antigens, in terms of how much molecular mimicry must be maintained in an antigenic determinant for the induction of high affinity antibodies specific for native protein. We show here that an antigenic epitope from the model contraceptive vaccine candidate lactate dehydrogenase (LDH-C4) can be rationally engineered into a highly structured conformation that mimics the corresponding site in the native three-dimensional protein. Our strategy is based on the selection of an antigenic segment which exhibits certain secondary structural properties and by design principles is fixed in three dimensions by appropriate grafting onto a supersecondary structural motif such as alpha beta, beta alpha beta, or beta alpha beta alpha. The biophysical data are consistent with the proposed secondary structures, and antibodies raised to the various construct show high affinity for the native protein. These studies lend further credence to the conformational nature of peptide epitopes and provide a basis for the rational design of peptide vaccines. PMID:8244959

  16. Quantitative autoradiography of. beta. /sub 1/- and. beta. /sub 2/-adrenergic receptors in rat brain

    SciTech Connect

    Rainbow, T.C.; Parsons, B.; Wolfe, B.B.

    1984-03-01

    The authors used quantitative autoradiography to localize in rat brain ..beta../sub 1/- and ..beta../sub 2/-adrenergic receptors. These receptors were labeled in vitro with /sup 125/I-labeled pindolol, an antagonist of ..beta..-adrenergic receptors that binds nonselectively to both ..beta../sub 1/ and ..beta../sub 2/ subtypes. The selective inhibition of /sup 125/I-labeled pindolol binding with specific antagonists of ..beta../sub 1/ and ..beta../sub 2/ receptors allowed the visualization of ..beta..-adrenergic receptor subtypes. High levels of ..beta../sub 1/ receptors were observed in the cingulate cortex, layers I and II of the cerebral cortex, the hippocampus, the Islands of Calleja, and the gelatinosus, mediodorsal, and ventral nuclei of the thalamus. High levels of ..beta../sub 2/ receptors were found in the molecular layer of the cerebellum, over pia mater, and in the central, paraventricular, and caudal lateral posterior thalamic nuclei. Approximately equal levels of ..beta../sub 1/ and ..beta../sub 2/ receptors occurred in the substantia nigra, the olfactory tubercle, layer IV of the cerebral cortex, the medial preoptic nucleus, and all nuclei of the medulla. The pronounced differences in the ratio of ..beta../sub 1/ to ..beta../sub 2/ receptors among brain regions suggests that the subtypes of ..beta..-adrenergic receptors may play different roles in neuronal function. 38 references, 3 figures, 1 table.

  17. Bioavailability of beta-carotene (betaC) from purple carrots is the same as typical orange carrots while high-betaC carrots increase betaC stores in Mongolian gerbils (Meriones unguiculatus)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Vitamin A (VA) deficiency is a worldwide public health problem. Biofortifying existing sources of beta-carotene (betaC) and increasing dietary betaC could help combat the issue. Two studies were performed to investigate the relative betaC bioavailability of a betaC supplement to purple, high-betaC o...

  18. [Biotechnological production of acetylated thymosin beta4].

    PubMed

    Be?rakhova, K A; Stepanenko, V N; Miroshnikov, A I; Esipov, R S

    2011-01-01

    Thymosin beta4 (43 aa) is a highly conserved acidic peptide which regulates actin polymerization in mammalian cells by sequestering globular actin. Thymosin beta4 is undergoing clinical trials as a drug for the treatment of venous stasis ulcers, corneal wounds and injuries, as well as acute myocardial infarction. Currently, thymosin beta4 is produced with solid-phase chemical synthesis. Biotechnological synthesis of this peptide presents difficulties because N-terminal amino acid residue of thymosin beta4 is acetylated. In this study we propose a method for producing the recombinant precursor of thymosin beta4 and its subsequent targeted chemical acetylation. Desacetylthymosin beta4 was synthesized as a part of a hybrid protein with thioredoxin and a specific TEV (tobacco etch virus) protease cleavage site. The following scheme was developed for the purification of desacetylthymosin beta4: (i) the biosynthesis of a soluble hybrid protein (HP) in Escherichia coli; (ii) isolation of the HP by ion exchange chromatography; (iii) cleavage of the HP with TEVprotease; (iv) purification of desacetylthymosin beta4 by ultra-filtration. N-terminal acetylation of desacetylthymosin beta4 was performed with acetic anhydride under acidic conditions (pH 3). The reaction yield was 55%. Thymosin beta4 was then purified by reverse-phase high performance liquid chromatography. The proposed synthetic approach to recombinant thymosin beta4 is suitable for scale-up and can provide for the medical use of highly purified preparation with a yield of 20 mg from 1 L of culture. PMID:21721255

  19. Molecular basis for amyloid-[beta] polymorphism

    SciTech Connect

    Colletier, Jacques-Philippe; Laganowsky, Arthur; Landau, Meytal; Zhao, Minglei; Soriaga, Angela B.; Goldschmidt, Lukasz; Flot, David; Cascio, Duilio; Sawaya, Michael R.; Eisenberga, David

    2011-10-19

    Amyloid-beta (A{beta}) aggregates are the main constituent of senile plaques, the histological hallmark of Alzheimer's disease. A{beta} molecules form {beta}-sheet containing structures that assemble into a variety of polymorphic oligomers, protofibers, and fibers that exhibit a range of lifetimes and cellular toxicities. This polymorphic nature of A{beta} has frustrated its biophysical characterization, its structural determination, and our understanding of its pathological mechanism. To elucidate A{beta} polymorphism in atomic detail, we determined eight new microcrystal structures of fiber-forming segments of A{beta}. These structures, all of short, self-complementing pairs of {beta}-sheets termed steric zippers, reveal a variety of modes of self-association of A{beta}. Combining these atomic structures with previous NMR studies allows us to propose several fiber models, offering molecular models for some of the repertoire of polydisperse structures accessible to A{beta}. These structures and molecular models contribute fundamental information for understanding A{beta} polymorphic nature and pathogenesis.

  20. Beta Decay and Rhenium Cosmochronology

    NASA Astrophysics Data System (ADS)

    Ashktorab, Karim

    Among the problems which limit the use of the ^{187}Re/^ {187}Os isobaric pair as a cosmochronometer for the age of the galaxy and the universe are the uncertainties in the partial half-lives of the continuum and bound state decays of ^{187}Re. While the total half-life of the decay is well established, the partial half-life for the continuum decay is uncertain, and several measurements are not compatible. A high temperature quartz proportional counter was used in this work to remeasure the continuum beta^- decay of ^{187 }Re. The beta end-point energy for the decay of neutral ^{187 }Re to singly ionized ^{187 }Os of 2.75 +/- 0.06 keV agrees with the earlier results. The corresponding half -life of (45 +/- 3) times 10^9 years improves and agrees with the earlier measurement of Payne and Drever and refutes other measurements. Based on the new half -life for the continuum decay and a total half-life of (43.5 +/- 1.3) times 10^9 years reported by Linder et al., the branching ratio for the bound state decay into discrete atomic states is estimated to be (3 +/- 6)% in agreement with the most recent calculated theoretical branching ratio of approximately 1%. Anomalies in beta spectra reported by J. J. Simpson and others have been attributed to a 17 keV heavy-neutrino admixture. If confirmed, the implications from the existence of such a neutrino for particle and astrophysics would be significant. A multiwire "wall-less" stainless steel proportional counter has been used in the present work to investigate the spectral shape of the beta decay of ^{63}Ni. No anomalies in the spectral shape were observed which could be attributed to the presence of 17 keV heavy neutrino.

  1. Associations of a polymorphic AP-2 binding site in the 5'-flanking region of the bovine beta-lactoglobulin gene with milk proteins.

    PubMed

    Kuss, A W; Gogol, J; Geidermann, H

    2003-06-01

    Studies on a polymorphic position (R10) in an Activator-Protein-2 (AP-2) binding site of the bovine beta-Lactoglobulin (beta-Lg) gene promoter region and quantitative traits of individual milk proteins were based on material from 79 German Holstein Friesian (HF) and 61 Simmental (Sm) cows. At least four milk samples per cow were analyzed with alkaline Urea-PAGE in combination with densitometry for quantification of individual milk proteins. The two alleles of the R10 single nucleotide polymorphism (SNP) carry either G or C in position -435 bp of the beta-Lg promoter region. G- and C-alleles were found in Sm with nearly equal frequencies, while in HF the C-allele frequency was higher (0.73) than that of the G-allele. In both breeds, the R10 G-homozygotes had higher (P < 0.001) amounts of beta-Lg secreted per day and proportion of beta-Lg in milk protein compared with the C-homozygotes. A similar association was found for alpha-lactalbumin, whereas the relative proportions and daily secreted amounts of caseins (alphaS1, beta, kappa) showed lower values in beta-Lg R10 G-homozygotes. A positive association (P < 0.001) of R10 CC with milk yield has also been observed and indicates a close proximity of the beta-Lg locus to a candidate gene for this trait. The association between the SNP in the AP-2 binding site of the beta-Lg gene and its gene product can be explained as the result of differences in protein binding activity, and, therefore, allele specific differences in gene expression. Thus, our study clearly links a DNA polymorphism of molecular function very closely with in vivo expression parameters of the same locus. PMID:12836958

  2. Beta adrenergic receptors in pigmented ciliary processes.

    PubMed Central

    Trope, G E; Clark, B

    1982-01-01

    Beta adrenergic receptors from membrane fragments of pigmented sheep eyes were studied and characterised by ligand binding techniques after the removal of melanin. In a representative experiment the beta max (total number of beta receptors) was 394.9 fmol/mg protein. The receptor affinity (Ka) was 440 pM. The potency series of drugs to displace 125I-HYP from the receptors was timolol = (-) propranolol greater than (+) propranolol greater than salbutamol greater than practolol. beta 1 Receptors were not detected in the ciliary processes. beta 2 Receptors were the prominent adrenergic receptors present. The theory as to how beta blockers work in glaucoma, their site of action, and the potential role of beta 2 blockers for use in intraocular pressure control is discussed. PMID:6293532

  3. New trait data at MaizeGDB

    Technology Transfer Automated Retrieval System (TEKTRAN)

    MaizeGDB has several ways to archive trait data used for QTL and GWAS analyses. The simplest is simple posting of files provided by researchers along with links to the publication. More recently we have begun to integrate these data for diversity recombinant germplasm, and association panels. The go...

  4. Trait Ratings for Automated Essay Grading.

    ERIC Educational Resources Information Center

    Shermis, Mark D.; Koch, Chantal Mees; Page, Ellis B.; Keith, Timothy Z.; Harrington, Susanmarie

    This study used Project Essay Grade (PEG) to evaluate essays both holistically and with the rating of traits (content, organization, style, mechanics, and creativity) for Web-based student essays that serve as placement tests at a large Midwestern university. In addition, the use of a TopicScore, or measure of topic content for each assignment,

  5. Advances in Phenotyping of Functional Traits

    Technology Transfer Automated Retrieval System (TEKTRAN)

    In plants, functional traits are morphological, biochemical, physiological, structural, phenological, or behavioral characteristics that are expressed in phenotypes of individual plants,that are relevant to the plants role in the ecosystem or its agronomic performance. By themselves, functional tra...

  6. JOINT ANALYSIS OF HEALTH AND PRODUCTION TRAITS

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The objective of the study was to investigate the relationship between health and production traits in chickens. The data were obtained from a closed, fully pedigreed, commercial broiler line. Records included measurements of body weight (BW), residual feed intake (RFI), percent breast meat (PBM),...

  7. Estimating Trait Heritability in Highly Fecund Species

    PubMed Central

    Davies, Sarah W.; Scarpino, Samuel V.; Pongwarin, Thanapat; Scott, James; Matz, Mikhail V.

    2015-01-01

    Increasingly, researchers are interested in estimating the heritability of traits for nonmodel organisms. However, estimating the heritability of these traits presents both experimental and statistical challenges, which typically arise from logistical difficulties associated with rearing large numbers of families independently in the field, a lack of known pedigree, the need to account for group or batch effects, etc. Here we develop both an empirical and computational methodology for estimating the narrow-sense heritability of traits for highly fecund species. Our experimental approach controls for undesirable culturing effects while minimizing culture numbers, increasing feasibility in the field. Our statistical approach accounts for known issues with model-selection by using a permutation test to calculate significance values and includes both fitting and power calculation methods. We further demonstrate that even with moderately high sample-sizes, the p-values derived from asymptotic properties of the likelihood ratio test are overly conservative, thus reducing statistical power. We illustrate our methodology by estimating the narrow-sense heritability for larval settlement, a key life-history trait, in the reef-building coral Orbicella faveolata. The experimental, statistical, and computational methods, along with all of the data from this study, are available in the R package multiDimBio. PMID:26438295

  8. QUANTITATIVE TRAIT LOCI FOR INFECTIOUS BOVINE KERATOCONJUNCTIVITIS

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Infectious bovine keratoconjunctivitis, also known as pinkeye, is an economically important disease in cattle. The objective of this study was to detect quantitative trait loci associated with infectious bovine keratoconjunctivitis in offspring from a Brahman x Hereford sire. The sire was mated to H...

  9. Transmission-disequilibrium tests for quantitative traits

    SciTech Connect

    Allison, D.B.

    1997-03-01

    The transmission-disequilibrium test (TDT) of Spielman et al. is a family-based linkage-disequilibrium test that offers a powerful way to test for linkage between alleles and phenotypes that is either causal (i.e., the marker locus is the disease/trait allele) or due to linkage disequilibrium. The TDT is equivalent to a randomized experiment and, therefore, is resistant to confounding. When the marker is extremely close to the disease locus or is the disease locus itself, tests such as the TDT can be far more powerful than conventional linkage tests. To date, the TDT and most other family-based association tests have been applied only to dichotomous traits. This paper develops five TDT-type tests for use with quantitative traits. These tests accommodate either unselected sampling or sampling based on selection of phenotypically extreme offspring. Power calculations are provided and show that, when a candidate gene is available (1) these TDT-type tests are at least an order of magnitude more efficient than two common sib-pair tests of linkage; (2) extreme sampling results in substantial increases in power; and (3) if the most extreme 20% of the phenotypic distribution is selectively sampled, across a wide variety of plausible genetic models, quantitative-trait loci explaining as little as 5% of the phenotypic variation can be detected at the .0001 a level with <300 observations. 57 refs., 2 figs., 5 tabs.

  10. Quantitative trait loci and metabolic pathways

    PubMed Central

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

    1998-01-01

    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. PMID:9482823

  11. Biodiversity: Predictive traits to the rescue

    NASA Astrophysics Data System (ADS)

    Guisan, Antoine

    2014-03-01

    Climate change poses new challenges to the conservation of species, which at present requires data-hungry models to meaningfully anticipate future threats. Now a study suggests that species traits may offer a simpler way to help predict future extinction risks.

  12. The Economics and Psychology of Personality Traits

    ERIC Educational Resources Information Center

    Borghans, Lex; Duckworth, Angela Lee; Heckman, James J.; ter Weel, Bas

    2008-01-01

    This paper explores the interface between personality psychology and economics. We examine the predictive power of personality and the stability of personality traits over the life cycle. We develop simple analytical frameworks for interpreting the evidence in personality psychology and suggest promising avenues for future research. The paper…

  13. Genetics of complex traits in psychiatry

    PubMed Central

    Gelernter, Joel

    2014-01-01

    Virtually all psychiatric traits are genetically complex. This article discusses the genetics of complex traits in psychiatry. The complexity is accounted for by numerous factors, including multiple risk alleles, epistasis, and epigenetic effects, such as methylation. Risk alleles can individually be common or rare, and can include, for example, single nucleotide polymorphisms (SNPs) and copy number variants (CNV) that are transmitted or are new mutations, and other kinds of variation. Many different kinds of variation can be important for trait risk, either together in various proportions, or as different factors in different subjects. Until recently, our approaches to complex traits were limited, and consequently only a small number of variants, usually of individually minor effect, were identified. Currently, we have a much richer armamentarium that includes the routine application of genomewide association studies (GWAS) and next-generation high throughput sequencing (NextGen); and the combination of this information with other biologically relevant information, such as expression data. We have also seen the emergence of large meta-analysis and mega-analysis consortia. These developments are extremely important for psychiatric genetics, have moved the field forward substantially, and promise formidable gains in the years to come as they are applied more widely. PMID:25444161

  14. The Computerized Inventory of Developmental Writing Traits.

    ERIC Educational Resources Information Center

    McCurry, Niki

    The Computerized Inventory of Developmental Writing Traits (CIDWT) is meant to provide a valid reliable measure of program improvement, particularly for teachers implementing a process writing approach in their classrooms. While standardized tests, portfolio, and holistic scoring all have something to offer, the CIDWT is an inexpensive direct…

  15. Flexible Emotional Responsiveness in Trait Resilience

    PubMed Central

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

    2011-01-01

    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

  16. Dependency Traits Among Parents of Drug Abusers

    ERIC Educational Resources Information Center

    Tennant, Forest S., Jr.

    1976-01-01

    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,

  17. Sickle Cell Trait and Scholastic Achievement

    ERIC Educational Resources Information Center

    Jackson, Yvonne; Ayrer, James

    1974-01-01

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

  18. Biotechnological interventions to improve plant developmental traits

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Developmental traits are coordinated at various levels in a plant and involve organ to organ communications via long distance signaling processes that integrate transcription, hormonal action and environmental cues. Thus, plant architecture, root-soil-microbe interactions, flowering, fruit (and seed...

