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1

Screening of antenatal patients in a multiethnic community for beta thalassaemia trait.  

PubMed Central

An investigation of the reliability of screening tests for beta thalassaemia trait in pregnant women was carried out as part of a programme to predict beta thalassaemia major in the fetus. Women with a mean corpuscular volume (MCV) of less than 83fl were examined further, and the reliability of various red cell indices as screening tests was assessed and compared. Over three years 696 women were found to be microcytic and were investigated further. If no abnormal haemoglobin was found by cellulose acetate electrophoresis at alkaline pH, haemoglobin A2 estimation was performed. Beta thalassaemia trait was diagnosed in 56 (8%) of the microcytic women. Both the MCV and the mean corpuscular haemoglobin (MCH) were found to be suitable screening tests for detecting patients who required further investigation. Women found to have beta thalassaemia trait or a functionally equivalent disorder were of varied ethnic origins. Of 58 such women, partners were investigated in 45 instances, and three pregnancies at risk of beta thalassaemia major were identified. Investigations for beta thalassaemia trait should preferably be carried out before pregnancy but for those already pregnant investigation should be carried out, irrespective of whether the patient seems to be iron deficient. It is advisable that partners of women with beta thalassaemia trait have hemoglobin electrophoresis, whatever their red cell indices, as double heterozygosity for either haemoglobin S or haemoglobin E and beta thalassaemia may produce severe disease. PMID:3384979

Bain, B J

1988-01-01

2

Arthritis in beta thalassaemia trait: clinical and pathological features.  

PubMed Central

A 33-year-old white female of English descent with beta thalassaemia trait developed painful recurring bilateral knee effusion at age 15 years. Trauma was denied. Synovial analyses revealed noninflammatory effusions with normal complement, no inclusions, and no crystals. Knee x-rays normal at ages 18 and 26, showed mild osteoarthritic changes at age 33. Laboratory tests for other known causes of arthritis were repeatedly normal or negative. Bone densitometry was below normal. Light microscopy of the synovial membrane showed no significant abnormalities and no iron deposition. Electron microscopic findings included multilamination of vascular basement membranes and large amounts of thin fibrils surrounding many connective tissue cells. Treatment with salicylates did not prevent recurrence of effusions, and quadriceps strengthening and joint rest were moderately successful in relieving pain. Intra-articular corticosteroids on 2 occasions were not helpful. Whether her knee arthritis is purely secondary to the para-articular bone thinning from the chronic marrow expansion remains to be determined. Images PMID:7224691

Dorwart, B B; Schumacher, H R

1981-01-01

3

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

PubMed

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

Urrechaga, E

2009-10-01

4

Beta thalassaemia mutations in Turkish Cypriots.  

PubMed Central

Using oligonucleotide hybridisation or restriction endonuclease analysis, we have characterised the molecular defect in 94 patients with thalassaemia major and four with thalassaemia intermedia of Turkish Cypriot descent. We found that four mutations, namely beta+ IVS-1 nt 110, beta zero IVS-1 nt, beta+ IVS-1 nt 6, and beta+ IVS-2 nt 745 were prevalent, accounting for 69.9%, 11.7%, 8.7%, and 5.6% respectively of the beta thalassaemia chromosomes. This information may help in the organisation of a large scale prevention programme based on fetal diagnosis of beta thalassaemia by DNA analysis in the Turkish population. PMID:3236356

Sozuoz, A; Berkalp, A; Figus, A; Loi, A; Pirastu, M; Cao, A

1988-01-01

5

Osmotic fragility test in heterozygotes for alpha and beta thalassaemia.  

PubMed Central

This study shows that the combination of heterozygous beta thalassaemia and deletion heterozygous (-alpha/alpha alpha) or homozygous (-alpha/-alpha) alpha+ thalassaemia may result in the production of erythrocytes which have normal mean volume and haemoglobinisation but decreased osmotic fragility. Based on this finding and previous studies, which have shown that beta thalassaemia screening by the osmotic fragility test may miss a significant proportion of beta thalassaemia heterozygotes, we conclude that beta thalassaemia screening in a population in which both alpha and beta thalassaemia are prevalent should combine the one tube osmotic fragility test with electronic measurement of red blood cell indices in the initial screening process. PMID:4078866

Maccioni, L; Cao, A

1985-01-01

6

?-thalassaemia  

PubMed Central

Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia. It is probably the most common monogenic gene disorder in the world and is especially frequent in Mediterranean countries, South-East Asia, Africa, the Middle East and in the Indian subcontinent. During the last few decades the incidence of alpha thalassaemia in North-European countries and Northern America has increased because of demographic changes. Compound heterozygotes and some homozygotes have a moderate to severe form of alpha thalassaemia called HbH disease. Hb Bart's hydrops foetalis is a lethal form in which no alpha-globin is synthesized. Alpha thalassaemia most frequently results from deletion of one or both alpha genes from the chromosome and can be classified according to its genotype/phenotype correlation. The normal complement of four functional alpha-globin genes may be decreased by 1, 2, 3 or all 4 copies of the genes, explaining the clinical variation and increasing severity of the disease. All affected individuals have a variable degree of anaemia (low Hb), reduced mean corpuscular haemoglobin (MCH/pg), reduced mean corpuscular volume (MCV/fl) and a normal/slightly reduced level of HbA2. Molecular analysis is usually required to confirm the haematological observations (especially in silent alpha-thalassaemia and alpha-thalassaemia trait). The predominant features in HbH disease are anaemia with variable amounts of HbH (0.8-40%). The type of mutation influences the clinical severity of HbH disease. The distinguishing features of the haemoglobin Bart's hydrops foetalis syndrome are the presence of Hb Bart's and the total absence of HbF. The mode of transmission of alpha thalassaemia is autosomal recessive. Genetic counselling is offered to couples at risk for HbH disease or haemoglobin Bart's Hydrops Foetalis Syndrome. Carriers of alpha+- or alpha0-thalassaemia alleles generally do not need treatment. HbH patients may require intermittent transfusion therapy especially during intercurrent illness. Most pregnancies in which the foetus is known to have the haemoglobin Bart's hydrops foetalis syndrome are terminated due to the increased risk of both maternal and foetal morbidity. PMID:20507641

2010-01-01

7

Evaluation of high performance liquid chromatography (HPLC) pattern and prevalence of beta-thalassaemia trait among sickle cell disease patients in Lagos, Nigeria  

PubMed Central

Introduction Sickle cell disease (SCD) is the most common inherited disorder of haemoglobin worldwide. This study evaluated the chromatographic patterns and red blood cell indices of sickle cell patients to determine the co-inheritance of other haemoglobin(Hb) variants and ?-thalassaemia trait. Methods Red cell indices, blood film, sickle solubility test, Hb electrophoresis using alkaline cellulose acetate membrane, and chromatographic patterns using Bio Rad HPLC Variant II were evaluated for 180 subjects. Results Based on low MCV <76fL and MCH<25 pg, in the presence of elevated A2 >4.0% on HPLC and Hb variants eluting outside the S and C windows, at least four haemoglobin phenotypes (SS: 87.7%; SC: 1.1%; SD Punjab: 0.6%; S?-thalassemia: 10.6%) were identified. Mean Hb F% was 8.1±5.1 (median 7.65) for Hb SS and 6.03±5.2 (median 3.9) for Hb S?-thalassemia trait. Majority of Hb SS (69.1%) had Hb F% less than 10 while 27.6% had 10-19.9 and 3.2% had ? 20. Mean Hb F% was higher in female Hb SS (9.55±5.09; mean age 7.4±3.8 years) than the males (7.63±4.80; mean age 6.9±3.8 years) (P=0.02). A borderline significant negative correlation between age and Hb F levels among Hb SS subjects (r= -0.169 P=0.038) was also observed. Conclusion Our data suggests that ? and ?- thalassaemia traits, and other haemoglobin variants co-exist frequently with SCD in our population PMID:25400838

Adeyemo, Titilope; Ojewunmi, Oyesola; Oyetunji, Ajoke

2014-01-01

8

Pregnancy Outcomes in Women with Homozygous Beta Thalassaemia  

PubMed Central

Objectives: Pregnancy in women with homozygous beta thalassaemia (HBT) carries a high risk to both the mother and fetus. The aim of this study was to investigate pregnancy outcomes among this group at a single tertiary centre. Methods: This retrospective descriptive study was conducted between January 2006 and December 2012 on all women with HBT who received prenatal care and subsequently delivered at Sultan Qaboos University Hospital, Muscat, Oman. Women who delivered elsewhere and women with the beta thalassaemia trait were excluded. Results: Ten women with HBT were studied with a total of 15 pregnancies and 14 live births. The mean maternal age ± standard deviation (SD) was 27.9 ± 3.7 years, with a range of 24–35 years. There were 14 spontaneous pregnancies and one pregnancy following hormone treatment. Eight women had been on chelation therapy before pregnancy, one of whom needed chelation during late pregnancy. Of the pregnancies, 93% had a successful outcome with a mean ± SD gestational age at delivery of 38.6 ± 0.9 weeks, with a range of 37–40 weeks. Eight babies (57%) were delivered by Caesarean section. The mean ± SD birth weight was 2.6 ± 0.2 kg, with a range of 1.9–3.0 kg. Three babies (21%) were born with low birth weights. Conclusion: Pregnancy is safe and usually has a favourable outcome in patients with HBT, provided that a multidisciplinary team is available. This is the first study of Omani patients with HBT whose pregnancies have resulted in a successful outcome. PMID:25097768

Al-Riyami, Nihal; Al-Khaduri, Maha; Daar, Shahina

2014-01-01

9

Haemoglobin S Interaction with Beta Thalassaemia- A Case Report from Assam, India  

PubMed Central

Interaction of Hb S with beta thalassaemia is being reported here as this type of case is rare. Hb S (?6 glu?val) is a genetic disorder which occurs due to beta globin gene mutation of haemoglobin. In India, the Hb S is prevalent in the central part, in the eastern, western and southern tribal belt regions and among the tea tribe communities of Assam. The Hb S carriers (Sickle cell trait) leads a normal life but the Sickle cell disease patients show certain clinical manifestation like joint pain, anaemia and jaundice. The HPLC report of the patient showed Compound heterozygous for Hb S- ? thalassaemia. The complete blood count was measured in automated haematology analyser. Mutational pattern of the beta thalassaemia as well as the presence of Hb S gene was detected by PCR. The case showed severe clinical manifestations and transfusion was required due to inheritance of the IVS 1-5 G ?C ?- thalassaemia mutation with the Hb S gene. PMID:25386449

Borah, Monalisha Saikia; Kalita, Dulal

2014-01-01

10

Haemoglobin s interaction with Beta thalassaemia- a case report from assam, India.  

PubMed

Interaction of Hb S with beta thalassaemia is being reported here as this type of case is rare. Hb S (?6 glu?val) is a genetic disorder which occurs due to beta globin gene mutation of haemoglobin. In India, the Hb S is prevalent in the central part, in the eastern, western and southern tribal belt regions and among the tea tribe communities of Assam. The Hb S carriers (Sickle cell trait) leads a normal life but the Sickle cell disease patients show certain clinical manifestation like joint pain, anaemia and jaundice. The HPLC report of the patient showed Compound heterozygous for Hb S- ? thalassaemia. The complete blood count was measured in automated haematology analyser. Mutational pattern of the beta thalassaemia as well as the presence of Hb S gene was detected by PCR. The case showed severe clinical manifestations and transfusion was required due to inheritance of the IVS 1-5 G ?C ?- thalassaemia mutation with the Hb S gene. PMID:25386449

Pathak, Mauchumi Saikia; Borah, Monalisha Saikia; Kalita, Dulal

2014-09-01

11

Iron Overload in Beta Thalassaemia Major and Intermedia Patients  

PubMed Central

ABSTRACT Background: In beta thalassaemia major multiple blood transfusions, ineffective erythropoiesis and increased gastrointestinal iron absorption lead to iron overload in the body. Iron overload impairs the immune system, placing patients at greater risk of infection and illness. Iron overload can be determined by serum ferritin measurement. Objective: The aim of the present study is to assess the serum ferritin levels in multi-transfused Thalassaemia major and Thalassaemia intermedia patients. The study was also done to estimate the present situation of awareness of iron overload in them. Methods: Seventy two blood samples from clinically diagnosed thalassaemia major and intermedia patients were collected from different tertiary care hospitals in Bhopal, India for their serum ferritin estimation. Serum ferritin measurement was performed using indirect enzyme linked immune sorbent based serum ferritin assay kit. Data were analyzed to determine association between variables. The association between age, sex, and serum ferritin level were established. Results: 87.4% of the beta thalassaemia major patients showed very high ferritin levels. The mean serum ferritin level was found to be 2767.52 ng/ml. 44.4% patients had serum ferritin between 1000 to 2500 ng/ml, while 43.05% patients had values above 2500 ng/ml. These levels reflect inadequate chelation and vulnerability to develop iron overload related complications. Conclusion: There is an urgent need to rationalize the chelation therapy and to create awareness about the consequences of iron overload in the patients. The study showed high levels of serum ferritin beta thalassaemia major patients which give an overall bleak view. PMID:24790662

MISHRA, Amit Kumar; TIWARI, Archana

2013-01-01

12

Obligatory premarital tests for beta-thalassaemia in the Gaza Strip: evaluation and recommendations.  

PubMed

Beta-thalassaemia is a major health problem in the Gaza Strip, Palestine, where 293 patients are currently treated with transfusions and chelation. In September 2000, Palestine adopted a prevention programme of obligatory premarital testing for beta-thalassaemia before the issue of a marriage certificate. From April 2003 to May 2005, 21,825 blood samples from 19,712 couples were collected and analysed. Samples (n = 2251, 10.3%) with microcytosis (mean cell volume <80 fl) and/or hypochromasia (mean cell haemoglobin <26 pg) were considered as suspicious for beta-thalassaemia and subjected to serum ferritin and HbA(2) quantification. Of these samples, 25% were carriers for beta-thalassaemia while 32.4% were iron deficient. A diagnosis could not be established in 15.3% of the suspect samples. An increasing percentages of carrier couples did not go ahead with their marriage in the successive years of the programme, which was fitted to zero in the first year and reached 73.7% in the year 2005 (both partners were carriers in 19 couples, 14 decided to separate while five continued). Since implementation, there has been a reduction in the birth of children with beta-thalassaemia major. This study evaluated the 5-year experience of the Gaza Strip in implementing the obligatory premarital testing programme for beta-thalassaemia and recommends measures that could improve it. PMID:17474883

Tarazi, I; Al Najjar, E; Lulu, N; Sirdah, M

2007-04-01

13

Elution of antispectrin antibodies from red cells in homozygous beta-thalassaemia.  

PubMed Central

It is well-established that autoantibodies against red cell membrane antigens, such as spectrin are present in plasma of humans and animals. It is shown here that antispectrin IgG antibodies can be eluted from the red cells of patients with beta-thalassaemia intermedia. It is suggested that these antibodies could play a part in the increased rate of destruction of red cells in homozygous beta-thalassemia, either by reacting with spectrin which is abnormally exposed on the red cell surface or by a cross-reaction with a different membrane component. No rise was found in serum antispectrin levels in beta-thalassaemia; anti-red cell membrane IgG levels were slightly raised, but there was considerable overlap between the levels in patients and in normals. No autoantibody could be found in eluates from cells of normal subjects or patients with sickle cell anaemia. PMID:3708907

Wiener, E; Hughes-Jones, N C; Irish, W T; Wickramasinghe, S N

1986-01-01

14

Thalassaemia in Cyprus  

PubMed Central

Frequencies of the thalassaemias in Cyprus were examined by a survey of hospital inpatients and haematological investigations of adult and newborn population samples. The data indicate that 15% of the Greek and Turkish Cypriots are carriers of beta-thalassaemia genes, while 10% of the population carry alpha-thalassaemia genes. These are the highest frequencies of thalassaemia genes found today in any Caucasian population. PMID:4695698

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

1973-01-01

15

Haematological and obstetric aspects of antenatal diagnosis of beta-thalassaemia: experience with 200 cases  

Microsoft Academic Search

The results of 200 antenatal diagnoses in pregnancies at risk for homozygous beta-thalassaemia, carried out on fetal blood samples obtained by placental aspiration in the second trimester, are described. Globin chain synthesis in the fetuses was measured by means of 3H-leucine incorporation and separation of the chains on carboxy-methyl-cellulose columns. Fetal red cell enrichment was performed by NH4Cl-NH4HCO3 differential lysis

A Cao; M Furbetta; A Angius; A Ximenes; C Rosatelli; T Tuveri; M T Scalas; A M Falchi; G Angioni; F Caminiti

1982-01-01

16

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

PubMed

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

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

1998-01-01

17

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

PubMed

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

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

2015-01-01

18

Beta-Thalassaemia Intermedia: Evaluation of Endocrine and Bone Complications  

PubMed Central

Objective. Data about endocrine and bone disease in nontransfusion-dependent thalassaemia (NTDT) is scanty. The aim of our study was to evaluate these complications in ?-TI adult patients. Methods. We studied retrospectively 70 ?-TI patients with mean followup of 20 years. Data recorded included age, gender, haemoglobin and ferritin levels, biochemical and endocrine tests, liver iron concentration (LIC) from T2*, transfusion regimen, iron chelation, hydroxyurea, splenectomy, and bone mineralization by dual X-ray absorptiometry. Results. Thirty-seven (53%) males and 33 (47%) females were studied, with mean age 41 ± 12 years, mean haemoglobin 9.2 ± 1.5?g/dL, median ferritin 537 (range 14–4893), and mean LIC 7.6 ± 6.4?mg?Fe/g?dw. Thirty-three patients (47%) had been transfused, occasionally (24/33; 73%) or regularly (9/33; 27%); 37/70 (53%) had never been transfused; 34/70 patients had been splenectomized (49%); 39 (56%) were on chelation therapy; and 11 (16%) were on hydroxyurea. Endocrinopathies were found in 15 patients (21%): 10 hypothyroidism, 3 hypogonadism, 2 impaired glucose tolerance (IGT), and one diabetes. Bone disease was observed in 53/70 (76%) patients, osteoporosis in 26/53 (49%), and osteopenia in 27/53 (51%). Discussion and Conclusions. Bone disease was found in most patients in our study, while endocrinopathies were highly uncommon, especially hypogonadism. We speculate that low iron burden may protect against endocrinopathy development. PMID:25110660

Baldini, M.; Marcon, A.; Cassin, R.; Ulivieri, F. M.; Spinelli, D.; Cappellini, M. D.; Graziadei, G.

2014-01-01

19

Obstructive uropathy due to extramedullary haematopoiesis in beta thalassaemia/haemoglobin E.  

PubMed Central

An 18 year old woman with beta thalassaemia/haemoglobin E developed a large pelvic tumour resulting in bilateral obstructive uropathy. Technetium-99m sulphur colloid marrow image, computed tomographic scan of the abdomen and needle biopsy of the mass confirmed the diagnosis of extramedullary haematopoiesis. Although radiation is the treatment of choice for decompression, the mass in this patient did not respond satisfactorily due to its multiple area of tumour autoinfarction. Obstructive uropathy due to extramedullary erythropoiesis has not to our knowledge been previously described. Images Figure 1 Figure 2 PMID:8446561

Intragumtornchai, T.; Arjhansiri, K.; Posayachinda, M.; Kasantikul, V.

1993-01-01

20

Fetal haemoglobin augmentation in E/beta(0) thalassaemia: clinical and haematological outcome.  

PubMed

Patients with E/beta(0) thalassaemia, the most common haemoglobinopathy in many Asian countries, might benefit from drugs that increase fetal and total haemoglobin and thereby decrease the need for transfusions. The long-term clinical efficacy and safety of such therapy is unknown, limiting its use in countries where resources for safe and regular transfusion are scarce. In this study, 45 patients were treated with hydroxyurea (18-20 mg/kg) for 24+/-9 months, hydroxyurea with sodium phenyl butyrate (n=8) and hydroxyurea with erythropoietin (n=9), each for approximately 6 months, and followed for 3 years from study exit. Hydroxyurea had minimal toxicity, resulted in a mean 1.3 g/dl steady-state increase in haemoglobin in 40% of patients, and a milder response (beta(0) thalassaemia patients and can be considered for patients with intermediate severity disease, thus delaying or avoiding the need for life-long transfusions. Continuous monitoring of toxicity and growth is required. PMID:16225658

Singer, Sylvia T; Kuypers, Frans A; Olivieri, Nancy F; Weatherall, David J; Mignacca, Robert; Coates, Thomas D; Davies, Sally; Sweeters, Nancy; Vichinsky, Elliott P

2005-11-01

21

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

Microsoft Academic Search

?-thalassaemia is one of the most common single-gene inherited conditions in the world, and thalassaemia carrier screening is the most widely performed genetic screening test, occurring in many different countries. ?-thalassaemia carrier screening programmes provide a unique opportunity to compare the delivery of carrier screening programmes carried out in different cultural, religious and social contexts. This review compares the key

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

2010-01-01

22

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

PubMed

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

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

2014-04-01

23

One antigen mismatched related donor bone marrow transplant in a patient with acute lymphoblastic leukaemia and beta-thalassaemia major: potential cure of both marrow disorders.  

PubMed

We report a case of a 34-year-old man with T-ALL and beta-thalassaemia major who underwent a one antigen mismatched related donor bone marrow transplant. Five months post transplant chimeric studies revealed full donor haemopoiesis and the patient remains leukaemia and thalassaemia free at 12 months post transplant. Cumulative risk factors contributing to the increased transplant-related mortality in patients with two different marrow disorders are discussed. PMID:10734304

Kottaridis, P D; Peggs, K; Lawrence, A; Verfuerth, S; Chatterjee, R; Telfer, P; Porter, J B; Mackinnon, S; Goldstone, A H

2000-03-01

24

Bone marrow transplantation for secondary (therapy-related) acute non-lymphoblastic leukaemia: report of a case associated with adoptive beta-thalassaemia.  

PubMed

A female patient with therapy-related acute non-lymphoblastic leukaemia occurring after intensive combined modality treatment for IIIB Hodgkin's disease was transplanted from her HLA-identical brother. No attempt was made to induce a remission and the transplant was performed with standard chemoradiotherapeutic conditioning. Three years after the transplant the patient is alive in complete remission with a 46,XY karyotype. The donor has a mild, heterozygous beta-thalassaemia ('thalassaemia minima'). The recipient has much more pronounced thalassaemic features, similar to so-called thalassaemia intermedia, with peripheral blood smears indistinguishable from thalassaemia major. The erythrocytic alterations are undoubtedly due to the splenectomy which was performed during a staging procedure, but the marked difference between donor and recipient haemoglobin values cannot be attributed solely to the asplenic state. PMID:3332161

Marmont, A M; van Lint, M T; Bacigalupo, A; Sciaratta, G V; Ivaldi, G

1987-06-01

25

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

PubMed Central

?-thalassaemia is one of the most common single-gene inherited conditions in the world, and thalassaemia carrier screening is the most widely performed genetic screening test, occurring in many different countries. ?-thalassaemia carrier screening programmes provide a unique opportunity to compare the delivery of carrier screening programmes carried out in different cultural, religious and social contexts. This review compares the key characteristics of ?-thalassaemia carrier screening programmes implemented in countries across the world so that the differences and similarities between the programmes can be assessed. The manner in which thalassaemia carrier screening programmes are structured among different populations varies greatly in several aspects, including whether the programmes are mandatory or voluntary, the education and counselling provided and whether screening is offered pre-pregnancy or antenatally. National and international guidelines make recommendations on the most appropriate ways in which genetic carrier screening programmes should be conducted; however, these recommendations are not followed in many programmes. We discuss the implications for the ethical and acceptable implementation of population carrier screening and identify a paucity of research into the outcomes of thalassaemia screening programmes, despite the fact that thalassaemia screening is so commonly conducted. PMID:20571509

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

2010-01-01

26

Can automated haematology analysers discriminate thalassaemia from iron deficiency?  

PubMed

The use of automated analysers in population screening for beta-thalassaemia has been a matter of controversy. The new fully automated haematology analyser Sysmex E-5000 (Toa Medical Electronics Co. Ltd) facilitates the discrimination of heterozygous thalassaemia from iron deficiency anaemia. In addition to haemoglobin, mean corpuscular haemoglobin and mean corpuscular volume, the red cell size-distribution width is measured. In patients with hypochromic microcytic red cells, the Sysmex data have been evaluated and compared with the indices described by England and Fraser [Lancet i, pp. 449-452, 1973], Mentzer [Lancet i, p. 882, 1973] and by Shine and Lal [Lancet i, pp. 692-694, 1977]. For the detection of beta-thalassaemia trait, the size-distribution width is superior to the previously described indices. The sensitivity is 79%, the specificity 95% and the predictive value for a positive test 94%. PMID:3120468

Marti, H R; Fischer, S; Killer, D; Bürgi, W

1987-01-01

27

Is routine molecular screening for common alpha-thalassaemia deletions necessary as part of an antenatal screening programme?  

PubMed

Antenatal sickle and thalassaemia screening programmes are now established in most high prevalence areas in England. Although screening reliably detects beta-thalassaemia trait, in many cases, results state that alpha-thalassaemia trait cannot be excluded. The detection of couples at risk of a child with hydrops fetalis is one of the aims of the national programme. We, therefore, performed polymerase chain reaction (PCR) for the common alpha-thalassaemia gene deletions to assess the usefulness of this technique in routine screening practice. Between August 2001 and August 2002, of the 5092 women booked at the antenatal clinic, 425 were found to have a mean corpuscular haemoglobin (MCH) <27 pg in the absence of beta-thalassaemia trait; 189 (44.5%) had an MCH <25 pg. All 425 patients underwent PCR analysis for the common deletions: -SEA (South-East Asian), -MED (Mediterranean), -alpha(20.5), -FIL (Filipino), -alpha 3.7 and -alpha 4.2 genotypes. In total, 130 (31%) women were positive for alpha-thalassaemia deletion; 86 (24.7%) were heterozygous for -alpha 3.7, 19 (4.4%) were homozygous for -alpha 3.7, 12 (2.8%) were heterozygous for -alpha 4.2, 1 (0.2%) was homozygous for -alpha 4.2, 11 (2.6%) were heterozygous for -SEA and one (0.2%) was heterozygous for the -MED genotype. Although the detection rate for alpha(+)-thalassaemia was high, a strategy of selective screening using MCH <25 pg and ethnic group (SEA, Middle East or Eastern MED) would have identified all individuals heterozygous for alpha(0)-thalassaemia. Routine molecular screening for all forms of alpha-thalassaemia trait is unjustified in antenatal screening. PMID:17626702

Sorour, Y; Heppinstall, S; Porter, N; Wilson, G A; Goodeve, A C; Rees, D; Wright, J

2007-01-01

28

Prevalence of Endocrinopathies in Patients with Beta-Thalassaemia Major - A Cross-Sectional Study in Oman  

PubMed Central

Background Beta-thalassaemia major is a common medical problem worldwide. There is little data dealing with the nature and prevalence of different endocrine disorders in this disease in the Sultanate of Oman. Objectives To establish the prevalence and times of occurrence of endocrine disorders in patients with beta-thalassaemia major. Methods This cross-sectional study was conducted during Jan-Jul 2008 and dealt with 30 Omani patients with transfusion-dependent homozygous beta-thalassaemia major who were consulting Thalassaemia Clinic, Royal Hospital. They included 15 males and 15 females, aged 16 to 32 years with median of 21 years and mean ± SD of 21.23 ± 3.42 years. The medical records of these patients were reviewed and their endocrine functions were assessed. This assessment included pituitary and gonadal function, thyroid function, bone profile (including Parathyroid Hormone), morning cortisol and fasting glucose. These profiles were reviewed to exclude hypogonadism, hypothyroidism, hypoparathyroidism, hypoadrenalism or diabetes mellitus. Results Hypogonadism was reported in 22 (73.3%) patients (13 female, 9 male). Low levels of Follicle-Stimulating Hormone (FSH) and low Luteinizing Hormone (LH) with low estradiol (in females) or testosterone (in males) was noted in 15 (50.0%) patients (7 female, 8 male). Normal (but inappropriately low) levels of FSH and LH with low estradiol (in females) or testosterone (in males) was noted in 7 (23.3%) patients (6 female, 1 male). Primary hypothyroidism was present in only 1 (3.3%) patient (female) who Hypoparathyroidism was found in 3 (10.0%) patients (2 female, 1 male). Diabetes mellitus with high fasting glucose was noted in 8 (26.7%) patients (2 female, 6 male). Morning cortisol levels for all patients were within the reference range with no suspicion of hypoadrenal cortical function. Eight (26.7%) patients had no endocrine disorder, 12 (40.0%) patients had one disorder, 8 (26.7%) patients had 2 disorders, and 2 (6.7%) patients had 3 endocrine disorders. There was no significant difference (p>0.050) in mean serum ferritin in thalassaemics with or without endocrinopathy, regardless of the number of endocrinopathy. Conclusion There is high prevalence of endocrine disorders among Omani beta-thalassaemic adult patients. This signifies the importance of awareness for their development and monitoring for early detection and replacement therapy. No relationship between serum ferritin and development of endocrinopathy was noted. PMID:22334838

Mula-Abed, Waad-Allah; Al Hashmi, Huda; Al Muslahi, Muhanna; Al Muslahi, Hilal; Al Lamki, Mohammad

2008-01-01

29

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

PubMed Central

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

2014-01-01

30

Antenatal diagnosis of thalassaemia major.  

PubMed Central

Haemoglobin synthesis was studied in fetal blood samples obtained at 17 to 20 weeks' gestation in 22 women at risk of carrying a fetus with homozygous beta-thalassaemia. A presumptive diagnosis of homozygous beta-thalassaemia was made in four cases, and the pregnancy was terminated. An inconclusive answer was obtained in one case, and the patient also chose to have her pregnancy terminated. Two fetuses were lost as a result of the procedure. Of the remaining 15 pregnancies, 13 proceeded to term and two to 36 weeks; in each case a normal infant or one heterozygous for beta-thalassaemia was delivered. Current efforts should be directed towards improving the blood sampling technology so that fetal blood sampling can be used widely in those countries where thalassaemia is a major problem. PMID:623989

Fairweather, D V; Modell, B; Berdoukas, V; Alter, B P; Nathan, D G; Loukopoulos, D; Wood, W; Clegg, J B; Weatherall, D J

1978-01-01

31

Thalassaemia Intermedia: an Update  

PubMed Central

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

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

2009-01-01

32

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

PubMed

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

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

2012-05-01

33

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

Microsoft Academic Search

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

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

1988-01-01

34

Distribution of serum lipids and lipoproteins in patients with beta thalassaemia major; an epidemiological study in young adults from Greece  

PubMed Central

Background Beta-thalassaemia major (b-TM) has been defined as a combination of chronic hemolytic anemia, iron storage disease and myocarditis, and it has been associated with premature death especially due to heart failure. To the best of our knowledge the status of blood lipids in these patients has rarely been investigated. Thus, we assessed the levels of lipids and lipoproteins in a sample of cardiovascular disease free adult men and women with b-TM. Methods During 2003 we enrolled 192 consecutive patients with b-TM that visited our Institution for routine examinations. The Institution is considered the major reference center for b-TM in Greece. Of the 192 patients, 88 were men (25 ± 6 years old) and 104 women (26 ± 6 years old). Fasting blood lipid levels were measured in all participants. Results Data analysis revealed that 4% of men and 2% of women had total serum cholesterol levels > 200 mg/dl, and 11% of men and 17% of women had triglyceride levels > 150 mg/dl. In addition, mean HDL cholesterol levels were 32 ± 11 mg/dl in men and 38 ± 10 mg/dl in women, lipoprotein-a levels were 8.3 ± 9 mg/dl in men and 8.8 ± 9 mg/dl in women, apolipoprotein-A1 levels were 111 ± 17 mg/dl in men and 123 ± 29 mg/dl in women, and apolipoprotein-B levels were 60 ± 20 mg/dl in men and 59 ± 14 mg/dl in women. Total-to-HDL cholesterol ratios were 3.7 ± 1.2 and 3.8 ± 1.5 in men and women, respectively. Conclusions The majority of the patients had blood lipid levels (by the exception of HDL-cholesterol) within the normal range, and consequently the prevalence of lipid and lipoprotein abnormalities was much lower as compared to the general population of the same age. Interestingly, is that the total – to HDL cholesterol ratio was high in our patients, and may underline the importance of this index for the prognosis of future cardiac events in these patients. PMID:15023232

Chrysohoou, Christina; Panagiotakos, Demosthenes B; Pitsavos, Christos; Kosma, Konstantina; Barbetseas, John; Karagiorga, Markisia; Ladis, Ioannis; Stefanadis, Christodoulos

2004-01-01

35

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

PubMed

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

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

2014-08-01

36

Pulmonary hypertension in ? thalassaemia.  

PubMed

Pulmonary hypertension is one of the leading causes of morbidity and mortality in patients with haemolytic disorders and is a frequent finding in echocardiographic screening of patients with ? thalassaemia. Substantial progress has been made in understanding of the multifactorial pathophysiology of pulmonary hypertension in ? thalassaemia. Haemolysis, reduced nitric oxide bioavailability, iron overload, and hypercoagulopathy are among the main pathogenetic mechanisms. Various disease-directed therapeutic methods, such as transfusion, chelation, and splenectomy, have important roles in the development of pulmonary hypertension in ? thalassaemia. Studies investigating the prevalence of pulmonary hypertension in ? thalassaemia are mostly based on echocardiographic findings, and are thus limited by the scarcity of information derived from right heart catheterisation. Invasive pulmonary haemodynamic data are needed to clarify the true prevalence of pulmonary hypertension in ? thalassaemia, to better understand the underlying pathophysiology and risk factors, and to define the optimum therapy for this devastating complication. PMID:24429247

Anthi, Anastasia; Orfanos, Stylianos E; Armaganidis, Apostolos

2013-08-01

37

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

PubMed

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

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

2013-01-01

38

Thalassaemia in pregnancy.  

PubMed

Thalassaemia is the most common monogenetic disease worldwide. Antenatal screening is effective and simple, and accurate genetic prenatal diagnosis can be achieved in early gestation. Less invasive methods are feasible with ultrasound fetal assessment for alpha-thalassaemia, analysis of circulating fetal nucleic acid in maternal plasma, and pre-implantation genetic diagnosis. Women with thalassaemia major and intermedia are at risk of various maternal complications, such as cardiac failure, alloimmunisation, viral infection, thrombosis, endocrine and bone disturbances. Therefore, it is prudent to adhere to a standard management plan in this group of pregnant women. Close monitoring of the maternal and fetal condition during pregnancy is essential, and various treatments, such as blood transfusion or postpartum prophylaxis for thromboembolism, may be indicated. After birth, resumption of iron chelation and bisphosphonates treatment is needed, and counselling on breast feeding and contraception should be given. PMID:22079388

Leung, Tak Yeung; Lao, Terence T

2012-02-01

39

The importance of the genetic picture and globin synthesis in determining the clinical and haematological features of thalassaemia intermedia.  