  19. Phylogenetics Exercise Using Inherited Human Traits

    ERIC Educational Resources Information Center

    Tuimala, Jarno

    2006-01-01

    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…

  20. Phylogenetics Exercise Using Inherited Human Traits

    ERIC Educational Resources Information Center

    Tuimala, Jarno

    2006-01-01

    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

  1. Dependency Traits Among Parents of Drug Abusers

    ERIC Educational Resources Information Center

    Tennant, Forest S., Jr.

    1976-01-01

    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,…

  2. Some Personality Traits of Superior University Students.

    ERIC Educational Resources Information Center

    Kodman, Frank

    1984-01-01

    Surveyed 100 gifted college students matched on race, age, sex, and education with control subjects. High achievers differed statistically from controls on several subscales of the Minnesota Multiphasic Personality Inventory. Results suggest that certain personality traits (not necessarily desirable or healthy ones) are associated with high

  3. 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...

  4. Birth Order Positions and Personality Traits.

    ERIC Educational Resources Information Center

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

    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…

  5. Mammalian. beta. /sub 1/- and. beta. /sub 2/-adrenergic receptors: immunological and structural comparison

    SciTech Connect

    Moxham, C.P.; George, S.T.; Graziano, M.P.; Brandwein, H.J.; Malbon, C.C.

    1986-11-05

    ..beta../sub 1/- and ..beta../sub 2/-adrenergic receptors, pharmacologically distinct proteins, have been reported to be structurally dissimilar. In the present study three techniques were employed to compare the nature of mammalian ..beta../sub 1/- and ..beta../sub 2/-adrenergic receptors. Antibodies against each of the receptor subtypes were raised separately. Polyclonal antisera against ..beta../sub 1/-receptors of rat fat cells were raised in mice, and antisera against ..beta../sub 2/-receptors of guinea pig lung were raised in rabbits. Receptors purified from rat fat cells (..beta../sub 1/-), S49 mouse lymphoma cells (..beta../sub 2/-), and rat liver (..beta../sub 2/-) were probed with these antisera. Each anti-receptor antisera demonstrated the ability to immunoprecipitate purified receptors of both ..beta../sub 1/- and ..beta../sub 2/-subtypes. The mobility of ..beta..-receptors subjected to polyacrylamide gel electrophoresis was probed using antireceptor antibodies and nitrocellulose blots of the gels. Fat cell ..beta../sub 1/-adrenergic receptors display M/sub r/ = 67,000 under reducing conditions and M/sub r/ = 54,000 under nonreducing conditions, as previously reported. Both ..beta../sub 1/- and ..beta../sub 2/-receptors displayed this same shift in electrophoretic mobility observed in the presence as compared to the absence of disulfide bridge-reducing agents, as detected both by autoradiography of the radiolabeled receptors and by immunoblotting of native receptors. Finally, isoelectric focusing of purified radioiodinated ..beta../sub 1/- and ..beta../sub 2/-adrenergic receptors revealed identical isoelectric points. These data are the first to provide analyses of immunological, structural, and biochemical features of ..beta../sub 1/- and ..beta../sub 2/-subtypes in tandem and underscore the structural similarities that exist between these pharmacologically distinct receptors.

  6. Respective degree of expression of beta 1-, beta 2- and beta 3-adrenoceptors in human brown and white adipose tissues.

    PubMed Central

    Deng, C.; Paoloni-Giacobino, A.; Kuehne, F.; Boss, O.; Revelli, J. P.; Moinat, M.; Cawthorne, M. A.; Muzzin, P.; Giacobino, J. P.

    1996-01-01

    1. The possible existence of a beta 3-adrenoceptor in human brown and white adipose tissues was investigated by mRNA expression and binding studies. 2. The relative amounts of beta 1-, beta 2- and beta 3-adrenoceptor mRNA, as determined by total RNA Northern blot analysis in newborn brown adipose tissue, were 28, 63 and 9% respectively of the total beta-adrenoceptor mRNA. 3. The beta 1/beta 2-adrenoceptors of human brown adipose tissue plasma membranes were characterized using [3H]-CGP 12177 as a ligand. Their Kd and Bmax values were 1.9 nM and 156 fmol mg-1 of membrane proteins, respectively. The beta 3-adrenoceptor was characterized by use of the new specific radioligand [3H]-SB 206606. The binding of this ligand was stereospecifically displaced by the active R,R- or the inactive S,S-enantiomer of BRL 37344 up to a concentration of about 10 microM. The Kd and Bmax values of the brown adipose tissue membrane beta 3-adrenoceptors were 87 nM and 167 fmol mg-1 of proteins, respectively. A low affinity [3H]-CGP 12177 binding site population was also detected in these membranes. 4. In human omental white adipose tissue, no beta 3-adrenoceptor mRNA could be detected in total RNA Northern blots and the beta 1-and beta 2-adrenoceptor mRNAs represented 9 and 91%, respectively of the total beta-adrenoceptor mRNA, and no specific binding of [3H]-SB 206606 could be measured. Images Figure 1 PMID:8799564

  7. 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...

  8. Political attitudes develop independently of personality traits.

    PubMed

    Hatemi, Peter K; Verhulst, Brad

    2015-01-01

    The primary assumption within the recent personality and political orientations literature is that personality traits cause people to develop political attitudes. In contrast, research relying on traditional psychological and developmental theories suggests the relationship between most personality dimensions and political orientations are either not significant or weak. Research from behavioral genetics suggests the covariance between personality and political preferences is not causal, but due to a common, latent genetic factor that mutually influences both. The contradictory assumptions and findings from these research streams have yet to be resolved. This is in part due to the reliance on cross-sectional data and the lack of longitudinal genetically informative data. Here, using two independent longitudinal genetically informative samples, we examine the joint development of personality traits and attitude dimensions to explore the underlying causal mechanisms that drive the relationship between these features and provide a first step in resolving the causal question. We find change in personality over a ten-year period does not predict change in political attitudes, which does not support a causal relationship between personality traits and political attitudes as is frequently assumed. Rather, political attitudes are often more stable than the key personality traits assumed to be predicting them. Finally, the results from our genetic models find that no additional variance is accounted for by the causal pathway from personality traits to political attitudes. Our findings remain consistent with the original construction of the five-factor model of personality and developmental theories on attitude formation, but challenge recent work in this area. PMID:25734580

  9. Political Attitudes Develop Independently of Personality Traits

    PubMed Central

    Hatemi, Peter K.; Verhulst, Brad

    2015-01-01

    The primary assumption within the recent personality and political orientations literature is that personality traits cause people to develop political attitudes. In contrast, research relying on traditional psychological and developmental theories suggests the relationship between most personality dimensions and political orientations are either not significant or weak. Research from behavioral genetics suggests the covariance between personality and political preferences is not causal, but due to a common, latent genetic factor that mutually influences both. The contradictory assumptions and findings from these research streams have yet to be resolved. This is in part due to the reliance on cross-sectional data and the lack of longitudinal genetically informative data. Here, using two independent longitudinal genetically informative samples, we examine the joint development of personality traits and attitude dimensions to explore the underlying causal mechanisms that drive the relationship between these features and provide a first step in resolving the causal question. We find change in personality over a ten-year period does not predict change in political attitudes, which does not support a causal relationship between personality traits and political attitudes as is frequently assumed. Rather, political attitudes are often more stable than the key personality traits assumed to be predicting them. Finally, the results from our genetic models find that no additional variance is accounted for by the causal pathway from personality traits to political attitudes. Our findings remain consistent with the original construction of the five-factor model of personality and developmental theories on attitude formation, but challenge recent work in this area. PMID:25734580

  10. Comparison of single-trait to multi-trait national evaluations for yield, health, and fertility.

    PubMed

    VanRaden, P M; Tooker, M E; Wright, J R; Sun, C; Hutchison, J L

    2014-12-01

    Flexible software was designed to replace the current animal model programs used for national genetic evaluations. Model improvements included (1) multi-trait processing, (2) multiple fixed class and regression variables, (3) differing models for different traits, (4) random regressions, and (5) foreign data included using pseudo-records. Computational improvements included (6) parallel processing, (7) renumbering class variables to equation numbers within the program so that estimated effects are output with original identification numbers, and (8) reliability computed within the same program. When applied to 3 fertility traits of 27,971,895 cows and heifers, the new model used daughter pregnancy rate as a correlated trait to improve heifer and cow conception rate evaluations for older animals and in herd-years where records are missing, and also added information from crossbreds. When applied to 7 traits and 76,846,327 lactation records of 30,064,300 cows, gains in accuracy were small for yield and somatic cell score, moderate for daughter pregnancy rate, and larger for productive life for recent bulls compared with single-trait evaluations. For very old bulls, multi-trait gains were also large for protein because lactation records were available only for milk and fat. Multi-trait productive life was computed with exact rather than approximate methods; however, correlated information from conformation was excluded, reducing advantages of the new model over the previous software. Estimates of breed differences, inbreeding depression, and heterosis were similar to previous estimates; new estimates were obtained for conception rates. Predictions were compared by truncating 4 yr of data, and genetic trend validation was applied to all breed-trait combinations. The estimates of trend account for increases in inbreeding across time. Incorporation of foreign data gave correlations above 0.98 for new with previous evaluations of foreign Holstein bulls, but lower for other breeds. The 7-trait model required 35 GB of memory and 3 d to converge using 7 processors. The new software was implemented for fertility traits in 2013 and is scheduled for implementation with yield, somatic cell score, and productive life in 2014. Further revision of the models and software may be needed in the near future to account for genomic preselection. PMID:25282421

  11. Mapping quantitative trait loci for binary trait in the F2:3 design.

    PubMed

    Zhu, Chengsong; Zhang, Yuan-Ming; Guo, Zhigang

    2008-12-01

    In the analysis of inheritance of quantitative traits with low heritability, an F(2:3) design that genotypes plants in F(2) and phenotypes plants in F(2:3) progeny is often used in plant genetics. Although statistical approaches for mapping quantitative trait loci (QTL) in the F(2:3) design have been well developed, those for binary traits of biological interest and economic importance are seldom addressed. In this study, an attempt was made to map binary trait loci (BTL) in the F(2:3) design. The fundamental idea was: the F(2) plants were genotyped, all phenotypic values of each F(2:3) progeny were measured for binary trait, and these binary trait values and the marker genotype informations were used to detect BTL under the penetrance and liability models. The proposed method was verified by a series of Monte-Carlo simulation experiments. These results showed that maximum likelihood approaches under the penetrance and liability models provide accurate estimates for the effects and the locations of BTL with high statistical power, even under of low heritability. Moreover, the penetrance model is as efficient as the liability model, and the F(2:3) design is more efficient than classical F(2) design, even though only a single progeny is collected from each F(2:3) family. With the maximum likelihood approaches under the penetrance and the liability models developed in this study, we can map binary traits as we can do for quantitative trait in the F(2:3) design. PMID:19147904

  12. Cleavage of beta,beta-carotene to flavor compounds by fungi.

    PubMed

    Zorn, H; Langhoff, S; Scheibner, M; Berger, R G

    2003-09-01

    More than 50 filamentous fungi and yeasts, known for de novo synthesis or biotransformation of mono-, sesqui-, tri-, or tetraterpenes, were screened for their ability to cleave beta,beta-carotene to flavor compounds. Ten strains discolored a beta,beta-carotene-containing growth agar, indicating efficient degradation of beta,beta-carotene. Dihydroactinidiolide was formed as the sole conversion product of beta,beta-carotene in submerged cultures of Ganoderma applanatum, Hypomyces odoratus, Kuehneromyces mutabilis, and Trametes suaveolens. When mycelium-free culture supernatants from five species were applied for the conversions, nearly complete degradation of beta,beta-carotene was observed after 12 h. Carotenoid-derived volatile products were detected in the media of Ischnoderma benzoinum, Marasmius scorodonius, and Trametes versicolor. beta-Ionone proved to be the main metabolite in each case, whereas beta-cyclocitral, dihydroactinidiolide, and 2-hydroxy-2,6,6-trimethylcyclohexanone were formed in minor quantities. Using a photometric bleaching test, the beta,beta-carotene cleaving enzyme activities of M. scorodonius were partially characterized. PMID:12719936

  13. TGF-{beta} modulates {beta}-Catenin stability and signaling in mesenchymal proliferations

    SciTech Connect

    Amini Nik, Saeid; Ebrahim, Rasoul Pour; Dam, Kim van; Cassiman, Jean-Jacques; Tejpar, Sabine . E-mail: sabine.tejpar@med.kuleuven.be

    2007-08-01

    Here for the first time we showed, despite the oncogenic mutations in {beta}-Catenin, that TGF-{beta} is a modulator of {beta}-Catenin levels in tumoral fibroblasts as well as non-tumoral fibroblasts. The results show that the TGF-{beta} pathway is active in desmoids cells and in in situ tumors. A dose dependent increase in {beta}-Catenin protein levels was observed after TGF-{beta} treatment in combination with an increased repression of GSK-3{beta} both in normal and tumoral fibroblasts. TGF-{beta} stimulation also led to an altered - up to 5 fold - transcriptional activity of {beta}-Catenin responsive promoters, such as IGFBP6 as well as increase of TOPflash activity. TGF-{beta} stimulation increased cell proliferation and BrdU incorporation 2.5 times. Taken together, we propose that TGF-{beta} is a modulator of {beta}-Catenin levels in tumoral fibroblasts and non-tumoral fibroblasts, despite the oncogenic mutations already present in this gene in tumoral fibroblasts of desmoid tumors. This modulation of {beta}-Catenin levels by TGF-{beta} may be involved in determining the tumoral phenotype of the cells.

  14. Stereo and enantioselective degradation of beta-Cypermethrin and beta-Cyfluthrin in soil.

    PubMed

    Li, Z Y; Zhang, Z C; Zhang, L; Leng, L

    2008-04-01

    beta-Cypermethrin (beta-CP) and beta-Cyfluthrin (beta-CF) are two important pyrethroid insecticides and both consist of two enantiomeric pairs (diastereomers), i.e. four enantiomers. In this study, the stereo and enantioselective degradation of beta-CP and beta-CF in a Tianjin alkaline soil was studied in details by a combination of achiral and chiral HPLC. The results showed that for the two pyrethroids, the transdiastereomer was degraded faster than the corresponding cis-diastereomer. beta-CP and beta-CF were found to be configurationally unstable in this soil, since isomerization between diastereomers was observed during the degradation process. Further enantioselective analysis showed that significant enantioselectivity occurred during the 30 days incubation time. The enantiomeric ratio (ER) values of cis- and transdiastereomers changed from initial approximately 1.00 to final 0.79 and 0.55 for beta-CP, and to 0.64 and 0.48 for beta-CF, respectively. At last, it was found that beta-CF was degraded at relatively faster degradation rate and higher enantioselectivity than beta-CP. Findings from this study may be used to better understand the chiral profiles of beta-CP and beta-CF as well as relevant pyrethroid analogues in environment. PMID:18311530

  15. Changes in stomatal traits and the covariation with other leaf traits along an altitude transect

    NASA Astrophysics Data System (ADS)

    Wang, Ruili; Yu, Guirui; He, Nianpeng; Ge, Jianping; Wang, Qiufeng; Zhao, Ning; Xu, Zhiwei

    2014-05-01

    Stomatal traits and their responses to the external environment have been intensively studied for individual plant species. However, little is known about general stomatal patterns along environmental gradients in a broad, interspecific context or about the relationship between stomatal traits and other leaf traits. Here, we measured the stomatal and leaf traits, including stomatal density (SD), stomatal length (SL), specific leaf area (SLA), leaf area (LA), leaf thickness (LT) and nitrogen concentration (mass- and area- base, Nmass and Narea) of 158 plant species along an altitudinal gradient on Changbai Mountain, China. Our results revealed that SD decreased and SL increased significantly with altitude for tree species, although no clear elevational trends were observed in SD and SL across species (including tree, shrub, and herbaceous plants). Plant growth forms (PGFs) were the most important driver of variation in SD and SL, and the contributions of the mean annual temperature, precipitation and soil water content were weak. In addition, a covarying relationship between stomatal and other leaf traits was observed, although this relationship changed with elevation. These findings reflect that the adaptive strategies of plant ecophysiological traits may be complex for alpine environmental gradients, combining the short-term plasticity to environmental changes and long-term convergent evolution.

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

    PubMed Central

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

    2012-01-01

    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. PMID:25568040

  17. An Investigation of Personality Traits in Relation to Career Satisfaction.

    ERIC Educational Resources Information Center

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

    2003-01-01

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

  18. Short-Term Stability of Psychopathic Traits in Adolescent Offenders

    ERIC Educational Resources Information Center

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

    2009-01-01

    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

  19. Root traits contributing to plant productivity under drought

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Geneticists and breeders are poised to breed plants with root traits that improve productivity under drought. However, they need a better understanding of root functional traits and how these traits are related to whole plant strategies to increase crop productivity under different drought conditio...

  20. Trait Ambiguity and Controllability in Evaluations of Self and Others.

    ERIC Educational Resources Information Center

    Powell, Jack L.; Jacobson, Alan S.

    Research has found that most people tend to rate themselves as above average on desirable skills or qualities and below average on undesirable qualities. Two factors have been found to influence this self-serving bias: (1) controllability or the perceived control one has over developing a trait; and (2) trait ambiguity in which a positive trait

  1. Responding to Suicidal Calls: Does Trait Anxiety Hinder or Help?

    ERIC Educational Resources Information Center

    Brown, Marceline Moulin; Range, Lillian M.

    2005-01-01

    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.

  2. Beliefs about the Origins of Human Psychological Traits.

    ERIC Educational Resources Information Center

    Heyman, Gail D.; Gelman, Susan A.

    2000-01-01

    Four studies with kindergarten through fifth graders and adults examined the development of reasoning about the origins of psychological traits. Results suggested an age-related increase in the tendency to distinguish among different psychological traits, and that over time, individuals come to believe that psychological traits are determined

  3. QUANTITATIVE TRAIT LOCUS ANALYSIS AS A GENE DISCOVERY TOOL

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Quantitative trait locus analysis has been a mainstay approach for obtaining a genetic description of complex agronomic traits for plants. What is sometimes overlooked is the role QTL analysis can play in identifying genes that underlay complex traits. In this chapter, I will describe the basic st...

  4. Towards deploying genomic selection for improving complex traits in peanut

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Marker-assisted backcrossing (MABC) is an effective approach for improving qualitative traits and has been successfully used to develop improved lines for rust resistance and high oleate trait in peanut. Further efforts are underway to pyramid genomic regions for multiple qualitative traits (rust re...

  5. Short-Term Stability of Psychopathic Traits in Adolescent Offenders

    ERIC Educational Resources Information Center

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

    2009-01-01

    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…

  6. Estimates of genetic correlations among growth traits including competition effects

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The objective was to estimate genetic parameters of direct and competition effects for traits measured at the end of a growth test utilizing multi-trait analyses. A total of 9,720 boars were tested with 15 boars per pen from about 71 to 161 d of age and weight from 31 to 120 kg. Traits analyzed wi...

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

    PubMed

    Sharma, Amitabh; Gulbahce, Natali; Pevzner, Samuel J; Menche, Jrg; Ladenvall, Claes; Folkersen, Lasse; Eriksson, Per; Orho-Melander, Marju; Barabsi, Albert-Lszl

    2013-11-01

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

  8. pathogenesis of the henny feathering trait in the Sebright bantam chicken. Increased conversion of androgen to estrogen in skin.

    PubMed Central

    George, F W; Wilson, J D

    1980-01-01

    In female chickens of all breeds development of female feathering pattern is mediated by estrogens, whereas normal males and castrated chickens of both sexes develop male feathering. Male chickens carrying the henny feathering trait (such as the Sebright bantam and golden Campine) develop a female feathering pattern but otherwise virilize normally. To examine the possibility that the henny feathering trait is the result of increased conversion of androgen to estrogen in skin, estrogen formation from [1,2,6,7-3H]testosterone was measured in tissue slices from control breeds and chickens with the henny feathering trait. Rates of estrogen formation were undetectable or low in all control tissues other than ovary, whereas rates were high in skin and skin appendages and detectable in many tissues from Sebright and Campine birds. The increased rate of estrogen formation in skin was demonstrable in Sebright chicks and in all areas of skin biopsied in the mature bird. Furthermore, plasma levels of 17 beta-estradiol were higher in Sebright and Campine than in control male cocks. Thus, increased formation of estrogen from androgen in the peripheral tissues probably explains the henny feathering trait. Images PMID:7400309

  9. Molecular characterization of cardiac. beta. -adrenergic receptors

    SciTech Connect

    Robinson, D.A.

    1988-01-01

    A rat cardiac cDNA clone and a rat genomic clone encoding the {beta}{sub 2}-adrenergic receptor were isolated and characterized by restriction mapping and automated DNA sequence analysis. The rat cardiac {beta}{sub 2}-receptor consists of 418 amino acids with a calculated molecular weight of 46,890 Da. In order to characterize the rat cardiac {beta}{sub 2}-receptor in more detail, B-82 cells, a murine fibroblast cell line lacking intrinsic {beta}-adrenergic receptors, were transfected with the gene encoding the rat {beta}{sub 2}-receptor, using a vector that allows stable, steroid-inducible expression of mammalian genes. Membranes prepared from transfected cells exhibited specific binding of the {beta}-receptor antagonist ({sup 125}I)iodocyanopindolol (ICYP) that was saturable and of high affinity. Displacement of ICYP binding to rat cardiac receptors by {beta}-adrenergic ligands was stereoselective and exhibited a rank order of potency for agonists expected for a {beta}{sub 2}-adrenergic receptor subtype. Expressed {beta}{sub 2}-receptors photoaffinity labeled with ({sup 125}I)iodocyanopindolol diazirine (ICYP-D) displayed as SDS-PAGE apparent molecular mass of 68,000 suggesting that the receptor is glycosylated 30% by weight. B-82 cells transfected with the rat {beta}{sub 2}-receptor gene exhibited a dose-dependent increase in intracellular levels of cyclic AMP in response to stimulation by isoproterenol.

  10. Beta

    Technology Transfer Automated Retrieval System (TEKTRAN)

    This chapter covers the use of wild beets in sugar beet improvement, including the basic botany of the species, its distribution; geographical locations of genetic diversity; morphology; cytology and karyotype; genome size; taxonomic position; agricultural status (model plant/weeds/invasive species/...

  11. Cloning quantitative trait loci by insertional mutagenesis.

    PubMed

    Soller, M; Beckmann, J S

    1987-07-01

    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 affecting quantitative trait value. Since there are a very large number of potential insertion sites in the genome but only a limited number of target sites that can affect any particular trait, large numbers of inserts will have to be generated and screened. The effects of allelic variants at any single QTL on phenotype value are expected to be small relative to sampling variation. Thus two of three stages of replicate testing will be required for each insert in order to bring overall Type I error down to negligible proportions and yet maintain good statistical power for inserts with true effects on the quantitative traits under consideration. The overall effort involved will depend on the spectrum of mutagenic effects produced by insertional mutagenesis. This spectrum is presently unknown, but using reasonable estimates, about 10,000 inserts would have to be tested, at reasonable replicate numbers (n ? 30) and Type I error (?=0.01) in the first testing stage, to provide a high likelihood of detecting at least one insert with a true effect on a given quantitative trait of interest. Total offspring numbers required per true quantitative mutagenic effect detected decrease strongly with increased number of traits scored and increased number of inserts per initial transformed parent. In fact, it would appear that successful implementation of experiments of this sort will require the introduction of multiple independent inserts in the original parent individuals, by means of repeated transformation, or use of transposable elements as inserts. When biologically feasible, selfing would appear to be the method of choice for insert replication, and in all cases the experiments must be carried out in inbred lines to reduce error variation due to genetic segregation, and avoid confounding mutational effects of the insert with effects due to linkage with nearby segregating QTL. The special qualifications of Arabidopsis thaliana for studies of this sort are emphasized, and problems raised by somaclonal variation are discussed. PMID:24241675

  12. Try-A Global Database of Plant Traits

    SciTech Connect

    Thornton, Peter E

    2011-01-01

    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 biology, community and functional ecology to biogeography. Here we present the global database initiative named TRY, which has united a wide range of the plant trait research community worldwide and gained an unprecedented buy-in of trait data: so far 93 trait databases have been contributed. The data repository currently contains almost three million trait entries for 69 000 out of the world s 300 000 plant species, with a focus on 52 groups of traits characterizing the vegetative and regeneration stages of the plant life cycle, including growth, dispersal, establishment and persistence. A first data analysis shows that most plant traits are approximately log-normally distributed, with widely differing ranges of variation across traits. Most trait variation is between species (interspecific), but significant intraspecific variation is also documented, up to 40% of the overall variation. Plant functional types (PFTs), as commonly used in vegetation models, capture a substantial fraction of the observed variation but for several traits most variation occurs within PFTs, up to 75% of the overall variation. In the context of vegetation models these traits would better be represented by state variables rather than fixed parameter values. The improved availability of plant trait data in the unified global database is expected to support a paradigm shift from species to trait-based ecology, offer new opportunities for synthetic plant trait research and enable a more realistic and empirically grounded representation of terrestrial vegetation in Earth system models.

  13. TRY – a global database of plant traits

    PubMed Central

    Kattge, J; Díaz, S; Lavorel, S; Prentice, I C; Leadley, P; Bönisch, G; Garnier, E; Westoby, M; Reich, P B; Wright, I J; Cornelissen, J H C; Violle, C; Harrison, S P; Van Bodegom, P M; Reichstein, M; Enquist, B J; Soudzilovskaia, N A; Ackerly, D D; Anand, M; Atkin, O; Bahn, M; Baker, T R; Baldocchi, D; Bekker, R; Blanco, C C; Blonder, B; Bond, W J; Bradstock, R; Bunker, D E; Casanoves, F; Cavender-Bares, J; Chambers, J Q; Chapin, F S; Chave, J; Coomes, D; Cornwell, W K; Craine, J M; Dobrin, B H; Duarte, L; Durka, W; Elser, J; Esser, G; Estiarte, M; Fagan, W F; Fang, J; Fernández-Méndez, F; Fidelis, A; Finegan, B; Flores, O; Ford, H; Frank, D; Freschet, G T; Fyllas, N M; Gallagher, R V; Green, W A; Gutierrez, A G; Hickler, T; Higgins, S I; Hodgson, J G; Jalili, A; Jansen, S; Joly, C A; Kerkhoff, A J; Kirkup, D; Kitajima, K; Kleyer, M; Klotz, S; Knops, J M H; Kramer, K; Kühn, I; Kurokawa, H; Laughlin, D; Lee, T D; Leishman, M; Lens, F; Lenz, T; Lewis, S L; Lloyd, J; Llusià, J; Louault, F; Ma, S; Mahecha, M D; Manning, P; Massad, T; Medlyn, B E; Messier, J; Moles, A T; Müller, S C; Nadrowski, K; Naeem, S; Niinemets, Ü; Nöllert, S; Nüske, A; Ogaya, R; Oleksyn, J; Onipchenko, V G; Onoda, Y; Ordoñez, J; Overbeck, G; Ozinga, W A; Patiño, S; Paula, S; Pausas, J G; Peñuelas, J; Phillips, O L; Pillar, V; Poorter, H; Poorter, L; Poschlod, P; Prinzing, A; Proulx, R; Rammig, A; Reinsch, S; Reu, B; Sack, L; Salgado-Negret, B; Sardans, J; Shiodera, S; Shipley, B; Siefert, A; Sosinski, E; Soussana, J-F; Swaine, E; Swenson, N; Thompson, K; Thornton, P; Waldram, M; Weiher, E; White, M; White, S; Wright, S J; Yguel, B; Zaehle, S; Zanne, A E; Wirth, C

    2011-01-01

    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 biology, community and functional ecology to biogeography. Here we present the global database initiative named TRY, which has united a wide range of the plant trait research community worldwide and gained an unprecedented buy-in of trait data: so far 93 trait databases have been contributed. The data repository currently contains almost three million trait entries for 69 000 out of the world's 300 000 plant species, with a focus on 52 groups of traits characterizing the vegetative and regeneration stages of the plant life cycle, including growth, dispersal, establishment and persistence. A first data analysis shows that most plant traits are approximately log-normally distributed, with widely differing ranges of variation across traits. Most trait variation is between species (interspecific), but significant intraspecific variation is also documented, up to 40% of the overall variation. Plant functional types (PFTs), as commonly used in vegetation models, capture a substantial fraction of the observed variation – but for several traits most variation occurs within PFTs, up to 75% of the overall variation. In the context of vegetation models these traits would better be represented by state variables rather than fixed parameter values. The improved availability of plant trait data in the unified global database is expected to support a paradigm shift from species to trait-based ecology, offer new opportunities for synthetic plant trait research and enable a more realistic and empirically grounded representation of terrestrial vegetation in Earth system models.

  14. HbHope/HbS and HbS/beta-thal double compound heterozygosity in a Mauritanian family: clinical and biochemical studies.

    PubMed

    Deyde, V M; Lo, B B; Aw, T; Fattoum, S

    2003-07-01

    The hemoglobin Hope was discovered in a Mauritanian family that comes from Gorgol in the southwest of the country. The family belongs to the Sonink ethnic group, which is one of the black population groups in Mauritania. Along with this abnormal hemoglobin, HbS and beta-thalassemia were also found. This family, which we refer to as D, was encountered during a survey we conducted to study hemoglobinopathies in Mauritania. First the father was identified to carry an association of HbS and HbHope, then the study was extended to the entire family members: the wife who was found to have a beta-thalassemia trait and their three children who were found to carry HbS/beta-thalassemia mutations each. All together this family carries three different mutations that resulted in a double compound heterozygosity HbHope/HbS and HbS/beta-thal. PMID:12764548

  15. [Osteoarthropathy in beta-thalassemia].

    PubMed

    Musaev, S K; Iakovleva, G I; Nasonova, V A; Smirnov, A V; Abasov, E Sh; Efendieva, E G

    1991-01-01

    A total of 45 patients with beta-thalassemia and 30 patients with thalassemia intermedia underwent clinical and x-ray examinations. Electron microscopy was used to examine biopsy specimens of the synovial membrane from 6 patients with homozygous thalassemia intermedia. It has been revealed that damage to the osseous system and joints is of systemic nature and depends on the clinical form of the pathological process. Morphological methods have demonstrated abnormal metabolism of iron with its deposition in the tissues and impairment of the vessels of the microcirculatory bed. PMID:1887421

  16. Neutrino Factories and Beta Beams

    SciTech Connect

    Zisman, Michael S.

    2006-06-21

    In this paper we briefly review the concepts of Neutrino Factories and Beta Beam facilities, and indicate the main challenges in terms of beam performance and technological developments. We also describe the worldwide organizations that have embarked on defining and carrying out the necessary R&D on component design, beam simulations of facility performance, and benchmarking of key subsystems via actual beam tests. Currently approved subsystem tests include the Muon Ionization Cooling Experiment (MICE), under construction at Rutherford Appleton Laboratory, and the Mercury Intense Target (MERIT) experiment, to be carried out at CERN. These experiments are briefly described, and their schedules are indicated.

  17. Predicting neutrinoless double beta decay

    NASA Astrophysics Data System (ADS)

    Hirsch, M.; Ma, Ernest; Del Moral, A. Villanova; Valle, J. W. F.

    2005-11-01

    We give predictions for the neutrinoless double beta decay rate in a simple variant of the A4 family symmetry model. We show that there is a lower bound for the ??0? amplitude even in the case of normal hierarchical neutrino masses, corresponding to an effective mass parameter |mee|?0.17?mATM2. This result holds both for the CP conserving and CP violating cases. In the latter case we show explicitly that the lower bound on |mee| is sensitive to the value of the Majorana phase. We conclude therefore that in our scheme, ??0? may be accessible to the next generation of high sensitivity experiments.

  18. Genetic parameters and mapping quantitative trait loci associated with tibia traits in broilers.

    PubMed

    Ragognetti, B N N; Stafuzza, N B; Silva, T B R; Chud, T C S; Grupioni, N V; Cruz, V A R; Peixoto, J O; Nones, K; Ledur, M C; Munari, D P

    2015-01-01

    Selection among broilers for performance traits is resulting in locomotion problems and bone disorders, once skeletal structure is not strong enough to support body weight in broilers with high growth rates. In this study, genetic parameters were estimated for body weight at 42 days of age (BW42), and tibia traits (length, width, and weight) in a population of broiler chickens. Quantitative trait loci (QTL) were identified for tibia traits to expand our knowledge of the genetic architecture of the broiler population. Genetic correlations ranged from 0.56 0.18 (between tibia length and BW42) to 0.89 0.06 (between tibia width and weight), suggesting that these traits are either controlled by pleiotropic genes or by genes that are in linkage disequilibrium. For QTL mapping, the genome was scanned with 127 microsatellites, representing a coverage of 2630 cM. Eight QTL were mapped on Gallus gallus chromosomes (GGA): GGA1, GGA4, GGA6, GGA13, and GGA24. The QTL regions for tibia length and weight were mapped on GGA1, between LEI0079 and MCW145 markers. The gene DACH1 is located in this region; this gene acts to form the apical ectodermal ridge, responsible for limb development. Body weight at 42 days of age was included in the model as a covariate for selection effect of bone traits. Two QTL were found for tibia weight on GGA2 and GGA4, and one for tibia width on GGA3. Information originating from these QTL will assist in the search for candidate genes for these bone traits in future studies. PMID:26782399

  19. The neurobiology of psychopathic traits in youths

    PubMed Central

    Blair, R. James J.

    2015-01-01

    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

  20. Method for preparing Pb-. beta. ''-alumina ceramic

    DOEpatents

    Hellstrom, E.E.

    1984-08-30

    A process is disclosed for preparing impermeable, polycrystalline samples of Pb-..beta..''-alumina ceramic from Na-..beta..''-alumina ceramic by ion exchange. The process comprises two steps. The first step is a high-temperature vapor phase exchange of Na by K, followed by substitution of Pb for K by immersing the sample in a molten Pb salt bath. The result is a polycrystalline Pb-..beta..''-alumina ceramic that is substantially crack-free.

  1. Plant functional traits and the multidimensional nature of species coexistence

    PubMed Central

    Kraft, Nathan J. B.; Godoy, Oscar; Levine, Jonathan M.