PubMed

Twelve carriers of thalassaemia intermedia were studied. Their clinical and haematological picture was distinctly different from that in both heterozygotes and homozygotes for beta thalassaemia. Several genetic patterns were found responsible for thalassaemia intermedia: beta/delta beta thalassaemia, alpha 2 beta/beta thalassaemia-heterocellular HPFH. In a few subjects the genetic picture indicated that the patients were homozygous for beta thalassaemia, in spite of the mildness of the clinical situation. The lack of genetic uniformity was refelcted in very wide Hb A2 (2.5--8.7%) and Hb F (7.5--96.9%) ranges, as opposed to the noticeable degree of biochemical uniformity indicated by the very similar imbalance of globin chain synthesis: 0.33-0.54 for the non-alpha/alpha chain ratio in the peripheral blood. The mean for this parameter (0.43 +/- 0.05) was significantly different (P less than 0.001) from that observed in heterozygous carriers (0.60 +/- 0.10) and homozygous carriers (0.11 +/- 0.05) for beta thalassaemia. The marrow blood displayed a comparable pattern. It is therefore suggested that the severity of thalassaemia is attributable to the degree of chain synthesis imbalance. PMID:427031

Gallo, E; Massaro, P; Miniero, R; David, D; Tarella, C

1979-02-01

40

Alpha thalassaemia in tribal communities of coastal Maharashtra, India  

PubMed Central

Background & objectives: In a routine community health survey conducted in adult Adivasis of the costal Maharashtra, microcytosis and hyprochromia were observed in more than 80 per cent of both males and females having normal haemoglobin levels suggesting the possibility of ?-thalassaemia in these communities. We conducted a study in Adivasi students in the same region to find out the magnitude of ?-thalessaemia. Methods: The participants (28 girls and 23 boys) were 14-17 yr old studying in a tribal school. Fasting venous blood samples (5 ml) were subjected to complete blood count (CBC), Hb-HPLC and DNA analysis using gap-PCR for deletion of – ?3.7 and – ?4.2, the two most common molecular lesions observed in ?-thalassaemia in India. Results: Microcytic hypochromic anaemia was observed 50 and 35 per cent girls and boys, respectively. Iron supplementation improved Hb levels but did not correct microcytois and hypochromia. More than 80 per cent non-anaemic students of both sexes showed microcytois and hypochromia. DNA analysis confirmed that the haematological alterations were due to ?-thalassaemia trait characterized by deletion of – ?3.7. Majority (> 60%) of the affected students had two deletions (-?3.7/-?3.7) genotype ?+ thalassaemia. Interpretation & conclusions: This is perhaps the first report on the occurrence of ?-thalassaemia in tribal communities of coastal Maharashtra. Very high (78.4%) haplotype frequency of -?3.7 suggests that the condition is almost genetically fixed. These preliminary observations should stimulate well planned large scale epidemiological studies on ?-thalassaemia in the region. PMID:25297356

Deo, Madhav G.; Pawar, Prakash V.

2014-01-01

41

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

PubMed Central

Alpha thalassaemia is highly prevalent in the plural society of Malaysia and is a public health problem. Haematological and molecular data from 5016 unrelated patients referred from various hospitals to the Institute for Medical Research for ? thalassaemia screening from 2007 to 2010 were retrieved. The aims of this retrospective analysis were to describe the distribution of various alpha thalassaemia alleles in different ethnic groups, along with their genotypic interactions, and to illustrate the haematological changes associated with each phenotype. Amongst the patients, 51.2% (n = 2567) were diagnosed with ? thalassaemia. Of the 13 ? thalassaemia determinants screened, eight different deletions and mutations were demonstrated: three double gene deletions, – – SEA, – – THAI, ––FIL; two single-gene deletions, ?–3.7 and – ?4.2; and three non-deletion mutations, Cd59G > A (haemoglobin [Hb] Adana), Cd125T > C (Hb Quong Sze) and Cd142 (Hb Constant Spring). A high incidence of ?–3.7 deletion was observed in Malays, Indians, Sabahans, Sarawakians and Orang Asli people. However, the – – SEA deletion was the most common cause of alpha thalassaemia in Chinese, followed by the ?–3.7 deletion. As many as 27 genotypic interactions showed 1023 ? thalassaemia silent carriers, 196 homozygous ?+ thalassaemia traits, 973 heterozygous ?0 thalassaemia carriers and 375 patients with Hb H disease. Statistical analysis showed a significant difference in the distribution of ? thalassaemia determinants amongst the various ethnic groups. Hence, the heterogeneous distribution of common determinants indicated that the introduction of an ethnicity-targeted hierarchical ? thalassaemia screening approach in this multi-ethnic Malaysian population would be effective. PMID:24025420

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

2013-01-01

42

Bone pain in thalassaemia: assessment of DEXA and MRI findings.  

PubMed

An increasing number of adult thalassaemics have been complaining of aches and pains of varying degrees of severity. In a minority the pains are debilitating and there is stiffness in movement. This study is an attempt to understand the osteoporosis of thalassaemia using DEXA and MRI as the main investigative tools. 122 patients with homozygous beta-thalassaemia were examined by DEXA. It was found that almost half had BMD below two standard deviations from the mean for the normal population, especially in the lumbar spine. There was no marked worsening with age. However the proportion of patients who had their first transfusion after the 3rd year (especially after the 6th) was significantly greater in those with the low BMD. There is also an excess of hypogonadic thalassaemics amongst those with low BMD. 72 thalassaemics were examined by MRI of marrow. Hypercellular, dark marrow on T1 weighted images found in young patients (20-30 yr) was replaced by fatty marrow in later life (30-40 yr). In a group of 21 older thalassaemics (33-62 yr) extreme bone marrow expansion was expressed by the reappearance of hypercellular areas, giving the impression of patchiness which affects not only the diaphyses but also the metaphyses. These patients mostly (66%) had thalassaemia intermedia and had started irregular transfusion after the 6th year of life. About 75% had a BMD below 2 SD. The conclusion is that patients who were late in receiving blood and especially those with thalassaemia intermedia had a more expanded bone marrow with pressure on cortical bone which caused pain in several cases. An attempt was made in 10 patients to reduce marrow hyperplasia by using hydroxyurea. Results showed a relief of pain and modification of magnetic signal intensity. PMID:10091146

Angastiniotis, M; Pavlides, N; Aristidou, K; Kanakas, A; Yerakaris, M; Eracleous, E; Posporis, T

1998-01-01

43

Nutritional factors and thalassaemia major.  

PubMed Central

Abnormal growth is a common feature of thalassaemia major in children. In an attempt to determine whether it has a nutritional cause, 12 children aged 1 to 3 years with thalassaemia major were studied under metabolic ward conditions. Nutritional status was assessed by anthropometry and biochemistry before and after an intensive nutrition regimen. Five children had wasting or stunting on admission. As a result of the nutrition intervention, mean weight for height improved significantly. The mean height increase of 0.4 cm after one month was not significant. Plasma zinc, depressed in half the children on admission, improved, as did alpha tocopherol, while copper decreased. Plasma insulin-like growth factor-I also increased commensurate with improved growth. Fat absorption was normal in all children. Undernutrition is an important cause of associated growth disturbances in children with thalassaemia major. Malnutrition was primarily caused by inadequate nutrient intake, as indicated by the capacity to gain weight appropriately when provided with nutrition support, and by the absence of intestinal malabsorption. While long term studies are required to determine if nutritional support will prevent stunting, these results underscore its central role in preventing nutritional deficiencies and in promoting normal growth in thalassaemic children. PMID:8787427

Fuchs, G J; Tienboon, P; Linpisarn, S; Nimsakul, S; Leelapat, P; Tovanabutra, S; Tubtong, V; DeWier, M; Suskind, R M

1996-01-01

44

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

PubMed Central

Background: Thalassaemia is one of the most common Mendelian disorders in Mediterranean area. Iran has about 26,000 Thalassaemic patients, so it is one of the most affected countries. The aim of this study was to evaluate the screening program and cost analysis of Thalassaemia prevention program in West-Azerbaijan province of Iran. Methods: This study evaluated the efficacy of Health system's Thalassaemia prevention program with a sensitivity analysis for its costs. The second five years of the program was evaluated. The economic burden of Thalassaemia is determined by the birth prevalence of the affected infants and the cost that is accrued to treat the infected individuals and was compared with the total cost of screening the couples for thalassemia trait. Results: The average incidence rate of major Thalassaemia was 19.8 per 100,000 live births and mean coverage rate of program was 74%. The rate of canceling the marriage among carrier couples was 53%. Cost analysis showed that the cost of screening and prenatal diagnosis program was much lower than the cost of treatment in potential thalassaemic patients. Conclusions: The prevention program of Thalassaemia including a premarital and pre-natal screening in west Azerbaijan province is demonstrated to be cost-effective. Taking some actions in order to increase the coverage of pre-marital screening, providing pre-natal diagnosis in private and public sector, complete insurance coverage for the high-risk couples to perform the investigations more easily, were recommended. PMID:23112894

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

2012-01-01

45

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

PubMed Central

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

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

46

Renal dysfunction in patients with thalassaemia  

PubMed Central

Summary Little is known about the effects of thalassaemia on the kidney. Characterization of underlying renal function abnormalities in thalassaemia is timely because the newer iron chelator, deferasirox, can be nephrotoxic. We aimed to determine the prevalence and correlates of renal abnormalities in thalassaemia patients, treated before deferasirox was widely available, using 24-h collections of urine. We calculated creatinine clearance and urine calcium-to-creatinine ratio and measured urinary ?2-microglobulin, albumin, and protein. We used multivariate modelling to identify clinical, therapeutic, and laboratory predictors of renal dysfunction. One-third of thalassaemia patients who were not regularly transfused had abnormally high creatinine clearance. Regular transfusions were associated with a decrease in clearance (P = 0·004). Almost one-third of patients with thalassaemia had hypercalciuria, and regular transfusions were associated with an increase in the frequency and degree of hypercalciuria (P < 0·0001). Albuminuria was found in over half of patients, but was not consistently associated with transfusion therapy. In summary, renal hyperfiltration, hypercalciuria, and albuminuria are common in thalassaemia. Higher transfusion intensity is associated with lower creatinine clearance but more frequent hypercalciuria. The transfusion effect needs to be better understood. Awareness of underlying renal dysfunction in thalassaemia can inform decisions now about the use and monitoring of iron chelation. PMID:21332704

Quinn, Charles T.; Johnson, Valerie L.; Kim, Hae-Young; Trachtenberg, Felicia; Vogiatzi, Maria G.; Kwiatkowski, Janet L.; Neufeld, Ellis J.; Fung, Ellen; Oliveri, Nancy; Kirby, Melanie; Giardina, Patricia J.

2014-01-01

47

Prevalence and hematological characteristics of beta-thalassemia trait in Gaziantep urban area, Turkey.  

PubMed

Thalassemia is one of the most common hereditary disorders in the Mediterranean region and studies have shown that the prevalence of beta-thalassemia trait is high in the southern part of Turkey. Gaziantep is a city located near this region and, therefore, the authors investigated the prevalence and hematological characteristics of the beta-thalassemia traits in primary school students in Gaziantep. Sixty primary schools were selected from a list of all primary schools using a systematic sampling method. Data were collected by a face-to-face questionnaire. Osmotic fragility testing (OFT) using single-tube 0.36% NaCl solution was used for the screening of beta-thalassemia. Students who were positive in regard to OFT went through a series of testing, including a complete blood count, serum ferritin levels, serum iron, and hemoglobin electroforesis. Chi-square test was used in statistical analysis. Of the 2439 students enrolled to the study from the selected 60 classrooms, 1353 (55.5%) were male and 1086 (44.5%) were female. The OFT was positive in 115 (4.7%) of the participants. CEA and confirmatory HPLC results of the students who were positive OFT indicated that 70 (60.8%) had normal results, 33(28.7%) showed high HbA2 levels, 7 (6.1%) showed high HbA2 and HbF levels, 5(5.2%) showed high HbA2 and Fe-deficiency anemia, and none showed increased HbF levels. The overall prevalence of beta-thalassemia trait was 1.84%. No gender differentials and highest rates among the Kahramanmaras (3.5%) and Sanliurfa (1.7%) born students were the other significant findings of this study. Implementation of a routine carrier-screening program offering genetic counseling, prenatal diagnosis, and selective termination of affected fetuses would be a wise approach to eliminate this disease from the region. PMID:16728362

Gurbak, Mehmet; Sivasli, Ercan; Coskun, Yavuz; Bozkurt, Ali Ihsan; Ergin, Ahmet

2006-01-01

48

Cirrhosis associated with multiple transfusions in thalassaemia  

Microsoft Academic Search

The study of surgical liver biopsy specimens obtained during splenectomy in 86 children with thalassaemia indicated that such patients may develop liver disease that evolves into cirrhosis. Histological characteristics suggest that it is post-necrotic cirrhosis. Onset of cirrhosis in some patients may occur as early as 7-8 years old, and at age about 15-16 years most children with thalassaemia show

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

1984-01-01

49

NESTROFT - A Valuable, Cost Effective Screening Test for Beta Thalassemia Trait in North Indian Punjabi Population  

PubMed Central

Background and Objectives: Beta-thalassemia continues to be a cause of significant burden to the society, particularly in the poorer developing countries. The objective of the present study was to evaluate the validity of “NESTROFT” (Naked Eye Single Tube Red Cell Osmotic Fragility Test) as a useful screening tool in the diagnosis of beta thalassemia trait. Material and Methods: The present study was conducted on 150 subjects in the department of haematology in a tertiary health care center in north Indian state of Punjab. In group I, 111 cases diagnosed as microcytic hypochromic anaemia were selected. In group II, 39 individuals (the family members of known cases of beta thalassemia major) were selected. Complete haemogram, NESTROFT and HbA2 levels by electrophoresis were done and the results were tabulated and analyzed statistically. Results: Of the 111 cases in group I, 20 (18%) gave positive results with NESTROFT while 91 cases (82%) tested negative. In group II, out of 39 cases, 30 (76.92%) tested positive with NESTROFT while 9 gave a negative result. In group I, out of 20 NESTROFT positive cases, only 3 had HbA2 levels more than 3.5%. In group II, all the 30 NESTROFT positive cases had HbA2 levels more than 3.5%. The test showed a sensitivity of 100%, specificity of 85.47%, a positive predictive value of 66% and a negative predictive value of 100%. Conclusion: Thus, NESTROFT is a valuable, cost-effective screening test for beta thalassemia trait and appears to be a valid test in rural setting with financial constraints. PMID:24551637

Piplani, Sanjay; Manan, Rahul; Lalit, Monika; Manjari, Mridu; Bhasin, Tajinder; Bawa, Jasmine

2013-01-01

50

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

Microsoft Academic Search

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

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

2011-01-01

51

Iron state and hepatic disease in patients with thalassaemia major, treated with long term subcutaneous desferrioxamine  

Microsoft Academic Search

Liver biopsies were performed on 51 regularly transfused patients with beta thalassaemia, age range 5-36 (mean 18.6) years, who had received regular subcutaneous desferrioxamine (DFX) treatment for periods between one and eight years (40 for eight years). The biopsy specimens were examined by light microscopy and immunofluorescence for hepatitis B virus surface and core antigens (HBsAg and HBcAg), and the

M A Aldouri; B Wonke; A V Hoffbrand; D M Flynn; M Laulicht; L A Fenton; P J Scheuer; C C Kibbler; C A Allwood; D Brown

1987-01-01

52

The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies.  

PubMed

The increase in haemoglobin (Hb)A(2) level is the most significant parameter in the identification of beta thalassaemia carriers. However, in some cases the level of HbA(2) is not typically elevated and some difficulties may arise in making the diagnosis. For these reasons the quantification of HbA(2) has to be performed with great accuracy and the results must be interpreted together with other haematological and biochemical evidence. The present document includes comments on the need for accuracy and standardisation, and on the interpretation of the HbA(2) value, reviewing the most crucial aspects related to this test. A practical flow-chart is presented to summarise the significance of HbA(2) estimation in different thalassaemia syndromes and related haemoglobinopathies. PMID:19103851

Mosca, A; Paleari, R; Ivaldi, G; Galanello, R; Giordano, P C

2009-01-01

53

Alpha thalassaemia-mental retardation, X linked  

PubMed Central

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha-thalassaemia is not always present. This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. ATRX mutations cause diverse changes in the pattern of DNA methylation at heterochromatic loci but it is not yet known whether this is responsible for the clinical phenotype. The diagnosis can be established by detection of alpha thalassaemia, identification of ATRX gene mutations, ATRX protein studies and X-inactivation studies. Genetic counselling can be offered to families. Management is multidisciplinary: young children must be carefully monitored for gastro-oesophageal reflux as it may cause death. A number of individuals with ATR-X are fit and well in their 30s and 40s. PMID:16722615

Gibbons, Richard

2006-01-01

54

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

PubMed

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

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

2014-01-01

55

Thalassaemia intermedia presenting with compressive myelopathy: a case report.  

PubMed

Extramedullary haematopoiesis leading to spinal cord compression is a rare complication of thalassaemia. An interesting case has been reported where a diagnosis of thalassaemia intermedia was made at the age of 35 years in a male patient with no history of blood transfusion, who presented with compressive myelopathy caused by extramedullary haematopoietic tissue in epidural space. The patient recovered after surgical decompression. PMID:24765699

Bhattacharyya, Bhaskar; Ghosh, Soumitra Kumar; Dhibar, Tapan; Chattopadhyay, Amitabha; Ghosh, Samarendra Nath; Bhadra, Ashok Kumar; Ghorai, Prabhat Kumar

2013-05-01

56

alpha-Thalassaemia in the population of Cyprus.  

PubMed

We have determined the alpha-thalassaemia (alpha-thal) determinants in 78 patients with Hb H disease from Cyprus; 25 were Turkish Cypriots and 53 were Greek Cypriots. Four deletional and three non-deletional alpha-thal alleles were present; the -alpha(3.7 kb) alpha-thal-2 and the --MED-I alpha-thal-1 were most frequently seen; --MED-II and -(alpha)20.5 deletions occurred at considerably lower frequencies. About 15% of all chromosomes carried a non-deletional alpha-thal-2 allele; of these the 5 nucleotide (nt) deletion at the first intervening sequence (IVS-I) donor splice site was present in approximately 8% of all chromosomes. Two types of polyadenylation signal (poly A) mutations were observed. No striking frequency differences were seen between Greek and Turkish Cypriot patients. Combinations of the various types of alpha-thal resulted in eight different forms of Hb H disease. The phenotypes were comparable except for great variations in the level of Hb H which was highest (average approximately 22%) in the 12 patients with the alpha 5nt alpha/--MED-I combination. One patient with the same form of Hb H disease but with an additional beta-thal (IVS-I-110,G-->A) heterozygosity had a most severe microcytosis and hypochromia with < 1% Hb H. Variations in the level of Hb H might correlate with the severity of the disease, although this was not evident from the haematological data. PMID:7734346

Baysal, E; Kleanthous, M; Bozkurt, G; Kyrri, A; Kalogirou, E; Angastiniotis, M; Ioannou, P; Huisman, T H

1995-03-01

57

A thalassaemia intermedia case with concomitant left atrial thrombus.  

PubMed

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

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

2014-01-01

58

Ventriculo-vascular interactions in patients with ? thalassaemia major  

Microsoft Academic Search

Objectives: To determine potential interactions between the heart and arterial system in patients with ? thalassaemia major.Design and patients: Vascular compliance, systemic vascular resistance, and left ventricular (LV) contractility was determined in 34 asymptomatic thalassaemia patients at 2–4 hours after blood transfusion and also in 34 age and sex matched controls using a non-invasive device. The results were compared between

Y F Cheung; S Y Ha; G C F Chan

2005-01-01

59

Prevalence of thalassaemia, iron-deficiency anaemia and glucose-6-phosphate dehydrogenase deficiency among Arab migrating nomad children, southern Islamic Republic of Iran.  

PubMed

This study investigated the prevalence of iron-deficiency anaemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency and ?-thalassaemia trait among Arab migrating nomad children in southern Islamic Republic of Iran. Blood samples were analysed from 134 schoolchildren aged < 18 years (51 males, 83 females). Low serum ferritin (< 12 ng/dL) was present in 17.9% of children (21.7% in females and 11.8% in males). Low haemoglobin (Hb) correlated significantly with a low serum ferritin. Only 1 child had G6PD deficiency. A total of 9.7% of children had HbA2 ? 3.5 g/dL, indicating ?-thalassaemia trait (10.8% in females and 7.8% in males). Mean serum iron, serum ferritin and total iron binding capacity were similar in males and females. Serum ferritin index was as accurate as Hb index in the diagnosis of iron-deficiency anaemia. A high prevalence of ?-thalassaemia trait was the major potential risk factor in this population. PMID:25601811

Pasalar, M; Mehrabani, D; Afrasiabi, A; Mehravar, Z; Reyhani, I; Hamidi, R; Karimi, M

2014-11-01

60

Hepatocellular carcinoma in thalassaemia: an update of the Italian Registry.  

PubMed

The risk of developing hepatocellular carcinoma (HCC) in patients with thalassaemia is increased by transfusion-transmitted infections and haemosiderosis. All Italian Thalassaemia Centres use an ad hoc form to report all diagnoses of HCC to the Italian Registry. Since our last report, in 2002, up to December 2012, 62 new cases were identified, 52% of whom were affected by thalassaemia major (TM) and 45% by thalassaemia intermedia (TI). Two had sickle-thalassaemia (ST). The incidence of the tumour is increasing, possibly because of the longer survival of patients and consequent longer exposure to the noxious effects of the hepatotropic viruses and iron. Three patients were hepatitis B surface antigen-positive, 36 patients showed evidence of past infection with hepatitis B virus (HBV). Fifty-four patients had antibodies against hepatitis C virus (HCV), 43 of whom were HCV RNA positive. Only 4 had no evidence of exposure either to HCV or HBV. The mean liver iron concentration was 8 mg/g dry weight. Therapy included chemoembolization, thermoablation with radiofrequency and surgical excision. Three patients underwent liver transplant, 21 received palliative therapy. As of December 2012, 41 patients had died. The average survival time from HCC detection to death was 11·5 months (1·4-107·2 months). Ultrasonography is recommended every 6 months to enable early diagnosis of HCC, which is crucial to decrease mortality. PMID:24992281

Borgna-Pignatti, Caterina; Garani, Maria Chiara; Forni, Gian Luca; Cappellini, Maria Domenica; Cassinerio, Elena; Fidone, Carmelo; Spadola, Vincenzo; Maggio, Aurelio; Restivo Pantalone, Gaetano; Piga, Antonio; Longo, Filomena; Gamberini, Maria Rita; Ricchi, Paolo; Costantini, Silvia; D'Ascola, Domenico; Cianciulli, Paolo; Lai, Maria Eliana; Carta, Maria Paola; Ciancio, Angela; Cavalli, Paola; Putti, Maria Caterina; Barella, Susanna; Amendola, Giovanni; Campisi, Saveria; Capra, Marcello; Caruso, Vincenzo; Colletta, Grazia; Volpato, Stefano

2014-10-01

61

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

PubMed

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

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

2010-12-01

62

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

PubMed Central

Background Thalassaemia is a common public health problem in Malaysia and about 4.5 to 6% of the Malays and Chinese are carriers of this genetic disorder. The major forms of thalassaemia result in death in utero of affected foetuses (?-thalassaemia) or life-long blood transfusions for survival in ?-thalassaemia. This study, the first nationwide population based survey of thalassaemia in Malaysia, aimed to determine differences in public awareness, perceptions and attitudes toward thalassaemia in the multi-racial population in Malaysia. Methods A cross-sectional computer-assisted telephone interview survey of a representative sample of multi-racial Malaysians aged 18 years and above was conducted between July and December 2009. Results Of a total of 3723 responding households, 2846 (76.4%) have heard of thalassaemia. Mean knowledge score was 11.85 (SD ± 4.03), out of a maximum of 21, with higher scores indicating better knowledge. Statistically significant differences (P < 0.05) in total knowledge score by age groups, education attainment, employment status, and average household income were observed. Although the majority expressed very positive attitudes toward screening for thalassaemia, only 13.6% of married participants interviewed have been screened for thalassaemia. The majority (63.4%) were unsupportive of selective termination of foetuses diagnosed with thalassaemia major. Conclusion Study shows that carrier and premarital screening programs for thalassaemia may be more effective and culturally acceptable in the reduction of pregnancies with thalassaemia major. The findings provide insights into culturally congruent educational interventions to reach out diverse socio-demographic and ethnic communities to increase knowledge and cultivate positive attitudes toward prevention of thalassaemia. PMID:21447191

2011-01-01

63

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

Microsoft Academic Search

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

Fuanglada Tongprasert; Supatra Sirichotiyakul; Wirawit Piyamongkol; Theera Tongsong

2010-01-01

64

Enhanced phagocytosis of ring-parasitized mutant erythrocytes: a common mechanism that may explain protection against falciparum malaria in sickle trait and beta-thalassemia trait  

Microsoft Academic Search

High frequency of erythrocyte (red blood cell (RBC)) genetic disorders such as sickle cell trait, thalassemia trait, homozy- gous hemoglobin C (Hb-C), and glucose- 6-phosphate dehydrogenase (G6PD) defi- ciency in regions with high incidence of Plasmodium falciparummalaria and case- control studies support the protective role of those conditions. Protection has been attributed to defective parasite growth or to enhancedremovaloftheparasitizedRBCs. We

Kodjo Ayi; Franco Turrini; Antonio Piga; Paolo Arese

2004-01-01

65

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

PubMed

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

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

2012-06-01

66

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

PubMed Central

The human mirror neuron system (hMNS) has been associated with various forms of social cognition and affective processing including vicarious experience. It has also been proposed that a faulty hMNS may underlie some of the deficits seen in the autism spectrum disorders (ASDs). In the present study we set out to investigate whether emotional facial expressions could modulate a putative EEG index of hMNS activation (mu suppression) and if so, would this differ according to the individual level of autistic traits [high versus low Autism Spectrum Quotient (AQ) score]. Participants were presented with 3 s films of actors opening and closing their hands (classic hMNS mu-suppression protocol) while simultaneously wearing happy, angry, or neutral expressions. Mu-suppression was measured in the alpha and low beta bands. The low AQ group displayed greater low beta event-related desynchronization (ERD) to both angry and neutral expressions. The high AQ group displayed greater low beta ERD to angry than to happy expressions. There was also significantly more low beta ERD to happy faces for the low than for the high AQ group. In conclusion, an interesting interaction between AQ group and emotional expression revealed that hMNS activation can be modulated by emotional facial expressions and that this is differentiated according to individual differences in the level of autistic traits. The EEG index of hMNS activation (mu suppression) seems to be a sensitive measure of the variability in facial processing in typically developing individuals with high and low self-reported traits of autism. PMID:23630489

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

2013-01-01

67

Hemoglobin A2 levels in healthy persons, sickle cell disease, sickle cell trait, and beta-thalassemia by capillary isoelectric focusing.  

PubMed

Simultaneously measuring major and minor hemoglobin (Hb) variants by capillary isoelective focusing, we obtained HbA2 intervals in healthy volunteers (n = 412) (reference value) and patients with HbS or beta-thalassemia. We classified normal HbA2 reference intervals into three age groups: 5 months or younger (1.2% +/- 1.5%), 6 months to 1 year (2.2% +/- 0.9%), and 1 year or older (2.4% +/- 0.9%). These intervals were comparable to those used with other methods. Patients 1 year of age or older with HbS had significantly higher HbA2 levels (sickle cell trait, 2.9% +/- 0.9%; sickle cell anemia, 2.8% +/- 1.0%; P < .05). Although reference HbA2 intervals overlapped those in patients with HbS, no overlap in HbA2 levels was noted between these groups and patients with beta-thalassemia (observed range, 4.3% to 7.5%). The higher than normal HbA2 interval in patients with HbS must be considered before a diagnosis of sickle cell trait or sickle cell disease with beta-thalassemia is made. PMID:8980373

Craver, R D; Abermanis, J G; Warrier, R P; Ode, D L; Hempe, J M

1997-01-01

68

Laboratory investigation of platelet function in patients with thalassaemia.  

PubMed

The aim of this study was to investigate platelet function in patients with thalassaemia and to detect any relation to chelation treatment (deferasirox or deferiprone/deferiprone plus desferioxamine). Thirty-three transfusion-dependent patients with thalassaemia were included. The investigation consisted of aggregation testing of platelet-rich plasma by light transmission aggregometry (LTA) with the use of 5 agonists as well as the global test of haemostasis by means of the PFA-100 platelet function analyser. In 66.67% of the patients, there was reduced LTA to at least one agonist and in 18.18% there was reduced LTA to two or more agonists. The PFA-100 test was prolonged in 60.6% of the cases. An abnormal LTA and a prolonged PFA-100 time were recorded in 33.3% of the patients and 27.4% had a normal aggregation and PFA-100 test. No correlation between chelation regimen and either LTA or PFA-100 test was found. The abnormal LTA can be explained either by the release of ADP from the haemolysed red blood cells, which leads to defective platelet aggregation, or by the presence of two platelet populations. An in vitro effect without an in vivo impact could be an alternative explanation. In patients with thalassaemia, the reduced LTA and the prolonged PFA-100 closure time could be an in vitro effect and has a close correlation to the bleeding phenotype of each patient. PMID:24434633

Theodoridou, S; Economou, M; Vyzantiadis, T-A; Teli, A; Vlachaki, E; Neokleous, N; Kargioti, A; Vakalopoulou, S; Garypidou, V; Gombakis, N; Papachristou, F

2014-01-01

69

Red cell alloimmunization and autoantibodies in Egyptian transfusion-dependent thalassaemia patients  

PubMed Central

Introduction The objective of this study was to explore the frequency of red cell alloantibodies and autoantibodies among ?-thalassaemia patients who received regular transfusions. Material and methods This study included 501 patients with ?-thalassaemia. This work planned to study the presence of alloantibodies and autoantibodies to different red cell antigens in multitransfused thalassaemia patients using the ID. Card micro typing system. Results Of a total of 501 ?-thalassaemia patients included in the study, 11.3% of patients developed alloantibodies; 9.7% of these alloantibodies were clinically significant. The most common alloantibodies were anti-K, anti-E and anti-C. The rate of incidence of these alloantibodies was 3.9%, 3.3% and 1.7% respectively. Autoantibodies occurred in 28.8% of the patients and 22.1% of these antibodies were typed IgG. There was a significant association between splenectomy with alloimmunization and autoantibody formation (p = 0.03, p = 0.001 respectively). There was no significant association between alloantibody, autoantibody formation and number of transfused packed red cells. Conclusions Alloimmunization to minor erythrocyte antigens and erythrocyte autoantibodies of variable clinical significance are frequent findings in transfused ?-thalassaemia patients. There is an association between absence of the spleen and the presence of alloimmunization and autoantibody formation. PMID:22371805

Ahmed, Azza Mohamed; Ragab, Shadia Hassan; Habib, Sonia Adolf; Emara, Nahed Abdelmonem; Aly, Azza Ahmed

2010-01-01

70

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

PubMed

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

Sui, Suli; Sleeboom-Faulkner, Margaret

2010-02-01

71

Non-Invasive Haemoglobin Estimation in Patients with Thalassaemia Major  

PubMed Central

Objectives: This study aimed to validate pulse CO-oximetry-based haemoglobin (Hb) estimation in children and adults with thalassaemia major (TM) and to determine the impact of different baseline variables on the accuracy of the estimation. Methods: This observational study was conducted over a five-week period from March to April 2012. A total of 108 patients with TM attending the daycare thalassaemia centre of a tertiary care hospital in Muscat, Oman, were enrolled. Spot (Sp) Hb measurements were estimated using a Pronto-7® pulse CO-oximetry device (Masimo Corp., Irvine, California, USA). These were compared to venous samples of Hb using the CELL-DYN Sapphire Hematology Analyzer (Abbott Diagnostics, Abbott Park, Illinois, USA) to determine the reference (Ref) Hb levels. A multivariable linear regression model was used to assess the impact of baseline variables such as age, gender, weight, height, Ref Hb and blood pressure on the Hb estimations. Results: Of the 108 enrolled patients, there were 54 males and 54 females with a mean age of 21.6 years (standard deviation [SD] = 7.3 years; range: 2.5–38 years). The mean Ref Hb and Sp Hb were 9.4 g/dL (SD = 0.9 g/dL; range: 7.5–12.3 g/dL) and 11.1 g/dL (SD = 1.2 g/dL; range: 7.5–14.7 g/dL), respectively. The coefficient of determination (R2) was 21% with a mean difference of 1.7 g/dL (SD = 1.1 g/dL; range: ?0.9–4.3 g/dL). In the multivariable model, the Ref Hb level (P = 0.001) was the only statistically significant predictor. Conclusion: The Pronto-7® pulse CO-oximetry device was found to overestimate Hb levels in patients with TM and therefore cannot be recommended. Further larger studies are needed to confirm these results. PMID:25364548

Al Khabori, Murtadha K.; Al-Riyami, Arwa Z.; Al-Farsi, Khalil; Al-Huneini, Mohammed; Al-Hashim, Abdulhakeem; Al-Kemyani, Nasser; Al-Qarshoubi, Issa; Khan, Hammad; Al-Amrani, Khalfan; Daar, Shahina

2014-01-01

72

When to consider transfusion therapy for patients with non-transfusion-dependent thalassaemia.  