    2015-01-01

    Understanding the processes maintaining species diversity is a central problem in ecology, with implications for the conservation and management of ecosystems. Although biologists often assume that trait differences between competitors promote diversity, empirical evidence connecting functional traits to the niche differences that stabilize species coexistence is rare. Obtaining such evidence is critical because traits also underlie the average fitness differences driving competitive exclusion, and this complicates efforts to infer community dynamics from phenotypic patterns. We coupled field-parameterized mathematical models of competition between 102 pairs of annual plants with detailed sampling of leaf, seed, root, and whole-plant functional traits to relate phenotypic differences to stabilizing niche and average fitness differences. Single functional traits were often well correlated with average fitness differences between species, indicating that competitive dominance was associated with late phenology, deep rooting, and several other traits. In contrast, single functional traits were poorly correlated with the stabilizing niche differences that promote coexistence. Niche differences could only be described by combinations of traits, corresponding to differentiation between species in multiple ecological dimensions. In addition, several traits were associated with both fitness differences and stabilizing niche differences. These complex relationships between phenotypic differences and the dynamics of competing species argue against the simple use of single functional traits to infer community assembly processes but lay the groundwork for a theoretically justified trait-based community ecology. PMID:25561561

  2. Plant functional traits and the multidimensional nature of species coexistence.

    PubMed

    Kraft, Nathan J B; Godoy, Oscar; Levine, Jonathan M

    2015-01-20

    Understanding the processes maintaining species diversity is a central problem in ecology, with implications for the conservation and management of ecosystems. Although biologists often assume that trait differences between competitors promote diversity, empirical evidence connecting functional traits to the niche differences that stabilize species coexistence is rare. Obtaining such evidence is critical because traits also underlie the average fitness differences driving competitive exclusion, and this complicates efforts to infer community dynamics from phenotypic patterns. We coupled field-parameterized mathematical models of competition between 102 pairs of annual plants with detailed sampling of leaf, seed, root, and whole-plant functional traits to relate phenotypic differences to stabilizing niche and average fitness differences. Single functional traits were often well correlated with average fitness differences between species, indicating that competitive dominance was associated with late phenology, deep rooting, and several other traits. In contrast, single functional traits were poorly correlated with the stabilizing niche differences that promote coexistence. Niche differences could only be described by combinations of traits, corresponding to differentiation between species in multiple ecological dimensions. In addition, several traits were associated with both fitness differences and stabilizing niche differences. These complex relationships between phenotypic differences and the dynamics of competing species argue against the simple use of single functional traits to infer community assembly processes but lay the groundwork for a theoretically justified trait-based community ecology. PMID:25561561

  3. Do community-weighted mean functional traits reflect optimal strategies?

    PubMed

    Muscarella, Robert; Uriarte, María

    2016-03-30

    The notion that relationships between community-weighted mean (CWM) traits (i.e. plot-level trait values weighted by species abundances) and environmental conditions reflect selection towards locally optimal phenotypes is challenged by the large amount of interspecific trait variation typically found within ecological communities. Reconciling these contrasting patterns is a key to advancing predictive theories of functional community ecology. We combined data on geographical distributions and three traits (wood density, leaf mass per area and maximum height) of 173 tree species in Puerto Rico. We tested the hypothesis that species are more likely to occur where their trait values are more similar to the local CWM trait values (the'CWM-optimality' hypothesis) by comparing species occurrence patterns (as a proxy for fitness) with the functional composition of forest plots across a precipitation gradient. While 70% of the species supported CWM-optimality for at least one trait, nearly 25% significantly opposed it for at least one trait, thereby contributing to local functional diversity. The majority (85%) of species that opposed CWM-optimality did so only for one trait and few species opposed CWM-optimality in multivariate trait space. Our study suggests that constraints to local functional variation act more strongly on multivariate phenotypes than on univariate traits. PMID:27030412

  4. How are personality trait and profile agreement related?

    PubMed Central

    Allik, Jri; Borkenau, Peter; H?eb?kov, Martina; Kuppens, Peter; Realo, Anu

    2015-01-01

    It is argued that if we compute self-other agreement on some personality traits then we possess no or very little information about the individuals who are the targets of this judgment. This idea is largely based on two separate ways of computing self-other agreement: trait agreement (rT) and profile agreement (rP), which are typically associated with two different trait-centered and person-centered approaches in personality research. Personality traits of 4115 targets from Czech, Belgian, Estonian, and German samples were rated by themselves and knowledgeable informants. We demonstrate that trait agreement can be partialled into individual contributions so that it is possible to show how much each individual pair of judges contributes to agreement on a particular trait. Similarly, it is possible to decompose agreement between two personality profiles into the individual contributions of traits from which these profiles are assembled. If normativeness is separated from distinctiveness of personality scores and individual profiles are ipsatized, then mean profile agreement rP becomes identical to mean trait agreement rT. The views that trait-by-trait analysis does not provide information regarding accuracy level of a particular pair of judges and profile analysis does not permit assessment of the relative contributions of traits to overall accuracy are not supported. PMID:26106356

  5. Androgen receptor-beta mRNA levels in different tissues in breeding and post-breeding male and female sticklebacks, Gasterosteus aculeatus

    PubMed Central

    2012-01-01

    Background Androgens induce male characters by activating androgen receptors (AR). Previous quantitative studies on AR in fishes have been limited to few tissues and/or a single season/reproductive state. The aim of this investigation was to study the possible role of AR-beta expression levels in the control of male traits in the three-spined stickleback. To that end, AR-beta expression levels in major tissues in breeding and post-breeding male and female sticklebacks were examined. Methods AR-beta mRNA levels were quantified in ten tissues; eye, liver, axial muscle, heart, brain, intestine, ovary, testis, kidney and pectoral muscle in six breeding and post-breeding males and females using reverse transcription quantitative PCR. Results Breeding in contrast to post-breeding males built nests and showed secondary sexual characters (e.g. kidney hypertrophy) and elevated androgen levels. Post-breeding females had lower ovarian weights and testosterone levels than breeding females. AR-beta was expressed in all studied tissues in both sexes and reproductive states with the highest expression in the gonads and in the kidneys. The kidney is an androgen target organ in sticklebacks, from which breeding males produce the protein spiggin, which is used in nest-building. There was also high AR-beta expression in the intestine, an organ that appears to take over hyperosmo-regulation in fresh water when the kidney hypertrophies in mature males and largely loses this function. The only tissue that showed effects of sex or reproductive state on AR-beta mRNA levels was the kidneys, where post-breeding males displayed higher AR-beta mRNA levels than breeding males. Conclusion The results indicate that changes in AR-beta mRNA levels play no or little role in changes in androgen dependent traits in the male stickleback. PMID:22455382

  6. Neuroendocrine correlates of temperamental traits in humans.

    PubMed

    Gerra, G; Zaimovic, A; Timpano, M; Zambelli, U; Delsignore, R; Brambilla, F

    2000-07-01

    Studies investigating temperament traits in humans and their biological correlates have found high levels of novelty seeking (NS) linked with dopaminergic system changes, and particularly a deficit of dopamine transporter. Harm avoidance and reward dependence, on the other hand, appeared to be associated, respectively with serotonin and noradrenaline changes. In the present study, we have investigated the dopaminergic (DA), serotonergic (5-HT), and noradrenergic (NE) functions in healthy volunteers by challenging the monoamine systems with the DA agonist bromocriptine, the 5-HT agonist D-fenfluramine, and the NE agonist clonidine, respectively. Parallel to this investigation, we examined the temperament traits of our subjects by measuring NS, harm avoidance (HA) and reward dependence (RD) using the 'Three-dimensional Personality Questionnaire' (TPQ). The aims of the study were to see whether or not the monoamine functions were correlated with temperament traits. Bromocriptine challenge induced a significant GH increase and a significant suppression of PRL. D-fenfluramine test significantly increased PRL and cortisol plasma levels and Clonidine test induced a significant rise in GH values. NS scores showed a significant direct correlation with brom-stimulated GH values (r=0.426, P<0.05) and a significant inverse correlation with brom-inhibited PRL values (r=-0.498, P<0.01). HA scores correlated significantly with D-fen-stimulated PRL and CORT AUCs, (PRL: r=0.424, P<0.05; CORT: r=0. 595, P<0.005). RD scores correlated positively with clon-stimulated GH values (r=0.55; F=8.6; P<0.01) and negatively with brom-inhibited-PRL AUCs (r=-0.439, P<0.05). Our data support Cloninger theory concerning the biological correlates of temperamental traits, and evidence the link between the neuroendocrine responses to dynamic challenges and stable temperament features. PMID:10818282

  7. Pitfalls of predicting complex traits from SNPs.

    PubMed

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

    2013-07-01

    The success of genome-wide association studies (GWASs) has led to increasing interest in making predictions of complex trait phenotypes, including disease, from genotype data. Rigorous assessment of the value of predictors is crucial before implementation. Here we discuss some of the limitations and pitfalls of prediction analysis and show how naive implementations can lead to severe bias and misinterpretation of results. PMID:23774735

  8. Multi-ethnic studies in complex traits.

    PubMed

    Fu, Jingyuan; Festen, Eleonora A M; Wijmenga, Cisca

    2011-10-15

    The successes of genome-wide association (GWA) studies have mainly come from studies performed in populations of European descent. Since complex traits are characterized by marked genetic heterogeneity, the findings so far may provide an incomplete picture of the genetic architecture of complex traits. However, the recent GWA studies performed on East Asian populations now allow us to globally assess the heterogeneity of association signals between populations of European ancestry and East Asians, and the possible obstacles for multi-ethnic GWA studies. We focused on four different traits that represent a broad range of complex phenotypes, which have been studied in both Europeans and East Asians: type 2 diabetes, systemic lupus erythematosus, ulcerative colitis and height. For each trait, we observed that most of the risk loci identified in East Asians were shared with Europeans. However, we also observed that a significant part of the association signals at these shared loci seems to be independent between populations. This suggests that disease aetiology is common between populations, but that risk variants are often population specific. These variants could be truly population specific and result from natural selection, genetic drift and recent mutations, or they could be spurious, caused by the limitations of the method of analysis employed in the GWA studies. We therefore propose a three-stage framework for multi-ethnic GWA analyses, starting with the commonly used single-nucleotide polymorphism-based analysis, and followed by a gene-based approach and a pathway-based analysis, which will take into account the heterogeneity of association between populations at different levels. PMID:21890495

  9. Beta cell device using icosahedral boride compounds

    DOEpatents

    Aselage, Terrence L. (62 Avenida Del Sol, Cedar Crest, NM 87008); Emin, David (1502 Harvard Ct., NE., Albuquerque, NM 87106-3712)

    2002-01-01

    A beta cell for converting beta-particle energies into electrical energy having a semiconductor junction that incorporates an icosahedral boride compound selected from B.sub.12 As.sub.2, B.sub.12 P.sub.2, elemental boron having an .alpha.-rhombohedral structure, elemental boron having a .beta.-rhombohedral structure, and boron carbides of the chemical formula B.sub.12-x C.sub.3-x, where 0.15beta radiation source, and means for transmitting electrical energy to an outside load. The icosahedral boride compound self-heals, resisting degradation from radiation damage.

  10. Milk Intolerance, Beta-Casein and Lactose

    PubMed Central

    Pal, Sebely; Woodford, Keith; Kukuljan, Sonja; Ho, Suleen

    2015-01-01

    True lactose intolerance (symptoms stemming from lactose malabsorption) is less common than is widely perceived, and should be viewed as just one potential cause of cows’ milk intolerance. There is increasing evidence that A1 beta-casein, a protein produced by a major proportion of European-origin cattle but not purebred Asian or African cattle, is also associated with cows’ milk intolerance. In humans, digestion of bovine A1 beta-casein, but not the alternative A2 beta-casein, releases beta-casomorphin-7, which activates μ-opioid receptors expressed throughout the gastrointestinal tract and body. Studies in rodents show that milk containing A1 beta-casein significantly increases gastrointestinal transit time, production of dipeptidyl peptidase-4 and the inflammatory marker myeloperoxidase compared with milk containing A2 beta-casein. Co-administration of the opioid receptor antagonist naloxone blocks the myeloperoxidase and gastrointestinal motility effects, indicating opioid signaling pathway involvement. In humans, a double-blind, randomized cross-over study showed that participants consuming A1 beta-casein type cows’ milk experienced statistically significantly higher Bristol stool values compared with those receiving A2 beta-casein milk. Additionally, a statistically significant positive association between abdominal pain and stool consistency was observed when participants consumed the A1 but not the A2 diet. Further studies of the role of A1 beta-casein in milk intolerance are needed. PMID:26404362

  11. Milk Intolerance, Beta-Casein and Lactose.

    PubMed

    Pal, Sebely; Woodford, Keith; Kukuljan, Sonja; Ho, Suleen

    2015-09-01

    True lactose intolerance (symptoms stemming from lactose malabsorption) is less common than is widely perceived, and should be viewed as just one potential cause of cows' milk intolerance. There is increasing evidence that A1 beta-casein, a protein produced by a major proportion of European-origin cattle but not purebred Asian or African cattle, is also associated with cows' milk intolerance. In humans, digestion of bovine A1 beta-casein, but not the alternative A2 beta-casein, releases beta-casomorphin-7, which activates ?-opioid receptors expressed throughout the gastrointestinal tract and body. Studies in rodents show that milk containing A1 beta-casein significantly increases gastrointestinal transit time, production of dipeptidyl peptidase-4 and the inflammatory marker myeloperoxidase compared with milk containing A2 beta-casein. Co-administration of the opioid receptor antagonist naloxone blocks the myeloperoxidase and gastrointestinal motility effects, indicating opioid signaling pathway involvement. In humans, a double-blind, randomized cross-over study showed that participants consuming A1 beta-casein type cows' milk experienced statistically significantly higher Bristol stool values compared with those receiving A2 beta-casein milk. Additionally, a statistically significant positive association between abdominal pain and stool consistency was observed when participants consumed the A1 but not the A2 diet. Further studies of the role of A1 beta-casein in milk intolerance are needed. PMID:26404362

  12. Beta-glucosidase, exo-beta-glucanase and pyridoxine transglucosylase activities of rice BGlu1.

    PubMed Central

    Opassiri, Rodjana; Hua, Yanling; Wara-Aswapati, Onnop; Akiyama, Takashi; Svasti, Jisnuson; Esen, Asim; Ketudat Cairns, James R

    2004-01-01

    The bglu1 cDNA for a beta-glucosidase cloned from rice (Oryza sativa L.) seedlings was expressed as a soluble and active protein in Escherichia coli and designated BGlu1. This enzyme hydrolysed beta-1,4-linked oligosaccharides with increasing catalytic efficiency (kcat/Km) values as the DP (degree of polymerization) increased from 2 to 6. In contrast, hydrolysis of beta-1,3-linked oligosaccharides decreased from DP 2 to 3, and polymers with a DP greater than 3 were not hydrolysed. The enzyme also hydrolysed p -nitrophenyl beta-D-glycosides and some natural glucosides but with lower catalytic efficiency than beta-linked oligosaccharides. Pyridoxine 5'-O-beta-D-glucoside was the most efficiently hydrolysed natural glycoside tested. BGlu1 also had high transglucosylation activity towards pyridoxine, producing pyridoxine 5'-O-beta-D-glucopyranoside in the presence of the glucose donor p-nitrophenyl beta-D-glucoside. PMID:14692878

  13. Transgenic trait deployment using designed nucleases.

    PubMed

    Petolino, Joseph F; Kumar, Sandeep

    2016-02-01

    The demand for crops requiring increasingly complex combinations of transgenes poses unique challenges for transgenic trait deployment. Future value-adding traits such as those associated with crop performance are expected to involve multiple transgenes. Random integration of transgenes not only results in unpredictable expression and potential unwanted side effects but stacking multiple, randomly integrated, independently segregating transgenes creates breeding challenges during introgression and product development. Designed nucleases enable the creation of targeted DNA double-strand breaks at specified genomic locations whereby repair can result in targeted transgene integration leading to precise alterations in DNA sequences for plant genome editing, including the targeting of a transgene to a genomic locus that supports high-level and stable transgene expression without interfering with resident gene function. In addition, targeted DNA integration via designed nucleases allows for the addition of transgenes into previously integrated transgenic loci to create stacked products. The currently reported frequencies of independently generated transgenic events obtained with site-specific transgene integration without the aid of selection for targeting are very low. A modular, positive selection-based gene targeting strategy has been developed involving cassette exchange of selectable marker genes which allows for targeted events to be preferentially selected, over multiple cycles of sequential transformation. This, combined with the demonstration of intragenomic recombination following crossing of transgenic events that contain stably integrated donor and target DNA constructs with nuclease-expressing plants, points towards the future of trait stacking that is less dependent on high-efficiency transformation. PMID:26332789

  14. Explaining additional genetic variation in complex traits.

    PubMed

    Robinson, Matthew R; Wray, Naomi R; Visscher, Peter M

    2014-04-01

    Genome-wide association studies (GWAS) have provided valuable insights into the genetic basis of complex traits, discovering >6000 variants associated with >500 quantitative traits and common complex diseases in humans. The associations identified so far represent only a fraction of those that influence phenotype, because there are likely to be many variants across the entire frequency spectrum, each of which influences multiple traits, with only a small average contribution to the phenotypic variance. This presents a considerable challenge to further dissection of the remaining unexplained genetic variance within populations, which limits our ability to predict disease risk, identify new drug targets, improve and maintain food sources, and understand natural diversity. This challenge will be met within the current framework through larger sample size, better phenotyping, including recording of nongenetic risk factors, focused study designs, and an integration of multiple sources of phenotypic and genetic information. The current evidence supports the application of quantitative genetic approaches, and we argue that one should retain simpler theories until simplicity can be traded for greater explanatory power. PMID:24629526

  15. Morphoscopic Trait Expression in "Hispanic" Populations.

    PubMed

    Hefner, Joseph T; Pilloud, Marin A; Black, Cullen J; Anderson, Bruce E

    2015-09-01

    This study evaluates population variation of eight cranial morphoscopic traits using samples of known southwest Hispanics (n=72), Guatemalans (n=106), American Blacks (n=146), and American Whites (n=218). We applied the support vector machine (SVM) method to build a prediction model based on a subsample (20%) of the data; the remainder of the data was used as a test sample. The SVM approach effectively differentiated between the four groups with correct classification rates between 72% (Guatemalan group) and 94% (American Black group). However, when the Guatemalan and southwest Hispanic samples were pooled, the same model correctly classified all groups with a higher degree of accuracy (American Black=96%; American White=77%; and the pooled Hispanic sample=91%). This study also identified significant differences between the two Hispanic groups in six of the eight traits using univariate statistical tests. These results speak to the unique population histories of these samples and the current use of the term "Hispanic" within forensic anthropology. Finally, we argue that the SVM can be used as a classification model for ancestry estimation in a forensic context and as a diagnostic tool may broaden the application of morphoscopic trait data for the assessment of ancestry. PMID:26272587

  16. Modelling the ecological niche from functional traits

    PubMed Central

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

    2010-01-01

    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. PMID:20921046

  17. Can reinforcement occur with a learned trait?

    PubMed

    Olofsson, Helen; Frame, Alicia M; Servedio, Maria R

    2011-07-01

    We use birdsong as a case study to ask whether reinforcement can occur via the spread of a genetically determined female preference for a socially inherited (learned) male trait. We envision secondary contact between two neighboring populations with different song dialects. An individual's ability to learn song is confined by a genetic predisposition: if predispositions are strong, there will be no phenotypic overlap in song between populations, whereas weak predispositions allow phenotypic overlap, or "mixed" song. To determine if reinforcement has occurred, we consider if an allele for within-population female mating preference, based on song, can spread, and whether population specific songs can concurrently be maintained at equilibrium. We model several scenarios, including costs to mating preferences, mating preferences in hybrids, and hybrids having the ability to learn pure songs. We find that when weak predispositions are fixed within a population reinforcement based on song cannot occur. However, when some individuals have strong predispositions, restricting phenotypic overlap between populations in the trait, reinforcement is only slightly inhibited from a purely genetic model. Generalizing beyond the example of song, we conclude that socially learned signals will tend to prohibit reinforcement, but it may still occur if some individuals acquire trait phenotypes genetically. PMID:21729054

  18. Explaining additional genetic variation in complex traits

    PubMed Central

    Robinson, Matthew R.; Wray, Naomi R.; Visscher, Peter M.