PubMed

Non-transfusion-dependent thalassaemia (NTDT) refers to all thalassaemia disease phenotypes that do not require regular blood transfusions for survival. Thalassaemia disorders were traditionally concentrated along the tropical belt stretching from sub-Saharan Africa through the Mediterranean region and the Middle East to South and South-East Asia, but global migration has led to increased incidence in North America and Northern Europe. Transfusionists may be familiar with ?-thalassaemia major because of the lifelong transfusions needed by these patients. Although patients with NTDT do not require regular transfusions for survival, they may require transfusions in some instances such as pregnancy, infection or growth failure. The complications associated with NTDT can be severe if not properly managed, and many are directly related to chronic anaemia. Awareness of NTDT is important, and this review will outline the factors that should be taken into consideration when deciding whether to initiate and properly plan for transfusion therapy in these patients in terms of transfusion interval and duration of treatment. PMID:25286743

Taher, A T; Radwan, A; Viprakasit, V

2015-01-01

73

Psychological Vulnerability and Resilience in Children and Adolescents with Thalassaemia Major  

Microsoft Academic Search

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

ASM FUNG; PWH LEE

2008-01-01

74

When to consider transfusion therapy for patients with non-transfusion-dependent thalassaemia  

PubMed Central

Non-transfusion-dependent thalassaemia (NTDT) refers to all thalassaemia disease phenotypes that do not require regular blood transfusions for survival. Thalassaemia disorders were traditionally concentrated along the tropical belt stretching from sub-Saharan Africa through the Mediterranean region and the Middle East to South and South-East Asia, but global migration has led to increased incidence in North America and Northern Europe. Transfusionists may be familiar with ?-thalassaemia major because of the lifelong transfusions needed by these patients. Although patients with NTDT do not require regular transfusions for survival, they may require transfusions in some instances such as pregnancy, infection or growth failure. The complications associated with NTDT can be severe if not properly managed, and many are directly related to chronic anaemia. Awareness of NTDT is important, and this review will outline the factors that should be taken into consideration when deciding whether to initiate and properly plan for transfusion therapy in these patients in terms of transfusion interval and duration of treatment. PMID:25286743

Taher, A T; Radwan, A; Viprakasit, V

2015-01-01

75

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

PubMed Central

Background The development of red blood cell (RBC) antibodies can significantly complicate transfusion therapy in transfusion-dependent patients with thalassaemia. However, few data are available on the frequency of RBC alloimmunisation in the Chinese population with ?-thalassaemia major. Materials and methods In this retrospective study, we investigated the development of RBC antibodies among Chinese patients with ?-thalassaemia major who had received long-term transfusion therapy with leucodepleted blood in our hospital over a period of 20 years. Results Of the 64 patients studied, six (9.4%) developed RBC alloantibodies, including four anti-E, one anti-C and one anti-“Mia”. All of the six alloimmunised patients had experienced previous transfusion reactions, while only 12 of the 58 non-immunised patients had had previous transfusion reactions (100% vs 15.5%; p <0.001). After subsequent transfusions with RBC which were negative for the antigens for the corresponding alloantibodies, all the RBC alloantibodies became undetectable within 1 year without additional interventions to eliminate them. Conclusions RBC alloantibodies in Chinese patients with ?-thalassaemia major in Taiwan were different from those in other populations. The development of RBC alloantibodies was associated with previous transfusion reactions. Additional treatment may not be necessary for patients with alloantibodies. PMID:22790261

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

2013-01-01

76

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

PubMed Central

The ?-haemoglobinopathies are the most prevalent inherited disorders worldwide. Gene therapy of ?-thalassaemia is particularly challenging given the requirement for massive haemoglobin production in a lineage-specific manner and the lack of selective advantage for corrected haematopoietic stem cells. Compound ?E/?0-thalassaemia is the most common form of severe thalassaemia in southeast Asian countries and their diasporas1,2. The ?E-globin allele bears a point mutation that causes alternative splicing. The abnormally spliced form is non-coding, whereas the correctly spliced messenger RNA expresses a mutated ?E-globin with partial instability1,2. When this is compounded with a non-functional ?0 allele, a profound decrease in ?-globin synthesis results, and approximately half of ?E/?0-thalassaemia patients are transfusion-dependent1,2. The only available curative therapy is allogeneic haematopoietic stem cell transplantation, although most patients do not have a human-leukocyte-antigen-matched, geno-identical donor, and those who do still risk rejection or graft-versus-host disease. Here we show that, 33 months after lentiviral ?-globin gene transfer, an adult patient with severe ?E/?0-thalassaemia dependent on monthly transfusions since early childhood has become trans-fusion independent for the past 21 months. Blood haemoglobin is maintained between 9 and 10 g dl–1, of which one-third contains vector-encoded ?-globin. Most of the therapeutic benefit results from a dominant, myeloid-biased cell clone, in which the integrated vector causes transcriptional activation of HMGA2 in erythroid cells with further increased expression of a truncated HMGA2 mRNA insensitive to degradation by let-7 microRNAs. The clonal dominance that accompanies therapeutic efficacy may be coincidental and stochasticor resultfrom a hithertobenign cellexpansion caused by dysregulation of the HMGA2 gene in stem/progenitor cells. PMID:20844535

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

2012-01-01

77

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

PubMed

The ?-haemoglobinopathies are the most prevalent inherited disorders worldwide. Gene therapy of ?-thalassaemia is particularly challenging given the requirement for massive haemoglobin production in a lineage-specific manner and the lack of selective advantage for corrected haematopoietic stem cells. Compound ?(E)/?(0)-thalassaemia is the most common form of severe thalassaemia in southeast Asian countries and their diasporas. The ?(E)-globin allele bears a point mutation that causes alternative splicing. The abnormally spliced form is non-coding, whereas the correctly spliced messenger RNA expresses a mutated ?(E)-globin with partial instability. When this is compounded with a non-functional ?(0) allele, a profound decrease in ?-globin synthesis results, and approximately half of ?(E)/?(0)-thalassaemia patients are transfusion-dependent. The only available curative therapy is allogeneic haematopoietic stem cell transplantation, although most patients do not have a human-leukocyte-antigen-matched, geno-identical donor, and those who do still risk rejection or graft-versus-host disease. Here we show that, 33 months after lentiviral ?-globin gene transfer, an adult patient with severe ?(E)/?(0)-thalassaemia dependent on monthly transfusions since early childhood has become transfusion independent for the past 21?months. Blood haemoglobin is maintained between 9 and 10?g?dl(-1), of which one-third contains vector-encoded ?-globin. Most of the therapeutic benefit results from a dominant, myeloid-biased cell clone, in which the integrated vector causes transcriptional activation of HMGA2 in erythroid cells with further increased expression of a truncated HMGA2 mRNA insensitive to degradation by let-7 microRNAs. The clonal dominance that accompanies therapeutic efficacy may be coincidental and stochastic or result from a hitherto benign cell expansion caused by dysregulation of the HMGA2 gene in stem/progenitor cells. PMID:20844535

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

2010-09-16

78

Effect of hydroxyurea on the transfusion requirements in patients with severe HbE-?-thalassaemia: a genotypic and phenotypic study  

Microsoft Academic Search

BackgroundHaemoglobin E (HbE)-?-thalassaemia has a very variable clinical presentation. The management of severe cases that are often transfusion dependent is similar to that of cases of ?-thalassaemia major; however, this is often not possible in India because of its high cost and the lack of availability of safe blood at many places. Thus there was a need for a drug

Khushnooma Y Italia; Farah F Jijina; Rashid Merchant; Sangeeta Panjwani; Anita H Nadkarni; Pratibha M Sawant; Sona B Nair; Kanjaksha Ghosh; Roshan B Colah

2010-01-01

79

Treosulfan-based conditioning regimen for allogeneic haematopoietic stem cell transplantation in patients with thalassaemia major.  

PubMed

The safety and efficacy of a preparation with treosulfan/thiotepa/fludarabine were explored in 20 thalassaemia patients given allogeneic marrow transplantation. Seventeen patients were transplanted from unrelated donors after receiving anti-thymocyte globulin. The regimen was well tolerated. Two patients experienced secondary graft failure; one died of acute graft-versus-host disease. Cumulative incidence (95% confidence interval, CI) of transplantation-related mortality and graft failure was 5% (95% CI, 0-34%) and 11% (95% CI, 3-43%), respectively. Two-year probability of survival and thalassaemia-free survival was 95% (95% CI, 85-100%) and 85% (95% CI, 66-100%), respectively. This regimen might find elective application in patients at high risk of developing life-threatening complications. PMID:18986389

Bernardo, Maria Ester; Zecca, Marco; Piras, Eugenia; Vacca, Adriana; Giorgiani, Giovanna; Cugno, Chiara; Caocci, Giovanni; Comoli, Patrizia; Mastronuzzi, Angela; Merli, Pietro; La Nasa, Giorgio; Locatelli, Franco

2008-11-01

80

Sequential Use of Deferiprone and Desferrioxamine in Primary School Children with Thalassaemia major in Turkey  

Microsoft Academic Search

The effectiveness of the sequential use of deferiprone and desferrioxamine (DFO) in children with thalassaemia major was examined. Seven thalassaemic children in whom urinary iron induced by deferiprone was sufficient to maintain a negative iron balance were enrolled in the long-term trial. Deferiprone at a dose of 75 mg\\/kd\\/day in 3 divided doses was given for 4 school days a

Y. Aydinok; G. Nisli; K. Kavakli; C. Coker; M. Kantar; N. Çetingül

1999-01-01

81

Effects of Deferiprone on Immune Status and Cytokine Pattern in Thalassaemia major  

Microsoft Academic Search

Objective: The present study was undertaken to evaluate the possible occurrence of immunological abnormalities in thalassaemia major patients treated with deferiprone (L1). Methods: Longitudinal observational cohort study. Results: The absolute number of CD8+ lymphocytes was high and the CD4\\/CD8 ratio low before L1 treatment; these parameters returned to normal after 3 months of L1 treatment. TNF-?, IL-2 and IL-2sR? were

Giovanni Carlo Del Vecchio; Federico Schettini; Laura Piacente; Attilio De Santis; Paola Giordano; Domenico De Mattia

2002-01-01

82

Human Traits  

NSDL National Science Digital Library

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

Irene Salter

2012-06-26

83

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

Microsoft Academic Search

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

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

1974-01-01

84

Co-inheritance of HbD (Iran)/Beta Thalassemia IVS1-5 (G > C) Trait in a Punjabi Lady with Diabetes.  

PubMed

The present report describes the molecular study of HbD (Iran) (beta) 22 Glu ? Gln associated with ?-Thalassemia IVS1-5 (G > C) found in India, and the first case in which mutation has been identified using mass spectrometry. Given the apparent ethnic origin and the mobility of the variant hemoglobin at alkaline pH, hemoglobin D-Punjab would be suspected, but HPLC excluded this possibility. Further characterization of hemoglobinopathy was made by using nondenaturing gel electrophoresis and matrix assisted laser desorption ionization mass spectrometry and IVS1-5 being validated by reverse dot blot hybridization followed by sequencing of the ?-globin gene. PMID:23543793

Bhat, Vijay S; Mandal, Amit Kumar; Mathew, Bobby

2012-04-01

85

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

PubMed

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 30 mg/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:-9·2 [-9·5%] and -105·7 ml/min [-17·8%], respectively). A similar pattern was observed during the long-term study (n = 5); mean GFR and RPF decreased up to Week 52 (-19·1 [-17·7%] and -155·6 ml/min [-26·1%]), with similar change at Week 104 (-18·4 [-17·2%] and -115·9 ml/min [-19·6%]). 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 2 years of treatment, with no progressive worsening of renal function over time. www.clinicaltrials.gov: NCT00560820. PMID:25402221

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

2014-11-17

86

Clinical efficacy and safety evaluation of tailoring iron chelation practice in thalassaemia patients from Asia-Pacific: a subanalysis of the EPIC study of deferasirox  

Microsoft Academic Search

Although thalassaemia is highly prevalent in the Asia-Pacific region, clinical data on efficacy and safety profiles of deferasirox\\u000a in patients from this region are rather limited. Recently, data from the multicentre Evaluation of Patients’ Iron Chelation\\u000a with Exjade (EPIC) study in 1744 patients with different anaemias has provided an opportunity to analyse 1115 thalassaemia\\u000a patients, of whom 444 patients were

Vip Viprakasit; Hishamshah Ibrahim; Shau-Yin Ha; Phoebe Joy Ho; Chi-Kong Li; Lee-Lee Chan; Chang-Fang Chiu; Pranee Sutcharitchan; Dany Habr; Gabor Domokos; Bernard Roubert; Hong-Ling Xue; Donald K. Bowden; Kai-Hsin Lin

2011-01-01

87

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

PubMed

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

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

2013-11-01

88

Sickle Cell Trait  

MedlinePLUS

... Disease (SCD) National Center Homepage Share Compartir Sickle Cell Trait New: Sickle Cell Trait Toolkit People who ... the trait on to their children. How Sickle Cell Trait is Inherited If both parents have SCT, ...

89

Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.  

PubMed

The rare association of alpha thalassaemia and mental retardation has been described previously. Molecular studies of the alpha globin cluster in these cases have been heterogeneous, with some patients having large deletions while in others the alpha globin complex appears to be intact (non-deletional). The non-deletional cases form a distinct group whose features include severe mental retardation, haematological changes of haemoglobin H (Hb H) disease, developmental defects, and unusual patterns of inheritance. To date, five cases have been described with non-deletional alpha thalassaemia-mental retardation. We present here a further example of a young male of Northern European origin who appears to have the non-deletional form of the disease. Clinical features included severe mental retardation, Hb H disease, and developmental defects similar to those reported previously. DNA mapping, including pulsed field electrophoresis, showed no evidence of deletions within the alpha globin cluster. Karyotypic analysis indicated an increase in random breakage, which has been observed previously in one case of deletional alpha thalassaemia-mental retardation. Profuse Hb H bodies and Hb H on electrophoresis were consistent with Hb H disease. However, the latter was present at a relatively low level (1.6%) and, as well, the mean corpuscular volume (82.8 fl) and mean corpuscular haemoglobin (26.4 pg) were surprisingly high. Our findings are compared to other cases described with the non-deletional Hb H-mental retardation syndrome. PMID:2231651

Harvey, M P; Kearney, A; Smith, A; Trent, R J

1990-09-01

90

Relationship of endocrinopathy to iron chelation status in young patients with thalassaemia major.  

PubMed Central

Disturbances of growth and development in patients with thalassaemia receiving hypertransfusion programmes are well recognised and are most likely to be due to iron overload. The extent of endocrine dysfunction was investigated in a group of 18 patients thought to have been treated by acceptable modern standards, 11 of whom could be considered as well chelated. Assessment of growth and puberty showed a wide variation in height SD scores with five patients having significantly short stature. Most patients are progressing through puberty normally with the exception of two boys with marked pubertal delay. The most prominent finding was that growth hormone responses to glucagon stimulation were significantly impaired in all of the patients with iron overload. Basal endocrine assessment showed primary hypothyroidism in two patients aged 16.8 and 12.9 years with plasma thyroxine-concentrations of 86 and 59 nmol/l (normal range 65-165 nmol/l) and plasma thyroid stimulating hormone 10.2 and 30.3 mU/l (normal range 0.5-5 mU/l). One patient had diabetes mellitus. These results show that even when ideal management is sought a significant amount of endocrine damage occurs; surveillance of these patients is thus essential. PMID:7944532

Grundy, R G; Woods, K A; Savage, M O; Evans, J P

1994-01-01

91

The Least-Squares Estimation of Latent Trait Variables.  

ERIC Educational Resources Information Center

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

Tatsuoka, Kikumi

92

X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.  

PubMed Central

Two sibs with non-deletional alpha thalassaemia and mental retardation (ATR-X) have been ascertained showing variable neurological features. The proband had a complex neurological picture with recurrent apnoea, complex partial seizures, and prolonged periods of semiconsciousness between 12 and 17 months of age. Episodes of spontaneous laughter were also a feature. An EEG was initially normal. Hb H inclusions were present but rare in this family. The sole genital anomaly was deficiency of the foreskin, a feature not previously described in ATR-X. Images PMID:8014976

Ogle, R; DeSouza, M; Cunningham, C; Kerr, B; Sillence, D

1994-01-01

93

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

PubMed

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

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

2014-12-26

94

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

PubMed

?-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

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

2014-10-01

95

Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases  

PubMed Central

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

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

2014-01-01

96

Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis.  

PubMed

In the near future the availability of non-invasive prenatal diagnosis (NIPD) for single gene disorders will change the prenatal diagnosis options available to couples who are carriers of conditions such as cystic fibrosis, sickle cell disorder and thalassaemia. Client opinions about NIPD are needed to inform the implementation of NIPD for single gene disorders. This qualitative study used two focus groups (n?=?12) and one-to-one interviews (n?=?16) with carriers and support group representatives of sickle cell disease, thalassaemia and cystic fibrosis. Discussions were digitally recorded, transcribed verbatim and analysed using thematic analysis. Opinions about NIPD were very positive and participants valued the opportunity to have safe and early testing. Uptake of prenatal testing is likely to increase as women who had previously declined invasive testing expressed interest in having NIPD. Participant concerns about NIPD centred on the need for accuracy to be high to be used for subsequent decision making about termination of pregnancy. Participants also raised concerns that less thought may be given to having a blood test compared to an invasive test and that the perceived ease of a blood test may bring increased pressure to have testing. Participants thought NIPD should be offered through existing specialist services to ensure appropriate genetic counseling and support. Maintaining all testing options is important as some people may prefer invasive testing over NIPD if invasive testing was more accurate or if invasive testing could give information about other conditions such as Down syndrome. PMID:24788196

Hill, Melissa; Compton, Cecilia; Karunaratna, Madhavi; Lewis, Celine; Chitty, Lyn

2014-12-01

97

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

PubMed

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

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

2012-01-01

98

FishTraits Database  

USGS Publications Warehouse

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.

Angermeier, Paul L.; Frimpong, Emmanuel A.

2009-01-01

99

cell trait? Know your sickle cell trait status.  

E-print Network

What is sickle cell trait? Know your sickle cell trait status. Engage in a slow and gradual experiencing unusual physical distress. People at high risk for having sickle cell trait are those whose countries. sickle cell trait is not a disease. Sickle cell trait is the inheritance of one gene for sickle

Devoto, Stephen H.

100

Deferasirox: a review of its use for chronic iron overload in patients with non-transfusion-dependent thalassaemia.  

PubMed

Deferasirox (Exjade(®)) is a once-daily orally administered iron chelator which has been approved for use in the treatment of transfusional-dependent chronic iron overload since 2005. Based primarily on the findings of the THALASSA (Assessment of Exjade(®) in Non-Transfusion-Dependent THALASSemiA) trial, the approval for deferasirox has recently been expanded to include the management of chronic iron overload in patients with non-transfusion-dependent thalassaemia (NTDT) syndromes. Despite the lack of regular blood transfusions, NTDT patients can still develop clinically relevant iron overload, primarily due to increased gastrointestinal absorption secondary to ineffective erythropoiesis, and may require chelation therapy. The THALASSA trial, the first placebo-controlled clinical trial of an iron chelator in NTDT patients, demonstrated that deferasirox was effective in reducing liver iron and serum ferritin levels in this population. Deferasirox has an acceptable tolerability profile, with the most common adverse events reported in the THALASSA trial being related to mild to moderate gastrointestinal disorders. Although further long-term studies will be required to clearly demonstrate the clinical benefit of chelation therapy in NTDT patients, deferasirox presents a useful tool in the management of iron overload in this population. PMID:24919862

Shirley, Matt; Plosker, Greg L

2014-06-01

101

The role of killer immunoglobulin-like receptor haplotypes on the outcome of unrelated donor haematopoietic SCT for thalassaemia.  

PubMed

Recent insight into the pathophysiology of acute GVHD after allogeneic haematopoietic SCT has led to a growing interest in the role of natural killer (NK) cells. NK cell cytotoxicity is mainly regulated by the interaction of activating and inhibitory killer immunoglobulin-like receptors (KIRs) with their respective ligands. To investigate the impact of KIRs and their ligands on haematopoietic SCT outcome, we performed a retrospective study of 78 transfusion-dependent thalassaemia patients (median age 10 years, range 1-29 years) transplanted from an unrelated donor selected using high-resolution molecular typing for both class I and II loci after a myeloablative conditioning regimen. GVHD prophylaxis consisted of CsA, short-term MTX and anti-thymocyte globulin in all patients. We found that patients transplanted from donors homozygous for KIR haplotype A had a greater risk of developing grade II-IV acute GVHD compared with those transplanted from a donor carrying at least one B haplotype (hazard ratio=4.5, 99% confidence interval=1.2-17.1, P=0.003). Our study suggests that KIR genotyping of donor and recipient pairs could contribute to the identification of patients at high risk for developing severe complications of haematopoietic SCT and thus may help with the choice of intensity of GVHD prophylaxis. PMID:20173792

Littera, R; Orrù, N; Vacca, A; Bertaina, A; Caocci, G; Mulargia, M; Giardini, C; Piras, E; Mastronuzzi, A; Vinti, L; Orrù, S; Locatelli, F; Carcassi, C; La Nasa, G

2010-11-01

102

Functional trait space and the latitudinal diversity gradient.  

PubMed

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

Lamanna, Christine; Blonder, Benjamin; Violle, Cyrille; Kraft, Nathan J B; Sandel, Brody; Šímová, Irena; Donoghue, John C; Svenning, Jens-Christian; McGill, Brian J; Boyle, Brad; Buzzard, Vanessa; Dolins, Steven; Jørgensen, 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

103

Functional trait space and the latitudinal diversity gradient  

PubMed Central

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

Lamanna, Christine; Blonder, Benjamin; Violle, Cyrille; Kraft, Nathan J. B.; Sandel, Brody; Šímová, Irena; Donoghue, John C.; Svenning, Jens-Christian; McGill, Brian J.; Boyle, Brad; Buzzard, Vanessa; Dolins, Steven; Jørgensen, 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

104

Beta Thalassemia  

MedlinePLUS

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

105

Developing Leadership Traits.  

ERIC Educational Resources Information Center

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)

Hall, Susan King

1980-01-01

106

Personality traits and its association with resting regional brain activity.  

PubMed

The association between personality and resting brain activity was investigated. Personality was assessed using the NEO-Five-factor Inventory (NEO-FFI) and resting brain activity was indexed by eyes closed EEG spectral magnitude from four frequency bands over the entire cortex. Results suggest that there are differences between males and females in the NEO-FFI personality traits. The NEO FFI traits were associated with lower frequency brain activity in both males and females. Mild significant and consistent associations were found between delta and theta activity across all cortical regions with Extraversion and Conscientiousness. There were few associations between personality traits and alpha and beta activity, this was shown in males only. Fewer associations between personality and faster frequency bands such as alpha may be due to the methodological problem of using fixed alpha bands. Multiple regression analyses showed that individual alpha frequencies had a greater contribution to personality traits than fixed band alpha waves. PMID:16019096

Tran, Yvonne; Craig, Ashley; Boord, Peter; Connell, Kathy; Cooper, Nicholas; Gordon, Evian

2006-06-01

107

A Recipe for Traits  

NSDL National Science Digital Library

In this genetics activity, learners create and decode a âDNA recipeâ for a dog by randomly selecting strips of paper that represent DNA. Then, learners decode the DNA recipe to reveal the physical traits of their dog and create a final drawing of the organism. Learners discover that differences in the DNA recipe lead to different traits by comparing their DNA recipes and dog drawings with the rest of the group to note similarities and differences. This guide features handouts for learners in English and Spanish.

Malone, Molly; Mitchell, April; Kiger, Steven

2006-01-01

108

Traits of Life  

NSDL National Science Digital Library

Traits of Life, a new collection of exhibits and demonstrations at San Francisco's Exploratorium, offers a fascinating look at the "fundamental elements common to all living things." Culminating from 3 years of research and development, the Traits of Life collection follows four themes: cells and DNA; reproduction; evolution; and energy consumption. This companion Web site offers cool interactive features for each theme, as well as articles, movies, interviews with experts, and more. Overall, this well-designed site offers a engaging way to "see past the diversity of living things to the underlying unity connecting us all."

109

A pale Chinese boy with recurrent painful digital swelling.  

PubMed

Thalassaemia is the most common haemoglobinopathy in the Chinese population. However, recurrent painful digital swelling is not a typical manifestation of this well-known hereditary condition. We describe a case of co-inheritance of beta-thalassaemia and sickle cell trait in a Chinese family and a child who suffered from sickle cell/beta-thalassaemia with recurrent dactylitis. This report highlights awareness of this rare condition in the Chinese population, since acute manifestations can be life-threatening and mimic other emergency conditions. Prompt management can prevent further complications and avoid unnecessary interventions due to delay in diagnosis. A detailed family history and examination of the patient's peripheral blood smear is crucial to reach a correct diagnosis. PMID:22477743

Cheng, Frankie W T; Leung, W K; Lee, Vincent; Ng, Margaret H L; Chu, Winnie C W; Huen, K F; Shing, M K; Li, C K

2012-04-01

110

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

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 2 years, 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

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

111

The human leucocyte antigen-G 14-basepair polymorphism correlates with graft-versus-host disease in unrelated bone marrow transplantation for thalassaemia.  

PubMed

The presence of the 14-bp insertion polymorphism of the human leucocyte antigen (HLA)-G gene (HLA-G) promotes immune tolerance through increased synthesis of HLA-G molecules. We investigated this polymorphism in a large cohort of 53 thalassaemia patients transplanted from an unrelated donor. Sixteen patients (30.2%) homozygous for the 14-bp deletion had a higher risk of developing acute graft-versus-host disease (aGvHD) than patients homozygous for the 14-bp insertion (-14-bp/-14-bp vs +14-bp/+14-bp: Relative Risk = 15.0; 95% confidence interval 1.59-141.24; P = 0.008). Therefore, the 14-bp polymorphism could be an important predictive factor for aGvHD following bone marrow transplantation. PMID:17897304

La Nasa, Giorgio; Littera, Roberto; Locatelli, Franco; Lai, Sara; Alba, Francesco; Caocci, Giovanni; Lisini, Daniela; Nesci, Sonia; Vacca, Adriana; Piras, Eugenia; Bernardo, Maria Ester; Di Cesare-Merlone, Alessandra; Orrù, Sandro; Carcassi, Carlo

2007-10-01

112

Clines in polygenic traits.  

PubMed

This article outlines theoretical models of clines in additive polygenic traits, which are maintained by stabilizing selection towards a spatially varying optimum. Clines in the trait mean can be accurately predicted, given knowledge of the genetic variance. However, predicting the variance is difficult, because it depends on genetic details. Changes in genetic variance arise from changes in allele frequency, and in linkage disequilibria. Allele frequency changes dominate when selection is weak relative to recombination, and when there are a moderate number of loci. With a continuum of alleles, gene flow inflates the genetic variance in the same way as a source of mutations of small effect. The variance can be approximated by assuming a Gaussian distribution of allelic effects; with a sufficiently steep cline, this is accurate even when mutation and selection alone are better described by the 'House of Cards' approximation. With just two alleles at each locus, the phenotype changes in a similar way: the mean remains close to the optimum, while the variance changes more slowly, and over a wider region. However, there may be substantial cryptic divergence at the underlying loci. With strong selection and many loci, linkage disequilibria are the main cause of changes in genetic variance. Even for strong selection, the infinitesimal model can be closely approximated by assuming a Gaussian distribution of breeding values. Linkage disequilibria can generate a substantial increase in genetic variance, which is concentrated at sharp gradients in trait means. PMID:10689800

Barton, N H

1999-12-01

113

A Tree of Genetic Traits  

NSDL National Science Digital Library

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

Molly Malone

2006-01-01

114

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

Microsoft Academic Search

Human brain oscillations represent important features of information processing and are highly heritable. A common feature of beta oscillations (13-28 Hz) is the critical involvement of networks of inhibitory interneurons as pacemakers, gated by -aminobutyric acid type A (GABAA) action. Advances in molecular and statistical genetics permit examination of quantitative traits such as the beta frequency of the human electroencephalogram

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

2002-01-01

115

An Inventory of My Traits  

NSDL National Science Digital Library

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

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

2006-01-01

116

Dog DNA---A Recipe for Traits  

NSDL National Science Digital Library

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

Perrault, Tanya

2012-02-20

117

Genetic Heteroscedasticity for Domestic Animal Traits  

E-print Network

Genetic Heteroscedasticity for Domestic Animal Traits Majbritt Felleki Faculty of Veterinary Medicine and Animal Science Department of Animal Breeding and Genetics Uppsala Doctoral Thesis Swedish #12;Genetic Heteroscedasticity for Domestic Animal Traits Abstract Animal traits differ not only

118

Exaggerated trait growth in insects.  

PubMed

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

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

2015-01-01

119

Delay discounting: Trait variable?  

PubMed Central

Delay discounting refers to the tendency for outcomes that are remote in time to have less value than more immediate outcomes. Steep discounting of delayed outcomes is associated with a variety of social maladies. The degree of sensitivity to delayed outcomes may be a stable and pervasive individual characteristic. In analyses of archival data, the present study found positive correlations between the degree of delay discounting for one outcome (as measured by the Area Under the Curve), and the degree of discounting for other outcomes. Along with additional evidence reviewed, these data suggest that delay discounting may be considered a personality trait. Recent research in epigenetics, neuroscience, and behavior suggests delay discounting may prove to be a beneficial target for therapeutic attempts to produce global reductions in impulsivity related to delay discounting. PMID:21385637

Odum, Amy L.

2012-01-01

120

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...

121

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

PubMed

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

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

2012-11-01

122

Assessment and management of iron overload in ?-thalassaemia major patients during the 21st century: a real-life experience from the Italian WEBTHAL project.  

PubMed

We conducted a cross-sectional study on 924 ?-thalassaemia major patients (mean age 30·1 years) treated at nine Italian centres using the WEBTHAL software, to evaluate real-life application of iron overload assessment and management standards. Serum ferritin <2500 ng/ml was a risk factor for never having liver iron concentration (LIC) measurement, while absence of cardiac disease and siderosis were risk factors for a delay in LIC measurement >2 years. Patients who never had a cardiac MRI (CMR) T2* measurement were <18 years, had iron intake ?0·4 mg/kg per day, or a serum ferritin <2500 ng/ml. A history of normal CMR T2* was the main risk factor for a delay in subsequent assessment of >2 years. Deferoxamine (22·8%) was more commonly used in patients with Hepatitis C Virus or high serum creatinine. Deferiprone (20·6%) was less commonly prescribed in patients with elevated alanine aminotransferase; while a deferoxamine + deferiprone combination (17·9%) was more commonly used in patients with serum ferritin >2500 ng/ml or CMR T2* <20 ms. Deferasirox (38·3%) was more commonly prescribed in patients <18 years, but less commonly used in those with heart disease or high iron intake. These observations largely echoed guidelines at the time, although some practices are expected to change in light of evolving evidence. PMID:23600689

Piga, Antonio; Longo, Filomena; Musallam, Khaled M; Cappellini, Maria Domenica; Forni, Gian Luca; Quarta, Giovanni; Chiavilli, Francesco; Commendatore, Francesca; Mulas, Sergio; Caruso, Vincenzo; Galanello, Renzo

2013-06-01

123

Targeted fetal hemoglobin induction for treatment of beta hemoglobinopathies.  

PubMed

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

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

2014-04-01

124

Beta Thalassemia (For Parents)  

MedlinePLUS

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

125

Beta-carotene  

MedlinePLUS

... seem to reduce the risk of esophageal cancer. Pancreatic cancer. Taking beta-carotene supplements alone or in combination ... doesn't seem to reduce the risk of pancreatic cancer. Side effects from chemotherapy. Increasing beta-carotene from ...

126

Gamma, Beta, Erf  

NSDL National Science Digital Library

This page includes the encyclopedia entries for gamma, beta and erf functions including factorials, binomials, gamma functions and inverses, differentiated gamma functions, beta functions and inverses, probability integrals and inverses, Frensnel integrals and exponential integrals.

127

Genetics Home Reference: Beta thalassemia  

MedlinePLUS

... Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central ... do people use for beta thalassemia? erythroblastic anemia mediterranean anemia microcytemia, beta type thalassemia, beta type For ...

128

Autism traits in the RASopathies  

PubMed Central

Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). Although the literature offers conflicting evidence for association of NF1 and autism, there has been no systematic evaluation of autism traits in the RASopathies as a class to support a role for germline Ras/MAPK activation in ASDs. Methods We examined the association of autism traits with NF1, NS, CS and CFC, comparing affected probands with unaffected sibling controls and subjects with idiopathic ASDs using the qualitative Social Communication Questionnaire (SCQ) and the quantitative Social Responsiveness Scale (SRS). Results Each of the four major RASopathies showed evidence for increased qualitative and quantitative autism traits compared with sibling controls. Further, each RASopathy exhibited a distinct distribution of quantitative social impairment. Levels of social responsiveness show some evidence of correlation between sibling pairs, and autism-like impairment showed a male bias similar to idiopathic ASDs. Conclusions Higher prevalence and severity of autism traits in RASopathies compared to unaffected siblings suggests that dysregulation of Ras/MAPK signalling during development may be implicated in ASD risk. Evidence for sex bias and potential sibling correlation suggests that autism traits in the RASopathies share characteristics with autism traits in the general population and clinical ASD population and can shed light on idiopathic ASDs. PMID:24101678

Adviento, Brigid; Corbin, Iris L; Widjaja, Felicia; Desachy, Guillaume; Enrique, Nicole; Rosser, Tena; Risi, Susan; Marco, Elysa J; Hendren, Robert L; Bearden, Carrie E; Rauen, Katherine A; Weiss, Lauren A

2014-01-01

129

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

PubMed

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

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

2014-06-01

130

Personality traits and anxiety symptoms: the multilevel trait predictor model.  

PubMed

Investigation of relations between personality traits and mental disorders can inform key issues in psychopathology research. However, it has been hindered by extensive correlations among the traits. Building on studies of affect-psychopathology relations (e.g., the tripartite model), an organizational framework is proposed to solve this problem with respect to anxiety pathology. To test the resulting model, associations between four traits (negative emotionality, positive emotionality, anxiety sensitivity, and negative evaluation sensitivity) and four anxiety symptoms (chronic worry, obsessive-compulsive symptoms, panic, and social anxiety) were examined in an undergraduate sample (N=907). Confirmatory factor analyses supported operationalizations of the constructs in this study. Examination of the trait-symptom links using hierarchical multiple regression analyses supported most of the predicted relations. Specifically, negative emotionality emerged as a general predictor that was significantly related to all four symptom dimensions. In contrast, anxiety sensitivity was specific to panic and worry, whereas negative evaluation sensitivity was specific to social anxiety and worry. Finally, positive emotionality was uniquely related to social anxiety. The model accounted for a substantial amount of variance in the symptoms and almost all of the covariation among them. PMID:17240351

Kotov, Roman; Watson, David; Robles, Jennifer P; Schmidt, Norman B

2007-07-01

131

Combined Expression Trait Correlations and Expression Quantitative Trait  

E-print Network

, Madison, Wisconsin, United States of America, 2 Department of Statistics, University of Wisconsin, Madison segregating for obesity and diabetes. By combining the correlation results with linkage mapping information otherwise be missed if we studied only mRNA traits with statistically significant linkages in this small

Yandell, Brian S.

132

[Gender differences in resting EEG related to Eysenk's Personality Traits].  

PubMed

EEG mapping was used to study gender differences in hemispheric organization related to personality (40 male and 42 female subjects, the students 17-20 ages). The results showed, that each clearly defined personality trait (neuroticism, extraversion, psychoticizm and social conformity) characterized by special EEG pattern differenced on men and women groups. At the same time, more close interaction of gender and neuroticism was observed, but gender and extraversion were less connected. Neuroticism related patterns of coherence in the alpha2- and beta2-bands were associated with an activity changes in anterior cortex in men but posterior--in women, at that the positive correlations were observed in the beta2-band in the former case and negative ones in the second. There are two opposing tendencies of the interaction between extraversion and gender in a modulation of the resting theta-rhythm: an increase of cortex connections in men and decrease ones in women. The specificity of spatial-temporal EEG patterns in men associated mostly with a psychoticizm value but in women--with a social conformism. In either case these personality traits related to activity of frontal cortex in the left hemisphere. PMID:15481382

Razumnikova, O M

2004-01-01

133

Genetic Analyses of Age at Onset Traits   

E-print Network

The identification of factors underlying complex trait variation is a major goal in the field of genetics. For normally distributed, fully observed trait data there are many well established statistical methods for ...

Anderson, Carl

2007-01-01

134

Fetal testosterone and autistic traits  

Microsoft Academic Search

Studies of amniotic testosterone in humans suggest that fetal testosterone (fT) is related to specific (but not all) sexually dimorphic aspects of cognition and behaviour. It has also been suggested that autism may be an extreme manifestation of some male-typical traits, both in terms of cognition and neuroanatomy. In this paper, we examine the possibility of a link between autistic

Bonnie Auyeung; Simon Baron-Cohen; Emma Ashwin; Rebecca Knickmeyer; Kevin Taylor; Gerald Hackett

2009-01-01

135

Freshwater Biological Traits Database (External Review Draft)  

EPA Science Inventory

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

136

Mapping the Epigenetic Basis of Complex Traits  

E-print Network

Mapping the Epigenetic Basis of Complex Traits Sandra Cortijo,1 * René Wardenaar,2 * Maria Colomé Johannes2 Quantifying the impact of heritable epigenetic variation on complex traits is an emerging that several of these differentially methylated regions (DMRs) act as bona fide epigenetic quantitative trait

Napp, Nils

137

Imperfect World of $\\beta\\beta$-decay Nuclear Data Sets  

E-print Network

The precision of double-beta ($\\beta\\beta$) 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 $\\beta\\beta$-decay T$_{1/2}^{2\

Pritychenko, B

2015-01-01

138

TRY – a global database of plant traits  

PubMed Central

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.

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

139

High Beta Tokamaks  

SciTech Connect

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

Cowley, S.

1998-11-14

140

BETA GAUGE OPERATION MANUAL  

EPA Science Inventory

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

141

Beta Coin Experiment  

NSDL National Science Digital Library

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

Siegrist, Kyle

142

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

SciTech Connect

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

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

2009-11-09

143

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...

144

Breeding for Grain Quality Traits  

Microsoft Academic Search

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

Lars Munck

145

5th- Heredity and Traits  

NSDL National Science Digital Library

These are a list of links and activities about Heredity and Traits. ACTIVITIES Where Did It Come From? (UEN) - Talks about the topics in the 5th grade science core. BEST PICK! Heredity (BrainPop) - Video and activities about Heredity. BEST PICK! Study Jams: Heredity - Video and short quiz about Heredity. BEST PICK! Dog Breeding (PBS Kids) - An interactive experience where you need to figure out which animals to breed to get ...

B, Miss

2011-11-11

146

Beta-ensembles with covariance  

E-print Network

This thesis presents analytic samplers for the [beta]-Wishart and [beta]-MANOVA ensembles with diagonal covariance. These generalize the [beta]-ensembles of Dumitriu-Edelman, Lippert, Killip-Nenciu, Forrester-Rains, and ...

Dubbs, Alexander

2014-01-01

147

Inadequate utilization of routine electronic RBC counts to identify beta thalassemia carriers.  

PubMed Central

We investigated physician awareness of the diagnosis of beta thalassemia minor as suggested by RBC indices obtained from routine electronic counts; and, the knowledge of the carriers of their genetic trait. Out of 17,000 counts, 324 were compatible with the diagnosis of beta thalassemia minor, but, only 175 (54 per cent) were identified by physicians as possibly thalassemic and in 47 of these (27 per cent) was the diagnosis verified. Twenty-four of 39 interviewed patients in whom the diagnosis of beta thalassemia minor was established knew about their carrier state. PMID:3177725

Shalev, O; Yehezkel, E; Rachmilewitz, E A

1988-01-01

148

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

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

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

149

Beta Estimate Experiment  

NSDL National Science Digital Library

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

Siegrist, Kyle

150

The stay-green trait.  

PubMed

Stay-green (sometimes staygreen) refers to the heritable delayed foliar senescence character in model and crop plant species. In a cosmetic stay-green, a lesion interferes with an early step in chlorophyll catabolism. The possible contribution of synthesis to chlorophyll turnover in cosmetic stay-greens is considered. In functional stay-greens, the transition from the carbon capture period to the nitrogen mobilization (senescence) phase of canopy development is delayed, and/or the senescence syndrome proceeds slowly. Yield and composition in high-carbon (C) crops such as cereals, and in high-nitrogen (N) species such as legumes, reflect the source-sink relationship with canopy C capture and N remobilization. Quantitative trait loci studies show that functional stay-green is a valuable trait for improving crop stress tolerance, and is associated with the domestication syndrome in cereals. Stay-green variants reveal how autumnal senescence and dormancy are coordinated in trees. The stay-green phenotype can be the result of alterations in hormone metabolism and signalling, particularly affecting networks involving cytokinins and ethylene. Members of the WRKY and NAC families, and an ever-expanding cast of additional senescence-associated transcription factors, are identifiable by mutations that result in stay-green. Empirical selection for functional stay-green has contributed to increasing crop yields, particularly where it is part of a strategy that also targets other traits such as sink capacity and environmental sensitivity and is associated with appropriate crop management methodology. The onset and progress of senescence are phenological metrics that show climate change sensitivity, indicating that understanding stay-green can contribute to the design of appropriate crop types for future environments. PMID:24600017

Thomas, Howard; Ougham, Helen

2014-07-01

151

Beta-thalassemia  

Microsoft Academic Search

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

Renzo Galanello; Raffaella Origa

2010-01-01

152

Genetic parameters of ascites-related traits in broilers: correlations with feed efficiency and carcase traits  

Microsoft Academic Search

1. Pulmonary hypertension syndrome followed by ascites is a metabolic disorder in broilers that occurs more often in fast-growing birds and at cool temperatures.2. Knowledge of the genetic relationships among ascites-related traits and performance traits like carcase traits or feed efficiency traits is required to design breeding programmes that aim to improve the degree of resistance to ascites syndrome as

A. Pakdel; J. A. M. Van Arendonk; A. L. J. Vereijken; H. Bovenhuis

2005-01-01

153

Self-Other Differences in Perceived Trait Consistency.  

ERIC Educational Resources Information Center

This study aims to determine whether trait categories are generally perceived as more applicable to others than to self. Subjects described themselves and two acquaintances on trait checklists, indicating not only placement on trait continuum but also perceived consistency of trait-related behavior. Positive, negative, and neutral traits were…

Sagar, H. Andrew

154

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...

155

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

Microsoft Academic Search

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

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

2000-01-01

156

Psychopathy and Trait Emotional Intelligence  

PubMed Central

Psychopathic individuals are infamous for their chronic and diverse failures of social adjustment despite their adequate intellectual abilities. Non-cognitive factors, in particular trait emotional intelligence (EI), offer one possible explanation for their lack of success. This study explored the association between psychopathy and EI, as measured by the Psychopathy Checklist – Revised (PCL-R; Hare, 2003) and Trait Meta-Mood Scale (TMMS, Salovey, Mayer, Golman, Turvey & Palfai, 1995). Consistent with the Response Modulation (RM) model of psychopathy (Newman & Lorenz, 2003), low-anxious psychopathic individuals had significantly lower scores on TMMS Repair and Attention compared to controls. Consistent with proposals by Patrick and Lang (1999) regarding PCL-R factors, these EI deficits related to different aspects of the psychopathy construct. Correlations revealed significant inverse associations between PCL-R factor 1 and Attention and PCL-R factor 2 and Repair. We propose that the multi-dimensional EI framework affords a complementary perspective on laboratory-based explanations of psychopathy. PMID:18438451

Malterer, Melanie B.; Glass, Samantha J.; Newman, Joseph P.

2008-01-01

157

A functional trait perspective on plant invasion  

PubMed Central

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

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

158

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 ...

159

Sickle Cell Trait, Exercise, and Altitude.  

ERIC Educational Resources Information Center

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

Eichner, Edward R.

1986-01-01

160

Trait-Based Perspectives of Leadership  

ERIC Educational Resources Information Center

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.…

Zaccaro, Stephen J.

2007-01-01

161

Cultural traits as units of analysis  

PubMed Central

Cultural traits have long been used in anthropology as units of transmission that ostensibly reflect behavioural characteristics of the individuals or groups exhibiting the traits. After they are transmitted, cultural traits serve as units of replication in that they can be modified as part of an individual's cultural repertoire through processes such as recombination, loss or partial alteration within an individual's mind. Cultural traits are analogous to genes in that organisms replicate them, but they are also replicators in their own right. No one has ever seen a unit of transmission, either behavioural or genetic, although we can observe the effects of transmission. Fortunately, such units are manifest in artefacts, features and other components of the archaeological record, and they serve as proxies for studying the transmission (and modification) of cultural traits, provided there is analytical clarity over how to define and measure the units that underlie this inheritance process. PMID:21041205

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

2010-01-01

162

Selection and evolution of causally covarying traits.  

PubMed

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

Morrissey, Michael B

2014-06-01

163

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

PubMed Central

Circular RNAs are new players in regulation of post transcriptional gene expression. Animal genomes express many circular RNAs from diverse genomic locations. A recent study has validated a fairly large number of circular RNAs in human, mouse, and nematode. Circular RNAs play a crucial role in fine tuning the level of miRNA mediated regulation of gene expression by sequestering the miRNAs. Their interaction with disease associated miRNAs indicates that circular RNAs are important for disease regulation. In this paper we studied the potential association of circular RNAs (circRNA) with human diseases in two different ways. Firstly, the interactions of circRNAs with disease associated miRNAs were identified, following which the likelihood of a circRNA being associated with a disease was calculated. For the miRNAs associated with individual diseases, we constructed a network of predicted interactions between the miRNAs and protein coding, long non-coding and circular RNA genes. We carried out gene ontology (GO) enrichment analysis on the set of protein coding genes in the miRNA- circRNA interactome of individual diseases to check the enrichment of genes associated with particular biological processes. Secondly, disease associated SNPs were mapped on circRNA loci, and Argonaute (Ago) interaction sites on circular RNAs were identified. We compiled a database of disease-circRNA association in Circ2Traits (http://gyanxet-beta.com/circdb/), the first comprehensive knowledgebase of potential association of circular RNAs with diseases in human. PMID:24339831

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

2013-01-01

164

Genetic parameters of ascites-related traits in broilers: correlations with feed efficiency and carcase traits.  

PubMed

(1) Pulmonary hypertension syndrome followed by ascites is a metabolic disorder in broilers that occurs more often in fast-growing birds and at cool temperatures. (2) Knowledge of the genetic relationships among ascites-related traits and performance traits like carcase traits or feed efficiency traits is required to design breeding programmes that aim to improve the degree of resistance to ascites syndrome as well as production traits. The objective of this study was to estimate these genetic correlations. (3) Three different experiments were set up to measure ascites-related traits (4202 birds), feed efficiency traits (2166 birds) and carcase traits (2036 birds). The birds in different experiments originated from the same group of parents, which enabled the estimation of genetic correlations among different traits. (4) The genetic correlation of body weight (BW) measured under normal conditions and in the carcase experiment with the ascites indicator trait of right ventricle to total ventricle ratio (RV:TV) measured under cold conditions was 0.30. The estimated genetic correlation indicated that single-trait selecting for BW leads to an increase in occurrence of the ascites syndrome but that there are realistic opportunities of multi-trait selection of birds for improved BW and resistance to ascites. (5) Weak but positive genetic relationships were found between feed efficiency and ascites-related traits suggesting that more efficient birds tend to be slightly more susceptible to ascites. (6) The relatively low genetic correlation between BW measured in the carcase or in the feed efficiency experiments and BW measured in the ascites experiment (0.49) showed considerable genotype by environment interaction. (7) These results indicate that birds with high genetic potential for growth rate under normal temperature conditions have lower growth rate under cold-stress conditions due to ascites. PMID:15835251

Pakdel, A; van Arendonk, J A M; Vereijken, A L J; Bovenhuis, H

2005-02-01

165

Applied Beta Dosimetry  

SciTech Connect

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

Rich, B.L.

1986-01-01

166

ChemTeacher: Beta Decay  

NSDL National Science Digital Library

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

2011-01-01

167

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

PubMed Central

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

Matzek, Virginia

2012-01-01

168

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

Microsoft Academic Search

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

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

2011-01-01

169

Testing for familial aggregation of functional traits  

PubMed Central

SUMMARY In a genetic epidemiology study of a trait, prior to collecting genetic data the foremost task is to test for familial aggregation and examine heritability. Recently, functional traits have drawn attentions from investigators. Here, to test for familial aggregation of a functional trait in family studies, a test constructed based on the leading functional principal component of heritability, which is a summary measure of temporal genetic variation in a functional trait is proposed. The p-value of the test can be approximated by a permutation procedure given the family structure. The asymptotic distribution of the test statistic is derived. Simulations are carried out to examine the size and the power of the test. Proposed methods are applied to the total cholesterol data in the Framingham Heart Study. PMID:19731232

Fang, Yixin; Wang, Yuanjia

2013-01-01

170

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...

171

Brief Genetics Report Quantitative Trait Loci for Obesity-and  

E-print Network

Brief Genetics Report Quantitative Trait Loci for Obesity- and Diabetes-Related Traits led to increases in obesity and type 2 diabetes. The examination of quantitative trait loci (QTLs) for both obesity- and diabetes-related traits and their responses to a high-fat diet can be effectively

Cheverud, James M.

172

Modeling the Genetic Architecture of Complex Traits With Molecular Markers  

Microsoft Academic Search

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

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

2007-01-01

173

Psychopathic personality traits and risky sexual behavior in college students  

Microsoft Academic Search

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

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

2010-01-01

174

Fear inhibition in high trait anxiety.  

PubMed

Trait anxiety is recognized as an individual risk factor for the development of anxiety disorders but the neurobiological mechanisms remain unknown. Here we test whether trait anxiety is associated with impaired fear inhibition utilizing the AX+/BX- conditional discrimination procedure that allows for the independent evaluation of startle fear potentiation and inhibition of fear. Sixty undergraduate students participated in the study--High Trait Anxious: n?=?28 and Low Trait Anxious: n?=?32. We replicated earlier findings that a transfer of conditioned inhibition for startle responses requires contingency awareness. However, contrary to the fear inhibition hypothesis, our data suggest that high trait anxious individuals show a normal fear inhibition of conditioned startle responding. Only at the cognitive level the high trait anxious individuals showed evidence for impaired inhibitory learning of the threat cue. Together with other findings where impaired fear inhibition was only observed in those PTSD patients who were either high on hyperarousal symptoms or with current anxiety symptoms, we question whether impaired fear inhibition is a biomarker for the development of anxiety disorders. PMID:24454969

Kindt, Merel; Soeter, Marieke

2014-01-01

175

Thermophilic Beta-Glycosidase  

NASA Technical Reports Server (NTRS)

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

Grogan, Dennis W.

1992-01-01

176

Interactions between killer immunoglobulin-like receptors and their human leucocyte antigen Class I ligands influence the outcome of unrelated haematopoietic stem cell transplantation for thalassaemia: a novel predictive algorithm.  

PubMed

In a study conducted on 114 patients undergoing unrelated donor haematopoietic stem cell transplantation (HSCT) for thalassaemia, we observed that the lack of activating killer immunoglobulin-like receptors (KIRs) on donor natural killer (NK) cells significantly increased the risk of graft-versus-host disease (GvHD) [hazard risk (HR) 4.2, 95% confidence interval (CI) 1.7-10.1, P = 0.002] and transplantation-related mortality (HR 4.7, 95% CI 1.6-14.2, P = 0.01). The risk of GvHD furthermore increased when recipients heterozygous for HLA-C KIR ligand groups (C1/C2) were transplanted from donors completely lacking activating KIRs (HR 6.1, 95% CI 1.9-19.2, P = 0.002). We also found that the risk of rejection was highest when the recipient was homozygous for the C2 HLA-KIR ligand group and the donor carried two or more activating KIRs (HR 6.8, 95% CI 1.9-24.4, P = 0.005). By interpolating the number of donor activating KIRs with recipient HLA-C KIR ligands, we created an algorithm capable of stratifying patients according to the immunogenetic risk of complications following unrelated HSCT. In clinical practice, this predictive tool could serve as an important supplement to clinical judgement and decision-making. PMID:22077388

Littera, Roberto; Orrù, Nicola; Caocci, Giovanni; Sanna, Marco; Mulargia, Marina; Piras, Eugenia; Vacca, Adriana; Giardini, Claudio; Orofino, Maria G; Visani, Giuseppe; Bertaina, Alice; Giorgiani, Giovanna; Locatelli, Franco; Carcassi, Carlo; La Nasa, Giorgio

2012-01-01

177

Trait stacking via targeted genome editing.  

PubMed

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

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

2013-12-01

178

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...

179

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...

180

Sex as aSex as a Threshold TraitThreshold Trait  

E-print Network

1 Sex as aSex as a Threshold TraitThreshold Trait Overturning traditional paradigms on evolution and modes of sex determination in reptiles Arthur GeorgesArthur Georges Institute for Applied EcologyInstitute for Applied Ecology University of CanberraUniversity of Canberra We all agree that sex is a fundamental

Canberra, University of

181

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

E-print Network

their natural enemies. Among them, the EICA (Evolution of Increased Competitive Ability) hypothesis is the mostInvasive Plants and Enemy Release: Evolution of Trait Means and Trait Correlations in Ulex influential. It states that, due to enemy release, exotic plants evolve a shift in resource allocation from

Paris-Sud XI, Université de

182

Conceptual Note on State, Trait, and the State-Trait Distinction  

Microsoft Academic Search

In response to recent controversy over the empirical and conceptual viability of the state-trait distinction, the conceptual bases of the distinction are explicated, with the conclusion that the distinction, though more complex than previously appreciated, is conceptually viable. Rather than attempting to reduce the state-trait distinction to a single dimension, I propose four overlapping but distinct dimensions as underlying current

Bram M. Fridhandler

1986-01-01

183

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

PubMed Central

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

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

2014-01-01

184

Relationship between Oscillatory Neuronal Activity during Reward Processing and Trait Impulsivity and Sensation Seeking  

PubMed Central

Background The processing of reward and punishment stimuli in humans appears to involve brain oscillatory activity of several frequencies, probably each with a distinct function. The exact nature of associations of these electrophysiological measures with impulsive or risk-seeking personality traits is not completely clear. Thus, the aim of the present study was to investigate event-related oscillatory activity during reward processing across a wide spectrum of frequencies, and its associations with impulsivity and sensation seeking in healthy subjects. Methods During recording of a 32-channel EEG 22 healthy volunteers were characterized with the Barratt Impulsiveness and the Sensation Seeking Scale and performed a computerized two-choice gambling task comprising different feedback options with positive vs. negative valence (gain or loss) and high or low magnitude (5 vs. 25 points). Results We observed greater increases of amplitudes of the feedback-related negativity and of activity in the theta, alpha and low-beta frequency range following loss feedback and, in contrast, greater increase of activity in the high-beta frequency range following gain feedback. Significant magnitude effects were observed for theta and delta oscillations, indicating greater amplitudes upon feedback concerning large stakes. The theta amplitude changes during loss were negatively correlated with motor impulsivity scores, whereas alpha and low-beta increase upon loss and high-beta increase upon gain were positively correlated with various dimensions of sensation seeking. Conclusions The findings suggest that the processing of feedback information involves several distinct processes, which are subserved by oscillations of different frequencies and are associated with different personality traits. PMID:24376698

Andreou, Christina; Karamatskos, Evangelos; Ertl, Matthias; Naber, Dieter; Mulert, Christoph

2013-01-01

185

Mapping epistatic quantitative trait loci.  

PubMed

BackgroundHow to map quantitative trait loci (QTL) with epistasis efficiently and reliably has been a persistent problem for QTL mapping analysis. There are a number of difficulties for studying epistatic QTL. Linkage can impose a significant challenge for finding epistatic QTL reliably. If multiple QTL are in linkage and have interactions, searching for QTL can become a very delicate issue. A commonly used strategy that performs a two-dimensional genome scan to search for a pair of QTL with epistasis can suffer from low statistical power and also may lead to false identification due to complex linkage disequilibrium and interaction patterns.ResultsTo tackle the problem of complex interaction of multiple QTL with linkage, we developed a three-stage search strategy. In the first stage, main effect QTL are searched and mapped. In the second stage, epistatic QTL that interact significantly with other identified QTL are searched. In the third stage, new epistatic QTL are searched in pairs. This strategy is based on the consideration that most genetic variance is due to the main effects of QTL. Thus by first mapping those main-effect QTL, the statistical power for the second and third stages of analysis for mapping epistatic QTL can be maximized. The search for main effect QTL is robust and does not bias the search for epistatic QTL due to a genetic property associated with the orthogonal genetic model that the additive and additive by additive variances are independent despite of linkage. The model search criterion is empirically and dynamically evaluated by using a score-statistic based resampling procedure. We demonstrate through simulations that the method has good power and low false positive in the identification of QTL and epistasis.ConclusionThis method provides an effective and powerful solution to map multiple QTL with complex epistatic pattern. The method has been implemented in the user-friendly computer software Windows QTL Cartographer. This will greatly facilitate the application of the method for QTL mapping data analysis. PMID:25367219

Laurie, Cecelia; Wang, Shengchu; Carlini-Garcia, Luciana; Zeng, Zhao-Bang

2014-11-01

186

The trait emotional intelligence of ballet dancers and musicians.  

PubMed

Trait emotional intelligence ('trait EI' or 'trait emotional self-efficacy') is a constellation of emotion-related self-perceptions and dispositions comprising the affective aspects of normal adult personality. The two studies in this paper investigate the construct validity of trait EI, as operationalized by the Trait Emotional Intelligence Questionnaire (TEIQue). In Study 1 (34 ballet students; 5 ballet teachers), we found moderate to high levels of convergence between self and other ratings of trait EI and a positive relationship between trait EI scores and ballet dancing ability ratings. In Study 2 (37 music students), we found a positive relationship between trait EI scores and length of musical training. Overall, the results support our conceptualization of trait EI as a construct of general emotionality and the validity of the TEIQue as the construct's measurement vehicle. PMID:17295965

Petrides, K V; Niven, Lisa; Mouskounti, Thalia

2006-01-01

187

Epistasis for quantitative traits in Drosophila.  

PubMed

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

Mackay, Trudy F C

2015-01-01

188

Trait mindfulness and autobiographical memory specificity.  

PubMed

Training in mindfulness skills has been shown to increase autobiographical memory specificity. The aim of this study was to examine whether there is also an association between individual differences in trait mindfulness and memory specificity using a non-clinical student sample (N = 70). Also examined were the relationships between other memory characteristics and trait mindfulness, self-reported depression and rumination. Participants wrote about 12 autobiographical memories, which were recalled in response to emotion word cues in a minimal instruction version of the Autobiographical Memory Test, rated each memory for seven characteristics, and completed the Freiburg Mindfulness Inventory, the Depression, Anxiety, and Stress Scale, and the Ruminative Responses Scale. Higher rumination scores were associated with more reliving and more intense emotion during recall. Depression scores were not associated with any memory variables. Higher trait mindfulness was associated with lower memory specificity and with more intense and more positive emotion during recall. Thus, trait mindfulness is associated with memory specificity, but the association is opposite to that found in mindfulness training studies. It is suggested that this difference may be due to an influence of trait mindfulness on memory encoding as well as retrieval processes and an influence on the mode of self-awareness that leads to a greater focus on momentary rather than narrative self-reference. PMID:25120213

Crawley, Rosalind

2015-02-01

189

Neutron Induced Beta Radiography  

SciTech Connect

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

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

2011-07-15

190

Mapping the epigenetic basis of complex traits.  

PubMed

Quantifying the impact of heritable epigenetic variation on complex traits is an emerging challenge in population genetics. Here, we analyze a population of isogenic Arabidopsis lines that segregate experimentally induced DNA methylation changes at hundreds of regions across the genome. We demonstrate that several of these differentially methylated regions (DMRs) act as bona fide epigenetic quantitative trait loci (QTL(epi)), accounting for 60 to 90% of the heritability for two complex traits, flowering time and primary root length. These QTL(epi) are reproducible and can be subjected to artificial selection. Many of the experimentally induced DMRs are also variable in natural populations of this species and may thus provide an epigenetic basis for Darwinian evolution independently of DNA sequence changes. PMID:24505129

Cortijo, Sandra; Wardenaar, René; Colomé-Tatché, Maria; Gilly, Arthur; Etcheverry, Mathilde; Labadie, Karine; Caillieux, Erwann; Hospital, Fréderic; Aury, Jean-Marc; Wincker, Patrick; Roudier, François; Jansen, Ritsert C; Colot, Vincent; Johannes, Frank

2014-03-01

191

Genome Informed Trait-Based Models  

NASA Astrophysics Data System (ADS)

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.

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

2013-12-01

192

Quantitative trait locus analysis of multiple agronomic traits in the model legume Lotus japonicus.  

PubMed

The first quantitative trait locus (QTL) analysis of multiple agronomic traits in the model legume Lotus japonicus was performed with a population of recombinant inbred lines derived from Miyakojima MG-20 x Gifu B-129. Thirteen agronomic traits were evaluated in 2004 and 2005: traits of vegetative parts (plant height, stem thickness, leaf length, leaf width, plant regrowth, plant shape, and stem color), flowering traits (flowering time and degree), and pod and seed traits (pod length, pod width, seeds per pod, and seed mass). A total of 40 QTLs were detected that explained 5%-69% of total variation. The QTL that explained the most variation was that for stem color, which was detected in the same region of chromosome 2 in both years. Some QTLs were colocated, especially those for pod and seed traits. Seed mass QTLs were located at 5 locations that mapped to the corresponding genomic positions of equivalent QTLs in soybean, pea, chickpea, and mung bean. This study provides fundamental information for breeding of agronomically important legume crops. PMID:17893740

Gondo, Takahiro; Sato, Shusei; Okumura, Kenji; Tabata, Satoshi; Akashi, Ryo; Isobe, Sachiko

2007-07-01

193

Beta section Beta: biogeographical patterns of variation and taxonomy  

Microsoft Academic Search

In Chapter 1 an account is given of the historical subdivision of the genus Beta and its sections, and the relations of the sections are discussed. Emphasis is given to the taxonomic treatment of wild section Beta by various authors. The Linnaean names B. vulgaris L. and B. maritima L. are lectotypified, resp. neotypified as a basis for a new

J. P. W. Letschert

1993-01-01

194

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

SciTech Connect

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.

Schork, N.J.; Boehnke, M. (Univ. of Michigan, Ann Arbor, MI (United States)); Terwilliger, J.D.; Ott, J. (Columbia Univ., New York, NY (United States))

1993-11-01

195

Personality traits of aggression-submissiveness and perfectionism associate with ABO blood groups through catecholamine activities.  

PubMed

Personality trait research has shown associations with many genes, prominently those of the catecholamine metabolism such as dopamine beta hydroxylase (DBH), catechol-O-methyltransferase (COMT), and monoamine oxidase A (MAOA). Because DBH gene is in linkage disequilibrium with ABO gene, there is reason to think that other catecholamine genes using the same substrate as DBH may also have associations with ABO blood groups, and this paper demonstrates how this may be so. Reasons include similarities in hapmap population frequency distributions, similarities in illness risks between ABO blood groups and DBH activities as well as between ABO blood groups and COMT activities and between ABO blood groups and MAOA activities. If ABO blood groups can be demonstrated to associate with all these catecholamine genes, then the catecholamine personality trait research can be applied to ABO blood groups and tested for confirmation. ABO blood typing is widely available and affords ability to test this hypothesis and thus confirm the possible joint association of personality traits of aggression-submissiveness and perfectionism to catecholamine genes and to ABO blood groups. Clinical applications and implications are discussed. PMID:21601990

Hobgood, Donna K

2011-08-01

196

Beta Beams for Neutrino Production  

Microsoft Academic Search

This paper gives an overview of the work done so far to produce sufficient neutrino fluxes for neutrino oscillation physics using beta beams. The design study on a beta beam scenario, the EURISOL (European Isotope Separation On-Line Radioactive Ion Beam Facility) Design Study, a project funded by the European Commission (EC), is now ready to be published. The study is

Elena Wildner; Elena

2010-01-01

197

Amyloid Beta Mediates Memory Formation  

ERIC Educational Resources Information Center

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

Garcia-Osta, Ana; Alberini, Cristina M.

2009-01-01

198

WebBrain (Beta)  

NSDL National Science Digital Library

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

199

Unusual occurrence of dentoalveolar manifestations in a case with beta thalassemia trait.  

PubMed

A case of thalassemia minor with dentoalveolar manifestations in a 22-year-old Iranian male is presented. On the basis of patient complaint of upper incisors mobility, radiographic examination was performed which revealed enlarged medullary space, thin lamina dura, prominent antegonial notch, spiky and short roots of upper incisors and a generalized root resorption. This is the second report of dentoalveolar changes in regard to a minor hemoglubinopathy disorder. In this case treatment was carried out with 1 mg per day oral folic acid for 2 months which relived patient complaint as well as some radiographic changes. PMID:24984659

Alireza, Farhad; Maryam, Allameh

2014-06-01

200

Character Trait Vocabulary: A Schoolwide Approach  

ERIC Educational Resources Information Center

Research has documented the large differences in young children's vocabulary knowledge. In light of the strong relationship between vocabulary knowledge and reading comprehension, this gap is particularly worrisome and points to the critical need for well-articulated vocabulary instruction across the grades. The author describes character trait

Manyak, Patrick

2007-01-01

201

Flexible Emotional Responsiveness in Trait Resilience  

PubMed Central

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

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

2011-01-01

202

State and Trait Emotions in Delinquent Adolescents  

ERIC Educational Resources Information Center

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

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

2007-01-01

203

The Economics and Psychology of Personality Traits  

ERIC Educational Resources Information Center

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…

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

2008-01-01

204

Trait Affect and Job Search Outcomes  

ERIC Educational Resources Information Center

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

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

2006-01-01

205

CHAPTER NINE Progressive levels of trait divergence  

E-print Network

an environmental gradient of water clarity in Lake Victoria. I will subsequently refer to this as a `speciationCHAPTER NINE Progressive levels of trait divergence along a `speciation transect' in the Lake Victoria cichlid fish Pundamilia ole seehausen Introduction and outline Identifying mechanisms

206

Characterizing psychopathy using DSM-5 personality traits.  

PubMed

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

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

2013-06-01

207

The neural signatures of distinct psychopathic traits  

Microsoft Academic Search

Recent studies suggest that psychopathy may be associated with dysfunction in the neural circuitry supporting both threat- and reward-related processes. However, these studies have involved small samples and often focused on extreme groups. Thus, it is unclear to what extent current findings may generalize to psychopathic traits in the general population. Furthermore, no studies have systematically and simultaneously assessed associations

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

2012-01-01

208

Genetics of Complex Traits in Psychiatry.  

PubMed

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 and copy number variants 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 more recently, approaches to complex traits were limited, and consequently only a few variants, usually of individually minor effect, were identified. At the present time, a much richer armamentarium exists that includes the routine application of genome-wide association studies and next-generation high-throughput sequencing 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 advanced the field substantially, and promise formidable gains in the years to come as they are applied more widely. PMID:25444161

Gelernter, Joel

2015-01-01

209

Birth Order Positions and Personality Traits.  

ERIC Educational Resources Information Center

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

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

210

Sickle Cell Trait and Scholastic Achievement  

ERIC Educational Resources Information Center

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

Jackson, Yvonne; Ayrer, James

1974-01-01

211

Student Personality Traits and Values across Generations.  

ERIC Educational Resources Information Center

Assessed possible generational differences in student personality traits and values by analyzing four samples of college freshmen (N=317) who had completed the Omnibus Personality Inventory at intervals spanning 1969 through 1987. Found a linear increase in impulsivity during that period was the strongest of the observed shifts. (Author/ABL)

Lavin, Thomas J.; Prull, Richard W.

1989-01-01

212

Personality Traits, Television Viewing, and the Cultivation Effect  

Microsoft Academic Search

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

Robin L. Nabi; Karyn Riddle

2008-01-01

213

On the criterion and incremental validity of trait emotional intelligence  

Microsoft Academic Search

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

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

2007-01-01

214

Original Article Autistic-like and schizotypal traits in a life history perspective  

E-print Network

-like traits Diametrical model Impulsivity Life history strategy Schizotypal traits Sexual selection-like and schizotypal traits would be diametrically associated with unrestricted sociosexuality, impulsivityOriginal Article Autistic-like and schizotypal traits in a life history perspective: diametrical

Maestripieri, Dario

215

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

PubMed

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

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

2014-12-01

216

Research article Measuring natural selection on proportional traits  

E-print Network

Research article Measuring natural selection on proportional traits: comparisons of three types: I. Olivieri Abstract. To compare the strength of natural selection on different traits a useful tool for studying natural selection on proportional traits, because by definition they measure how

Stinchcombe, John

217

Life history of a malaria parasite (Plasmodium mexicanum): independent traits  

E-print Network

Life history of a malaria parasite (Plasmodium mexicanum): independent traits and basis infections in the life-history traits which de¢ne its blood-dwelling stages. Such variation in life histories¡ects producing the variation.We studied 11 life-history traits in 120 induced infections of P. mexicanum in its

Schall, Joseph J.

218

Do Individuals with Autism Spectrum Disorders Infer Traits from Behavior?  

ERIC Educational Resources Information Center

Background: Traits and mental states are considered to be inter-related parts of theory of mind. Attribution research demonstrates the influential role played by traits in social cognition. However, there has been little investigation into how individuals with autism spectrum disorders (ASD) understand traits. Method: The ability of individuals…

Ramachandran, Rajani; Mitchell, Peter; Ropar, Danielle

2009-01-01

219

Short-Term Stability of Psychopathic Traits in Adolescent Offenders  

ERIC Educational Resources Information Center

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

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

2009-01-01

220

Robust Trait Composition for Javascript$ Tom Van Cutsema  

E-print Network

Robust Trait Composition for Javascript$ Tom Van Cutsema , Mark S. Millerb aSoftware Languages Lab trait composition library for Javascript. Traits are a more robust alternative to multiple inheritance in using and extending Javascript's recently added meta-level object description format. By reusing

Tomkins, Andrew

221

Generality of Leaf Trait Relationships: A Test across Six Biomes  

Microsoft Academic Search

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

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

1999-01-01

222

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 (...

223

Identification of trait-improving quantitative trait loci alleles from a wild rice relative, Oryza rufipogon.  

PubMed Central

Wild species are valued as a unique source of genetic variation, but they have rarely been used for the genetic improvement of quantitative traits. To identify trait-improving quantitative trait loci (QTL) alleles from exotic species, an accession of Oryza rufipogon, a relative of cultivated rice, was chosen on the basis of a genetic diversity study. An interspecific BC2 testcross population (V20A/O. rufipogon//V20B///V20B////Ce64) consisting of 300 families was evaluated for 12 agronomically important quantitative traits. The O. rufipogon accession was phenotypically inferior for all 12 traits. However, transgressive segregants that outperformed the original elite hybrid variety, V20A/Ce64, were observed for all traits examined. A set of 122 RFLP and microsatellite markers was used to identify QTL. A total of 68 significant QTL were identified, and of these, 35 (51%) had beneficial alleles derived from the phenotypically inferior O. rufipogon parent. Nineteen (54%) of these beneficial QTL alleles were free of deleterious effects on other characters. O. rufipogon alleles at two QTL on chromosomes 1 and 2 were associated with an 18 and 17% increase in grain yield per plant, respectively, without delaying maturity or increasing plant height. This discovery suggests that the innovative use of molecular maps and markers can alter the way geneticists utilize wild and exotic germplasm. PMID:9755218

Xiao, J; Li, J; Grandillo, S; Ahn, S N; Yuan, L; Tanksley, S D; McCouch, S R

1998-01-01

224

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

NASA Astrophysics Data System (ADS)

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.

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

2014-05-01

225

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

PubMed Central

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

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

2012-01-01

226

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

PubMed

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

Funk, Jennifer L; Cornwell, William K

2013-09-01

227

Genetic Selection for Health Traits Using Producer-Recorded Data. II. Genetic Correlations, Disease Probabilities, and Relationships with Existing Traits  

Microsoft Academic Search

The objectives of this study were to calculate genetic correlations between health traits that were recorded in on-farm herd management software programs and to assess relationships between these traits and other traits that are routinely evaluated in US dairy sires. Data consisted of 272,576 lactation incidence records for displaced abomasum (DA), ketosis (KET), mastitis (MAST), lameness (LAME), cystic ovaries (CYST),

N. R. Zwald; K. A. Weigel; Y. M. Chang; R. D. Welper; J. S. Clay

2004-01-01

228

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

SciTech Connect

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

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

2010-11-24

229

Variants of beta-glucosidase  

DOEpatents

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

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

2009-12-29

230

Variants of beta-glucosidases  

DOEpatents

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

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

2008-08-19

231

Variants of beta-glucosidases  

DOEpatents

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

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

2014-10-07

232

Going underground: root traits as drivers of ecosystem processes.  