    2015-01-01

    Genome-wide association studies (GWAS) have provided valuable insights into the genetic basis of complex traits, discovering >6000 variants associated with >500 quantitative traits and common complex diseases in humans. The associations identified so far represent only a fraction of those which influence phenotype, as there are likely to be very many variants across the entire frequency spectrum, each of which influences multiple traits, with only a small average contribution to the phenotypic variance. This presents a considerable challenge to further dissection of the remaining unexplained genetic variance within populations, which limits our ability to predict disease risk, identify new drug targets, improve and maintain food sources, and understand natural diversity. This challenge will be met within the current framework through larger sample size, better phenotyping including recording of non-genetic risk factors, focused study designs, and an integration of multiple sources of phenotypic and genetic information. The current evidence supports the application of quantitative genetic approaches, and we argue that one should retain simpler theories until simplicity can be traded for greater explanatory power. PMID:24629526

  19. High Resolution QTL Map Of Net Merit Component Traits And Calving Traits From Genome-Wide Association Analysis In Contemporary U.S. Holstein Cows

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A QTL map of 725 SNPs affecting 13 dairy traits (top 100 effects per trait) was constructed based on a genome-wide association analysis of 1,654 contemporary U.S. Holstein cows genotyped with 45,878 SNPs. The 13 traits were net merit (NM$), its 8 component traits and 4 calving traits. The top 100 ef...

  20. Genetic association of growth traits with carcass and meat traits in Nellore cattle.

    PubMed

    Tonussi, R L; Espigolan, R; Gordo, D G M; Magalhes, A F B; Venturini, G C; Baldi, F; de Oliveira, H N; Chardulo, L A L; Tonhati, H; de Albuquerque, L G

    2015-01-01

    The aim of this study was to estimate genetic and phenotypic associations of growth traits with carcass and meat traits in Nellore cattle. Data from male and female animals were used for weaning weight (WW; N = 241,416), yearling weight (YW, N = 126,596), weight gain from weaning to yearling (GWY, N = 78,687), and yearling hip height (YHH, N = 90,720), respectively; 877 male animals were used for hot carcass weight (HCW) and 884 for longissimus muscle area (LMA), backfat thickness (BT), marbling score (MS), and shear force (SF). The variance components were estimated by the restricted maximum likelihood method using three-trait animal models that included WW. The model for WW included direct and maternal additive genetic, maternal permanent environmental, and residual effects as random effects; contemporary group as fixed effects; and age of dam at calving and age of animal as covariates (linear and quadratic effects). For the other traits, maternal effects and the effect of age of dam at calving were excluded from the model. Heritability ranged from 0.10 0.12 (LMA) to 0.44 0.007 (YW). Genetic correlations ranged from -0.40 0.38 (WW x LMA) to 0.55 0.10 (HCW x YW). Growth, carcass, and meat traits have sufficient genetic variability to be included as selection criteria in animal breeding programs. PMID:26782521

  1. Multi-trait BLUP model indicates sorghum hybrids with genetic potential for agronomic and nutritional traits.

    PubMed

    Almeida Filho, J E; Tardin, F D; Guimarães, J F R; Resende, M D V; Silva, F F; Simeone, M L; Menezes, C B; Queiroz, V A V

    2016-01-01

    The breeding of sorghum, Sorghum bicolor (L.) Moench, aimed at improving its nutritional quality, is of great interest, since it can be used as a highly nutritive alternative food source and can possibly be cultivated in regions with low rainfall. The objective of the present study was to evaluate the potential and genetic diversity of grain-sorghum hybrids for traits of agronomic and nutritional interest. To this end, the traits grain yield and flowering, and concentrations of protein, potassium, calcium, magnesium, sulfur, iron, manganese, and zinc in the grain were evaluated in 25 grain-sorghum hybrids, comprising 18 experimental hybrids of Embrapa Milho e Sorgo and seven commercial hybrids. The genetic potential was analyzed by a multi-trait best linear unbiased prediction (BLUP) model, and cluster analysis was accomplished by squared Mahalanobis distance using the predicted genotypic values. Hybrids 0306037 and 0306034 stood out in the agronomic evaluation. The hybrids with agronomic prominence, however, did not stand out for the traits related to the nutritional quality of the grain. Three clusters were formed from the dendrogram obtained with the unweighted pair group method with arithmetic mean method. From the results of the genotypic BLUP and the analysis of the dendrogram, hybrids 0577337, 0441347, 0307651, and 0306037 were identified as having the potential to establish a population that can aggregate alleles for all the evaluated traits of interest. PMID:26985915

  2. Genetic diversity, population structure and marker trait associations for seed quality traits in cotton (Gossypium hirsutum).

    PubMed

    Badigannavar, Ashok; Myers, Gerald O

    2015-03-01

    Cottonseed contains 16% seed oil and 23% seed protein by weight. High levels of palmitic acid provides a degree of stability to the oil, while the presence of bound gossypol in proteins considerably changes their properties, including their biological value. This study uses genetic principles to identify genomic regions associated with seed oil, protein and fibre content in upland cotton cultivars. Cotton association mapping panel representing the US germplasm were genotyped using amplified fragment length polymorphism markers, yielding 234 polymorphic DNA fragments. Phenotypic analysis showed high genetic variability for the seed traits, seed oil range from 6.47-25.16%, protein from 1.85-28.45% and fibre content from 15.88-37.12%. There were negative correlations between seed oil and protein content.With reference to genetic diversity, the average estimate of FST was 8.852 indicating a low level of genetic differentiation among subpopulations. The AMOVA test revealed that variation was 94% within and 6% among subpopulations. Bayesian population structure identified five subpopulations and was in agreement with their geographical distribution. Among the mixed models analysed, mixed linear model (MLM) identified 21 quantitative trait loci for lint percentage and seed quality traits, such as seed protein and oil. Establishing genetic diversity, population structure and marker trait associations for the seed quality traits could be valuable in understanding the genetic relationships and their utilization in breeding programmes. PMID:25846880

  3. FishTraits: a database of ecological and life-history traits of freshwater fishes of the United States

    USGS Publications Warehouse

    Frimpong, Emmanuel A.; Angermeier, Paul L.

    2009-01-01

    The need for integrated and widely accessible sources of species traits data to facilitate studies of ecology, conservation, and management has motivated development of traits databases for various taxa. In spite of the increasing number of traits-based analyses of freshwater fishes in the United States, no consolidated database of traits of this group exists publicly, and much useful information on these species is documented only in obscure sources. The largely inaccessible and unconsolidated traits information makes large-scale analysis involving many fishes and/or traits particularly challenging. We have compiled a database of > 100 traits for 809 (731 native and 78 nonnative) fish species found in freshwaters of the conterminous United States, including 37 native families and 145 native genera. The database, named Fish Traits, contains information on four major categories of traits: (1) trophic ecology; (2) body size, reproductive ecology, and life history; (3) habitat preferences; and (4) salinity and temperature tolerances. Information on geographic distribution and conservation status was also compiled. The database enhances many opportunities for conducting research on fish species traits and constitutes the first step toward establishing a central repository for a continually expanding set of traits of North American fishes.

  4. FishTraits: A Database of Ecological and Life-history Traits of Freshwater Fishes of the United States

    USGS Publications Warehouse

    Angermeier, Paul L.; Frimpong, Emmanuel A.

    2011-01-01

    The need for integrated and widely accessible sources of species traits data to facilitate studies of ecology, conservation, and management has motivated development of traits databases for various taxa. In spite of the increasing number of traits-based analyses of freshwater fishes in the United States, no consolidated database of traits of this group exists publicly, and much useful information on these species is documented only in obscure sources. The largely inaccessible and unconsolidated traits information makes large-scale analysis involving many fishes and/or traits particularly challenging. We have compiled a database of > 100 traits for 809 (731 native and 78 nonnative) fish species found in freshwaters of the conterminous United States, including 37 native families and 145 native genera. The database, named Fish Traits, contains information on four major categories of traits: (1) trophic ecology; (2) body size, reproductive ecology, and life history; (3) habitat preferences; and (4) salinity and temperature tolerances. Information on geographic distribution and conservation status was also compiled. The database enhances many opportunities for conducting research on fish species traits and constitutes the first step toward establishing a central repository for a continually expanding set of traits of North American fishes.

  5. Imperfect World of beta beta-decay Nuclear Data Sets

    SciTech Connect

    Pritychenko, B.

    2015-01-03

    The precision of double-beta ββ-decay experimental half lives and their uncertainties is reanalyzed. The method of Benford's distributions has been applied to nuclear reaction, structure and decay data sets. First-digit distribution trend for ββ-decay T2v1/2 is consistent with large nuclear reaction and structure data sets and provides validation of experimental half-lives. A complementary analysis of the decay uncertainties indicates deficiencies due to small size of statistical samples, and incomplete collection of experimental information. Further experimental and theoretical efforts would lead toward more precise values of-decay half-lives and nuclear matrix elements.

  6. Proteopedia: Rossmann Fold: A Beta-Alpha-Beta Fold at Dinucleotide Binding Sites

    ERIC Educational Resources Information Center

    Hanukoglu, Israel

    2015-01-01

    The Rossmann fold is one of the most common and widely distributed super-secondary structures. It is composed of a series of alternating beta strand () and alpha helical (a) segments wherein the -strands are hydrogen bonded forming a -sheet. The initial beta-alpha-beta (a) fold is the most conserved segment of Rossmann folds. As this segment

  7. Antibodies to beta 1 and beta 2 adrenoreceptors in Chagas' disease.

    PubMed Central

    Sterin-Borda, L; Perez Leiros, C; Wald, M; Cremaschi, G; Borda, E

    1988-01-01

    Evidence accumulated over the last decade concerning human and experimental models suggests that an immunopathological mechanism may be involved in the pathogenesis of chronic Chagas' disease. In this paper we demonstrate the existence of two different circulating IgG in chagasic patients which bind with myocardial beta 1 and spleen cell beta 2 adrenoceptors, acting as non-competitive inhibitors. Both chagasic IgG against beta 1 and beta 2 adrenoceptor increased intracellular levels of cAMP that could be blocked by specific beta 1 and beta 2 adrenoceptor antagonists. The specificity for beta 1 and beta 2 adrenoceptors and the independence of other tissue reactive antibodies was demonstrated by IgG absorption with turkey red blood cell (TRBC), human lymphocytes (HL) or guinea pig red blood cells (GPRBC). The F(ab')2 fraction acted similarly. This supports the specificity of beta 1 and beta 2 adrenoceptors to the chagasic IgG and the independence of the other tissue reactive antibodies, such as EVI system. The probable pathogenic role of both beta 1 and beta 2 adrenergic chagasic antibody is discussed. PMID:2853016

  8. Pin1 promotes production of Alzheimer's amyloid {beta} from {beta}-cleaved amyloid precursor protein

    SciTech Connect

    Akiyama, Hirotada; Shin, Ryong-Woon; Uchida, Chiyoko; Kitamoto, Tetsuyuki; Uchida, Takafumi . E-mail: uchidat@cir.tohoku.ac.jp

    2005-10-21

    Here we show that prolyl isomerase Pin1 is involved in the A{beta} production central to the pathogenesis of Alzheimer's disease. Enzyme immunoassay of brains of the Pin1-deficient mice revealed that production of A{beta}40 and A{beta}42 was lower than that of the wild-type mice, indicating that Pin1 promotes A{beta} production in the brain. GST-Pin1 pull-down and immunoprecipitation assay revealed that Pin1 binds phosphorylated Thr668-Pro of C99. In the Pin1 {sup -/-} MEF transfected with C99, Pin1 co-transfection enhanced the levels of A{beta}40 and A{beta}42 compared to that without Pin1 co-transfection. In COS7 cells transfected with C99, Pin1 co-transfection enhanced the generation of A{beta}40 and A{beta}42, and reduced the expression level of C99, facilitating the C99 turnover. Thus, Pin1 interacts with C99 and promotes its {gamma}-cleavage, generating A{beta}40 and A{beta}42. Further, GSK3 inhibitor lithium blocked Pin1 binding to C99 by decreasing Thr668 phosphorylation and attenuated A{beta} generation, explaining the inhibitory effect of lithium on A{beta} generation.

  9. Comparison of two beta-glucosidases for the enzymatic synthesis of beta-(1-6)-beta-(1-3)-gluco-oligosaccharides.

    PubMed

    Smaali, M Issam; Michaud, Nicolas; Marzouki, Nejib; Legoy, Marie Dominique; Maugard, Thierry

    2004-04-01

    A domain of epiglucan was synthesized by beta-glucosidases. Two beta-glucosidases, an extracellular beta-glucosidase derived from Sclerotinia sclerotiorum grown on xylose, and a commercial lyophilized preparation of beta-glucosidase from Aspergillus niger, were used to synthesize gluco-oligosaccharides from cellobiose and, specially, beta-(1-6) branched beta-(1-3) gluco-oligosaccharides, corresponding to the structure of epiglucan. Gentiobiose, cellotriose, cellotetraose, beta-Glc-(1-3)-beta-Glc-(1-4)-Glc, beta-Glc-(1-6)-beta-Glc-(1-4)-Glc and beta-Glc-(1-6)-beta-Glc-(1-3)-Glc were synthesized from cellobiose by both enzymes. The latter compound was preferentially synthesized by the beta-glycosidase from Sclerotinia sclerotiorum. Under the best conditions, only 7 g l(-1) of beta-Glc-(1-6)-beta-Glc-(1-3)-Glc was synthesized by the beta-glycosidase from Aspergillus niger compared to 20 g l(-1) synthesized with beta-glycosidase from Sclerotinia sclerotiorum. PMID:15200180

  10. Quantitative Trait Loci for Morphological Traits and their Association with Functional Genes in Raphanus sativus

    PubMed Central

    Yu, Xiaona; Choi, Su Ryun; Dhandapani, Vignesh; Rameneni, Jana Jeevan; Li, Xiaonan; Pang, Wenxing; Lee, Ji-Young; Lim, Yong Pyo

    2016-01-01

    Identification of quantitative trait loci (QTLs) governing morphologically important traits enables to comprehend their potential genetic mechanisms in the genetic breeding program. In this study, we used 210 F2 populations derived from a cross between two radish inbred lines (Raphanus sativus) “835” and “B2,” including 258 SSR markers were used to detect QTLs for 11 morphological traits that related to whole plant, leaf, and root yield in 3 years of replicated field test. Total 55 QTLs were detected which were distributed on each linkage group of the Raphanus genome. Individual QTLs accounted for 2.69–12.6 of the LOD value, and 0.82–16.25% of phenotypic variation. Several genomic regions have multiple traits that clustered together, suggested the existence of pleiotropy linkage. Synteny analysis of the QTL regions with A. thaliana genome selected orthologous genes in radish. InDels and SNPs in the parental lines were detected in those regions by Illumina genome sequence. Five identified candidate gene-based markers were validated by co-mapping with underlying QTLs affecting different traits. Semi-quantitative reverse transcriptase PCR analysis showed the different expression levels of these five genes in parental lines. In addition, comparative QTL analysis with B. rapa revealed six common QTL regions and four key major evolutionarily conserved crucifer blocks (J, U, R, and W) harboring QTL for morphological traits. The QTL positions identified in this study will provide a valuable resource for identifying more functional genes when whole radish genome sequence is released. Candidate genes identified in this study that co-localized in QTL regions are expected to facilitate in radish breeding programs. PMID:26973691

  11. Hierarchical traits distances explain grassland Fabaceae species' ecological niches distances

    PubMed Central

    Fort, Florian; Jouany, Claire; Cruz, Pablo

    2015-01-01

    Fabaceae species play a key role in ecosystem functioning through their capacity to fix atmospheric nitrogen via their symbiosis with Rhizobium bacteria. To increase benefits of using Fabaceae in agricultural systems, it is necessary to find ways to evaluate species or genotypes having potential adaptations to sub-optimal growth conditions. We evaluated the relevance of phylogenetic distance, absolute trait distance and hierarchical trait distance for comparing the adaptation of 13 grassland Fabaceae species to different habitats, i.e., ecological niches. We measured a wide range of functional traits (root traits, leaf traits, and whole plant traits) in these species. Species phylogenetic and ecological distances were assessed from a species-level phylogenetic tree and species' ecological indicator values, respectively. We demonstrated that differences in ecological niches between grassland Fabaceae species were related more to their hierarchical trait distances than to their phylogenetic distances. We showed that grassland Fabaceae functional traits tend to converge among species with the same ecological requirements. Species with acquisitive root strategies (thin roots, shallow root systems) are competitive species adapted to non-stressful meadows, while conservative ones (coarse roots, deep root systems) are able to tolerate stressful continental climates. In contrast, acquisitive species appeared to be able to tolerate low soil-P availability, while conservative ones need high P availability. Finally we highlight that traits converge along the ecological gradient, providing the assumption that species with similar root-trait values are better able to coexist, regardless of their phylogenetic distance. PMID:25741353

  12. Plasticity Regulators Modulate Specific Root Traits in Discrete Nitrogen Environments

    PubMed Central

    Gifford, Miriam L.; Banta, Joshua A.; Katari, Manpreet S.; Hulsmans, Jo; Chen, Lisa; Ristova, Daniela; Tranchina, Daniel; Purugganan, Michael D.; Coruzzi, Gloria M.; Birnbaum, Kenneth D.