PubMed

Ecologists are increasingly adopting trait-based approaches to understand how community change influences ecosystem processes. However, most of this research has focussed on aboveground plant traits, whereas it is becoming clear that root traits are important drivers of many ecosystem processes, such as carbon (C) and nutrient cycling, and the formation and structural stability of soil. Here, we synthesise emerging evidence that illustrates how root traits impact ecosystem processes, and propose a pathway to unravel the complex roles of root traits in driving ecosystem processes and their response to global change. Finally, we identify research challenges and novel technologies to address them. PMID:25459399

Bardgett, Richard D; Mommer, Liesje; De Vries, Franciska T

2014-12-01

233

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

PubMed

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

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

2013-11-01

234

Network-based Analysis of Genome Wide Association Data Provides Novel Candidate Genes for Lipid and Lipoprotein Traits*  

PubMed Central

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

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

2013-01-01

235

Plant functional traits and the multidimensional nature of species coexistence.  

PubMed

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

Kraft, Nathan J B; Godoy, Oscar; Levine, Jonathan M

2015-01-20

236

Questions Students Ask: Beta Decay.  

ERIC Educational Resources Information Center

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)

Koss, Jordan; Hartt, Kenneth

1988-01-01

237

Detecting epistasis in human complex traits.  

PubMed

Genome-wide association studies (GWASs) have become the focus of the statistical analysis of complex traits in humans, successfully shedding light on several aspects of genetic architecture and biological aetiology. Single-nucleotide polymorphisms (SNPs) are usually modelled as having additive, cumulative and independent effects on the phenotype. Although evidently a useful approach, it is often argued that this is not a realistic biological model and that epistasis (that is, the statistical interaction between SNPs) should be included. The purpose of this Review is to summarize recent directions in methodology for detecting epistasis and to discuss evidence of the role of epistasis in human complex trait variation. We also discuss the relevance of epistasis in the context of GWASs and potential hazards in the interpretation of statistical interaction terms. PMID:25200660

Wei, Wen-Hua; Hemani, Gibran; Haley, Chris S

2014-11-01

238

Human Genetics and the Dominant Trait  

NSDL National Science Digital Library

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

Koen, Joshua

2007-10-31

239

Multi-ethnic studies in complex traits.  

PubMed

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

Fu, Jingyuan; Festen, Eleonora A M; Wijmenga, Cisca

2011-10-15

240

Personality trait structure as a human universal  

Microsoft Academic Search

Patterns of covariation among personality traits in English-speaking populations can be summarized by the five-factor model (FFM). To assess the cross-cultural generalizability of the FFM, data from studies using 6 translations of the Revised NEO Personality Inventory (P. T. Costa & R. R. McCrae, 1992) were compared with the American factor structure. German, Portuguese, He-brew, Chinese, Korean, and Japanese samples

Robert R. McCrae

1997-01-01

241

A Genetic Epidemiological Study of Behavioral Traits  

Microsoft Academic Search

Human behavioural genetics aims to unravel the genetic and environmental contributions to\\u000avariations in human behaviour. Behaviour is a complex trait, involving multiple genes that are\\u000aaffected by a variety of other factors. Genetic epidemiological research of behaviour goes back\\u000ato Sir Francis Galton (1822-1911), who systematically studied heredity of human behaviour and\\u000amind, introducing major statistical concepts such as

N. Amin

2011-01-01

242

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

Microsoft Academic Search

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

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

1994-01-01

243

The convergent structure of DSM-5 personality trait facets and five-factor model trait domains.  

PubMed

The DSM-5 Personality and Personality Disorder Work Group have proposed diagnosing personality disorder based in part on 25 pathological traits. Initial research suggests that five factors explain the covariance among these traits and that these factors reflect the domains of the well-validated Five-Factor Model (FFM) of normative personality. This finding is important because it signifies the potential to apply normative trait research to personality disorder classification in the DSM-5. In this study, trait scale scores on the Personality Inventory for DSM-5 (PID-5) and domain scores from the FFM Rating Form (FFMRF) were subjected to a conjoint exploratory factor analysis (EFA) to test the higher-order convergence of the DSM-5 pathological trait model and the FFM in a nonclinical sample (N = 808). Results indicate that the five higher-order factors of the conjoint EFA reflect the domains of the FFM. The authors briefly discuss implications of this correspondence between the normative FFM and the pathological PID-5. PMID:22946103

Thomas, Katherine M; Yalch, Matthew M; Krueger, Robert F; Wright, Aidan G C; Markon, Kristian E; Hopwood, Christopher J

2013-06-01

244

Neutrinoless double beta decay and neutrino masses  

SciTech Connect

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.

Duerr, Michael [Max-Planck-Institut fuer Kernphysik, Saupfercheckweg 1, 69117 Heidelberg (Germany)

2012-07-27

245

Plasticity Regulators Modulate Specific Root Traits in Discrete Nitrogen Environments  

PubMed Central

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

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

246

Association mapping for morphological and physiological traits in Populus simonii  

PubMed Central

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

2014-01-01

247

QCD. beta. function with dynamical Wilson fermions  

SciTech Connect

We present data for the QCD {beta} function with two flavors of light Wilson fermions. We use the hybrid Monte Carlo algorithm and the method of matching of ratios of products of Wilson loops. At {beta}=6/{ital g}{sup 2}=6.0 perturbative scaling has not yet set in, whereas at {beta}=6.8 it clearly has. Since the matching is done for the integral of the {beta} function this scaling is expected above {beta}=6.0.

Bitar, K.; Kennedy, A.D. (Supercomputer Computations Research Institute, Florida State University, Tallahassee, Florida 32306-4052 (USA)); Rossi, P. (Department of Physics, University of California at San Diego, La Jolla, California 92093 (USA))

1989-12-18

248

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

PubMed Central

The attainment of a specific mature body size is one of the most fundamental differences among species of mammals. Moreover, body size seems to be the central factor underlying differences in traits such as growth rate, energy metabolism and body composition. An important proportion of this variability is of genetic origin. The goal of the genetic analysis of animal growth is to understand its "genetic architecture", that is the number and position of loci affecting the trait, the magnitude of their effects, allele frequencies and types of gene action. In this review, the different strategies developed to identify and characterize genes involved in the regulation of growth in the mouse are described, with emphasis on the methods developed to map loci contributing to the regulation of quantitative traits (QTLs). PMID:11333830

Corva, Pablo M; Medrano, Juan F

2001-01-01

249

Multiple-trait quantitative trait locus mapping with incomplete phenotypic data  

PubMed Central

Background Conventional multiple-trait quantitative trait locus (QTL) mapping methods must discard cases (individuals) with incomplete phenotypic data, thereby sacrificing other phenotypic and genotypic information contained in the discarded cases. Under standard assumptions about the missing-data mechanism, it is possible to exploit these cases. Results We present an expectation-maximization (EM) algorithm, derived for recombinant inbred and F2 genetic models but extensible to any mating design, that supports conventional hypothesis tests for QTL main effect, pleiotropy, and QTL-by-environment interaction in multiple-trait analyses with missing phenotypic data. We evaluate its performance by simulations and illustrate with a real-data example. Conclusion The EM method affords improved QTL detection power and precision of QTL location and effect estimation in comparison with case deletion or imputation methods. It may be incorporated into any least-squares or likelihood-maximization QTL-mapping approach. PMID:19061502

Guo, Zhigang; Nelson, James C

2008-01-01

250

Root traits contributing to plant productivity under drought  

PubMed Central

Geneticists and breeders are positioned to breed plants with root traits that improve productivity under drought. However, a better understanding of root functional traits and how traits are related to whole plant strategies to increase crop productivity under different drought conditions is needed. Root traits associated with maintaining plant productivity under drought include small fine root diameters, long specific root length, and considerable root length density, especially at depths in soil with available water. In environments with late season water deficits, small xylem diameters in targeted seminal roots save soil water deep in the soil profile for use during crop maturation and result in improved yields. Capacity for deep root growth and large xylem diameters in deep roots may also improve root acquisition of water when ample water at depth is available. Xylem pit anatomy that makes xylem less “leaky” and prone to cavitation warrants further exploration holding promise that such traits may improve plant productivity in water-limited environments without negatively impacting yield under adequate water conditions. Rapid resumption of root growth following soil rewetting may improve plant productivity under episodic drought. Genetic control of many of these traits through breeding appears feasible. Several recent reviews have covered methods for screening root traits but an appreciation for the complexity of root systems (e.g., functional differences between fine and coarse roots) needs to be paired with these methods to successfully identify relevant traits for crop improvement. Screening of root traits at early stages in plant development can proxy traits at mature stages but verification is needed on a case by case basis that traits are linked to increased crop productivity under drought. Examples in lesquerella (Physaria) and rice (Oryza) show approaches to phenotyping of root traits and current understanding of root trait genetics for breeding. PMID:24204374

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

2013-01-01

251

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

PubMed

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

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

2011-06-15

252

Population Structure of Morphological Traits in Clarkia Dudleyana I. Comparison of F(st) between Allozymes and Morphological Traits  

PubMed Central

Studies of genetic variation at allozyme loci, assumed to be selectively neutral, have provided valuable insights into the genetic structure of numerous populations. The degree to which population structure of allozyme variation reflects that of quantitative traits, however, is not well resolved. Here, we compare estimates of population differentiation (F(ST)) of 11 populations for allozymes with those for nine discrete and nine continuous morphological traits. Overall, the allozymes have the lowest F(ST) estimates, indicating relatively little population differentiation. Excepting two traits, petal width and long internode length, the continuous morphological traits have estimates similar to those from allozymes. The discrete morphological traits tend to have the highest estimates. On a single trait basis, estimates of F(ST) for four discrete and two continuous traits are higher than those for allozymes. A more detailed (narrow-sense quantitative) genetic study of two populations suggests that these estimates of F(ST) may underestimate the true value because of dominance. Clustering analyses show that the pattern of differentiation for the discrete morphological traits strongly reflects the geographical distribution of the populations, whereas the patterns for the continuous traits and allozymes do not. These results suggest that selection has been occurring on the discrete morphological traits, selecting toward a common optimum within each geographic group, and optima differing among geographic groups. PMID:7498750

Podolsky, R. H.; Holtsford, T. P.

1995-01-01

253

Modulation of transforming growth factor-beta secretion from malignant glioma cells by interleukin-1 beta.  

PubMed

Malignant glioma cells secrete transforming growth factor-beta (TGF-beta) which has potent immunosuppressive properties. We investigated the effect of interleukin-1 beta (IL-1 beta) on TGF-beta secretion from malignant glioma cells in vitro. T98G glioblastoma cells were treated with various doses of IL-1 beta and the TGF-beta activity in the supernatant was determined using a specific bioassay. Six other human malignant glioma cell lines were also treated with 1000 U/ml of IL-1 beta, and the TGF-beta activity in the supernatants was determined. The effect of IL-1 beta on the growth of tumor cells was also assessed by a bioassay using crystal violet which reflects the actual cell number in the plate wells. IL-1 beta treatment resulted in inhibition of TGF-beta secretion in two malignant glioma cell lines. TGF-beta secretion from T98G cells was suppressed by IL-1 beta in a dose-related manner. However, IL-1 beta treatment resulted in an obvious increase (> 20%) of TGF-beta secretion in two tumor lines, and a slight increase (< 20%) in three tumor lines. IL-1 beta did not affect the growth of four malignant glioma cell lines, and only slightly affected the growth of the other three cell lines. IL-1 beta modulates TGF-beta secretion from malignant glioma cells, but not in a consistent way. PMID:8869149

Naganuma, H; Sasaki, A; Satoh, E; Nagasaka, M; Nakano, S; Isoe, S; Nukui, H

1996-03-01

254

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

SciTech Connect

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.

Ngo, K.Y.; Liu, D.; Lee, J. [Univ. of California, San Diego (United States)] [and others

1994-09-01

255

Personality traits and personal values: a meta-analysis.  

PubMed

Personality traits and personal values are important psychological characteristics, serving as important predictors of many outcomes. Yet, they are frequently studied separately, leaving the field with a limited understanding of their relationships. We review existing perspectives regarding the nature of the relationships between traits and values and provide a conceptual underpinning for understanding the strength of these relationships. Using 60 studies, we present a meta-analysis of the relationships between the Five-Factor Model (FFM) of personality traits and the Schwartz values, and demonstrate consistent and theoretically meaningful relationships. However, these relationships were not generally large, demonstrating that traits and values are distinct constructs. We find support for our premise that more cognitively based traits are more strongly related to values and more emotionally based traits are less strongly related to values. Findings also suggest that controlling for personal scale-use tendencies in values is advisable. PMID:24963077

Parks-Leduc, Laura; Feldman, Gilad; Bardi, Anat

2015-02-01

256

Effects of bacteriophage traits on plaque formation  

PubMed Central

Background The appearance of plaques on a bacterial lawn is one of the enduring imageries in modern day biology. The seeming simplicity of a plaque has invited many hypotheses and models in trying to describe and explain the details of its formation. However, until now, there has been no systematic experimental exploration on how different bacteriophage (phage) traits may influence the formation of a plaque. In this study, we constructed a series of isogenic ? phages that differ in their adsorption rate, lysis timing, or morphology so that we can determine the effects if these changes on three plaque properties: size, progeny productivity, and phage concentration within plaques. Results We found that the adsorption rate has a diminishing, but negative impact on all three plaque measurements. Interestingly, there exists a concave relationship between the lysis time and plaque size, resulting in an apparent optimal lysis time that maximizes the plaque size. Although suggestive in appearance, we did not detect a significant effect of lysis time on plaque productivity. Nonetheless, the combined effects of plaque size and productivity resulted in an apparent convex relationship between the lysis time and phage concentration within plaques. Lastly, we found that virion morphology also affected plaque size. We compared our results to the available models on plaque size and productivity. For the models in their current forms, a few of them can capture the qualitative aspects of our results, but not consistently in both plaque properties. Conclusions By using a collection of isogenic phage strains, we were able to investigate the effects of individual phage traits on plaque size, plaque productivity, and average phage concentration in a plaque while holding all other traits constant. The controlled nature of our study allowed us to test several model predictions on plaque size and plaque productivity. It seems that a more realistic theoretical approach to plaque formation is needed in order to capture the complex interaction between phage and its bacterium host in a spatially restricted environment. PMID:21827665

2011-01-01

257

State and Trait Emotions in Delinquent Adolescents  

Microsoft Academic Search

Objective  To examine the structure of emotions and affective dysregulation in juvenile delinquents.\\u000a \\u000a \\u000a \\u000a Method  Fifty-six juvenile delinquents from a local juvenile hall and 169 subjects from a local high school were recruited for this\\u000a study. All participants completed psychometric testing for trait emotions followed by measurements of state emotions under\\u000a two conditions (free association and stress condition). Finally, delinquent participants completed a

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

2007-01-01

258

Epistasis dominates the genetic architecture of Drosophila quantitative traits  

PubMed Central

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

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

2012-01-01

259

Methods for linkage analysis of quantitative trait loci in humans.  

PubMed

This paper reviews linkage analysis methods for detecting loci associated with quantitative traits in humans. All such methods are based on the underlying principle that family members who have similar trait values should have higher than expected levels of sharing of genetic material (identity by descent) near the genes that influence those traits. A number of different statistical methods for testing that association between shared trait values and shared identity by descent have been developed over the past 30 or more years. These different types of tests are reviewed here, with emphasis on their theory and derivations. Robustness and power are also discussed. PMID:11855951

Feingold, E

2001-11-01

260

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

PubMed

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

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

2014-06-01

261

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...

262

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...

263

Quantitative trait loci associated with seed and seedling traits in Lactuca.  

PubMed

Seed and seedling traits related to germination and stand establishment are important in the production of cultivated lettuce (Lactuca sativa L.). Six seed and seedling traits segregating in a L. sativa cv. Salinas x L. serriola recombinant inbred line population consisting of 103 F8 families revealed a total of 17 significant quantitative trait loci (QTL) resulting from three seed production environments. Significant QTL were identified for germination in darkness, germination at 25 and 35 degrees C, median maximum temperature of germination, hypocotyl length at 72 h post-imbibition, and plant (seedling) quality. Some QTL for germination and early seedling growth characteristics were co-located, suggestive of pleiotropic loci regulating these traits. A single QTL (Htg6.1) described 25 and 23% of the total phenotypic variation for high temperature germination in California- and Netherlands-grown populations, respectively, and was significant between 33 and 37 degrees C. Additionally, Htg6.1 showed significant epistatic interactions with other Htg QTL and a consistent effect across all the three seed production environments. L. serriola alleles increased germination at these QTL. The estimate of narrow-sense heritability (h2) of Htg6.1 was 0.84, indicating potential for L. serriola as a source of germination thermotolerance for lettuce introgression programs. PMID:16177902

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

2005-11-01

264

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...

265

Introduction to Double Beta Decay  

SciTech Connect

While the neutrino oscillation experiments have measured non-zero square mass differences between neutrino flavors, the double beta decay is the most sensitive process to the absolute mass of the neutrinos and the only that can distinguish whether neutrino is a Dirac or a Majorana particle. These are a few but not the only reasons that many efforts, both theoretically and experimentally, are dedicated to the study of this process. In this lecture I'll give a short introduction to the double beta decay process. Different decay modes and mechanisms, a short history, decay rates and extraction of the neutrino mass parameter are presented.

Stoica, Sabin [Horia Hulubei National Institute for Physics and Nuclear Engineering, P.O. Box MG-6, 077125 Magurele (Romania); Horia Hulubei Foundation, 407, Atomistilor street, 077125 Magurele (Romania)

2010-11-24

266

Optimized breeding strategies for multiple trait integration: II. Process efficiency in event pyramiding and trait fixation.  

PubMed

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 ?8 cM of residual non-recurrent parent (NRP) germplasm with ~1 cM of NRP germplasm in the 20 cM 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

Peng, Ting; Sun, Xiaochun; Mumm, Rita H

2014-01-01

267

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

Technology Transfer Automated Retrieval System (TEKTRAN)

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

268

Identification of quantitative trait loci for agronomically important traits and their association with genic-microsatellite markers in sorghum  

Microsoft Academic Search

The identification of quantitative trait loci (QTLs) affecting agronomically important traits enable to understand their underlying\\u000a genetic mechanisms and genetic basis of their complex interactions. The aim of the present study was to detect QTLs for 12\\u000a agronomic traits related to staygreen, plant early development, grain yield and its components, and some growth characters\\u000a by analyzing replicated phenotypic datasets from

G. Srinivas; K. Satish; R. Madhusudhana; R. Nagaraja Reddy; S. Murali Mohan; N. Seetharama

2009-01-01

269

Relationship of various incoming cattle traits with feedlot performance and carcass traits.  

PubMed

Steers (n = 15,631) and heifers (n = 5,897) fed at 18 feedlots (total confinement, partial confinement, or open lots) in southwest Iowa between 2002 and 2006 as part of the Tri-County Steer Carcass Futurity sponsored by Iowa State University were used to correlate various phenotypic traits with feedlot performance and carcass traits. Dependent variables [ADG, respiratory morbidity, HCW, fat thickness, calculated yield grade, marbling score, presence or absence of lung damage, loin muscle area (LMA), and LMA x 100/HCW] were evaluated on the basis of various phenotypic traits [initial BW, disposition score (1 = calm, 6 = extremely excitable), muscle score, frame score, BCS, number of treatments for respiratory disease, presence of lung lesions, breed makeup, and percentage Angus genetics]. Subjectively evaluated phenotypic traits were evaluated by Iowa State University or USDA personnel. Cattle with greater disposition score (more excitable) had decreased initial BW, final BW, ADG, HCW, yield grade, quality grade, marbling score, and mortality (P < 0.01). Respiratory morbidity was negatively correlated with initial BW, ADG, yield grade, HCW, and marbling score (P < 0.01). As initial BW increased, final BW and HCW increased and respiratory morbidity decreased (P < 0.01). Cattle with greater BCS on arrival had greater initial BW but were lighter at slaughter (P < 0.01). Increased number of treatments for respiratory disease was associated with decreased ADG, greater mortality rate, and greater incidence of lung lesions (P < 0.01). Body weight gain was similar between English- and Continental-breed cattle (P > 0.05), although final BW and HCW were greater and yield grade and yield grade-adjusted marbling score were less for Continental-breed cattle (P < 0.01). Cattle with a poorer muscling score had reduced HCW and LMA and greater yield grade, marbling score, and quality grade (P < 0.01). Animal disposition, health, breed type, and frame score have dramatic effects on live feedlot performance and carcass traits. PMID:19465501

Reinhardt, C D; Busby, W D; Corah, L R

2009-09-01

270

Relationships between phyllosphere bacterial communities and plant functional traits in a neotropical forest  

PubMed Central

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

Kembel, Steven W.; O’Connor, Timothy K.; Arnold, Holly K.; Hubbell, Stephen P.; Wright, S. Joseph; Green, Jessica L.

2014-01-01

271

Quantitative trait loci for murine growth  

SciTech Connect

Body size is an archetypal quantitative trait with variation due to the segregation of many gene loci, each of relatively minor effect, and the environment. We examine the effects of quantitative trait loci (QTLs) on age-specific body weights and growth in the F{sub 2} intercross of the LG/J and SM/J strains of inbred mice. Weekly weights (1-10 wk) and 75 microsatellite genotypes were obtained for 535 mice. Interval mapping was used to locate and measure the genotypic effects of QTLs on body weight and growth. QTL effects were detected on 16 of the 19 autosomes with several chromosomes carrying more than one QTL. The number of QTLs for age-specific weights varied from seven at 1 week to 17 at 10 wk. The QTLs were each of relatively minor, subequal effect. QTLs affecting early and late growth were generally distinct, mapping to different chromosomal locations indicating separate genetic and physiological systems for early and later murine growth. 50 refs., 2 figs., 5 tabs.

Cheverud, J.M.; Swinderen, B. van; Cothran, K.; Perel, C. [Washington Univ. School of Medicine, St Louis, MO (United States)] [and others

1996-04-01

272

Beta decay of Ga-62  

E-print Network

measured with a purified source. We find that (0.120+/-0.021)% of the beta decays are followed by gamma cascades that pass through the Zn-62 2(+) first excited state at 0.954 MeV. The branching ratio to the first-excited 0(+) state in Zn-62 at 2.33 Me...

Hyman, BC; Iacob, VE; Azhari, A.; Gagliardi, Carl A.; Hardy, John C.; Mayes, VE; Neilson, RG; Sanchez-Vega, M.; Tang, X.; Trache, L.; Tribble, Robert E.

2003-01-01

273

An improved scintillation beta spectrometer  

E-print Network

AN IYiiROVED SCINTILLATION BETA SPECTROMETER A Thesis Jimmy Fred McClary Submitted to the Graduate College of Tezas AdM University in partial fulfillment of the requirements for the degree of MASTER OF SCIENCE January 1964. Ma]or Sub...

McClary, Jimmy Fred

1964-01-01

274

Higher-Order Item Response Models for Hierarchical Latent Traits  

ERIC Educational Resources Information Center

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

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

2013-01-01

275

Key canopy traits drive forest productivity Peter B. Reich*  

E-print Network

Key canopy traits drive forest productivity Peter B. Reich* Department of Forest Resources the mechanistic links between carbon fluxes and forest canopy attributes will advance under- standing of leaf have been made, but prior studies that related carbon fluxes to multiple canopy traits are scarce

Minnesota, University of

276

Emotional Intelligence Abilities and Traits in Different Career Paths  

ERIC Educational Resources Information Center

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

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

2009-01-01

277

Invasive Species Traits Jay, Josia, Rebecca, Alexandra, Vincent  

E-print Network

Introduction? McGregor et al, Diversity & Distributions 2012 #12;Pinus contorta #12;Species Statu s Fire engelmanii 0 2 28 3.5 45 13 Pinus lambertiana 0 2 40 4 216 49 Pinus banksiana 1 0 3 3.5 3 2 Pinus contorta 1Invasive Species Traits of Pinus. Jay, Josia, Rebecca, Alexandra, Vincent #12;. Traits thats

Schweik, Charles M.

278

Effects of Marathon Group Therapy on Trait and State Anxiety  

ERIC Educational Resources Information Center

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

Kilmann, Peter R.; Auerbach, Stephen M.

1974-01-01

279

The Hierarchical Structure of DSM-5 Pathological Personality Traits  

PubMed Central

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

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

2012-01-01

280

THE SMR TRAIT EXPLAINED BY HYGIENIC BEHAVIOR OF ADULT BEES  

Technology Transfer Automated Retrieval System (TEKTRAN)

Harris, J.W. & J.R. Harbo – The SMR trait explained by hygienic behavior of adult bees - We bred varroa resistant honey bees by selecting colonies with low percentages of reproductive mites (Harbo & Harris, 2001, J Econ Entomol 94: 1319-1323). The trait causing this effect was termed “suppression o...

281

Finding the molecular basis of quatitative traits: successes and pitfalls  

Microsoft Academic Search

Understanding the molecular basis of quantitative genetic variation is a principal goal for biomedicine. Although the complex genetic architecture of quantitative traits has so far largely frustrated attempts to identify genes in humans by standard linkage methodologies, quantitative trait loci (QTL) have been mapped in plants, insects and rodents. However, identifying the molecular bases of QTL remains a challenge. Here,

Jonathan Flint; Richard Mott

2001-01-01

282

How Do Trait Dimensions Map onto ADHD Symptom Domains?  

ERIC Educational Resources Information Center

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

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

2009-01-01

283

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

ERIC Educational Resources Information Center

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

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

2012-01-01

284

Heritability of reproductive fitness traits in a human population  

E-print Network

correlation in family sizes to genetic causes (16). The Hutterites are a young founder population of European (received for review July 6, 2009) The genetic basis of fitness traits has been studied widely in animals. In this study, we inves- tigated the genetic architecture of reproductive fitness traits in a fertile human

Abney, Mark

285

Environmental heterogeneity and spatiotemporal variability in plant defense traits  

E-print Network

452 Environmental heterogeneity and spatiotemporal variability in plant defense traits Alyssa S of plant defenses. If environmental heterogeneity is an important mechanism influ- encing plant defense in our system. This study highlights the context dependence of plant defense trait levels, which may

Cronin, James T.

286

Distinct evolutionary patterns of morphometric sperm traits in passerine birds.  

PubMed

The striking diversity of sperm shape across the animal kingdom is still poorly understood. Postcopulatory sexual selection is an important factor driving the evolution of sperm size and shape. Interestingly, morphometric sperm traits, such as the length of the head, midpiece and flagellum, exhibit a strong positive phenotypic correlation across species. Here we used recently developed comparative methods to investigate how such phenotypic correlations between morphometric sperm traits may evolve. We compare allometric relationships and evolutionary trajectories of three morphometric sperm traits (length of head, midpiece and flagellum) in passerine birds. We show that these traits exhibit strong phenotypic correlations but that allometry varies across families. In addition, the evolutionary trajectories of the midpiece and flagellum are similar while the trajectory for head length differs. We discuss our findings in the light of three scenarios accounting for correlated trait evolution: (i) genetic correlation; (ii) concerted response to selection acting simultaneously on different traits; and (iii) phenotypic correlation between traits driven by mechanistic constraints owing to selection on sperm performance. Our results suggest that concerted response to selection is the most likely explanation for the phenotypic correlation between morphometric sperm traits. PMID:22896646

Immler, Simone; Gonzalez-Voyer, Alejandro; Birkhead, Tim R

2012-10-22

287

Genetic Analysis of Autoimmune and Metabolic Traits in Chickens  

E-print Network

Genetic Analysis of Autoimmune and Metabolic Traits in Chickens Weronica Ek Faculty of Veterinary Medicine and Animal Science Department of Animal Breeding and Genetics Uppsala Doctoral thesis Swedish Cover: Ronald Nelson, SLU #12;Genetic Analysis of Autoimmune and Metabolic Traits in Chickens Abstract

288

TRAITS OF THE NEXT WAVE OF GENEVA APPLE ROOTSTOCKS  

Technology Transfer Automated Retrieval System (TEKTRAN)

The development of rootstocks that give us confidence, and are worthy inclusion in the decision making process prior to planting a new orchard is not an easy process. We must evaluate many traits in several locations for several years. Some of these traits are measured directly on the plants under...

289

Ordered subset analysis in genetic linkage mapping of complex traits  

Microsoft Academic Search

Etiologic heterogeneity is a fundamental feature of complex disease etiology; genetic linkage analysis methods to map genes for complex traits that acknowledge the presence of genetic heterogeneity are likely to have greater power to identify subtle changes in complex biologic systems. We investigate the use of trait-related covariates to examine evidence for linkage in the presence of heterogeneity. Ordered-subset analysis

Elizabeth R. Hauser; Richard M. Watanabe; William L. Duren; Meredyth P. Bass; Carl D. Langefeld; Michael Boehnke

2004-01-01

290

Linkage analysis of ordinal traits for pedigree data  

Microsoft Academic Search

Linkage analysis is used routinely to map genes for human diseases and conditions. However, the existing linkage-analysis methods require that the diseases or conditions either be dichotomized or measured by a quantitative trait, such as blood pressure for hypertension. In the latter case, normality is generally assumed for the trait. However, many diseases and conditions, such as cancer and mental

Rui Feng; James F. Leckman; Heping Zhang

2004-01-01

291

GENETIC MAPPING OF AGRONOMIC TRAITS IN SUGAR BEET  

Technology Transfer Automated Retrieval System (TEKTRAN)

The genetics of agronomic traits in sugar beet are not well defined but a comprehensive understanding of these traits is crucial for effective breeding of improved cultivars in the 21st century. Although current breeding approaches have been successful in selecting for improved agronomic performance...

292

Global Leaf Trait Relationships: Mass, Area, and the Leaf  

E-print Network

Global Leaf Trait Relationships: Mass, Area, and the Leaf Economics Spectrum Jeanne L. D. Osnas,1,2 * Jeremy W. Lichstein,2 Peter B. Reich,3,4 Stephen W. Pacala1 The leaf economics spectrum (LES) describes multivariate correlations that constrain leaf traits of plant species primarily to a single axis of variation

Minnesota, University of

293

Impulsivity-like traits and smoking behavior in college students  

Microsoft Academic Search

Recent research has deconstructed the concept of impulsivity by identifying five different traits that influence engagement in impulsive behaviors: positive urgency (tendency to act rashly in response to a positive mood), negative urgency (tendency to act rashly in response to a negative mood), sensation seeking, lack of planning, and lack of perseverance. The traits are only moderately related to each

Nichea S. Spillane; Gregory T. Smith; Christopher W. Kahler

2010-01-01

294

Distinct evolutionary patterns of morphometric sperm traits in passerine birds  

PubMed Central

The striking diversity of sperm shape across the animal kingdom is still poorly understood. Postcopulatory sexual selection is an important factor driving the evolution of sperm size and shape. Interestingly, morphometric sperm traits, such as the length of the head, midpiece and flagellum, exhibit a strong positive phenotypic correlation across species. Here we used recently developed comparative methods to investigate how such phenotypic correlations between morphometric sperm traits may evolve. We compare allometric relationships and evolutionary trajectories of three morphometric sperm traits (length of head, midpiece and flagellum) in passerine birds. We show that these traits exhibit strong phenotypic correlations but that allometry varies across families. In addition, the evolutionary trajectories of the midpiece and flagellum are similar while the trajectory for head length differs. We discuss our findings in the light of three scenarios accounting for correlated trait evolution: (i) genetic correlation; (ii) concerted response to selection acting simultaneously on different traits; and (iii) phenotypic correlation between traits driven by mechanistic constraints owing to selection on sperm performance. Our results suggest that concerted response to selection is the most likely explanation for the phenotypic correlation between morphometric sperm traits. PMID:22896646

Immler, Simone; Gonzalez-Voyer, Alejandro; Birkhead, Tim R.

2012-01-01

295

THE NUMBER OF GENES INVOLVED IN THE SMR TRAIT  

Technology Transfer Automated Retrieval System (TEKTRAN)

8. Harbo, J.R.(h) & Harris, J.W.(h)– THE NUMBER OF GENES INVOLVED IN THE SMR TRAIT – The SMR (suppressed mite reproduction) trait is explained by the hygienic removal of reproductive mites (Varroa destructor), see abstracts #9 and #10). This report describes what a breeder may expect when out-crossi...

296

Gender bias in children's perceptions of personality traits  

Microsoft Academic Search

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

Kimberly K. Powlishta

1995-01-01

297

TGF-{beta} Flips the Myc Switch  

NSDL National Science Digital Library

Although transforming growth factor-&beta; (TGF-&beta;) can affect cell cycle arrest, not much molecular detail is known about how TGF-&beta;-dependent arrest is mediated. Two recent papers shed some light on how this is accomplished. Orian and Eisenman discuss how Myc interacts with Miz-1 to block the expression of a cell cycle inhibitory protein, p15INK4b, and how TGF-&beta; is able to unblock Myc-dependent repression of Miz-1.

Amir Orian (University of Washington;Division of Basic Sciences at the Fred Hutchinson Cancer Research Center REV); Robert N. Eisenman (University of Washington;Division of Basic Sciences at the Fred Hutchinson Cancer Research Center REV)

2001-06-26

298

Beta Pictoris: an Early Solar System?  

Microsoft Academic Search

Beta Pictoris (beta Pic) is the best studied of the normal main-sequence stars surrounded by circumstellar dust disks. We review the status of beta Pic and its disk, and compare it with both the early and the present Solar System. The disk has very little gas and therefore is more evolved and older than the primordial solar nebulae, which persists

Pawel Artymowicz

1997-01-01

299

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

DOEpatents

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.

Morant, Marc Dominique

2014-04-29

300

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

DOEpatents

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.

Morant, Marc Dominique

2014-05-06

301

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

DOEpatents

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.

Morant, Marc Dominique

2014-05-06

302

DSM-5 Personality Traits and DSM-IV Personality Disorders  

PubMed Central

Two issues pertinent to the DSM-5 proposal for personality pathology, the recovery of DSM-IV personality disorders (PDs) by proposed DSM-5 traits and the validity of the proposed DSM-5 hybrid model which incorporates both personality pathology symptoms and maladaptive traits, were evaluated in a large undergraduate sample (N = 808). Proposed DSM-5 traits as assessed with the Personality Inventory for DSM-5 explained a substantial proportion of variance in DSM-IV PDs as assessed with the Personality Diagnostic Questionnaire-4+, and trait indicators of the six proposed DSM-5 PDs were mostly specific to those disorders with some exceptions. Regression analyses support the DSM-5 hybrid model in that pathological traits and an indicator of general personality pathology severity provided incremental information about PDs. Findings are discussed in the context of broader issues around the proposed DSM-5 model of personality disorders. PMID:22250660

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

2014-01-01

303

An Interpersonal Analysis of Pathological Personality Traits in DSM-5  

PubMed Central

The proposed changes to the personality disorder section of the DSM-5 places an increased focus on interpersonal impairment as one of the defining features of personality psychopathology. In addition, a proposed trait model has been offered to provide a means of capturing phenotypic variation on the expression of personality disorder. In this study, we subject the proposed DSM-5 traits to interpersonal analysis using the Inventory of Interpersonal Problems – Circumplex scales via the structural summary method for circumplex data. DSM-5 traits were consistently associated with generalized interpersonal dysfunction suggesting that they are maladaptive in nature, the majority of traits demonstrated discriminant validity with prototypical and differentiated interpersonal problem profiles, and conformed well to a priori hypothesized associations. These results are discussed in the context of the DSM-5 proposal and contemporary interpersonal theory, with a particular focus on potential areas for expansion of the DSM-5 trait model. PMID:22589411

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

2012-01-01

304

Plant functional traits predict green roof ecosystem services.  

PubMed

Plants make important contributions to the services provided by engineered ecosystems such as green roofs. Ecologists use plant species traits as generic predictors of geographical distribution, interactions with other species, and ecosystem functioning, but this approach has been little used to optimize engineered ecosystems. Four plant species traits (height, individual leaf area, specific leaf area, and leaf dry matter content) were evaluated as predictors of ecosystem properties and services in a modular green roof system planted with 21 species. Six indicators of ecosystem services, incorporating thermal, hydrological, water quality, and carbon sequestration functions, were predicted by the four plant traits directly or indirectly via their effects on aggregate ecosystem properties, including canopy density and albedo. Species average height and specific leaf area were the most useful traits, predicting several services via effects on canopy density or growth rate. This study demonstrates that easily measured plant traits can be used to select species to optimize green roof performance across multiple key services. PMID:25599106

Lundholm, Jeremy; Tran, Stephanie; Gebert, Luke

2015-02-17

305

Statistical classification methods for estimating ancestry using morphoscopic traits.  

PubMed

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

Hefner, Joseph T; Ousley, Stephen D

2014-07-01

306

A database of life-history traits of European amphibians  

PubMed Central

Abstract In the current context of climate change and landscape fragmentation, efficient conservation strategies require the explicit consideration of life history traits. This is particularly true for amphibians, which are highly threatened worldwide, composed by more than 7400 species, which is constitute one of the most species-rich vertebrate groups. The collection of information on life history traits is difficult due to the ecology of species and remoteness of their habitats. It is therefore not surprising that our knowledge is limited, and missing information on certain life history traits are common for in this species group. We compiled data on amphibian life history traits from literature in an extensive database with morphological and behavioral traits, habitat preferences and movement abilities for 86 European amphibian species (50 Anuran and 36 Urodela species). When it were available, we reported data for males, females, juveniles and tadpoles. Our database may serve as an important starting point for further analyses regarding amphibian conservation. PMID:25425939

Moulherat, Sylvain; Calvez, Olivier; Stevens, Virginie M; Clobert, Jean; Schmeller, Dirk S

2014-01-01

307

Natural variation of root traits: from development to nutrient uptake.  

PubMed

The root system has a crucial role for plant growth and productivity. Due to the challenges of heterogeneous soil environments, diverse environmental signals are integrated into root developmental decisions. While root growth and growth responses are genetically determined, there is substantial natural variation for these traits. Studying the genetic basis of the natural variation of root growth traits can not only shed light on their evolution and ecological relevance but also can be used to map the genes and their alleles responsible for the regulation of these traits. Analysis of root phenotypes has revealed growth strategies and root growth responses to a variety of environmental stimuli, as well as the extent of natural variation of a variety of root traits including ion content, cellular properties, and root system architectures. Linkage and association mapping approaches have uncovered causal genes underlying the variation of these traits. PMID:25104725

Ristova, Daniela; Busch, Wolfgang

2014-10-01

308

Interleukin-1{beta} (IL-1{beta}) Processing Pathway  

NSDL National Science Digital Library

The innate immune system senses molecular patterns from invading microorganisms. Once activated, it orchestrates the inflammatory response by secreting proinflammatory cytokines, such as interleukin-1 (IL-1)–type cytokines, in particular IL-1&beta;. IL-1 mediates the expression of a vast array of genes involved in secondary inflammation. IL-1–responsive genes coordinate all aspects of local inflammation and also attract and activate cells of the adaptive immune system at sites of infection. Moreover, the innate immune system can also sense a wide range of nonmicrobial molecular patterns that represent danger or damage signals. These signals activate the NALP3-inflammasome pathway, which plays a central role in acute and chronic sterile inflammation. Here, we describe the essential components of the NALP3-inflammasome that control processing and release of IL-1&beta;.

Axel Weber (Justus-Liebig-University Giessen;Rudolf-Buchheim-Institute of Pharmacology REV); Peter Wasiliew (Justus-Liebig-University Giessen;Rudolf-Buchheim-Institute of Pharmacology REV); Michael Kracht (Justus-Liebig-University Giessen;Rudolf-Buchheim-Institute of Pharmacology REV)

2010-01-19

309

Genetic correlations between growth and reproductive traits in Zandi sheep.  

PubMed

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

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

2014-06-01

310

Genetic selection for temperament traits in dairy and beef cattle  

PubMed Central

Animal temperament can be defined as a response to environmental or social stimuli. There are a number of temperament traits in cattle that contribute to their welfare, including their response to handling or milking, response to challenge such as human approach or intervention at calving, and response to conspecifics. In a number of these areas, the genetic basis of the trait has been studied. Heritabilities have been estimated and in some cases quantitative trait loci (QTL) have been identified. The variation is sometimes considerable and moderate heritabilities have been found for the major handling temperament traits, making them amenable to selection. Studies have also investigated the correlations between temperament and other traits, such as productivity and meat quality. Despite this, there are relatively few examples of temperament traits being used in selection programmes. Most often, animals are screened for aggression or excessive fear during handling or milking, with extreme animals being culled, or EBVs for temperament are estimated, but these traits are not commonly included routinely in selection indices, despite there being economic, welfare and human safety drivers for their. There may be a number of constraints and barriers. For some traits and breeds, there may be difficulties in collecting behavioral data on sufficiently large populations of animals to estimate genetic parameters. Most selection indices require estimates of economic values, and it is often difficult to assign an economic value to a temperament trait. The effects of selection primarily for productivity traits on temperament and welfare are discussed. Future opportunities include automated data collection methods and the wider use of genomic information in selection. PMID:25374582

Haskell, Marie J.; Simm, Geoff; Turner, Simon P.

2014-01-01

311

Engineering multicellular traits in synthetic microbial populations.  

PubMed

Without cell-to-cell communication, the organization and regulation of specialized cell types that underpin the development and physiology of multicellular organisms would be impossible. In nature, unicellular microbes have also been shown to display multicellular-like traits, such as intercellular communication, division of labor, and cooperative coordination of cellular activities. Likewise, the incorporation of artificial cell-to-cell communication into genetic circuit designs is enabling synthetic biologists to move from programming single cells towards the engineering of population-level behaviors and functions, such as diversification, spatial organization, synchronization, and coordinated information processing. The disciplined engineering goal of routinely building complex genetic circuits from well-characterized modules still poses challenges, owing to reusability and input-output matching problems resulting from information transfer being mediated through diffusible molecules. Optogenetic interfaces between circuits are considered as a possible solution. PMID:22591687

Chuang, John S

2012-08-01

312

Influence analysis in quantitative trait loci detection  

PubMed Central

This paper presents systematic methods for the detection of influential individuals that affect the log odds (LOD) score curve. We derive general formulas of influence functions for profile likelihoods and introduce them into two standard quantitative trait locus detection methods—the interval mapping method and single marker analysis. Besides influence analysis on specific LOD scores, we also develop influence analysis methods on the shape of the LOD score curves. A simulation-based method is proposed to assess the significance of the influence of the individuals. These methods are shown useful in the influence analysis of a real dataset of an experimental population from an F2 mouse cross. By receiver operating characteristic analysis, we confirm that the proposed methods show better performance than existing diagnostics. PMID:24740424

Dou, Xiaoling; Kuriki, Satoshi; Maeno, Akiteru; Takada, Toyoyuki; Shiroishi, Toshihiko

2014-01-01

313

Genetic Control of Meat Quality Traits  

NASA Astrophysics Data System (ADS)

Meat was originally produced from non-specialized animals that were used for a variety of purposes, in addition to being a source of food. However, selective breeding has resulted in “improved” breeds of cattle that are now used to produce either milk or beef, and specialized chicken lines that produce eggs or meat. These improved breeds are very productive under appropriate management systems. The selection methods used to create these specialized breeds were based on easily measured phenotypic variations, such as growth rate or physical size. Improvement in the desired trait was achieved by breeding directly from animals displaying the desired phenotype. However, more recently sophisticated genetic models have been developed using statistical approaches that consider phenotypic information collected, not only from individual animals but also from their parents, sibs, and progeny.

Williams, John L.

314

Molecular basis of two traits studied by Mendel Genes encoding two traits studied by Mendel have been cloned.  

E-print Network

Molecular basis of two traits studied by Mendel Genes encoding two traits studied by Mendel have that encodes the starch branching enzyme isoform I (SBEI) and showed that the gene is interrupted of this the amylose is not branched and starch yield is reduced; sucrose content goes up, and therefore, sweet peas

Bhattacharyya, Madan Kumar

315

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

Microsoft Academic Search

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

Urs Schnyder; Andreas Hofer; Florence Labroue; Niklaus Künzi

2002-01-01

316

Structural Characterization of Zeolite Beta  

NASA Astrophysics Data System (ADS)

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.

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

1988-12-01

317

Genetic parameters for productive life traits and reproductive efficiency traits at 6 years in Nellore cattle  

Microsoft Academic Search

The objective of the present study was to estimate (co)variance components for length of productive life (LPL) and some alternative reproductive traits of 6-year-old Nellore cattle. The data set contained 57,410 records for age at first calving from Nel- lore females and was edited to remove animal records with uncertain paternity and cows with just one piece of calving information.

J. C. C. Balieiro; J. P. Eler; J. B. S. Ferraz; E. C. Mattos; C. C. Balieiro

2008-01-01

318

Detection of quantitative trait loci for meat quality traits in cattle.  

PubMed

A whole-genome scan was carried out to detect quantitative trait loci (QTL) affecting sensory, organoleptic, physical and chemical properties of meat. The study used phenotypic data from 235 second-generation cross-bred bull calves of a Charolais x Holstein experimental population. Loin muscle samples were evaluated for yield force, intramuscular fat and nitrogen contents, myofibrillar fragmentation index, haem pigment concentration, moisture content and pH at 24 h postmortem. A sensory assessment was performed on grilled loin and roasted silverside joints by trained panellists. A linear regression analysis based on 165 markers revealed 35 QTL at the 5% chromosome-wide significance level (20 for sensory traits and 15 for physical and chemical traits), five of which were highly significant (F-value: > or =9). The most significant QTL was located on chromosome 6 (with the best likely position at 39 cM) and affected haem pigment concentration. The Holstein allele for this QTL was associated with an increase of 0.53 SD in the haem scores. A QTL for pH(24h) was identified on chromosome 14 (at 40 cM) and a QTL for moisture content was identified on chromosome 22 (at 21 cM). Two highly significant QTL were identified for sensory panel-assessed traits: beef odour intensity (grilled sample) on chromosome 10 (at 119 cM), and juiciness (roast sample) on chromosome 16 (at 70 cM). The proportion of phenotypic variance explained by the significant QTL ranged from 3.6% (for nitrogen content on chromosome 10) to 9.5% (for juiciness, roast sample on chromosome 16). PMID:18254735

Gutiérrez-Gil, B; Wiener, P; Nute, G R; Burton, D; Gill, J L; Wood, J D; Williams, J L

2008-02-01

319

Of intent and action : implementing personality traits for storytelling through concept patterns  

E-print Network

Personality traits such as "kind," "aggressive," and "brave" are integral to storytelling because they impart succinct descriptors of character personalities. Authors apply traits to characters, readers infer characters' ...

Song, Susan S. (Susan Shuchen)

2012-01-01

320

Secretion of transforming growth factor-beta 1 and -beta 2 by malignant glioma cells.  

PubMed

The secretion of transforming growth factor-beta (TGF-beta), a growth inhibitory factor with immunosuppressive properties, was investigated in one glioblastoma cell line and seven surgically resected malignant glioma cells. Cultured cells from surgically resected tumors were examined immunohistochemically for glial fibrillary acidic protein (GFAP) and S-100 protein. The levels of TGF-beta 1 and TGF-beta 2 in culture supernatants from malignant glioma cells were determined by a specific bioassay using anti-TGF-beta 1 and anti-TGF-beta 2 antibodies. Two glioblastoma cell lines were cultured in the presence of TGF-beta 1 or TGF-beta 2 to assess the effect of TGF-beta on the growth of glioblastoma cells. Cultured cells from surgically resected tumors were positive for both GFAP and S-100 protein. Both active and latent forms of TGF-beta 1 and TGF-beta 2 were detected in the culture supernatants from malignant gliomas, except in one patient with anaplastic astrocytoma which secreted only latent forms of TGF-beta 1 and TGF-beta 2. There was no statistical difference in the levels of TGF-beta 1 and TGF-beta 2 in glioblastomas and anaplastic astrocytomas. Neither TGF-beta 1 nor TGF-beta 2 affected the growth of glioblastoma cells. These findings suggest that most malignant glioma cells secrete both TGF-beta 1 and TGF-beta 2, can convert TGF-beta from a latent to active form, and may suppress cytokine secretion by activated lymphocytes in vivo as well as in vitro. PMID:7477684

Sasaki, A; Naganuma, H; Satoh, E; Nagasaka, M; Isoe, S; Nakano, S; Nukui, H

1995-07-01

321

Proportion of some somatic, physiological, and psychomotor traits to extreme values of selected morpho-physiological traits in humans.  

PubMed

The material analyzed in this paper consists of inhabitants of the Suwa?lki region (rural area), Be?chatów Industrial Center (under industrial development), Dabrowa Górnicza Region (heavy industrial region) and Lód? (textile industry city). A total of 1012 individuals of both sexes were examined. They were aged from 4.5 to 24.4 years, and characterized by extreme values (small or large) of five basic traits (body weight, vital capacity of lungs, heart rate after work, hematocrit index, and diastolic blood pressure). Individual morphological, physiological, and psychomotor traits were examined in relation to extreme values of these five basic traits. It has been found that some traits were compensatory with respect to the basic traits, but some others were adapted in different ways. PMID:1344726

Kozio?-Ko?odziejska, R

1992-01-01

322

Beta Beams for Neutrino Production  

NASA Astrophysics Data System (ADS)

This paper gives an overview of the work done so far to produce sufficient neutrino fluxes for neutrino oscillation physics using beta beams. The design study on a beta beam scenario, the EURISOL (European Isotope Separation On-Line Radioactive Ion Beam Facility) Design Study, a project funded by the European Commission (EC), is now ready to be published. The study is based on the acceleration of 6He and 18Ne ions to produce the (anti-)neutrino beam using the existing CERN infrastructure for acceleration of the ions. We will here briefly describe the work with emphasis on how potential showstoppers, in particular radiation safety and equipment damage, have been dealt with. New results for the production of 6He show very encouraging results. We are now confident that this ion is a good choice to produce antineutrinos. However, the ion production needed for the physics experiments could not, up to now, be reasonably satisfied for 18Ne. Therefore, studies of alternative beta emitters, 8Li and 8B, with properties interesting for physics reach, have been proposed. The production of these ions is studied within the EC funded EUROnu project, "A High Intensity Neutrino Oscillation Facility for Europe." This project will end in 2012. A small storage ring, in which the beam traverses a target, creating the 8Li and 8B isotopes that will be collected and accelerated, is studied in this proposal. We present the latest developments for the production of these ions, including a production ring lattice. Extensive Geant4 simulations have been done with the aim of developing a model of the production target that can be used for simulations of the necessary cooling system. In this paper we present the status of the work performed and an overview of ongoing and planned activities to make the beta beam project a solid proposal for neutrino production within the EUROnu project.

Wildner, Elena

2010-03-01

323

Beta Beams for Neutrino Production  

SciTech Connect

This paper gives an overview of the work done so far to produce sufficient neutrino fluxes for neutrino oscillation physics using beta beams. The design study on a beta beam scenario, the EURISOL (European Isotope Separation On-Line Radioactive Ion Beam Facility) Design Study, a project funded by the European Commission (EC), is now ready to be published. The study is based on the acceleration of {sup 6}He and {sup 18}Ne ions to produce the (anti-)neutrino beam using the existing CERN infrastructure for acceleration of the ions. We will here briefly describe the work with emphasis on how potential showstoppers, in particular radiation safety and equipment damage, have been dealt with. New results for the production of {sup 6}He show very encouraging results. We are now confident that this ion is a good choice to produce antineutrinos. However, the ion production needed for the physics experiments could not, up to now, be reasonably satisfied for {sup 18}Ne. Therefore, studies of alternative beta emitters, {sup 8}Li and {sup 8}B, with properties interesting for physics reach, have been proposed. The production of these ions is studied within the EC funded EUROnu project, ''A High Intensity Neutrino Oscillation Facility for Europe.'' This project will end in 2012. A small storage ring, in which the beam traverses a target, creating the {sup 8}Li and {sup 8}B isotopes that will be collected and accelerated, is studied in this proposal. We present the latest developments for the production of these ions, including a production ring lattice. Extensive Geant4 simulations have been done with the aim of developing a model of the production target that can be used for simulations of the necessary cooling system. In this paper we present the status of the work performed and an overview of ongoing and planned activities to make the beta beam project a solid proposal for neutrino production within the EUROnu project.

Wildner, Elena [CERN, Geneva (Switzerland)

2010-03-30

324

[The beta-adrenergic receptor].  

PubMed

The Authors review the constitution and mechanism of action of the beta adrenergic receptor. It is part of a large family which includes visual pigments, muscarinic, serotonergic, olfactive and substance K receptors. Catecholamines given an electron to the receptor. It goes then successively to the alpha submit of Gs protein ant to adenylyl cyclase. The process of activation consists in a successive transfer of one electron. PMID:1337834

Bicho, M P; Manso, C F

1992-12-01

325

Molecular basis for amyloid-[beta] polymorphism  

SciTech Connect

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.

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

2011-10-19

326

A Thesaurus for Soil Invertebrate Trait-Based Approaches  

PubMed Central

Soil invertebrates are known to be much involved in soil behaviour and therefore in the provision of ecosystem services. Functional trait-based approaches are methodologies which can be used to understand soil invertebrates’ responses to their environment. They (i) improve the predictions and (ii) are less dependent on space and time. The way traits have been used recently has led to misunderstandings in the integration and interpretation of data. Trait semantics are especially concerned. The aim of this paper is to propose a thesaurus for soil invertebrate trait-based approaches. T-SITA, an Internet platform, is the first initiative to deal with the semantics of traits and ecological preferences for soil invertebrates. It reflects the agreement of a scientific expert community to fix semantic properties (e.g. definition) of approximately 100 traits and ecological preferences. In addition, T-SITA has been successfully linked with a fully operational database of soil invertebrate traits. Such a link enhances data integration and improves the scientific integrity of data. PMID:25310431

Nahmani, Johanne; Auclerc, Apolline; Capowiez, Yvan; Caro, Gaël; Cluzeau, Daniel; Cortet, Jérôme; Decaëns, Thibaud; Dubs, Florence; Joimel, Sophie; Guernion, Muriel; Briard, Charlène; Grumiaux, Fabien; Laporte, Baptiste; Pasquet, Alain; Pelosi, Céline; Pernin, Céline; Ponge, Jean-François; Salmon, Sandrine; Santorufo, Lucia; Hedde, Mickaël

2014-01-01

327

Polytraits: A database on biological traits of marine polychaetes  

PubMed Central

Abstract The study of ecosystem functioning – the role which organisms play in an ecosystem – is becoming increasingly important in marine ecological research. The functional structure of a community can be represented by a set of functional traits assigned to behavioural, reproductive and morphological characteristics. The collection of these traits from the literature is however a laborious and time-consuming process, and gaps of knowledge and restricted availability of literature are a common problem. Trait data are not yet readily being shared by research communities, and even if they are, a lack of trait data repositories and standards for data formats leads to the publication of trait information in forms which cannot be processed by computers. This paper describes Polytraits (http://polytraits.lifewatchgreece.eu), a database on biological traits of marine polychaetes (bristle worms, Polychaeta: Annelida). At present, the database contains almost 20,000 records on morphological, behavioural and reproductive characteristics of more than 1,000 marine polychaete species, all referenced by literature sources. All data can be freely accessed through the project website in different ways and formats, both human-readable and machine-readable, and have been submitted to the Encyclopedia of Life for archival and integration with trait information from other sources. PMID:24855436

2014-01-01

328

Latitudinal trait variation and responses to drought in Arabidopsis lyrata.  

PubMed

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

Paccard, Antoine; Fruleux, Alexandre; Willi, Yvonne

2014-06-01

329

Investigation of the construct of trait emotional intelligence in children.  

PubMed

This paper discusses the construct of trait emotional intelligence (trait EI or trait emotional self-efficacy) with emphasis on measurement in children. The Trait Emotional Intelligence Questionnaire-Child Form (TEIQue-CF) is introduced and its development and theoretical background are briefly explained. It is shown in two independent studies that the TEIQue-CF has satisfactory levels of internal consistency (alpha = 0.76 and alpha = 0.73, respectively) and temporal stability [r = 0.79 and r ((corrected)) = 1.00]. Trait EI scores were generally unrelated to proxies of cognitive ability, as hypothesized in trait EI theory (Petrides et al. in Matthews et al. (eds) Emotional intelligence: knowns and unknowns -- series in affective science. Oxford University Press, Oxford, pp 151-166). They also differentiated between pupils with unauthorized absences or exclusions from school and controls. Trait EI correlated positively with teacher-rated positive behavior and negatively with negative behavior (emotional symptoms, conduct problems, peer problems, and hyperactivity). PMID:18563477

Mavroveli, Stella; Petrides, K V; Shove, Chloe; Whitehead, Amanda

2008-12-01

330

Predicting leaf traits of herbaceous species from their spectral characteristics  

PubMed Central

Trait predictions from leaf spectral properties are mainly applied to tree species, while herbaceous systems received little attention in this topic. Whether similar trait–spectrum relations can be derived for herbaceous plants that differ strongly in growing strategy and environmental constraints is therefore unknown. We used partial least squares regression to relate key traits to leaf spectra (reflectance, transmittance, and absorbance) for 35 herbaceous species, sampled from a wide range of environmental conditions. Specific Leaf Area and nutrient-related traits (N and P content) were poorly predicted from any spectrum, although N prediction improved when expressed on a per area basis (mg/m2 leaf surface) instead of mass basis (mg/g dry matter). Leaf dry matter content was moderately to good correlated with spectra. We explain our results by the range of environmental constraints encountered by herbaceous species; both N and P limitations as well as a range of light and water availabilities occurred. This weakened the relation between the measured response traits and the leaf constituents that are truly responsible for leaf spectral behavior. Indeed, N predictions improve considering solely upper or under canopy species. Therefore, trait predictions in herbaceous systems should focus on traits relating to dry matter content and the true, underlying drivers of spectral properties. PMID:24683454

Roelofsen, Hans D; van Bodegom, Peter M; Kooistra, Lammert; Witte, Jan-Philip M

2014-01-01

331

Predicting species' maximum dispersal distances from simple plant traits.  

PubMed

Many studies have shown plant species' dispersal distances to be strongly related to life-history traits, but how well different traits can predict dispersal distances is not yet known. We used cross-validation techniques and a global data set (576 plant species) to measure the predictive power of simple plant traits to estimate species' maximum dispersal distances. Including dispersal syndrome (wind, animal, ant, ballistic, and no special syndrome), growth form (tree, shrub, herb), seed mass, seed release height, and terminal velocity in different combinations as explanatory variables we constructed models to explain variation in measured maximum dispersal distances and evaluated their power to predict maximum dispersal distances. Predictions are more accurate, but also limited to a particular set of species, if data on more specific traits, such as terminal velocity, are available. The best model (R2 = 0.60) included dispersal syndrome, growth form, and terminal velocity as fixed effects. Reasonable predictions of maximum dispersal distance (R2 = 0.53) are also possible when using only the simplest and most commonly measured traits; dispersal syndrome and growth form together with species taxonomy data. We provide a function (dispeRsal) to be run in the software package R. This enables researchers to estimate maximum dispersal distances with confidence intervals for plant species using measured traits as predictors. Easily obtainable trait data, such as dispersal syndrome (inferred from seed morphology) and growth form, enable predictions to be made for a large number of species. PMID:24669743

Tamme, Riin; Götzenberger, Lars; Zobel, Martin; Bullock, James M; Hooftman, Danny A P; Kaasik, Ants; Pärtel, Meelis

2014-02-01

332

Genetic analysis of root morphological traits in wheat.  

PubMed

Traits related to root architecture are of great importance for yield performance of crop species, although they remain poorly understood. The present study is aimed at identifying the genomic regions involved in the control of root morphological traits in durum wheat (Triticum durum Desf.). A set of 123 recombinant inbred lines derived from the durum wheat cross of cvs. 'Creso' × 'Pedroso' were grown hydroponically to two growth stages, and were phenotypically evaluated for a number of root traits. In addition, meta-(M)QTL analysis was performed that considered the results of other root traits studies in wheat, to compare with the 'Creso' × 'Pedroso' cross and to increase the QTL detection power. Eight quantitative trait loci (QTL) for traits related to root morphology were identified on chromosomes 1A, 1B, 2A, 3A, 6A and 6B in the 'Creso' × 'Pedroso' segregating population. Twenty-two MQTL that comprised from two to six individual QTL that had widely varying confidence intervals were found on 14 chromosomes. The data from the present study provide a detailed analysis of the genetic basis of morphological root traits in wheat. This study of the 'Creso' × 'Pedroso' durum-wheat population has revealed some QTL that had not been previously identified. PMID:25416422

Petrarulo, Maria; Marone, Daniela; Ferragonio, Pina; Cattivelli, Luigi; Rubiales, Diego; De Vita, Pasquale; Mastrangelo, Anna Maria

2014-11-22

333

Genetic relationship among reproductive traits in Nellore cattle.  

PubMed

In order to achieve improvements in production efficiency in livestock, herds of high sexual precocity and good fertility are needed. These traits increase the availability of animals in herd, either for sale or selection, allowing both greater selective intensity and greater genetic progress. This study aimed at estimating genetic parameters for reproductive traits measured directly in females in order to verify whether they could be used as selection criteria for genetic improvement in Nellore cows, as well as estimating the genetic relationship among these traits and scrotal circumference (SC), the traditional selection criterion for sexual precocity in cattle. In addition to SC, stayability (STAY), number of calvings at 53 months (NC53) and heifers rebreeding (HR) were studied. The (co)variances and genetic parameters were estimated using Bayesian inference. STAY, NC53 and HR were analyzed assuming a threshold model, whereas SC was analyzed with a linear model. Heritability estimated for NC53 was 0.22, and this trait was strongly and positively correlated with STAY, meaning selection for NC53 would improve productive longevity of Nellore cows. Correlations estimated between HR and STAY (?0.97) and between HR and NC53 (?0.99) allow an improvement on HR rates if selection was applied to traits related to longevity. Genetic correlations among SC and female reproductive traits were positive but weak, suggesting the need to use reproductive traits directly measured in females in order to obtain greater improvements in sexual precocity and longevity. PMID:25483394

Guarini, A R; Neves, H H R; Schenkel, F S; Carvalheiro, R; Oliveira, J A; Queiroz, S A

2014-12-01

334

Brain structure links trait creativity to openness to experience.  

PubMed

Creativity is crucial to the progression of human civilization and has led to important scientific discoveries. Especially, individuals are more likely to have scientific discoveries if they possess certain personality traits of creativity (trait creativity), including imagination, curiosity, challenge and risk-taking. This study used voxel-based morphometry to identify the brain regions underlying individual differences in trait creativity, as measured by the Williams creativity aptitude test, in a large sample (n = 246). We found that creative individuals had higher gray matter volume in the right posterior middle temporal gyrus (pMTG), which might be related to semantic processing during novelty seeking (e.g. novel association, conceptual integration and metaphor understanding). More importantly, although basic personality factors such as openness to experience, extroversion, conscientiousness and agreeableness (as measured by the NEO Personality Inventory) all contributed to trait creativity, only openness to experience mediated the association between the right pMTG volume and trait creativity. Taken together, our results suggest that the basic personality trait of openness might play an important role in shaping an individual's trait creativity. PMID:24603022

Li, Wenfu; Li, Xueting; Huang, Lijie; Kong, Xiangzhen; Yang, Wenjing; Wei, Dongtao; Li, Jingguang; Cheng, Hongsheng; Zhang, Qinglin; Qiu, Jiang; Liu, Jia

2015-02-01

335

Predicting leaf traits of herbaceous species from their spectral characteristics.  

PubMed

Trait predictions from leaf spectral properties are mainly applied to tree species, while herbaceous systems received little attention in this topic. Whether similar trait-spectrum relations can be derived for herbaceous plants that differ strongly in growing strategy and environmental constraints is therefore unknown. We used partial least squares regression to relate key traits to leaf spectra (reflectance, transmittance, and absorbance) for 35 herbaceous species, sampled from a wide range of environmental conditions. Specific Leaf Area and nutrient-related traits (N and P content) were poorly predicted from any spectrum, although N prediction improved when expressed on a per area basis (mg/m(2) leaf surface) instead of mass basis (mg/g dry matter). Leaf dry matter content was moderately to good correlated with spectra. We explain our results by the range of environmental constraints encountered by herbaceous species; both N and P limitations as well as a range of light and water availabilities occurred. This weakened the relation between the measured response traits and the leaf constituents that are truly responsible for leaf spectral behavior. Indeed, N predictions improve considering solely upper or under canopy species. Therefore, trait predictions in herbaceous systems should focus on traits relating to dry matter content and the true, underlying drivers of spectral properties. PMID:24683454

Roelofsen, Hans D; van Bodegom, Peter M; Kooistra, Lammert; Witte, Jan-Philip M

2014-03-01

336

A database of lotic invertebrate traits for North America  

USGS Publications Warehouse

The assessment and study of stream communities may be enhanced if functional characteristics such as life-history, habitat preference, and reproductive strategy were more widely available for specific taxa. Species traits can be used to develop these functional indicators because many traits directly link functional roles of organisms with controlling environmental factors (for example, flow, substratum, temperature). In addition, some functional traits may not be constrained by taxonomy and are thus applicable at multiple spatial scales. Unfortunately, a comprehensive summary of traits for North American invertebrate taxa does not exist. Consequently, the U.S. Geological Survey's National Water-Quality Assessment Program in cooperation with Colorado State University compiled a database of traits for North American invertebrates. A total of 14,127 records for over 2,200 species, 1,165 genera, and 249 families have been entered into the database from 967 publications, texts and reports. Quality-assurance procedures indicated error rates of less than 3 percent in the data entry process. Species trait information was most complete for insect taxa. Traits describing resource acquisition and habitat preferences were most frequently reported, whereas those describing physiological tolerances and reproductive biology were the least frequently reported in the literature. The database is not exhaustive of the literature for North American invertebrates and is biased towards aquatic insects, but it represents a first attempt to compile traits in a web-accessible database. This report describes the database and discusses important decisions necessary for identifying ecologically relevant, environmentally sensitive, non-redundant, and statistically tractable traits for use in bioassessment programs.

Vieira, Nicole K.M.; Poff, N. LeRoy; Carlisle, Daren M.; Moulton, Stephen R., II; Koski, Marci L.; Kondratieff, Boris C.

2006-01-01

337

Functional traits and root morphology of alpine plants  

PubMed Central

Background and Aims Vegetation has long been recognized to protect the soil from erosion. Understanding species differences in root morphology and functional traits is an important step to assess which species and species mixtures may provide erosion control. Furthermore, extending classification of plant functional types towards root traits may be a useful procedure in understanding important root functions. Methods In this study, pioneer data on traits of alpine plant species, i.e. plant height and shoot biomass, root depth, horizontal root spreading, root length, diameter, tensile strength, plant age and root biomass, from a disturbed site in the Swiss Alps are presented. The applicability of three classifications of plant functional types (PFTs), i.e. life form, growth form and root type, was examined for above- and below-ground plant traits. Key Results Plant traits differed considerably among species even of the same life form, e.g. in the case of total root length by more than two orders of magnitude. Within the same root diameter, species differed significantly in tensile strength: some species (Geum reptans and Luzula spicata) had roots more than twice as strong as those of other species. Species of different life forms provided different root functions (e.g. root depth and horizontal root spreading) that may be important for soil physical processes. All classifications of PFTs were helpful to categorize plant traits; however, the PFTs according to root type explained total root length far better than the other PFTs. Conclusions The results of the study illustrate the remarkable differences between root traits of alpine plants, some of which cannot be assessed from simple morphological inspection, e.g. tensile strength. PFT classification based on root traits seems useful to categorize plant traits, even though some patterns are better explained at the individual species level. PMID:21795278

Pohl, Mandy; Stroude, Raphaël; Buttler, Alexandre; Rixen, Christian

2011-01-01

338

Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia.  

PubMed Central

In two Chinese patients with homozygous beta(0)-thalassemia, messenger RNAs from peripheral blood reticulocytes and the bone marrow failed to direct beta-chain synthesis in vivo and in vitro in a cell-free system. Molecular hybridization showed that the beta cDNA annealed to the RNAs at almost the same rate as the alpha and gamma cDNA. The beta cDNA-RNA hydrid formed efficiently and was thermally stable, whereas hybrids between gamma and beta sequences formed slowly and denatured at a significantly lower temperature. Thus, we conclude that the beta cDNA was annealing to beta-globin sequences in these two patients, and that nonfunctional beta-globin mRNA was present. Similar results were obtained in the reticulocyte RNA from an Italian patient with homozygous beta(0)-thalassemia. PMID:1061099

Kan, Y W; Holland, J P; Dozy, A M; Varmus, H E

1975-01-01

339

Power spectrum scale invariance quantifies limbic dysregulation in trait anxious adults using fMRI: adapting methods optimized for characterizing autonomic dysregulation to neural dynamic time series.  

PubMed

In a well-regulated control system, excitatory and inhibitory components work closely together with minimum lag; in response to inputs of finite duration, outputs should show rapid rise and, following the input's termination, immediate return to baseline. The efficiency of this response can be quantified using the power spectrum density's scaling parameter beta, a measure of self-similarity, applied to the first derivative of the raw signal. In this study, we adapted power spectrum density methods, previously used to quantify autonomic dysregulation (heart rate variability), to neural time series obtained via functional MRI. The negative feedback loop we investigated was the limbic system, using affect-valent faces as stimuli. We hypothesized that trait anxiety would be related to efficiency of regulation of limbic responses, as quantified by power-law scaling of fMRI time series. Our results supported this hypothesis, showing moderate to strong correlations of trait anxiety and beta (r=0.45-0.54) for the amygdala, orbitofrontal cortex, hippocampus, superior temporal gyrus, posterior insula, and anterior cingulate. Strong anticorrelations were also found between the amygdala's beta and wake heart rate variability (r=-0.61), suggesting a robust relationship between dysregulated limbic outputs and their autonomic consequences. PMID:20025979

Tolkunov, Denis; Rubin, Denis; Mujica-Parodi, Lr

2010-03-01

340

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

PubMed

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

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

2014-01-01

341

Detection of New Delhi metallo-beta-lactamase and extended-spectrum beta-lactamase genes in Escherichia coli isolated from mastitic milk samples.  

PubMed

In this study, eight Escherichia coli isolates were obtained from milk samples of dairy cattle suffering from clinical/subclinical mastitis. Isolates were characterized for antimicrobial resistance traits and virulence genes. Results revealed that one isolate was harbouring New Delhi metallo-beta-lactamase gene (blaNDM ). Cloning and sequencing of the PCR amplicon confirmed the identity of the gene (GenBank accession no. KC769583) having 100% homology with blaNDM-5 (GenBank accession no. JN104597.1), and this isolate was susceptible to colistin, chloramphenicol and tetracycline only. Moreover, another isolate carried extended-spectrum beta-lactamase (ESBL) gene - blaCTX-M , and all isolates possessed blaTEM gene. Of the eight isolates, only one isolate was positive for shiga toxin gene (stx2), and none were harbouring stx1 gene. Occurrence of New Delhi metallo-beta-lactamase (blaNDM ) in one E. coli isolate and ESBL genes in other isolates poses a potential threat to human health following possible entry and spread through food chain. PMID:23870003

Ghatak, S; Singha, A; Sen, A; Guha, C; Ahuja, A; Bhattacharjee, U; Das, S; Pradhan, N R; Puro, K; Jana, C; Dey, T K; Prashantkumar, K L; Das, A; Shakuntala, I; Biswas, U; Jana, P S

2013-10-01

342

From TGF-beta to cancer therapy.  