    2013-01-01

    Plant development is remarkably plastic but how precisely can the plant customize its form to specific environments? When the plant adjusts its development to different environments, related traits can change in a coordinated fashion, such that two traits co-vary across many genotypes. Alternatively, traits can vary independently, such that a change in one trait has little predictive value for the change in a second trait. To characterize such tunability in developmental plasticity, we carried out a detailed phenotypic characterization of complex root traits among 96 accessions of the model Arabidopsis thaliana in two nitrogen environments. The results revealed a surprising level of independence in the control of traits to environment a highly tunable form of plasticity. We mapped genetic architecture of plasticity using genome-wide association studies and further used gene expression analysis to narrow down gene candidates in mapped regions. Mutants in genes implicated by association and expression analysis showed precise defects in the predicted traits in the predicted environment, corroborating the independent control of plasticity traits. The overall results suggest that there is a pool of genetic variability in plants that controls traits in specific environments, with opportunity to tune crop plants to a given environment. PMID:24039603

  13. Association mapping for morphological and physiological traits in Populus simonii

    PubMed Central

    2014-01-01

    Background To optimize marker-assisted selection programs, knowledge of the genetic architecture of phenotypic traits is very important for breeders. Generally, most phenotypes, e.g. morphological and physiological traits, are quantitatively inherited, and thus detection of the genes underlying variation for these traits is difficult. Association mapping based on linkage disequilibrium has recently become a powerful approach to map genes or quantitative trait loci (QTL) in plants. Results In this study, association analysis using 20 simple sequence repeat (SSR) markers was performed to detect the marker loci linked to 13 morphological traits and 10 physiological traits in a wild P. simonii population that consisted of 528 individuals sampled from 16 sites along the Yellow River in China. Based on a model controlling for both population structure (Q) and relative kinship (K), three SSR markers (GCPM_616-1 in 31.2 Mb on LG I, GCPM_4055-2 in 5.7 Mb on LG XV, and GCPM_3142 of unknown location) were identified for seven traits. GCPM_616-1 was associated with five morphological traits (R2 = 5.14-10.09%), whereas GCPM_3142 (15.03%) and GCPM_4055-2 (13.26%) were associated with one morphological trait and one physiological trait, respectively. Conclusions The results suggest that this wild population is suitable for association mapping and the identified markers will be suitable for marker-assisted selection breeding or detection of target genes or QTL in the near future. PMID:25079290

  14. Hierarchical traits distances explain grassland Fabaceae species' ecological niches distances.

    PubMed

    Fort, Florian; Jouany, Claire; Cruz, Pablo

    2015-01-01

    Fabaceae species play a key role in ecosystem functioning through their capacity to fix atmospheric nitrogen via their symbiosis with Rhizobium bacteria. To increase benefits of using Fabaceae in agricultural systems, it is necessary to find ways to evaluate species or genotypes having potential adaptations to sub-optimal growth conditions. We evaluated the relevance of phylogenetic distance, absolute trait distance and hierarchical trait distance for comparing the adaptation of 13 grassland Fabaceae species to different habitats, i.e., ecological niches. We measured a wide range of functional traits (root traits, leaf traits, and whole plant traits) in these species. Species phylogenetic and ecological distances were assessed from a species-level phylogenetic tree and species' ecological indicator values, respectively. We demonstrated that differences in ecological niches between grassland Fabaceae species were related more to their hierarchical trait distances than to their phylogenetic distances. We showed that grassland Fabaceae functional traits tend to converge among species with the same ecological requirements. Species with acquisitive root strategies (thin roots, shallow root systems) are competitive species adapted to non-stressful meadows, while conservative ones (coarse roots, deep root systems) are able to tolerate stressful continental climates. In contrast, acquisitive species appeared to be able to tolerate low soil-P availability, while conservative ones need high P availability. Finally we highlight that traits converge along the ecological gradient, providing the assumption that species with similar root-trait values are better able to coexist, regardless of their phylogenetic distance. PMID:25741353

  15. Estimation of genetic parameters for reproductive traits in alpacas.

    PubMed

    Cruz, A; Cervantes, I; Burgos, A; Morante, R; Gutiérrez, J P

    2015-12-01

    One of the main deficiencies affecting animal breeding programs in Peruvian alpacas is the low reproductive performance leading to low number of animals available to select from, decreasing strongly the selection intensity. Some reproductive traits could be improved by artificial selection, but very few information about genetic parameters exists for these traits in this specie. The aim of this study was to estimate genetic parameters for six reproductive traits in alpacas both in Suri (SU) and Huacaya (HU) ecotypes, as well as their genetic relationship with fiber and morphological traits. Dataset belonging to Pacomarca experimental farm collected between 2000 and 2014 was used. Number of records for age at first service (AFS), age at first calving (AFC), copulation time (CT), pregnancy diagnosis (PD), gestation length (GL), and calving interval (CI) were, respectively, 1704, 854, 19,770, 5874, 4290 and 934. Pedigree consisted of 7742 animals. Regarding reproductive traits, model of analysis included additive and residual random effects for all traits, and also permanent environmental effect for CT, PD, GL and CI traits, with color and year of recording as fixed effects for all the reproductive traits and also age at mating and sex of calf for GL trait. Estimated heritabilities, respectively for HU and SU were 0.19 and 0.09 for AFS, 0.45 and 0.59 for AFC, 0.04 and 0.05 for CT, 0.07 and 0.05 for PD, 0.12 and 0.20 for GL, and 0.14 and 0.09 for CI. Genetic correlations between them ranged from -0.96 to 0.70. No important genetic correlations were found between reproductive traits and fiber or morphological traits in HU. However, some moderate favorable genetic correlations were found between reproductive and either fiber and morphological traits in SU. According to estimated genetic correlations, some reproductive traits might be included as additional selection criteria in HU. PMID:26490188

  16. Root traits contributing to plant productivity under drought

    PubMed Central

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

    2013-01-01

    Geneticists and breeders are positioned to breed plants with root traits that improve productivity under drought. However, a better understanding of root functional traits and how traits are related to whole plant strategies to increase crop productivity under different drought conditions is needed. Root traits associated with maintaining plant productivity under drought include small fine root diameters, long specific root length, and considerable root length density, especially at depths in soil with available water. In environments with late season water deficits, small xylem diameters in targeted seminal roots save soil water deep in the soil profile for use during crop maturation and result in improved yields. Capacity for deep root growth and large xylem diameters in deep roots may also improve root acquisition of water when ample water at depth is available. Xylem pit anatomy that makes xylem less “leaky” and prone to cavitation warrants further exploration holding promise that such traits may improve plant productivity in water-limited environments without negatively impacting yield under adequate water conditions. Rapid resumption of root growth following soil rewetting may improve plant productivity under episodic drought. Genetic control of many of these traits through breeding appears feasible. Several recent reviews have covered methods for screening root traits but an appreciation for the complexity of root systems (e.g., functional differences between fine and coarse roots) needs to be paired with these methods to successfully identify relevant traits for crop improvement. Screening of root traits at early stages in plant development can proxy traits at mature stages but verification is needed on a case by case basis that traits are linked to increased crop productivity under drought. Examples in lesquerella (Physaria) and rice (Oryza) show approaches to phenotyping of root traits and current understanding of root trait genetics for breeding. PMID:24204374

  17. Beta-agonists and animal welfare

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The use of beta-agonists in animal feed is a high profile topic within the U.S. as consumers and activist groups continue to question its safety. The only beta-agonist currently available for use in swine is ractopamine hydrochloride (RAC). This is available as Paylean™ (Elanco Animal Health – FDA a...

  18. Beta maritima: the Origin of Beets

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Along the undisturbed shores, especially of the Mediterranean Sea and the European North Atlantic Ocean, is a widespread plant called Beta maritima (Beta vulgaris subspecies maritima) by the botanists, or more commonly sea beet. Nothing for the inexperienced observer's eye distinguishes it from surr...

  19. DREAM: Research to Operations Beta

    NASA Astrophysics Data System (ADS)

    Friedel, Reiner; Reeves, Geoffrey; Zaharia, Sorin; Koller, Josef; Chen, Yue; Henderson, Mike; Thomsen, Davis

    The Dynamic Radiation Environment Assimilation Model (DREAM) is a dataassimilative model of the Earth's radiation belts that has, until recently, been used primarily as a re-search tool to understand radiation belt dynamics and to develop Kalman filter techniques for application to magnetospheric modeling. More recently, the emphasis of the DREAM program has shifted toward implementation of an operational prototype for testing and validation at the Air Force Research Laboratory's (AFRL) Space Weather Forecast Laboratory (SWFL) and NASA's Community Coordinated Modeling Center (CCMC). The transition has required significant effort, funding, and shifting of priorities that serve as a recent example of the oppor-tunities and challenges of transitioning a model from research to operations (R2O). DREAM is still in the early stages of transition to operations but we do not see any significant obstacles to success. We present here the BETA version of this model, operating in real-time, using GOES energetic particle data as input.

  20. PBX: the Princeton beta experiment

    SciTech Connect

    Bol, K.; Chance, M.; Dewar, R.

    1983-09-01

    A rearrangement of the divertor coils in PDX will enable a test in 1984 of the MHD stability properties of deeply indented bean-shaped plasmas. The goal is a beta of 10%. Indentation is expected to counter the deterioration of MHD stability against pressure driven modes that is occasioned by the larger aspect ratios typical of anticipated reactor oriented devices. Indeed, as shown by M. Chance et al., indentation may offer direct access to the second region of stability for ballooning modes, and numerical analyses with PEST show the internal kink to be stabilized completely with even relatively modest indentation. The internal kink is implicated in the loss of beam ions in PDX. In this report the theoretical basis for the forthcoming experiment, and the design considerations underlying the modification from PDX to PBX, are described in detail. Additional theoretical material, including an analysis of particle orbits in an indented tokamak plasma, is appended.

  1. NEXT: double beta decay experiment

    NASA Astrophysics Data System (ADS)

    Sànchez, F.; NEXT Collaboration

    2009-03-01

    The discovery of neutrino oscillation has reactivated the search of the elusive neutrino-less double beta decays ( ββ0 ν). The goal of the next generation of experiments is to cover values of effective neutrino mas down to 20meV, the so-called inverse hierarchy region. Several experiments are looking for this disintegration using different techniques. The challenges of these experiments are an excellent energy resolution and large background rejection factor. The Xenon is naturally enriched with ββ0 ν candidate emitter, 136Xe, and shows excellent energy resolution when used as a calorimeter. In gaseous phase, the electrons can be tracked reducing considerable external backgrounds. The NEXT collaboration is designing a pressurized gaseous enriched Xenon detector of about 100 kg to be operated at the Canfranc Underground Laboratory in Huesca (Spain).

  2. The chromosphere of Beta Cassiopeiae

    SciTech Connect

    Teays, T.J.; Schmidt, E.G.; Pasinetti Fracassini, L.E.; Fracassini, M.; Milano Universita, Milan )

    1989-08-01

    High-resolution, long-wavelength IUE observations and ground-based photometry of the Delta Scuti star Beta Cas is reported. The ground-based observations were used together with previous results of Antonello et al. (1986) to ensure that the IUE observations were correctly phased relative to the photometric variation. Fluxes for the emission core of the Mg II k 2796-A line were obtained from the UV spectra over several cycles in 1986 and 1987. It is found that there is an increase in the emission during part of the cycle, but it occurs near minimum light in contrast to another Delta Scuti star, Rho Pup, and the classical Cepheids (where it occurs near maximum light). The mean level of chromospheric activity is comparable to other early F dwarfs. 16 refs.

  3. The chromosphere of Beta Cassiopeiae

    NASA Technical Reports Server (NTRS)

    Teays, Terry J.; Schmidt, Edward G.; Pasinetti Fracassini, Laura E.; Fracassini, Massimo

    1989-01-01

    High-resolution, long-wavelength IUE observations and ground-based photometry of the Delta Scuti star Beta Cas is reported. The ground-based observations were used together with previous results of Antonello et al. (1986) to ensure that the IUE observations were correctly phased relative to the photometric variation. Fluxes for the emission core of the Mg II k 2796-A line were obtained from the UV spectra over several cycles in 1986 and 1987. It is found that there is an increase in the emission during part of the cycle, but it occurs near minimum light in contrast to another Delta Scuti star, Rho Pup, and the classical Cepheids (where it occurs near maximum light). The mean level of chromospheric activity is comparable to other early F dwarfs.

  4. Gamma-ray blind beta particle probe

    DOEpatents

    Weisenberger, Andrew G. (Grafton, VA)

    2001-01-01

    An intra-operative beta particle probe is provided by placing a suitable photomultiplier tube (PMT), micro channel plate (MCP) or other electron multiplier device within a vacuum housing equipped with: 1) an appropriate beta particle permeable window; and 2) electron detection circuitry. Beta particles emitted in the immediate vicinity of the probe window will be received by the electron multiplier device and amplified to produce a detectable signal. Such a device is useful as a gamma insensitive, intra-operative, beta particle probe in surgeries where the patient has been injected with a beta emitting radiopharmaceutical. The method of use of such a device is also described, as is a position sensitive such device.

  5. Beta Cell Dysfunction and Insulin Resistance

    PubMed Central

    Cerf, Marlon E.

    2013-01-01

    Beta cell dysfunction and insulin resistance are inherently complex with their interrelation for triggering the pathogenesis of diabetes also somewhat undefined. Both pathogenic states induce hyperglycemia and therefore increase insulin demand. Beta cell dysfunction results from inadequate glucose sensing to stimulate insulin secretion therefore elevated glucose concentrations prevail. Persistently elevated glucose concentrations above the physiological range result in the manifestation of hyperglycemia. With systemic insulin resistance, insulin signaling within glucose recipient tissues is defective therefore hyperglycemia perseveres. Beta cell dysfunction supersedes insulin resistance in inducing diabetes. Both pathological states influence each other and presumably synergistically exacerbate diabetes. Preserving beta cell function and insulin signaling in beta cells and insulin signaling in the glucose recipient tissues will maintain glucose homeostasis. PMID:23542897

  6. Simultaneous beta/gamma digital spectroscopy

    NASA Astrophysics Data System (ADS)

    Farsoni, Abdollah T.

    A state-of-the-art radiation detection system for simultaneous spectroscopy of beta-particles and gamma-rays has been developed. The system utilizes a triple-layer phoswich detector and a customized Digital Pulse Processor (DPP) built in our laboratory. The DPP board was designed to digitally capture the analog signal pulses and, following several digital preprocessing steps, transfer valid pulses to the host computer for further digital processing. A MATLAB algorithm was developed to digitally discriminate beta and gamma events and reconstruct separate beta and gamma-ray energy spectra with minimum crosstalk. The spectrometer proved to be an effective tool for recording separate beta and gamma-ray spectra from mixed radiation fields. The system as a beta-gamma spectrometer will have broad-ranging applications in nuclear non-proliferation, radioactive waste management, worker safety, systems reliability, dose assessment, and risk analysis.

  7. Process for reducing beta activity in uranium

    DOEpatents

    Briggs, G.G.; Kato, T.R.; Schonegg, E.