PubMed

This article will introduce a novel concept in the use of TGF-beta insensitive host immune cells in cancer therapy. TGF-beta is a multi-functional cytokine. At a cellular level, it mediates cellular proliferation, growth arrest, differentiation and apoptosis. Because of the above cellular effects, TGF-beta is able to regulate a host of patho-physiological events in vivo, such as normal embryonic development, angiogenesis in tumor tissues, malignant transformation and immune surveillance. As a general rule, its direct effect on cancer cells is inhibition to cancer growth. However cancer cells are able to acquire the ability to evade this inhibitory effect of TGF-beta by becoming insensitive to TGF-beta. Furthermore, these malignant cells are able to produce large quantities of TGF-beta. The consequence of over expression of TGF-beta by cancer cells is an important factor for subsequent tumor progression. The excess amount of TGF-beta promotes tumor angiogenesis and immune suppression. The latter effect of TGF-beta is the most devastating to the host. The present discussion is focused on the role of TGF-beta insensitive immune cells in cancer growth. The host immune system offers a natural defense program against cancer. But, this natural immune surveillance is rendered ineffective by an overproduction of TGF-beta derived from the tumor cells. Rendering the host immune cells insensitive to TGF-beta in a gene therapy program offers a hope for us to successfully combat against cancer. Based on the above discussion, it is encouraging that there is a possibility for us to achieve a cure in cancer using TGF-beta insensitive immune cells in gene therapy. PMID:12643474

Huang, Xuemei; Lee, Chung

2003-04-01

343

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/...

344

Serum 25-hydroxyvitamin D levels in thalassaemia.  

PubMed Central

Serum 25-hydroxyvitamin D levels were measured in 36 thalassaemic children and 27 controls aged 5-15 years. Blood specimens were collected from the beginning of April until the end of October 1976. We considered as the winter period the first 3 months and the summer period the last 4 months. We found that (a) thalassaemic children had lower levels of serum 25-hydroxyvitamin D than controls: (b) there was a seasonal variation of serum 25-hydroxyvitamin D in both groups; and (c) the thalassaemic children had malabsorption of vitamin D. We suggest that the bone lesions in thalassaemic children are related to vitamin D deficiency. PMID:646452

Tsitoura, S; Amarilio, N; Lapatsanis, P; Pantelakis, S; Doxiadis, S

1978-01-01

345

Statistical genetics and evolution of quantitative traits  

NASA Astrophysics Data System (ADS)

The distribution and heritability of many traits depends on numerous loci in the genome. In general, the astronomical number of possible genotypes makes the system with large numbers of loci difficult to describe. Multilocus evolution, however, greatly simplifies in the limit of weak selection and frequent recombination. In this limit, populations rapidly reach quasilinkage equilibrium (QLE) in which the dynamics of the full genotype distribution, including correlations between alleles at different loci, can be parametrized by the allele frequencies. This review provides a simplified exposition of the concept and mathematics of QLE which is central to the statistical description of genotypes in sexual populations. Key results of quantitative genetics such as the generalized Fisher’s “fundamental theorem,” along with Wright’s adaptive landscape, are shown to emerge within QLE from the dynamics of the genotype distribution. This is followed by a discussion under what circumstances QLE is applicable, and what the breakdown of QLE implies for the population structure and the dynamics of selection. Understanding the fundamental aspects of multilocus evolution obtained through simplified models may be helpful in providing conceptual and computational tools to address the challenges arising in the studies of complex quantitative phenotypes of practical interest.

Neher, Richard A.; Shraiman, Boris I.

2011-10-01

346

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

PubMed Central

We have identified chromosomal regions containing quantitative trait loci (QTLs) specifying life history traits in recombinant-inbred strains of the nematode Caenorhabditis elegans. This approach also allows us to examine epistatic interactions between loci and pleiotropic effects on different traits at specific loci. QTLs for mean life span were identified on chromosomes II (near stP101), IV (stP5) and the X (stP61), and QTLs for fertility were identified on II (maP1), III (stP19) and IV (stP51). The QTLs for mean life span accounted for 90% of the genetic component of variance. The loci for mean fertility accounted for 88% of the genetic component of variance. Additional QTLs for temperature-sensitive fertility [II (stP36) and V (stP6)] and internal hatching [IV (stP5)] were also mapped in these crosses. We found evidence for epistatic effects on mean life span between maP1 and bP1 (V), and for epistatic effects on mean fertility between stP36 and stP6, between stP98 (II) and stP192 (V), between maP1 and stP127 (III), between maP1 and stP103 (X), and between stP5 and stP6. Negatively correlated, pleiotropic effects on mean life span and internal hatching were found linked to stP5. PMID:8849889

Shook, D. R.; Brooks, A.; Johnson, T. E.

1996-01-01

347

Is Cyberbullying Related to Trait or State Anger?  

PubMed

Anger is a powerful emotion shared by victims and bullies in both physical and electronic forms of bullying. However, little is known about the specific roles of trait anger and state anger in involvement in bullying episodes. The purpose of this study was to verify which component of anger, trait or state, is more strongly related to physical and cyberbullying and victimization. Students between the ages 11-19 (N = 716, 392 female, 324 male) completed the state trait anger expression inventory-2 child and adolescent and a measure of victimization and bullying. Results for cyberbullying suggested a major vulnerability among bullies and victims to experience anger as a personality trait as well some links between state anger, cyberbullying and cybervictimization. Moreover, the outward, explosive expression of anger appears to be common among cyber and physical bullies. Implications for intervention programs are discussed. PMID:25081097

Lonigro, Antonia; Schneider, Barry H; Laghi, Fiorenzo; Baiocco, Roberto; Pallini, Susanna; Brunner, Thomas

2014-08-01

348

A dyadic-interactional perspective of implicit trait policies  

E-print Network

of complementarity where behavior tends to be complementary on a dimension of dominance-submissiveness and supplementary on a dimension of warmth-coldness. Implicit trait policies are thought to influence judgments of behavioral effectiveness and be influenced...

Benzer, Justin Kane

2009-05-15

349

Species identity influences belowground arthropod assemblages via functional traits  

PubMed Central

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

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

2013-01-01

350

High resolution linkage and association study of quantitative trait loci  

E-print Network

Fhet,singleton,sibs for2, 3and4allelemarkersagainst the heritability at 0.05 significant level, when q1 = 0.25,?2G = 0.75,A = 20,? = 0.005 for a dominant trait a = d = 1.0, Graph I; and a recessive trait a = 1.0 and d = ?0.5, Graph II. For a 2 allele marker, p1 = 0.50,ki... curves of Fhet,singleton for 2, 3 and 4 allele markers against the heritability at 0.05 significant level, when q1 = 0.25,?2G = 0.75,A = 20,? = 0.005 for a dominant trait a = d = 1.0, Graph I; and a recessive trait a = 1.0 and d = ?0.5, Graph II. For a 2...

Jung, Jeesun

2005-11-01

351

Quantitative Genetic Mapping of Life History Traits in Drosophila melanogaster  

E-print Network

uses the elite model system Drosophila melanogaster to perform quantitative genetic mapping on two important life history traits: the morphology of the posterior lobe of the genital arch and the length of time flies resist death due to starvation stress...

McNeil, Casey Lee

2012-08-31

352

RESEARCH ARTICLE Habitat heterogeneity and life-history traits influence  

E-print Network

traits that facilitate a remnant population strategy, such as dormant seeds (e.g., pin cherry, Prunus pensylvanica) or long-life span and competition avoidance (e.g., emergent pioneer species such as tulip poplar

Turner, Monica G.

353

Trait-based approaches to marine microbial ecology  

E-print Network

The goal of this thesis is to understand how the functional traits of species, biotic interactions, and the environment jointly regulate the community ecology of phytoplankton. In Chapter 2, I examined Continuous Plankton ...

Barton, Andrew David

2011-01-01

354

Selective Genotyping and Phenotyping Strategies in a Complex Trait Context  

PubMed Central

Selective genotyping and phenotyping strategies are used to lower the cost of quantitative trait locus studies. Their efficiency has been studied primarily in simplified contexts—when a single locus contributes to the phenotype, and when the residual error (phenotype conditional on the genotype) is normally distributed. It is unclear how these strategies will perform in the context of complex traits where multiple loci, possibly linked or epistatic, may contribute to the trait. We also do not know what genotyping strategies should be used for nonnormally distributed phenotypes. For time-to-event phenotypes there is the additional question of choosing follow-up time duration. We use an information perspective to examine these experimental design issues in the broader context of complex traits and make recommendations on their use. PMID:19153260

Sen, ?aunak; Johannes, Frank; Broman, Karl W.

2009-01-01

355

Floristic patterns and plant traits of Mediterranean communities in  

E-print Network

ORIGINAL ARTICLE Floristic patterns and plant traits of Mediterranean communities in fragmented Plant establishment in early Mediterranean communities may be driven primarily by migration from logarithmically with increasing geographical distance because 1 Laboratoire Evolution et Diversite´ Biologique

Chave, Jérôme

356

The role of trait emotional intelligence in academic performance and deviant behavior at school  

Microsoft Academic Search

This paper examines the role of trait emotional intelligence (‘trait EI') in academic performance and in deviant behavior at school on a sample of 650 pupils in British secondary education (mean age ?16.5 years). Trait EI moderated the relationship between cognitive ability and academic performance. In addition, pupils with high trait EI scores were less likely to have had unauthorized

K. V. Petrides; Norah Frederickson; Adrian Furnham

2004-01-01

357

Broad and Narrow Personality Traits in Relation to the Job Performance of Camp Counselors  

Microsoft Academic Search

We examined personality traits important for the job performance of summer camp counselors, including several of the Big Five and narrow personality traits. Performance was based on two composite scales: social performance and task performance. The personality traits of work drive, extraversion, nurturance, agreeableness, and conscientiousness were significantly related to the social performance measure, and the traits of customer service

James M. Loveland; Lucy W. Gibson; John W. Lounsbury; Beverly C. Huffstetler

2005-01-01

358

Applying the coalitionary-traits metric: sociality without cooperation in male yellow-bellied marmots  

Microsoft Academic Search

Mammalian sociality varies both within and between species. We developed a trait-based method to quantify sociality in a continuous way to study the adaptive utility and evolution of male social behavior. The metric is based on 3 key traits--mutual tolerance, collaboration, and partner preference; males with no traits are not social, whereas those with all 3 traits are described as

Lucretia E. Olson; Daniel T. Blumstein

2010-01-01

359

Composite trait selection to improve reproduction and ewe productivity: a review  

Microsoft Academic Search

Reproductionandeweproductivityarecomplexcompositetraitsthatareinfluencedbyseveralcomponenttraits. Genetic improvement by selection for an individual component trait may not always be advantageous because adverse or neutral genetic relationships can exist among the component traits. Selection for an overall composite trait of ewe productivity, defined as litter weight weaned per ewe joined, can result in a balanced biological composite trait with favourableresponsesincomponenttraitsincludingfertility,numberoflambsborn,lambsurvival,lactationandlambgrowth. Selection for litter weight weaned may

G. D. SnowderA; N. M. FogartyB

2009-01-01

360

Trait Emotional Intelligence, Psychological Well-Being and Peer-Rated Social Competence in Adolescence  

ERIC Educational Resources Information Center

The trait emotional intelligence (trait EI or trait emotional self-efficacy) framework provides comprehensive coverage of emotion-related self-perceptions and dispositions. In this study, we investigated the relationship between trait EI and four distinct socioemotional criteria on a sample of Dutch adolescents (N = 282; 136 girls, 146 boys; mean…

Mavroveli, Stella; Petrides, K. V.; Rieffe, Carolien; Bakker, Femke

2007-01-01

361

It Skips a Generation: Traits, Genes, and Crosses  

NSDL National Science Digital Library

Many of the early discoveries in genetics occured in plants. Plants have a few special characteristics that make them ideal for studying genetics. From one known cross, many genetically similar "siblings" are produced. Building from Gregor Mendel's crosses with peas, students review plant breeding populations and crosses. Emphasis is placed on recessive and dominant traits as well as Mendelian quantitative traits. Questions focus on genetics and evolution.

Elizabeth Rice

2006-01-01

362

Quantifying Variability of Avian Colours: Are Signalling Traits More Variable?  

Microsoft Academic Search

BackgroundIncreased variability in sexually selected ornaments, a key assumption of evolutionary theory, is thought to be maintained through condition-dependence. Condition-dependent handicap models of sexual selection predict that (a) sexually selected traits show amplified variability compared to equivalent non-sexually selected traits, and since males are usually the sexually selected sex, that (b) males are more variable than females, and (c) sexually

Kaspar Delhey; Anne Peters; Tom Tregenza

2008-01-01

363

Internet Addiction: Personality Traits Associated with Its Development  

Microsoft Academic Search

This study investigated personality traits of those considered dependent users of the Internet utilizing the 16PF. Results showed that 259 cases of Dependents were classified based upon modified DSM-IV criteria for Pathological Gambling. Dependents ranked high in terms of self- reliance, emotional sensitivity and reactivity, vigilance, low self-disclosure, and non-conformist characteristics. This preliminary analysis discusses how such traits may act

Kimberly S. Young; Robert C. Rodgers

364

Genetic association analysis of vitamin D pathway with obesity traits  

PubMed Central

Objective Observational studies have examined the link between vitamin D deficiency and obesity traits. Some studies have reported associations between vitamin D pathway genes such as VDR, GC and CYP27B1 with body mass index (BMI) and waist circumference (WC); however, the findings have been inconsistent. Hence, we investigated the involvement of vitamin D metabolic pathway genes in obesity-related traits in a large population-based study. Methods We undertook a comprehensive analysis between 100 tagging polymorphisms (tagSNPs) in genes encoding for DHCR7, CYP2R1, VDBP, CYP27B1, CYP27A1, CYP24A1, VDR and RXRG and obesity traits in 5,224 participants (aged 45 years) in the 1958 British birth cohort (1958BC). We further extended our analyses to investigate the associations between SNPs and obesity traits using the summary statistics from the GIANT (Genetic Investigation of Anthropometric Traits) consortium (n=123,865). Results In the 1958BC (n=5,224), after Bonferroni correction, none of the tagSNPs were associated with obesity traits except for one tagSNP from CYP24A1 that was associated with waist-hip ratio (WHR) (rs2296239, P=0.001). However, the CYP24A1 SNP was not associated with BMI-adjusted WHR (WHRadj) in the 1958BC (rs2296239, P=1.00) and GIANT results (n=123,865, P=0.18). There was also no evidence for an interaction between the tagSNPs and obesity on BMI, WC, WHR and WHRadj in the 1958BC. In the GIANT consortium, none of the tagSNPs were associated with obesity traits. Conclusions Despite a very large study, our findings suggest that the vitamin D pathway genes are unlikely to have a major role in obesity-related traits in the general population. PMID:23381556

Vimaleswaran, Karani Santhanakrishnan; Cavadino, Alana; Berry, Diane J; Whittaker, John C; Power, Chris; Järvelin, Marjo-Riitta; Hyppönen, Elina

2013-01-01

365

Systems genetics of complex traits in Drosophila melanogaster  

Microsoft Academic Search

Determining the genetic architecture of complex traits is challenging because phenotypic variation arises from interactions between multiple, environmentally sensitive alleles. We quantified genome-wide transcript abundance and phenotypes for six ecologically relevant traits in D. melanogaster wild-derived inbred lines. We observed 10,096 genetically variable transcripts and high heritabilities for all organismal phenotypes. The transcriptome is highly genetically intercorrelated, forming 241 transcriptional

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

2009-01-01

366

Generality of leaf trait relationships: A test across six biomes  

SciTech Connect

Convergence in interspecific leaf trait relationships across diverse taxonomic groups and biomes would have important evolutionary and ecological implications. Such convergence has been hypothesized to result from trade-offs that limit the combination of plant traits for any species. Here the authors address this issue by testing for biome differences in the slope and intercept of interspecific relationships among leaf traits: longevity, net photosynthetic capacity (A{sub max}), leaf diffusive conductance (G{sub S}), specific leaf area (SLA), and nitrogen (N) status, for more than 100 species in six distinct biomes of the Americas. The six biomes were: alpine tundra-subalpine forest ecotone, cold temperate forest-prairie ecotone, montane cool temperate forest, desert shrubland, subtropical forest, and tropical rain forest. Despite large differences in climate and evolutionary history, in all biomes mass-based leaf N (N{sub mass}), SLA, G{sub S}, and A{sub max} were positively related to one another and decreased with increasing leaf life span. The relationships between pairs of leaf traits exhibited similar slopes among biomes, suggesting a predictable set of scaling relationships among key leaf morphological, chemical, and metabolic traits that are replicated globally among terrestrial ecosystems regardless of biome or vegetation type. However, the intercept (i.e., the overall elevation of regression lines) of relationships between pairs of leaf traits usually differed among biomes. With increasing aridity across sites, species had greater A{sub max} for a given level of G{sub S} and lower SLA for any given leaf life span. Using principal components analysis, most variation among species was explained by an axis related to mass-based leaf traits (A{sub max}, N, and SLA) while a second axis reflected climate, G{sub S}, and other area-based leaf traits.

Reich, P.B. [Univ. of Minnesota, Saint Paul, MN (United States). Dept. of Forest Resources; Ellsworth, D.S. [Brookhaven National Lab., Upton, NY (United States). Dept. of Applied Science; Walters, M.B. [Michigan State Univ., East Lansing, MI (United States). Dept. of Forestry; Vose, J.M. [Forest Service, Otto, NC (United States). Coweeta Hydrological Lab.; Gresham, C. [Clemson Univ., Georgetown, SC (United States). Baruch Forest Inst.; Volin, J.C. [Florida Atlantic Univ., Davie, FL (United States). Div. of Science; Bowman, W.D. [Inst. of Arctic and Alpine Research, Boulder, CO (United States). Mountain Research Station]|[Univ. of Colorado, Boulder, CO (United States). Dept. of Evolutionary, Population, and Organismic Biology

1999-09-01

367

Trait Anxiety Modulates the Neural Efficiency of Inhibitory Control  

Microsoft Academic Search

An impairment of attentional control in the face of threat-related distracters is well established for high-anxious individuals. Beyond that, it has been hypothesized that high trait anxiety more generally impairs the neural efficiency of cognitive processes requiring attentional control—even in the absence of threat-related stimuli. Here, we use fMRI to show that trait anxiety indeed modulates brain activation and functional

Ulrike Basten; Christine Stelzel; Christian J. Fiebach

2011-01-01

368

Theory and evidence bearing on a Scale of Trait Arousability  

Microsoft Academic Search

Trait Arousability is defined, in part, by strength of arousal response to sudden increases in complexity, variation, novelty,\\u000a and\\/or unexpectedness of stimuli. The Trait Arousability Scale related positively to increases in diastolic pressure when\\u000a angered, to heart disease, incidence of illnesses, conditioned aversions, avoidance of social contacts in high-density dormitories,\\u000a dissatisfaction and lowered performance in high density workplaces, recall of

Albert Mehrabian

1995-01-01

369

LIKABLENESS RATINGS OF 555 PERSONALITY-TRAIT WORDS  

Microsoft Academic Search

100 COLLEGE STUDENTS RATED 555 PERSONALITY-TRAIT WORDS. LIKABLENESS RATINGS OF 555 PERSONALITY-TRAIT WORDS ON LIKABLENESS AS PERSONALITY CHARACTERISTICS. THE MEAN RATINGS AND THEIR VARIANCES ARE TABULATED, TOGETHER WITH AUXILIARY RATINGS ON MEANINGFULNESS. CORRELATIONS OF THE NORMATIVE LIKABLENESS VALUES WITH SIMILAR DATA FROM 3 OTHER UNIVERSITIES RANGED FROM .96-.99. BETWEEN-S VARIABILITY WAS ASSESSED, AND ITS RELEVANCE TO EXPERIMENTAL DESIGN IS DISCUSSED.

NORMAN H. ANDERSON

1968-01-01

370

Personality traits in patients with juvenile myoclonic epilepsy  

Microsoft Academic Search

There is evidence of personality disorders in patients with juvenile myoclonic epilepsy (JME). To date, there have been no published quantitative studies on personality traits in JME. The aim of the work described here was to study a group of patients with JME and quantitatively measure personality traits. We evaluated 42 patients (mean age: 26.57years, SD: 8.38) and 42 controls

Sylvie Moschetta; Lia A. Fiore; Daniel Fuentes; Juliana Gois; Kette D. Valente

2011-01-01

371

Method for preparing Pb-. beta. ''-alumina ceramic  

DOEpatents

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.

Hellstrom, E.E.

1984-08-30

372

Affective traits link to reliable neural markers of incentive anticipation  

PubMed Central

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

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

2013-01-01

373

DSM-5 pathological personality traits and the personality assessment inventory.  

PubMed

Section 3 of the DSM-5 will include a pathological personality trait system rooted in the quantitative epistemology of personality and clinical psychology. This system has the potential to enhance the clinical utility of the diagnostic nosology by providing a means for the dimensional assessment of individuals with psychopathology. However, there is limited research on the associations of DSM-5 traits with common mental disorders and related clinical phenomena as measured by currently popular assessment instruments. The purpose of this article was to evaluate the convergence of the DSM-5 trait system with a well-validated broadband clinical instrument, the Personality Assessment Inventory (PAI). Bivariate correlations were examined and factor analytic methods were used to examine the degree to which the DSM-5 traits and PAI capture common variance in personality and mental health. In a student sample (N = 1,001), we found broad convergence between the DSM-5 traits and PAI, which could be organized effectively using five factors. The implications of these findings for using traits to address issues related to diagnostic co-occurrence and heterogeneity in routine clinical assessment are discussed. PMID:23610235

Hopwood, Christopher J; Wright, Aidan G C; Krueger, Robert F; Schade, Nick; Markon, Kristian E; Morey, Leslie C

2013-06-01

374

Neurolinguistic programming training, trait anxiety, and locus of control.  

PubMed

Training in the neurolinguistic programming techniques of shifting perceptual position, visual-kinesthetic dissociation, timelines, and change-history, all based on experiential cognitive processing of remembered events, leads to an increased awareness of behavioral contingencies and a more sensitive recognition of environmental cues which could serve to lower trait anxiety and increase the sense of internal control. This study reports on within-person and between-group changes in trait anxiety and locus of control as measured on the Spielberger State-Trait Anxiety Inventory and Wallston, Wallston, and DeVallis' Multiple Health Locus of Control immediately following a 21-day residential training in neurolinguistic programming. Significant with-in-person decreases in trait-anxiety scores and increases in internal locus of control scores were observed as predicted. Chance and powerful other locus of control scores were unchanged. Significant differences were noted on trait anxiety and locus of control scores between European and U.S. participants, although change scores were similar for the two groups. These findings are consistent with the hypothesis that this training may lower trait-anxiety scores and increase internal locus of control scores. A matched control group was not available, and follow-up was unfortunately not possible. PMID:1620774

Konefal, J; Duncan, R C; Reese, M A

1992-06-01

375

Association Between Floral Traits and Rewards in Erysimum mediohispanicum (Brassicaceae)  

PubMed Central

Background and Aims Floral rewards may be associated with certain morphological floral traits and thus act as underlying factors promoting selection on these traits. This study investigates whether some traits that are under pollinator-mediated selection (flower number, stalk height, corolla diameter, corolla tube length and corolla tube width) in the Mediterranean herb E. mediohispanicum (Brassicaceae) are associated with rewards (pollen and nectar). Methods During 2005 the phenotypic traits and the visitation rate of the main pollinator functional groups were quantified in 720 plants belonging to eight populations in south-east Spain, and during 2006 the same phenotypic traits and the reward production were quantified in 400 additional plants from the same populations. Key Results A significant correlation was found between nectar production rate and corolla tube length, and between pollen production and corolla diameter. Visitation rates of large bees and butterflies were significantly higher in plants exhibiting larger flowers with longer corolla tubes. Conclusions The association between reward production and floral traits may be a factor underlying the pattern of visitation rate displayed by some pollinators. PMID:18424472

Gómez, José M.; Bosch, Jordi; Perfectti, Francisco; Fernández, J. D.; Abdelaziz, Mohamed; Camacho, J. P. M.

2008-01-01

376

A Bayesian Nonparametric Approach for Mapping Dynamic Quantitative Traits  

PubMed Central

In biology, many quantitative traits are dynamic in nature. They can often be described by some smooth functions or curves. A joint analysis of all the repeated measurements of the dynamic traits by functional quantitative trait loci (QTL) mapping methods has the benefits to (1) understand the genetic control of the whole dynamic process of the quantitative traits and (2) improve the statistical power to detect QTL. One crucial issue in functional QTL mapping is how to correctly describe the smoothness of trajectories of functional valued traits. We develop an efficient Bayesian nonparametric multiple-loci procedure for mapping dynamic traits. The method uses the Bayesian P-splines with (nonparametric) B-spline bases to specify the functional form of a QTL trajectory and a random walk prior to automatically determine its degree of smoothness. An efficient deterministic variational Bayes algorithm is used to implement both (1) the search of an optimal subset of QTL among large marker panels and (2) estimation of the genetic effects of the selected QTL changing over time. Our method can be fast even on some large-scale data sets. The advantages of our method are illustrated on both simulated and real data sets. PMID:23770698

Li, Zitong; Sillanpää, Mikko J.

2013-01-01

377

Mass-dependent {beta}-function  

SciTech Connect

Threshold effects related to fermion masses are considered for an all-order {beta}-function based on a background field momentum subtraction scheme. Far away from all thresholds, the suggested {beta}-function reduces to the conjectured all-order form inspired by the Novikov-Shifman-Vainshtein-Zakharov {beta}-function of N=1 supersymmetric gauge theories with a fixed integer number of fermion flavors. At (formally) infinite masses the corresponding pure Yang-Mills {beta}-function is recovered. We discuss applications to the phase diagram of non-Abelian field theories.

Dietrich, Dennis D. [CP3-Origins, Centre for Particle Physics Phenomenology, University of Southern Denmark, Odense (Denmark)

2009-09-15

378

Neurotensin protects pancreatic beta cells from apoptosis.  

PubMed

The survival of pancreatic beta cells depends on the balance between external cytotoxic and protective molecular systems. The neuropeptide neurotensin (NT) has been shown to regulate certain functions of the endocrine pancreas including insulin and glucagon release. However, the mechanism of action of NT as well as the identification of receptors involved in the pancreatic functions of the peptide remained to be studied. We demonstrate here that NT is an efficient protective agent of pancreatic beta cells against cytotoxic agents. Both beta-TC3 and INS-1E cell lines and the mouse pancreatic islet cells express the three known NT receptors. The incubation of beta cells with NT protects cells from apoptosis induced either by staurosporine or by IL-1beta. In beta-TC3 cells, NT activates both MAP and PI-3 kinases pathways and strongly reduces the staurosporine or the Il-1beta-induced caspase-3 activity by a mechanism involving Akt activation. The NTSR2 agonist levocabastine displays the same protective effect than NT whereas the NTSR1 antagonist is unable to block the effect of NT suggesting the predominant involvement of the NTSR2 in the action of NT on beta cells. These results clearly indicate for the first time that NT is able to protect endocrine beta cells from external cytotoxic agents, a role well correlated with its release in the circulation after a meal. PMID:18456542

Coppola, Thierry; Béraud-Dufour, Sophie; Antoine, Aurélie; Vincent, Jean-Pierre; Mazella, Jean

2008-01-01

379

TRAIT ANTAGONISM AND THE PROGRESSION OF ARTERIAL THICKENING: WOMEN WITH ANTAGONISTIC TRAITS HAVE SIMILAR CAROTID ARTERIAL THICKNESS AS MEN  

PubMed Central

A large body of evidence links antagonism-related traits with cardiovascular outcomes, but less is known about how psychological traits are associated with intermediate markers of cardiovascular disease. Using a large, community-based sample from Sardinia, Italy (N=5,614), this study examined how trait antagonism (low Agreeableness) and its facets are associated with carotid artery intima-media thickness (IMT), a measure of arterial thickening. Controlling for demographic and cardiovascular risk factors, low Agreeableness, and in particular low Straightforwardness and low Compliance, were associated with greater carotid thickening, measured concurrently and prospectively, and with increases in IMT over three years. Indeed, those in the bottom 10% of Agreeableness had a 40% increase in risk for elevated IMT. Although men have thicker arterial walls, women with antagonistic traits had similar carotid thickening as antagonistic men. Antagonistic individuals, especially those who are manipulative and aggressive, have greater increases in arterial thickening, independent of traditional cardiovascular risk factors. PMID:20713913

Sutin, Angelina R.; Scuteri, Angelo; Lakatta, Edward G.; Tarasov, Kirill V.; Ferrucci, Luigi; Costa, Paul T.; Schlessinger, David; Uda, Manuela; Terracciano, Antonio

2010-01-01

380

Mapping of quantitative trait loci for the bolting trait in Brassica rapa under vernalizing conditions.  

PubMed

Premature bolting can occur occasionally during spring cultivation of heading Chinese cabbage in East Asia when the plants encounter low temperatures (vernalization), leading to economic loss. Breeding bolting-resistant cultivars is the best choice for solving this problem. We looked for QTLs responsible for varietal differences in the bolting trait in Brassica rapa under environmental conditions that promote vernalization. To achieve this goal, we constructed a linkage map with 107 simple sequence repeats and 54 insertion/deletion markers based on a segregating population of 186 F2 individuals. The resulting map consisted of 10 linkage groups and covered a total length of 947.1 cM, with an average genetic distance of 5.84 cM between adjacent markers. QTL analysis of the bolting trait was performed by two phenotypic evaluations (bolting index and flowering time) based on the scores in an F2 population in the spring of 2010, and scores in F2:3 families in autumn 2010 and spring 2011, respectively. Twenty-six QTLs that controlled bolting were detected, accounting for 2.6 to 31.2% of the phenotypic variance. The detected QTLs with large effects co-localized mainly on linkage groups A02, A06, and A07. These QTLs may provide useful information for marker-assisted selection in a breeding program for late bolting or bolting-resistant cultivars in B. rapa crops. PMID:24938603

Wang, Y G; Zhang, L; Ji, X H; Yan, J F; Liu, Y T; Lv, X X; Feng, H

2014-01-01

381

Mapping quantitative trait loci affecting some carcass and meat traits in duck (Anas platyrhynchos).  

PubMed

Contrary to chicken and livestock mammals, duck genome has not been explored much. Nowadays a relatively small number of reports on molecular variability and mapping of loci in Peking ducks has been published. Therefore, the objective of this study was to detect single loci affecting body weight, carcass and meat traits in Peking ducks (Anas platyrhynchos). The study was based on an F2 cross between two parental lines A-55 and GL-30. Phenotypes of 387 birds from generation F2 including carcass and meat quality traits were collected. Linkage map, of the linkage group CAU1, consisting of 29 microsatellite markers was constructed. One highly significant (p?

Mucha, Sebastian; Grajewski, Bartosz; Gornowicz, Ewa; Lisowski, Miros?aw; Radziszewska, Jolanta; Szwaczkowski, Tomasz

2014-11-01

382

Personality trait levels within older couples and between-spouse trait differences as predictors of marital satisfaction  

Microsoft Academic Search

In this study of 125 older couples married for an average of 34 years, multilevel models were computed to simultaneously examine intra-couple personality trait averages and between-spouse trait similarity as predictors of marital satisfaction. Our findings suggest that higher intra-couple levels of extraversion predict marital satisfaction, both husbands and wives. In addition, between-spouse similarity in openness to experience appears associated

Norm O’Rourke; Amy Claxton; Pak Hei Benedito Chou; JuliAnna Z. Smith; Thomas Hadjistavropoulos

2011-01-01

383

Messung des Asymmetrie-Koeffizienten der beta-gamma-Zirkularpolarisationskorrelation an erlaubten beta-Übergängen  

Microsoft Academic Search

The asymmetry coefficient of the beta-circularly-polarized gamma-correlation of allowed beta-decays has been measured for several nuclides with high accuracy. The polarimeter was a new type. Here the magnet is used as Compton-scatterer and as beta-spectrometer at the same time with the advantage that one has four coincidence possibilities between two gamma- and two beta-counters. The results of the measurements are

H. Behrens

1967-01-01

384

Beta beta homodimers exist in native rabbit skeletal muscle tropomyosin and increase after denaturation-renaturation.  

PubMed

Native tropomyosin from rabbit skeletal muscle (RSTm) consists mainly of alpha alpha and alpha beta coiled coils (alpha/beta approximately 3-4/1). In some extant studies, no beta beta molecules have been found. In this study, RSTm from several different preparations was disulfide cross-linked, both preparation and cross-linking being done under nondenaturing conditions. The cross-linked product was assayed for the presence of beta beta molecules cross-linked at both C36 and C190 (beta = beta). In such cross-linked RSTm, 3-8% beta = beta is detected by sodium dodecyl sulfate polyacrylamide gel electrophoresis, C4 reversed-phase high-performance liquid chromatography, and a free-solution capillary electrophoresis experiment. This percentage becomes approximately 4-10% beta beta when corrected for incomplete double cross-linking and is independent of protein concentration (0.1-10.0 mg/mL), indicating that the observed beta beta species are not artifacts due to intermolecular cross-linking. Upon denaturation and subsequent renaturation either by heating to 55 degrees C or by incubating at 45 degrees C followed by quenching to room temperature, or by guanidine hydrochloride exposure followed by phased renaturation by dialysis, the fraction of beta beta increases, indicating that the reassociation favors homodimer formation somewhat over random association. This result differs from the random association observed when the sulfhydryl on one of the chains is carboxyamidomethylated (Holtzer, M.E., Breiner, T., & Holtzer, A., 1984, Biopolymers 23, 1811-1833), and from the overwhelming heterodimer preferences reported for tropomyosins from other organisms (Lehrer, S.S., Qian, Y., & Hvidt, S., 1989, Science 246, 926-928; Lehrer, S.S. & Qian, Y., 1990, J. Biol. Chem. 265, 1134-1138). PMID:1304342

Holtzer, M E; Kidd, S G; Crimmins, D L; Holtzer, A

1992-03-01

385

Beta beta homodimers exist in native rabbit skeletal muscle tropomyosin and increase after denaturation-renaturation.  