    1985-04-11

    This invention is a method for lowering the beta radiation hazards associated with the casting of uranium. The method reduces the beta radiation emitted from the as-cast surfaces of uranium ingots. The method also reduces the amount of beta radiation emitters retained on the interiors of the crucibles that have been used to melt the uranium charges and which undergone cleaning in a remote handling facility. The lowering of the radioactivity is done by scavenging the beta emitters from the molten uranium with a molten mixture containing the fluorides of magnesium and calcium. The method provides a means of collection and disposal of the beta emitters in a manner that reduces radiation exposure to operating personnel in the work area where the ingots are cast and processed. 5 tabs.

  8. Process for reducing beta activity in uranium

    DOEpatents

    Briggs, Gifford G. (Cincinnatti, OH); Kato, Takeo R. (Cincinnatti, OH); Schonegg, Edward (Cleves, OH)

    1986-01-01

    This invention is a method for lowering the beta radiation hazards associated with the casting of uranium. The method reduces the beta radiation emitted from the as-cast surfaces of uranium ingots. The method also reduces the amount of beta radiation emitters retained on the interiors of the crucibles that have been used to melt the uranium charges and which have undergone cleaning in a remote handling facility. The lowering of the radioactivity is done by scavenging the beta emitters from the molten uranium with a molten mixture containing the fluorides of magnesium and calcium. The method provides a means of collection and disposal of the beta emitters in a manner that reduces radiation exposure to operating personnel in the work area where the ingots are cast and processed.

  9. Effect of finite. beta. on stellarator transport

    SciTech Connect

    Mynick, H.E.

    1984-04-01

    A theory of the modification of stellarator transport due to the presence of finite plasma pressure is developed, and applied to a range of stellarator configurations. For many configurations of interest, plasma transport can change by more than an order of magnitude in the progression from zero pressure to the equilibrium ..beta.. limit of the device. Thus, a stellarator with transport-optimized vacuum fields can have poor confinement at the desired operating ..beta... Without an external compensating field, increasing ..beta.. tends to degrade confinement, unless the initial field structure is very carefully chosen. The theory permits one to correctly determine this vacuum structure, in terms of the desired structure of the field at a prescribed operating ..beta... With a compensating external field, the deleterious effect of finite ..beta.. on transport can be partially eliminated.

  10. Impaired growth of pancreatic exocrine cells in transgenic mice expressing human activin {beta}E subunit

    SciTech Connect

    Hashimoto, Osamu . E-mail: ohashim@vmas.kitasato-u.ac.jp; Ushiro, Yuuki; Sekiyama, Kazunari; Yamaguchi, Osamu; Yoshioka, Kazuki; Mutoh, Ken-Ichiro; Hasegawa, Yoshihisa

    2006-03-10

    Activins, TGF-{beta} superfamily members, have multiple functions in a variety of cells and tissues. Recently, additional activin {beta} subunit genes, {beta}C and {beta}E, have been identified. To explore the role of activin E, we created transgenic mice overexpressing human activin {beta}E subunit. There were pronounced differences in the pancreata of the transgenic animals as compared with their wild-type counterparts. Pancreatic weight, expressed relative to total body weight, was significantly reduced. Histologically, adipose replacement of acini in the exocrine pancreas was observed. There was a significant decrease in the number of PCNA-positive cells in the acinar cells, indicating reduced proliferation in the exocrine pancreas of the transgenic mice. However, quantitative pancreatic morphometry showed that the total number and mass of the islets of the transgenic mice were comparable with those of the nontransgenic control mice. Our findings suggest a role for activin E in regulating the proliferation of pancreatic exocrine cells.

  11. Genetics Home Reference: Dopamine beta-hydroxylase deficiency

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Dopamine beta-hydroxylase deficiency On this page: Description Genetic ... names Glossary definitions Reviewed September 2008 What is dopamine beta-hydroxylase deficiency? Dopamine beta (?)-hydroxylase deficiency ...

  12. Genetics Home Reference: Dopamine beta-hydroxylase deficiency

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Dopamine beta-hydroxylase deficiency On this page: Description Genetic ... names Glossary definitions Reviewed September 2008 What is dopamine beta-hydroxylase deficiency? Dopamine beta (β)-hydroxylase deficiency ...

  13. Effects of bacteriophage traits on plaque formation

    PubMed Central

    2011-01-01

    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. PMID:21827665

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

    PubMed Central

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

    2014-01-01

    Obesity in human populations, currently a serious health concern, is considered to be the consequence of an energy imbalance in which more energy in calories is consumed than is expended. We used interval mapping techniques to investigate the genetic basis of a number of energy balance traits in an F11 advanced intercross population of mice created from an original intercross of lines selected for increased and decreased heat loss. We uncovered a total of 137 quantitative trait loci (QTLs) for these traits at 41 unique sites on 18 of the 20 chromosomes in the mouse genome, with X-linked QTLs being most prevalent. Two QTLs were found for the selection target of heat loss, one on distal chromosome 1 and another on proximal chromosome 2. The number of QTLs affecting the various traits generally was consistent with previous estimates of heritabilities in the same population, with the most found for two bone mineral traits and the least for feed intake and several body composition traits. QTLs were generally additive in their effects, and some, especially those affecting the body weight traits, were sex-specific. Pleiotropy was extensive within trait groups (body weights, adiposity and organ weight traits, bone traits) and especially between body composition traits adjusted and not adjusted for body weight at sacrifice. Nine QTLs were found for one or more of the adiposity traits, five of which appeared to be unique. The confidence intervals among all QTLs averaged 13.3 Mb, much smaller than usually observed in an F2 cross, and in some cases this allowed us to make reasonable inferences about candidate genes underlying these QTLs. This study combined QTL mapping with genetic parameter analysis in a large segregating population, and has advanced our understanding of the genetic architecture of complex traits related to obesity. PMID:24918027

  15. Regulatory polymorphisms underlying complex disease traits.

    PubMed

    Knight, Julian C

    2005-02-01

    There is growing evidence that genetic variation plays an important role in the determination of individual susceptibility to complex disease traits. In contrast to coding sequence polymorphisms, where the consequences of non-synonymous variation may be resolved at the level of the protein phenotype, defining specific functional regulatory polymorphisms has proved problematic. This has arisen for a number of reasons, including difficulties with fine mapping due to linkage disequilibrium, together with a paucity of experimental tools to resolve the effects of non-coding sequence variation on gene expression. Recent studies have shown that variation in gene expression is heritable and can be mapped as a quantitative trait. Allele-specific effects on gene expression appear relatively common, typically of modest magnitude and context specific. The role of regulatory polymorphisms in determining susceptibility to a number of complex disease traits is discussed, including variation at the VNTR of INS, encoding insulin, in type 1 diabetes and polymorphism of CTLA4, encoding cytotoxic T lymphocyte antigen, in autoimmune disease. Examples where regulatory polymorphisms have been found to play a role in mongenic traits such as factor VII deficiency are discussed, and contrasted with those polymorphisms associated with ischaemic heart disease at the same gene locus. Molecular mechanisms operating in an allele-specific manner at the level of transcription are illustrated, with examples including the role of Duffy binding protein in malaria. The difficulty of resolving specific functional regulatory variants arising from linkage disequilibrium is demonstrated using a number of examples including polymorphism of CCR5, encoding CC chemokine receptor 5, and HIV-1 infection. The importance of understanding haplotypic structure to the design and interpretation of functional assays of putative regulatory variation is highlighted, together with discussion of the strategic use of experimental tools to resolve regulatory polymorphisms at a transcriptional level. A number of examples are discussed including work on the TNF locus which demonstrate biological and experimental context specificity. Regulatory variation may also operate at other levels of control of gene expression and the modulation of splicing at PTPRC, encoding protein tyrosine phosphatase receptor-type C, and of translational efficiency at F12, encoding factor XII, are discussed. PMID:15592805

  16. First impressions: gait cues drive reliable trait judgements.

    PubMed

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

    2012-09-01

    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

  17. Ethnicity, sex, trait anger, and nocturnal blood pressure decline.

    PubMed

    Bishop, George D; Pek, Jolynn; Ngau, Francis

    2005-05-01

    This study examined the relationship of trait anger to nocturnal blood pressure decline among Singaporean young adults. One hundred forty-nine participants (51 Chinese, 51 Malays, 47 Indians, 49.7% men) participated in 24-h ambulatory monitoring for blood pressure and hemodynamic measures. Significant interactions were obtained between ethnicity and trait anger for systolic blood pressure and mean arterial pressure such that trait anger was significantly and negatively related to nocturnal blood pressure decline for Indians whereas this was not true for Chinese or Malays. Significant sex x trait anger interactions were obtained for systolic blood pressure, diastolic blood pressure, and mean arterial pressure in which trait anger was negatively related to blood pressure decline for men but not for women. Overall the results suggest that trait anger is a significant factor affecting nocturnal blood pressure decline particularly among Indians and men. PMID:15943683

  18. Plant Thermoregulation: Energetics, Trait-Environment Interactions, and Carbon Economics.

    PubMed

    Michaletz, Sean T; Weiser, Michael D; Zhou, Jizhong; Kaspari, Michael; Helliker, Brent R; Enquist, Brian J

    2015-12-01

    Building a more predictive trait-based ecology requires mechanistic theory based on first principles. We present a general theoretical approach to link traits and climate. We use plant leaves to show how energy budgets (i) provide a foundation for understanding thermoregulation, (ii) explain mechanisms driving trait variation across environmental gradients, and (iii) guide selection on functional traits via carbon economics. Although plants are often considered to be poikilotherms, the data suggest that they are instead limited homeotherms. Leaf functional traits that promote limited homeothermy are adaptive because homeothermy maximizes instantaneous and lifetime carbon gain. This theory provides a process-based foundation for trait-climate analyses and shows that future studies should consider plant (not only air) temperatures. PMID:26476814

  19. Genetic linkage and association analysis of COPD-related traits on chromosome 8p.

    PubMed

    Hersh, Craig P; DeMeo, Dawn L; Raby, Benjamin A; Litonjua, Augusto A; Sylvia, Jody S; Sparrow, David; Reilly, John J; Silverman, Edwin K

    2006-12-01

    Genome-wide linkage analysis in the Boston Early-Onset Chronic Obstructive Pulmonary Disease (COPD) Study has demonstrated significant evidence of linkage to chromosome 8p for forced expiratory volume in 1 second, an important COPD-related phenotype. In this study, we sought to fine map the linkage peak and to test variants in two candidate genes for association with COPD and related traits. In a variance component linkage analysis on chromosome 8, including seven additional short tandem repeat markers, the logarithm of the odds of linkage score was reduced from 3.30 to 1.80 (at 1 cM). Five single nucleotide polymorphisms (SNPs) in Defensin Beta-1 (DEFB1) were genotyped in the Boston Early-Onset COPD Study families; none was significantly associated. Four SNPs and an insertion-deletion polymorphism in Macrophage Scavenger Receptor-1 (MSR1) were also genotyped in the family-based study. A coding variant (Pro275Ala) was marginally associated with two qualitative airflow obstruction traits (p < or = 0.02). This SNP showed a trend toward association in a case-control study comparing participants in the National Emphysema Treatment Trial to smoker controls (p = 0.07). Despite the reduced support for linkage upon further analysis, it remains possible that chromosome 8p contains a gene that influences COPD susceptibility. There is marginal, though not convincing, evidence for association with MSR1. PMID:17361499

  20. Relationships between phyllosphere bacterial communities and plant functional traits in a neotropical forest.

    PubMed

    Kembel, Steven W; O'Connor, Timothy K; Arnold, Holly K; Hubbell, Stephen P; Wright, S Joseph; Green, Jessica L

    2014-09-23

    The phyllosphere--the aerial surfaces of plants, including leaves--is a ubiquitous global habitat that harbors diverse bacterial communities. Phyllosphere bacterial communities have the potential to influence plant biogeography and ecosystem function through their influence on the fitness and function of their hosts, but the host attributes that drive community assembly in the phyllosphere are poorly understood. In this study we used high-throughput sequencing to quantify bacterial community structure on the leaves of 57 tree species in a neotropical forest in Panama. We tested for relationships between bacterial communities on tree leaves and the functional traits, taxonomy, and phylogeny of their plant hosts. Bacterial communities on tropical tree leaves were diverse; leaves from individual trees were host to more than 400 bacterial taxa. Bacterial communities in the phyllosphere were dominated by a core microbiome of taxa including Actinobacteria, Alpha-, Beta-, and Gammaproteobacteria, and Sphingobacteria. Host attributes including plant taxonomic identity, phylogeny, growth and mortality rates, wood density, leaf mass per area, and leaf nitrogen and phosphorous concentrations were correlated with bacterial community structure on leaves. The relative abundances of several bacterial taxa were correlated with suites of host plant traits related to major axes of plant trait variation, including the leaf economics spectrum and the wood density-growth/mortality tradeoff. These correlations between phyllosphere bacterial diversity and host growth, mortality, and function suggest that incorporating information on plant-microbe associations will improve our ability to understand plant functional biogeography and the drivers of variation in plant and ecosystem function. PMID:25225376

  1. Relationships between phyllosphere bacterial communities and plant functional traits in a neotropical forest

    PubMed Central

    Kembel, Steven W.; O’Connor, Timothy K.; Arnold, Holly K.; Hubbell, Stephen P.; Wright, S. Joseph; Green, Jessica L.

    2014-01-01

    The phyllosphere—the aerial surfaces of plants, including leaves—is a ubiquitous global habitat that harbors diverse bacterial communities. Phyllosphere bacterial communities have the potential to influence plant biogeography and ecosystem function through their influence on the fitness and function of their hosts, but the host attributes that drive community assembly in the phyllosphere are poorly understood. In this study we used high-throughput sequencing to quantify bacterial community structure on the leaves of 57 tree species in a neotropical forest in Panama. We tested for relationships between bacterial communities on tree leaves and the functional traits, taxonomy, and phylogeny of their plant hosts. Bacterial communities on tropical tree leaves were diverse; leaves from individual trees were host to more than 400 bacterial taxa. Bacterial communities in the phyllosphere were dominated by a core microbiome of taxa including Actinobacteria, Alpha-, Beta-, and Gammaproteobacteria, and Sphingobacteria. Host attributes including plant taxonomic identity, phylogeny, growth and mortality rates, wood density, leaf mass per area, and leaf nitrogen and phosphorous concentrations were correlated with bacterial community structure on leaves. The relative abundances of several bacterial taxa were correlated with suites of host plant traits related to major axes of plant trait variation, including the leaf economics spectrum and the wood density–growth/mortality tradeoff. These correlations between phyllosphere bacterial diversity and host growth, mortality, and function suggest that incorporating information on plant–microbe associations will improve our ability to understand plant functional biogeography and the drivers of variation in plant and ecosystem function. PMID:25225376

  2. Integrating Taxonomic, Functional and Phylogenetic Beta Diversities: Interactive Effects with the Biome and Land Use across Taxa

    PubMed Central

    Corbelli, Julian Martin; Zurita, Gustavo Andres; Filloy, Julieta; Galvis, Juan Pablo; Vespa, Natalia Isabel; Bellocq, Isabel

    2015-01-01

    The spatial distribution of species, functional traits and phylogenetic relationships at both the regional and local scales provide complementary approaches to study patterns of biodiversity and help to untangle the mechanisms driving community assembly. Few studies have simultaneously considered the taxonomic (TBD), functional (FBD) and phylogenetic (PBD) facets of beta diversity. Here we analyze the associations between TBD, FBD, and PBD with the biome (representing different regional species pools) and land use, and investigate whether TBD, FBD and PBD were correlated. In the study design we considered two widely used indicator taxa (birds and ants) from two contrasting biomes (subtropical forest and grassland) and land uses (tree plantations and cropfields) in the southern Neotropics. Non-metric multidimensional scaling showed that taxonomic, functional and phylogenetic distances were associated to biome and land use; study sites grouped into four groups on the bi-dimensional space (cropfields in forest and grassland, and tree plantations in forest and grassland), and that was consistent across beta diversity facets and taxa. Mantel and PERMANOVA tests showed that TBD, FBD and PBD were positively correlated for both bird and ant assemblages; in general, partial correlations were also significant. Some of the functional traits considered here were conserved along phylogeny. Our results will contribute to the development of sound land use planning and beta diversity conservation. PMID:25978319

  3. Integrating Taxonomic, Functional and Phylogenetic Beta Diversities: Interactive Effects with the Biome and Land Use across Taxa.

    PubMed

    Corbelli, Julian Martin; Zurita, Gustavo Andres; Filloy, Julieta; Galvis, Juan Pablo; Vespa, Natalia Isabel; Bellocq, Isabel

    2015-01-01

    The spatial distribution of species, functional traits and phylogenetic relationships at both the regional and local scales provide complementary approaches to study patterns of biodiversity and help to untangle the mechanisms driving community assembly. Few studies have simultaneously considered the taxonomic (TBD), functional (FBD) and phylogenetic (PBD) facets of beta diversity. Here we analyze the associations between TBD, FBD, and PBD with the biome (representing different regional species pools) and land use, and investigate whether TBD, FBD and PBD were correlated. In the study design we considered two widely used indicator taxa (birds and ants) from two contrasting biomes (subtropical forest and grassland) and land uses (tree plantations and cropfields) in the southern Neotropics. Non-metric multidimensional scaling showed that taxonomic, functional and phylogenetic distances were associated to biome and land use; study sites grouped into four groups on the bi-dimensional space (cropfields in forest and grassland, and tree plantations in forest and grassland), and that was consistent across beta diversity facets and taxa. Mantel and PERMANOVA tests showed that TBD, FBD and PBD were positively correlated for both bird and ant assemblages; in general, partial correlations were also significant. Some of the functional traits considered here were conserved along phylogeny. Our results will contribute to the development of sound land use planning and beta diversity conservation. PMID:25978319

  4. The nature and identification of quantitative trait loci

    PubMed Central

    2007-01-01

    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? PMID:14634638

  5. Trait emotional intelligence influences on academic achievement and school behaviour.

    PubMed

    Mavroveli, Stella; Sánchez-Ruiz, María José

    2011-03-01

    BACKGROUND. Trait emotional intelligence (trait EI or trait emotional self-efficacy) refers to individuals' emotion-related self-perceptions (Petrides, Furnham, & Mavroveli, 2007). The children's trait EI sampling domain provides comprehensive coverage of their affective personality. Preliminary evidence shows that the construct has important implications for children's psychological and behavioural adjustment. AIMS. This study investigates the associations between trait EI and school outcomes, such as performance in reading, writing, and maths, peer-rated behaviour and social competence, and self-reported bullying behaviours in a sample of primary school children. It also examines whether trait EI scores differentiate between children with and without special educational needs (SEN). SAMPLE. The sample comprised 565 children (274 boys and 286 girls) between the ages of 7 and 12 (M((age)) = 9.12 years, SD= 1.27 years) attending three English state primary schools. METHOD. Pupils completed the Trait Emotional Intelligence Questionnaire-Child Form (TEIQue-CF), the Guess Who peer assessment, the Peer-Victimization Scale, and the Bullying Behaviour Scale. Additional data on achievement and SEN were collected from the school archives. RESULTS. As predicted by trait EI theory, associations between trait EI and academic achievement were modest and limited to Year 3 children. Higher trait EI scores were related to more nominations from peers for prosocial behaviours and fewer nominations for antisocial behaviour as well as lower scores on self-reported bulling behaviours. Furthermore, SEN students scored lower on trait EI compared to students without SEN. CONCLUSIONS. Trait EI holds important and multifaceted implications for the socialization of primary schoolchildren. PMID:21199490

  6. Identifying copepod functional groups from species functional traits

    PubMed Central

    Benedetti, Fabio; Gasparini, Stéphane; Ayata, Sakina-Dorothée

    2016-01-01

    We gathered information on the functional traits of the most representative copepod species in the Mediterranean Sea. Our database includes 191 species described by 7 traits encompassing diverse ecological functions: minimal and maximal body length, trophic group, feeding type, spawning strategy, diel vertical migration and vertical habitat. Cluster analysis in the functional trait space revealed that Mediterranean copepods can be separated into groups with distinct ecological roles. PMID:26811565

  7. Partitioning the impact of environment and spatial structure on alpha and beta components of taxonomic, functional, and phylogenetic diversity in European ants.

    PubMed

    Arnan, Xavier; Cerd, Xim; Retana, Javier

    2015-01-01

    We analyze the relative contribution of environmental and spatial variables to the alpha and beta components of taxonomic (TD), phylogenetic (PD), and functional (FD) diversity in ant communities found along different climate and anthropogenic disturbance gradients across western and central Europe, in order to assess the mechanisms structuring ant biodiversity. To this aim we calculated alpha and beta TD, PD, and FD for 349 ant communities, which included a total of 155 ant species; we examined 10 functional traits and phylogenetic relatedness. Variation partitioning was used to examine how much variation in ant diversity was explained by environmental and spatial variables. Autocorrelation in diversity measures and each trait's phylogenetic signal were also analyzed. We found strong autocorrelation in diversity measures. Both environmental and spatial variables significantly contributed to variation in TD, PD, and FD at both alpha and beta scales; spatial structure had the larger influence. The different facets of diversity showed similar patterns along environmental gradients. Environment explained a much larger percentage of variation in FD than in TD or PD. All traits demonstrated strong phylogenetic signals. Our results indicate that environmental filtering and dispersal limitations structure all types of diversity in ant communities. Strong dispersal limitations appear to have led to clustering of TD, PD, and FD in western and central Europe, probably because different historical and evolutionary processes generated different pools of species. Remarkably, these three facets of diversity showed parallel patterns along environmental gradients. Trait-mediated species sorting and niche conservatism appear to structure ant diversity, as evidenced by the fact that more variation was explained for FD and that all traits had strong phylogenetic signals. Since environmental variables explained much more variation in FD than in PD, functional diversity should be a better indicator of community assembly processes than phylogenetic diversity. PMID:26468433

  8. Overview of new traits and phenotyping strategies in dairy cattle with a focus on functional traits

    Technology Transfer Automated Retrieval System (TEKTRAN)

    For several decades, breeding goals in dairy cattle focused on increased milk production. However, many functional traits have negative genetic correlations with milk yield and reductions in genetic merit for health and fitness have been observed. Herd management has been challenged to compensate fo...

  9. QUANTITATIVE TRAIT LOCI (QTL) ANALYSIS OF CANNING QUALITY TRAITS IN KIDNEY BEAN (PHASEOLUS VULGARIS L)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Canning quality of dry bean (Phaseolus vulgaris L.), of which the degree of splitting (SPLT) and overall appearance (APP) if canned beans are major components, is a complex trait that exhibits quantitative. The objectives of this study were to identify major genes that affect APP and SPLT in kidney...

  10. IDENTIFICATION OF QUANTITATIVE TRAIT LOCI AFFECTING PARASITE INDICATOR TRAITS IN A DOUBLE BACKCROSS POPULATION OF SHEEP.

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The natural genetic variability of the ruminant immune system provides a feasible means to control gastro-intestinal (GI) parasite infection. To initiate explanation of important allelic differences, a genome-wide analysis for quantitative trait loci (QTL) was initiated in a double backcross populat...

  11. Bivariate and Multivariate Associations between Trait Listening Goals and Trait Communicator Preferences

    ERIC Educational Resources Information Center

    Keaton, Shaughan A.; Keteyian, Robert V.; Bodie, Graham D.

    2014-01-01

    This article provides validity evidence for a measure of listening goals by showing theoretically consistent relationships with an existing communication preference questionnaire. Participants (N = 257) were administered trait measures for listening goals and communicator preferences. The four listening goals--relational, task-oriented,

  12. LINKING ROOT TRAITS TO SHOOT TRAITS AND LIFE HISTORY IN 25 TEMPERATE FOREST SPECIES

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Despite their important role in plant carbon budgets and carbon cycling, there is little information available on fine root characteristics of woody species. Comparative approaches were used to examine the roots of 25 diverse species collected from mature forests. Nine root traits were examined that...

  13. DETECTION OF QUANTITATIAVE TRAIT LOCI AFFECTING GROWTH AND REPRODUCTIVE TRAITS IN BOS INDICUS BEEF CATTLE (NELLORE)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The objective of this study was to identify quantitative trait loci of economic importance in purebred Bos indicus beef cattle breed (Nellore). Two half-sib families constituted of 187 (family 1) and 189 (family 2) female sisters, daughters from two distinct bulls, where used. Each parent (F0) was ...

  14. In-silico mapping of quantitative trait loci for lactation-associated traits in inbred mice

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Significant variation exists for fecundity and maternal nurturing ability in inbred mice. Classical gene mapping approaches in mice have identified several quantitative trait loci (QTL) that account for some this variation. Current studies in our laboratory are aimed at identifying QTL genes that un...

  15. Genetic analysis of calving traits by the multi-trait individual animal model.

    PubMed

    Weller, J I; Ezra, E

    2016-01-01

    Five alternative models were applied for analysis of dystocia and stillbirth in first and second parities. Models 1 and 2 were included only to estimate the parameters required for model 4, and models 3 and 5 are included only as comparisons to the model 4 estimates. Variance components were estimated by multi-trait REML, including cows with valid calving records for both parities. For the effects of sire of calf on first and second parities, variance components were estimated including only calvings with the same sire of calf for both parities. All heritabilities for the cow effect were quite low, but higher for dystocia than for stillbirth and higher in first parity. The sire-of-calf heritabilities were higher than the cow effect heritabilities, except for stillbirth in parity 2. Unlike the effect of cow correlations, all sire of calf correlations were >0.6, and the correlations for the same trait in parities 1 and 2 were >0.9. Thus, a multi-trait analysis should yield a significant gain in accuracy with respect to the sire of calf effects for bulls not mated to virgin heifers. A multi-trait individual animal model algorithm was developed for joint analysis of dystocia and stillbirth in first and second parities. Relationships matrices were included both for the effects of cow and sire of calf. In addition, random herd-year-season and fixed sex of calf effects were included in the model. Records were preadjusted for calving month and age. A total of 899,223 Israeli Holstein cows with first calvings since 1985 were included in the complete analysis. Approximate reliabilities were computed for both sire of cow and sire of calf effects. Correlations between these reliabilities and reliabilities obtained by direct inversion of the coefficient matrix for a sire of cow-sire of calf model were all close to 0.99. Phenotypic trends for cows born from 1983 through 2007 were economically unfavorable for dystocia and favorable for stillbirth in both parities. Genetic trends were economically unfavorable for both dystocia and stillbirth in first parity. First-parity sire of calf trends were unfavorable for dystocia, but favorable for stillbirth. All environmental trends were nearly zero. Regressions of evaluations of the complete analysis on a model including only calvings before 2011 were all >0.8. All evaluations met the Interbull Method 3 criterion for unbiasedness. Model 4, which computed genetic evaluations for all animals for all 4 traits accounting for all known relationships and correlations among the traits, is recommended for routine genetic evaluation of calving traits. PMID:26547643

  16. Genetic relationships between detailed reproductive traits and performance traits in Holstein-Friesian dairy cattle.

    PubMed

    Carthy, T R; Ryan, D P; Fitzgerald, A M; Evans, R D; Berry, D P

    2016-02-01

    The objective of the study was to estimate the genetic relationships between detailed reproductive traits derived from ultrasound examination of the reproductive tract and a range of performance traits in Holstein-Friesian dairy cows. The performance traits investigated included calving performance, milk production, somatic cell score (i.e., logarithm transformation of somatic cell count), carcass traits, and body-related linear type traits. Detailed reproductive traits included (1) resumed cyclicity at the time of examination, (2) multiple ovulations, (3) early ovulation, (4) heat detection, (5) ovarian cystic structures, (6) embryo loss, and (7) uterine score, measured on a 1 (little or no fluid with normal tone) to 4 (large quantity of fluid with a flaccid tone) scale, based on the tone of the uterine wall and the quantity of fluid present in the uterus. (Co)variance components were estimated using a repeatability animal linear mixed model. Genetic merit for greater milk, fat, and protein yield was associated with a reduced ability to resume cyclicity postpartum (genetic correlations ranged from -0.25 to -0.15). Higher genetic merit for milk yield was also associated with a greater genetic susceptibility to multiple ovulations. Genetic predisposition to elevated somatic cell score was associated with a decreased likelihood of cyclicity postpartum (genetic correlation of -0.32) and a greater risk of both multiple ovulations (genetic correlation of 0.25) and embryo loss (genetic correlation of 0.32). Greater body condition score was genetically associated with an increased likelihood of resumption of cyclicity postpartum (genetic correlation of 0.52). Genetically heavier, fatter carcasses with better conformation were also associated with an increased likelihood of resumed cyclicity by the time of examination (genetic correlations ranged from 0.24 to 0.41). Genetically heavier carcasses were associated with an inferior uterine score as well as a greater predisposition to embryo loss. Despite the overall antagonistic relationship between reproductive performance and both milk and carcass traits, not all detailed aspects of reproduction performance exhibited an antagonistic relationship. PMID:26709166

  17. Optimized breeding strategies for multiple trait integration: II. Process efficiency in event pyramiding and trait fixation.

    PubMed

    Peng, Ting; Sun, Xiaochun; Mumm, Rita H

    2014-01-01

    Multiple trait integration (MTI) is a multi-step process of converting an elite variety/hybrid for value-added traits (e.g. transgenic events) through backcross breeding. From a breeding standpoint, MTI involves four steps: single event introgression, event pyramiding, trait fixation, and version testing. This study explores the feasibility of marker-aided backcross conversion of a target maize hybrid for 15 transgenic events in the light of the overall goal of MTI of recovering equivalent performance in the finished hybrid conversion along with reliable expression of the value-added traits. Using the results to optimize single event introgression (Peng et al. Optimized breeding strategies for multiple trait integration: I. Minimizing linkage drag in single event introgression. Mol Breed, 2013) which produced single event conversions of recurrent parents (RPs) with ?8cM of residual non-recurrent parent (NRP) germplasm with ~1cM of NRP germplasm in the 20cM regions flanking the event, this study focused on optimizing process efficiency in the second and third steps in MTI: event pyramiding and trait fixation. Using computer simulation and probability theory, we aimed to (1) fit an optimal breeding strategy for pyramiding of eight events into the female RP and seven in the male RP, and (2) identify optimal breeding strategies for trait fixation to create a 'finished' conversion of each RP homozygous for all events. In addition, next-generation seed needs were taken into account for a practical approach to process efficiency. Building on work by Ishii and Yonezawa (Optimization of the marker-based procedures for pyramiding genes from multiple donor lines: I. Schedule of crossing between the donor lines. Crop Sci 47:537-546, 2007a), a symmetric crossing schedule for event pyramiding was devised for stacking eight (seven) events in a given RP. Options for trait fixation breeding strategies considered selfing and doubled haploid approaches to achieve homozygosity as well as seed chipping and tissue sampling approaches to facilitate genotyping. With selfing approaches, two generations of selfing rather than one for trait fixation (i.e. 'F2 enrichment' as per Bonnett et al. in Strategies for efficient implementation of molecular markers in wheat breeding. Mol Breed 15:75-85, 2005) were utilized to eliminate bottlenecking due to extremely low frequencies of desired genotypes in the population. The efficiency indicators such as total number of plants grown across generations, total number of marker data points, total number of generations, number of seeds sampled by seed chipping, number of plants requiring tissue sampling, and number of pollinations (i.e. selfing and crossing) were considered in comparisons of breeding strategies. A breeding strategy involving seed chipping and a two-generation selfing approach (SC+SELF) was determined to be the most efficient breeding strategy in terms of time to market and resource requirements. Doubled haploidy may have limited utility in trait fixation for MTI under the defined breeding scenario. This outcome paves the way for optimizing the last step in the MTI process, version testing, which involves hybridization of female and male RP conversions to create versions of the converted hybrid for performance evaluation and possible commercial release. PMID:24482601

  18. Genotypic variation for drought tolerance in Beta vulgaris.

    PubMed

    Ober, E S; Luterbacher, M C

    2002-06-01

    Insufficient soil moisture during summer months is now the major cause of sugar beet yield losses in the UK. However, selection for increased drought tolerance has not been a breeding priority until recently. Genetic variation for drought tolerance is an essential prerequisite for the development of more stress-tolerant varieties, but commercial sugar beet varieties seem to have similar yield responses to drought. The objective of this study was to assess the degree of genotypic variation for drought tolerance within a wide range of sugar beet germplasm and genebank accessions within Beta. Thirty sugar beet genotypes were screened under field drought conditions, and putative drought tolerant and sensitive lines (in terms of yield reduction in polythene-covered vs. irrigated plots) were identified. Significant genotype x water treatment interactions were found for dry matter yield and relative leaf expansion rate. Genotypic differences for drought susceptibility index were also significant. Differential sensitivity of seedling shoot growth to water deficit was examined by comparing 350 genebank accessions in a simple growth chamber screen. Methods of data management were devised to highlight lines for entry into subsequent field tests. The results of the field and seedling screens indicate that there is variation for tolerance to water deficits within sugar beet and related types, and that there are lines that show greater drought tolerance than selected commercial varieties. Divergent lines showing contrasting behaviour should aid in the identification of key morpho-physiological traits that confer drought tolerance. PMID:12102517

  19. Efficient set tests for the genetic analysis of correlated traits.

    PubMed

    Casale, Francesco Paolo; Rakitsch, Barbara; Lippert, Christoph; Stegle, Oliver

    2015-08-01

    Set tests are a powerful approach for genome-wide association testing between groups of genetic variants and quantitative traits. We describe mtSet (http://github.com/PMBio/limix), a mixed-model approach that enables joint analysis across multiple correlated traits while accounting for population structure and relatedness. mtSet effectively combines the benefits of set tests with multi-trait modeling and is computationally efficient, enabling genetic analysis of large cohorts (up to 500,000 individuals) and multiple traits. PMID:26076425

  20. Evaluating Callous-Unemotional Traits as a Personality Construct.

    PubMed

    Frick, Paul J; Ray, James V

    2015-12-01

    We evaluate the importance of callous-unemotional (CU) traits as a personality construct in isolation from other facets of psychopathy. Specifically, we review research suggesting that these traits are useful for designating a subgroup of youth with serious conduct problems who differ from other antisocial youth on important biological, emotional, cognitive, and social characteristics. In addition, the temperamental features related to CU traits are risk factors for impairments in conscience development in young children. Thus, these traits could advance theoretical models explaining the development of severe antisocial behavior and psychopathy. CU traits also have important clinical utility because they designate a particularly severe and impaired subgroup of antisocial youth, leading to their inclusion in the DSM-5. As a result of this inclusion in diagnostic classification, there has been an increased focus on how to best assess CU traits, and we discuss several key issues in their assessment, highlighting several limitations in existing measures. Finally, the increased use of CU traits, separately from other facets of psychopathy, makes it important to determine how these traits relate to other personality constructs. Thus, we examine how measures of CU traits relate to the broader construct of psychopathy and to other basic personality dimensions. PMID:25039236