PubMed Central

Native tropomyosin from rabbit skeletal muscle (RSTm) consists mainly of alpha alpha and alpha beta coiled coils (alpha/beta approximately 3-4/1). In some extant studies, no beta beta molecules have been found. In this study, RSTm from several different preparations was disulfide cross-linked, both preparation and cross-linking being done under nondenaturing conditions. The cross-linked product was assayed for the presence of beta beta molecules cross-linked at both C36 and C190 (beta = beta). In such cross-linked RSTm, 3-8% beta = beta is detected by sodium dodecyl sulfate polyacrylamide gel electrophoresis, C4 reversed-phase high-performance liquid chromatography, and a free-solution capillary electrophoresis experiment. This percentage becomes approximately 4-10% beta beta when corrected for incomplete double cross-linking and is independent of protein concentration (0.1-10.0 mg/mL), indicating that the observed beta beta species are not artifacts due to intermolecular cross-linking. Upon denaturation and subsequent renaturation either by heating to 55 degrees C or by incubating at 45 degrees C followed by quenching to room temperature, or by guanidine hydrochloride exposure followed by phased renaturation by dialysis, the fraction of beta beta increases, indicating that the reassociation favors homodimer formation somewhat over random association. This result differs from the random association observed when the sulfhydryl on one of the chains is carboxyamidomethylated (Holtzer, M.E., Breiner, T., & Holtzer, A., 1984, Biopolymers 23, 1811-1833), and from the overwhelming heterodimer preferences reported for tropomyosins from other organisms (Lehrer, S.S., Qian, Y., & Hvidt, S., 1989, Science 246, 926-928; Lehrer, S.S. & Qian, Y., 1990, J. Biol. Chem. 265, 1134-1138). PMID:1304342

Holtzer, M. E.; Kidd, S. G.; Crimmins, D. L.; Holtzer, A.

1992-01-01

386

A Pleiotropic Nonadditive Model of Variation in Quantitative Traits  

PubMed Central

A model of mutation-selection-drift balance incorporating pleiotropic and dominance effects of new mutations on quantitative traits and fitness is investigated and used to predict the amount and nature of genetic variation maintained in segregating populations. The model is based on recent information on the joint distribution of mutant effects on bristle traits and fitness in Drosophila melanogaster from experiments on the accumulation of spontaneous and P element-induced mutations. These experiments suggest a leptokurtic distribution of effects with an intermediate correlation between effects on the trait and fitness. Mutants of large effect tend to be partially recessive while those with smaller effect are on average additive, but apparently with very variable gene action. The model is parameterized with two different sets of information derived from P element insertion and spontaneous mutation data, though the latter are not fully known. They differ in the number of mutations per generation which is assumed to affect the trait. Predictions of the variance maintained for bristle number assuming parameters derived from effects of P element insertions, in which the proportion of mutations with an effect on the trait is small, fit reasonably well with experimental observations. The equilibrium genetic variance is nearly independent of the degree of dominance of new mutations. Heritabilities of between 0.4 and 0.6 are predicted with population sizes from 10(4) to 10(6), and most of the variance for the metric trait in segregating populations is due to a small proportion of mutations (about 1% of the total number) with neutral or nearly neutral effects on fitness and intermediate effects on the trait (0.1-0.5?(P)). Much of the genetic variance is contributed by recessive or partially recessive mutants, but only a small proportion (about 10%) of the genetic variance is dominance variance. The amount of apparent selection on the trait itself generated by the model is very small. If a model is assumed in which all mutation events have an effect on the quantitative trait, the majority of the genetic variance is contributed by deleterious mutations with tiny effects on the trait. If such a model is assumed for viability, the heritability is about 0.1, independent of the population size. PMID:7851783

Caballero, A.; Keightley, P. D.

1994-01-01

387

Analyzing global carbon uptake patterns using plant trait data  

NASA Astrophysics Data System (ADS)

Environment and climate are two important factors in determining global terrestrial CO2 flux patterns, as well as vegetation type and structure. At the moment, in many global CO2 flux analyses the vegetation is represented by plant functional types (PFTs). However, the variance in plant traits within PFTs is as large as between them, suggesting that PFTs do not necessary represent patterns of plant traits as found world wide. And while the correlations between plant traits (e.g. foliar nutrients, leaf mass per area) and CO2 uptake are well established at plant level, this is not the case at ecosystem level. The recently established plant trait database TRY (www.TRY-db.org), together with FLUXNET data give us now new opportunities to analyze ecosystem CO2fluxes at global scale using species plant traits rather than PFTs. Analyzing worldwide CO2 flux data with plant traits comes with some challenges regarding the different spatio-and temporal nature of both data types. Therefore, rather than directly using CO2 fluxes (for which each FLUXNET sites has a different seasonality and different diurnal pattern), we can derive so called ecosystem functional properties (EFPs), which are emergent properties of the ecosystem in response to environmental drivers and are influenced by the structural and physiological properties of the ecosystem. The plant traits in turn are scaled up in a way they become an average representative value for the sites in the analysis, and become suitable to compare to EFPs. Here we present the results of a first study that analyzed global patterns of the EFP GPP1000 max (the maximum gross primary productivity at light saturation) with plant traits measured in situ and derived from the TRY database. In addition to presenting the results we discuss the importance of differences in data origins and data quality (e.g. in situ traits vs. database derived traits, leaf area index (LAI) data from auxiliary FLUXNET data vs remotely sensed LAI, etc.) for this type of analysis.

van de Weg, M. J.; Musavi, T. S.; Van Bodegom, P.; Kattge, J.; Mahecha, M. D.; Reichstein, M.; Bahn, M.

2013-12-01

388

Spectroscopic Studies of Double Beta Decays and MOON  

SciTech Connect

This is a brief review of future spectroscopic experiments of neutrino-less double beta decays (0{nu}{beta}{beta}) and the MOON (Mo Observatory Of Neutrinos) project. Spectroscopic 0{nu}{beta}{beta} experiments of MOON, SuperNEMO and DCBA are planned to study Majorana masses in the quasi-degenerate (QD) and inverted mass hierarchy (IH) regions. MOON aims at 0{nu}{beta}{beta} studies with the {nu}-mass sensitivities of 100-30 meV by means of a super ensemble of multi-layer modules, each being consist of a scintillator plate, two tracking detector planes and a thin {beta}{beta} source film.

Ejiri, H. [Research Center for Nuclear Physics, Osaka University, Osaka 567-0047 (Japan); Nuclear Science, Czech Technical University, Brehova, Prague, Czech Republic, National Institute of Radiological Sciences, Chiba, 263-8555 (Japan)

2007-10-12

389

Plant and algal interference in bacterial beta-D-galactosidase and beta-D-glucuronidase assays.  

PubMed Central

Several commonly occurring freshwater and marine plants and algae were screened for beta-D-galactosidase and beta-D-glucuronidase activities by using a 60-min enzyme assay based on the hydrolysis by these enzymes of 4-methylumbelliferyl-beta-D-galactoside and 4-methylumbelliferyl- beta-glucuronide, respectively. All freshwater plant extracts tested showed beta-D-galactosidase activity several at relatively high levels, and a number also showed beta-D-glucuronidase activity. A number of the macroalgae showed no activity of either enzyme, but those showing beta-D-galactosidase activity also showed beta-D-glucuronidase activity. The majority of microalgae showed some beta-D-galactosidase activity, but few showed beta-D-glucuronidase activity. Further studies, using the commercial Colilert test and the marine water formulation of Colilert, revealed that 2 of 11 of the microalgal species and several of the plant extracts tested caused positive reactions. It was concluded that several plant extracts and algae could significantly interfere with the detection of coliform bacteria and Escherichia coli with the use of rapid assays, on the basis of their production of beta-D-galactosidase and beta-D-glucuronidase, respectively. The significance of the plant and algal interferences in tests such as Colilert is dependent on the levels of enzymes released under natural conditions, the dilution which they may undergo, and the numbers of algal cells present. This also applies to interferences in rapid enzyme assays.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7993085

Davies, C M; Apte, S C; Peterson, S M; Stauber, J L

1994-01-01

390

Pin1 promotes production of Alzheimer's amyloid {beta} from {beta}-cleaved amyloid precursor protein  

SciTech Connect

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.

Akiyama, Hirotada [Center for Interdisciplinary Research, Tohoku University (Japan); Institute of Development, Aging and Cancer, Tohoku University (Japan); Shin, Ryong-Woon [Department of Neurological Science, Tohoku University Graduate School of Medicine (Japan); Uchida, Chiyoko [Center for Interdisciplinary Research, Tohoku University (Japan); University Health Center, Ibaraki University, Mito (Japan); Kitamoto, Tetsuyuki [Division of CJD Science and Technology, Department of Prion Research, Tohoku University Graduate School of Medicine (Japan); Uchida, Takafumi [Center for Interdisciplinary Research, Tohoku University (Japan) and Institute of Development, Aging and Cancer, Tohoku University (Japan)]. E-mail: uchidat@cir.tohoku.ac.jp

2005-10-21

391

Plant and algal interference in bacterial beta-D-galactosidase and beta-D-glucuronidase assays.  

PubMed

Several commonly occurring freshwater and marine plants and algae were screened for beta-D-galactosidase and beta-D-glucuronidase activities by using a 60-min enzyme assay based on the hydrolysis by these enzymes of 4-methylumbelliferyl-beta-D-galactoside and 4-methylumbelliferyl- beta-glucuronide, respectively. All freshwater plant extracts tested showed beta-D-galactosidase activity several at relatively high levels, and a number also showed beta-D-glucuronidase activity. A number of the macroalgae showed no activity of either enzyme, but those showing beta-D-galactosidase activity also showed beta-D-glucuronidase activity. The majority of microalgae showed some beta-D-galactosidase activity, but few showed beta-D-glucuronidase activity. Further studies, using the commercial Colilert test and the marine water formulation of Colilert, revealed that 2 of 11 of the microalgal species and several of the plant extracts tested caused positive reactions. It was concluded that several plant extracts and algae could significantly interfere with the detection of coliform bacteria and Escherichia coli with the use of rapid assays, on the basis of their production of beta-D-galactosidase and beta-D-glucuronidase, respectively. The significance of the plant and algal interferences in tests such as Colilert is dependent on the levels of enzymes released under natural conditions, the dilution which they may undergo, and the numbers of algal cells present. This also applies to interferences in rapid enzyme assays.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7993085

Davies, C M; Apte, S C; Peterson, S M; Stauber, J L

1994-11-01

392

Testing for time variation in beta in India  

Microsoft Academic Search

The beta of a stock is important in a variety of contexts, rangingfrom the cost of capital, asset pricing theory, to hedging using indexderivatives. It is common to measure betas by estimating the marketmodel using straight ols in obtaining beta estimates. This assumesthat betas are constant, despite strong economic arguments in favourof time--varying betas.

Syed Abuzar Moonis; Ajay Shah

2002-01-01

393

Functional role of interleukin 1 beta (IL-1 beta) in IL-1 beta- converting enzyme-mediated apoptosis  

PubMed Central

Prointerleukin-1 beta (pro-IL-1 beta) is the only known physiologic substrate of the interleukin-1 beta (IL-1 beta)-converting enzyme (ICE), the founding member of the ICE/ced-3 cell death gene family. Since secreted mature IL-1 beta has been detected after apoptosis, we investigated whether this cytokine, when produced endogenously, plays a role in cell death. We found that hypoxia-induced apoptosis can be inhibited by either the IL-1 receptor antagonist (IL-1Ra) or by neutralizing antibodies to IL-1 or to its type 1 receptor. IL-1Ra also inhibits apoptosis induced by trophic factor deprivation in primary neurons, as well as by tumor necrosis factor alpha in fibroblasts. In addition, during the G1/S phase arrest, mature IL-1 beta induces apoptosis through a pathway independent of CrmA-sensitive gene activity. We also demonstrate that Ice, when expressed in COS cells, requires the coexpression of pro-IL-1 beta for the induction of apoptosis, which is inhibited by IL-1Ra. Interestingly, we found that mature IL-1 beta has antiapoptotic activity when added exogenously before the onset of hypoxia, which we found is caused in part by its ability to downregulate the IL-1 receptor. Our findings demonstrate that pro-IL-1 beta is a substrate of ICE relevant to cell death, and depending on the temporal cellular commitment to apoptosis, mature IL-1 beta may function as a positive or negative mediator of cell death. PMID:8760825

1996-01-01

394

A Bayesian method and its variational approximation for prediction of genomic breeding values in multiple traits  

PubMed Central

Background Genomic selection is an effective tool for animal and plant breeding, allowing effective individual selection without phenotypic records through the prediction of genomic breeding value (GBV). To date, genomic selection has focused on a single trait. However, actual breeding often targets multiple correlated traits, and, therefore, joint analysis taking into consideration the correlation between traits, which might result in more accurate GBV prediction than analyzing each trait separately, is suitable for multi-trait genomic selection. This would require an extension of the prediction model for single-trait GBV to multi-trait case. As the computational burden of multi-trait analysis is even higher than that of single-trait analysis, an effective computational method for constructing a multi-trait prediction model is also needed. Results We described a Bayesian regression model incorporating variable selection for jointly predicting GBVs of multiple traits and devised both an MCMC iteration and variational approximation for Bayesian estimation of parameters in this multi-trait model. The proposed Bayesian procedures with MCMC iteration and variational approximation were referred to as MCBayes and varBayes, respectively. Using simulated datasets of SNP genotypes and phenotypes for three traits with high and low heritabilities, we compared the accuracy in predicting GBVs between multi-trait and single-trait analyses as well as between MCBayes and varBayes. The results showed that, compared to single-trait analysis, multi-trait analysis enabled much more accurate GBV prediction for low-heritability traits correlated with high-heritability traits, by utilizing the correlation structure between traits, while the prediction accuracy for uncorrelated low-heritability traits was comparable or less with multi-trait analysis in comparison with single-trait analysis depending on the setting for prior probability that a SNP has zero effect. Although the prediction accuracy with varBayes was generally lower than with MCBayes, the loss in accuracy was slight. The computational time was greatly reduced with varBayes. Conclusions In genomic selection for multiple correlated traits, multi-trait analysis was more beneficial than single-trait analysis and varBayes was much advantageous over MCBayes in computational time, which would outweigh the loss of prediction accuracy caused by the approximation procedure, and is thus considered a practical method of choice. PMID:23363272

2013-01-01

395

Bayesian methods for estimating GEBVs of threshold traits.  

PubMed

Estimation of genomic breeding values is the key step in genomic selection (GS). Many methods have been proposed for continuous traits, but methods for threshold traits are still scarce. Here we introduced threshold model to the framework of GS, and specifically, we extended the three Bayesian methods BayesA, BayesB and BayesC? on the basis of threshold model for estimating genomic breeding values of threshold traits, and the extended methods are correspondingly termed BayesTA, BayesTB and BayesTC?. Computing procedures of the three BayesT methods using Markov Chain Monte Carlo algorithm were derived. A simulation study was performed to investigate the benefit of the presented methods in accuracy with the genomic estimated breeding values (GEBVs) for threshold traits. Factors affecting the performance of the three BayesT methods were addressed. As expected, the three BayesT methods generally performed better than the corresponding normal Bayesian methods, in particular when the number of phenotypic categories was small. In the standard scenario (number of categories=2, incidence=30%, number of quantitative trait loci=50, h² = 0.3), the accuracies were improved by 30.4%, 2.4%, and 5.7% points, respectively. In most scenarios, BayesTB and BayesTC? generated similar accuracies and both performed better than BayesTA. In conclusion, our work proved that threshold model fits well for predicting GEBVs of threshold traits, and BayesTC? is supposed to be the method of choice for GS of threshold traits. PMID:23149458

Wang, C-L; Ding, X-D; Wang, J-Y; Liu, J-F; Fu, W-X; Zhang, Z; Yin, Z-J; Zhang, Q

2013-03-01

396

Nuclear physics aspects of double beta decay  

E-print Network

Comprehensive description of the phenomenology of the $\\beta\\beta$ decay is given, with emphasis on the nuclear physics aspects. After a brief review of the neutrino oscillation results and of motivation to test the lepton number conservation, the mechanism of the $0\

Petr Vogel

2008-07-15

397

The Beta Cage: Screening Low Radioactive Backgrounds  

NASA Astrophysics Data System (ADS)

The beta cage is a proposed multi-wire proportional chamber that will be the most sensitive device available to screen low-energy (200 keV) betas emitted at rates as low as 10-5 counts keV^1 cm-2 day-1 (of order 10-4 Bq/m^2). The expected sensitivity and details of the construction and commissioning of its prototype chamber are presented. The prototype beta cage is a 50x50x25 cm frame gridded by stacked wire planes contained in a chamber of gas. To reduce background, the chamber contains only enough mass to stop betas of interest. Samples are placed beneath the grid; the wires multiply the betas and collect their electron avalanche. Readouts allow discrimination of its events from background and determination of the beta (or alpha) source. The beta cage has potential use in carbon or tritium dating, with ^3H/^1H sensitivity of 10-20 and ^ 14C/ ^12C sensitivity of 10-18. Its design was motivated by CDMS, whose sensitivity to the dark matter candidate WIMPs is currently limited by low-energy beta contamination.

Poinar, K.; Akerib, D.; Grant, D.; Schnee, R.; Shutt, T.; Golwala, S.; Ahmed, Z.

2006-10-01

398

TGF-beta Signaling in Development  

NSDL National Science Digital Library

The transforming growth factor–&beta; (TGF-&beta;) superfamily comprises nearly 30 growth and differentiation factors that include TGF-&beta;s, activins, inhibins, and bone morphogenetic proteins (BMPs). Multiple members of the TGF-&beta; superfamily serve key roles in stem cell fate commitment. The various members of the family can exhibit disparate roles in regulating the biology of embryonic stem (ES) cells and tumor suppression. For example, TGF-&beta; inhibits proliferation of multipotent hematopoietic progenitors, promotes lineage commitment of neural precursors, and suppresses epithelial tumors. BMPs block neural differentiation of mouse and human ES cells, contribute to self-renewal of mouse ES cells, and also suppress tumorigenesis. ES cells and tumors may be exposed to multiple TGF-&beta; members, and it is likely that the combination of growth factors and cross-talk among the intracellular signaling pathways is what precisely defines stem cell fate commitment. This Connections Map Pathway in the Database of Cell Signaling integrates signaling not only from TGF-&beta; and BMP but also from the ligands nodal and activin, and describes the role of the signaling pathways activated by these ligands in mammalian development. Much of the evidence for the connections shown comes from studies on mouse and human ES cells or mouse knockouts. This pathway is important for understanding not only stem cell biology, but also the molecular effectors of TGF-&beta; and BMP signaling that may contribute to cancer suppression or progression and thus are potential targets for therapeutic intervention.

Krit Kitisin (Georgetown University;Department of Medicine and Lombardi Comprehensive Cancer Center REV); Tapas Saha (Georgetown University;Department of Medicine and Lombardi Comprehensive Cancer Center REV); Tiffany Blake (Georgetown University;Department of Medicine and Lombardi Comprehensive Cancer Center REV); Nady Golestaneh (Georgetown University;Department of Medicine and Lombardi Comprehensive Cancer Center REV); Merlyn Deng (Georgetown University;Department of Medicine and Lombardi Comprehensive Cancer Center REV); Christine Kim (Georgetown University;Department of Medicine and Lombardi Comprehensive Cancer Center REV)

2007-08-14

399

The Beta distribution approach PAULA TATARU  

E-print Network

Betaspikes The Beta distribution approach PAULA TATARU AARHUS UNIVERSITY Bioinformatics Research distribution approach Paula Tataru paula@birc.au.dk AARHUS UNIVERSITY Bioinformatics Research Centre Motivation;Allele frequencies: the Beta distribution approach Paula Tataru paula@birc.au.dk AARHUS UNIVERSITY

Schierup, Mikkel Heide

400

Generalized Beta Mixtures of Gaussians  

PubMed Central

In recent years, a rich variety of shrinkage priors have been proposed that have great promise in addressing massive regression problems. In general, these new priors can be expressed as scale mixtures of normals, but have more complex forms and better properties than traditional Cauchy and double exponential priors. We first propose a new class of normal scale mixtures through a novel generalized beta distribution that encompasses many interesting priors as special cases. This encompassing framework should prove useful in comparing competing priors, considering properties and revealing close connections. We then develop a class of variational Bayes approximations through the new hierarchy presented that will scale more efficiently to the types of truly massive data sets that are now encountered routinely. PMID:25364213

Armagan, Artin; Dunson, David B.; Clyde, Merlise

2012-01-01

401

PBX: the Princeton beta experiment  

SciTech Connect

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.

Bol, K.; Chance, M.; Dewar, R.

1983-09-01

402

Odigo 2.5 beta  

NSDL National Science Digital Library

The latest version of the Odigo instant messaging (IM) software promises users the ability to communicate with both versions of AOL's popular IM services, AOL Instant Messenger (AIM) and ICQ, for the first time. These two services do not work with each other and previous attempts by third parties, such as MSN, to communicate with AIM were blocked by AOL. In addition to instant-messaging with members of these services and other Odigo users, the software offers one-on-one and multi-user chat, email, file transfers, a people finder, a bar graph display of all sites other members are viewing, and other options. Users can learn more about the software and download version 2.5 beta at the Odigo site. Odigo 2.5 supports multiple languages, and a Mac version is in development.

403

Process for reducing beta activity in uranium  

DOEpatents

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.

Briggs, G.G.; Kato, T.R.; Schonegg, E.

1985-04-11

404

Process for reducing beta activity in uranium  

DOEpatents

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.

Briggs, Gifford G. (Cincinnatti, OH); Kato, Takeo R. (Cincinnatti, OH); Schonegg, Edward (Cleves, OH)

1986-01-01

405

Impaired growth of pancreatic exocrine cells in transgenic mice expressing human activin {beta}E subunit  

SciTech Connect

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.

Hashimoto, Osamu [Laboratory of Experimental Animal Science, Faculty of Veterinary Medicine, Kitasato University, School of Veterinary Medicine and Animal Sciences, Towada, Aomori 034-8628 (Japan)]. E-mail: ohashim@vmas.kitasato-u.ac.jp; Ushiro, Yuuki [Laboratory of Experimental Animal Science, Faculty of Veterinary Medicine, Kitasato University, School of Veterinary Medicine and Animal Sciences, Towada, Aomori 034-8628 (Japan); Sekiyama, Kazunari [Laboratory of Experimental Animal Science, Faculty of Veterinary Medicine, Kitasato University, School of Veterinary Medicine and Animal Sciences, Towada, Aomori 034-8628 (Japan); Yamaguchi, Osamu [Laboratory of Experimental Animal Science, Faculty of Veterinary Medicine, Kitasato University, School of Veterinary Medicine and Animal Sciences, Towada, Aomori 034-8628 (Japan); Yoshioka, Kazuki [Laboratory of Veterinary Anatomy, Faculty of Veterinary Medicine, Kitasato University, School of Veterinary Medicine and Animal Sciences, Towada, Aomori 034-8628 (Japan); Mutoh, Ken-Ichiro [Laboratory of Veterinary Anatomy, Faculty of Veterinary Medicine, Kitasato University, School of Veterinary Medicine and Animal Sciences, Towada, Aomori 034-8628 (Japan); Hasegawa, Yoshihisa [Laboratory of Experimental Animal Science, Faculty of Veterinary Medicine, Kitasato University, School of Veterinary Medicine and Animal Sciences, Towada, Aomori 034-8628 (Japan)

2006-03-10

406

Berry and phenology-related traits in grapevine (Vitis vinifera L.): From Quantitative Trait Loci to underlying genes  

PubMed Central

Background The timing of grape ripening initiation, length of maturation period, berry size and seed content are target traits in viticulture. The availability of early and late ripening varieties is desirable for staggering harvest along growing season, expanding production towards periods when the fruit gets a higher value in the market and ensuring an optimal plant adaptation to climatic and geographic conditions. Berry size determines grape productivity; seedlessness is especially demanded in the table grape market and is negatively correlated to fruit size. These traits result from complex developmental processes modified by genetic, physiological and environmental factors. In order to elucidate their genetic determinism we carried out a quantitative analysis in a 163 individuals-F1 segregating progeny obtained by crossing two table grape cultivars. Results Molecular linkage maps covering most of the genome (2n = 38 for Vitis vinifera) were generated for each parent. Eighteen pairs of homologous groups were integrated into a consensus map spanning over 1426 cM with 341 markers (mainly microsatellite, AFLP and EST-derived markers) and an average map distance between loci of 4.2 cM. Segregating traits were evaluated in three growing seasons by recording flowering, veraison and ripening dates and by measuring berry size, seed number and weight. QTL (Quantitative Trait Loci) analysis was carried out based on single marker and interval mapping methods. QTLs were identified for all but one of the studied traits, a number of them steadily over more than one year. Clusters of QTLs for different characters were detected, suggesting linkage or pleiotropic effects of loci, as well as regions affecting specific traits. The most interesting QTLs were investigated at the gene level through a bioinformatic analysis of the underlying Pinot noir genomic sequence. Conclusion Our results revealed novel insights into the genetic control of relevant grapevine features. They provide a basis for performing marker-assisted selection and testing the role of specific genes in trait variation. PMID:18419811

Costantini, Laura; Battilana, Juri; Lamaj, Flutura; Fanizza, Girolamo; Grando, Maria Stella

2008-01-01

407

Quantitative trait loci map for growth and morphometric traits using a channel catfish x blue catfish interspecific hybrid system.  

PubMed

Head length, head depth, head width, body depth, body width, caudal depth, and caudal width and total length and BW were measured for 71 backcross full sibs between the interspecific backcross F1 (female channel catfish [Ictalurus punctatus] × male blue catfish [Ictalurus furcatus]) female × blue catfish male. Body measurements were corrected for both size and the relationship between relative body shape and size, which is critical but usually ignored in fish research. Amplified fragment length polymorphism analysis was used for construction of a QTL map with 44 linkage groups. Eleven of 44 linkage groups had at least 1 significant QTL (P ? 0.05) and 11 of 44 at P = 0.10. Linkage group 19 was unique as it had multiple QTL for every trait measured, except for caudal width for which no QTL was identified on any linkage group. Approximately half of the markers measured were associated with positive effects (increase in size) on the traits and half had negative effects (decrease in size). Linkage groups 5, 9, 18, 20, 39, and 40 were significant for multiple traits and always had a trait negative effect. Total length is represented on the map by the most linkage groups and the most markers. The linkage relationships found among BW, total length, and the 7 morphometric traits indicated that multiple trait marker-assisted selection to simultaneously increase BW body depth, body width, and caudal depth while decreasing the head traits with the goal to increase body weight and carcass yield would be very difficult. Multiple genetic enhancement approaches would likely be needed to simultaneously improve BW and body conformation. PMID:24663183

Hutson, A M; Liu, Z; Kucuktas, H; Umali-Maceina, G; Su, B; Dunham, R A

2014-05-01

408

Beta-dosimetry studies at LLNL  

SciTech Connect

This paper summarizes three beta-dosimetry studies made recently at the Lawrence Livermore National Laboratory. The first study was to determine the beta-gamma exposure rates at the Los Alamos Godiva IV Critical Assembly. The beta spectra from the assembly were evaluated using absorption curves and the beta-gamma dose-rate ratios were determined at various distances from the assembly. A comparison was made of the doses determined using two types of TLD personnel dosimeters and a film badge. The readings of an Eberline RO-7 instrument and the dose rates determined by TLDs were compared. Shielding provided by various metals, gloves, and clothing were measured. The second study was to determine the beta energy response of the Eberline RO-7 instrument based on measurements made with the PTB beta sources. This study required additional calibration points for the PTB sources which were made using extrapolation chamber measurements. The third study resulted in two techniques to determine the beta energy (E/sub max/) from the readings of this-window portable survey instruments. Both techniques are based on the readings obtained using aluminium filters. One technique is for field application, requires one filter, and provides a quick estimate of the beta energy in three energy groups: < 0.5 MeV, 0.5 MeV to 1.5 MeV and > 1.5 MeV. The second technique is more complex requiring measurements with two or three filters, but gives the beta energy and the approximate shape of the beta spectrum. 9 references, 6 figures.

Hankins, D.E.

1983-01-01

409

Are plant-soil feedback responses explained by plant traits?  

PubMed

Plant-soil feedbacks can influence plant growth and community structure by modifying soil biota and nutrients. Because most research has been performed at the species level and in monoculture, our ability to predict responses across species and in mixed communities is limited. As plant traits have been linked to both soil properties and plant growth, they may provide a useful approach for an understanding of feedbacks at a generic level. We measured how monocultures and mixtures of grassland plant species with differing traits responded to soil that had been conditioned by model grassland plant communities dominated by either slow- or fast-growing species. Soils conditioned by the fast-growing community had higher nitrogen availability than those conditioned by the slow-growing community; these changes influenced future plant growth. Effects were stronger, and plant traits had greater predictive power, in mixtures than in monocultures. In monoculture, all species produced more above-ground biomass in soil conditioned by the fast-growing community. In mixtures, slow-growing species produced more above-ground biomass, and fast-growing species produced more below-ground biomass, in soils conditioned by species with similar traits. The use of a plant trait-based approach may therefore improve our understanding of differential plant species responses to plant-soil feedbacks, especially in a mixed-species environment. PMID:24995955

Baxendale, Catherine; Orwin, Kate H; Poly, Franck; Pommier, Thomas; Bardgett, Richard D

2014-10-01

410

Are we underestimating the genetic variances of dimorphic traits?  

PubMed Central

Populations often contain discrete classes or morphs (e.g., sexual dimorphisms, wing dimorphisms, trophic dimorphisms) characterized by distinct patterns of trait expression. In quantitative genetic analyses, the different morphs can be considered as different environments within which traits are expressed. Genetic variances and covariances can then be estimated independently for each morph or in a combined analysis. In the latter case, morphs can be considered as separate environments in a bivariate analysis or entered as fixed effects in a univariate analysis. Although a common approach, we demonstrate that the latter produces downwardly biased estimates of additive genetic variance and heritability unless the quantitative genetic architecture of the traits concerned is perfectly correlated between the morphs. This result is derived for four widely used quantitative genetic variance partitioning methods. Given that theory predicts the evolution of genotype-by-environment (morph) interactions as a consequence of selection favoring different trait combinations in each morph, we argue that perfect correlations between the genetic architectures of the different morphs are unlikely. A sampling of the recent literature indicates that the majority of researchers studying traits expressed in different morphs recognize this and do estimate morph-specific quantitative genetic architecture. However, ca. 16% of the studies in our sample utilized only univariate, fixed-effects models. We caution against this approach and recommend that it be used only if supported by evidence that the genetic architectures of the different morphs do not differ. PMID:25691983

Wolak, Matthew E; Roff, Derek A; Fairbairn, Daphne J

2015-01-01

411

Towards molecular breeding of reproductive traits in cereal crops.  

PubMed

The transition from vegetative to reproductive phase, flowering per se, floral organ development, panicle structure and morphology, meiosis, pollination and fertilization, cytoplasmic male sterility (CMS) and fertility restoration, and grain development are the main reproductive traits. Unlocking their genetic insights will enable plant breeders to manipulate these traits in cereal germplasm enhancement. Multiple genes or quantitative trait loci (QTLs) affecting flowering (phase transition, photoperiod and vernalization, flowering per se), panicle morphology and grain development have been cloned, and gene expression research has provided new information about the nature of complex genetic networks involved in the expression of these traits. Molecular biology is also facilitating the identification of diverse CMS sources in hybrid breeding. Few Rf (fertility restorer) genes have been cloned in maize, rice and sorghum. DNA markers are now used to assess the genetic purity of hybrids and their parental lines, and to pyramid Rf or tms (thermosensitive male sterility) genes in rice. Transgene(s) can be used to create de novo CMS trait in cereals. The understanding of reproductive biology facilitated by functional genomics will allow a better manipulation of genes by crop breeders and their potential use across species through genetic transformation. PMID:18507792

Dwivedi, Sangam; Perotti, Enrico; Ortiz, Rodomiro

2008-08-01

412

Relationships Between Traits of Stream Assemblages and Hydraulics  

NASA Astrophysics Data System (ADS)

The objective of this contribution is to provide a comparative discussion, across spatial scales (microhabitat, reach) and biological groups (fish, macroinvertebrates), of previous results concerning the relationships between traits of stream assemblages and hydraulics. At the microhabitat scale, some traits related to morphology or longevity respond to hydraulics 'consistently' for fish and macroinvertebrates. Responses of feeding habits and locomotion patterns are more specific to macroinvertebrates. Relationships between traits and hydraulics are generally weak at the microhabitat scale. Only trends can be observed at this scale, where assemblages are unsteady and partly random. Relationships between traits and hydraulics at the reach scale are stronger than those observed at the microhabitat scale, for both fish and macroinvertebrates. They are generally consistent with relationships observed at the microhabitat scale. Therefore, repeated microhabitat constraints may have a strong impact on the structure of assemblages in stream reaches. Tracks for improving our models of functional responses to hydraulics include using more appropriate definitions of microhabitat characteristics, using more quantitative descriptions of species traits, and using models that can reflect alternative strategies to adapt to the environment.

Lamouroux, N.

2005-05-01

413

Pedigree models for complex human traits involving the mitochrondrial genome  

SciTech Connect

Recent biochemical and molecular-genetic discoveries concerning variations in human mtDNA have suggested a role for mtDNA mutations in a number of human traits and disorders. Although the importance of these discoveries cannot be emphasized enough, the complex natures of mitochondrial biogenesis, mutant mtDNA phenotype expression, and the maternal inheritance pattern exhibited by mtDNA transmission make it difficult to develop models that can be used routinely in pedigree analyses to quantify and test hypotheses about the role of mtDNA in the expression of a trait. In the present paper, the authors describe complexities inherent in mitochondrial biogenesis and genetic transmission and show how these complexities can be incorporated into appropriate mathematical models. The authors offer a variety of likelihood-based models which account for the complexities discussed. The derivation of the models is meant to stimulate the construction of statistical tests for putative mtDNA contribution to a trait. Results of simulation studies which make use of the proposed models are described. The results of the simulation studies suggest that, although pedigree models of mtDNA effects can be reliable, success in mapping chromosomal determinants of a trait does not preclude the possibility that mtDNA determinants exist for the trait as well. Shortcomings inherent in the proposed models are described in an effort to expose areas in need of additional research. 58 refs., 5 figs., 2 tabs.

Schork, N.J.; Guo, S.W. (Univ. of Michigan, Ann Arbor, MI (United States))

1993-12-01

414

Altered structural connectivity and trait anhedonia in patients with schizophrenia.  

PubMed

This study tested association between anhedonia scores and white matter integrity in order to investigate the neural basis of trait anhedonia in schizophrenia. A total of 31 patients with schizophrenia and 33 healthy controls underwent diffusion weighted imaging and scoring of trait anhedonia using the Physical Anhedonia Scale. Using tract-based spatial statistics, we found that fractional anisotropy values of some white matter regions were differently correlated with Physical Anhedonia Scale scores between the two groups. The white matter regions that were more significantly correlated with trait anhedonia in patients than in controls included the left side of the cingulum, splenium of the corpus callosum, inferior longitudinal fasciculus, superior longitudinal fasciculus I and II, anterior thalamic radiation, and optic radiation. Of these regions, fractional anisotropy values in the cingulum and superior longitudinal fasciculus II were positively correlated with trait anhedonia in patients with schizophrenia. These findings suggest that alterations in structural connectivity within large-scale brain networks, including the default mode and central executive networks, may contribute to the development of trait anhedonia in patients with schizophrenia. PMID:25017826

Lee, Jung Suk; Han, Kiwan; Lee, Seung-Koo; Seok, Jeong-Ho; Kim, Jae-Jin

2014-09-01

415

Trait and state perseverative cognition and the cortisol awakening response.  

PubMed

Perseverative cognition (i.e., rumination, worry) may amplify or maintain cortisol stress responses. The present study examined the effects of trait and state perseverative cognition (PC) on the cortisol awakening response (CAR). We hypothesized that trait PC and state (prior day's) PC would be associated with greater CARs. Undergraduates scoring high (N=77) and low (N=42) on trait PC were included. Participants reported worries about upcoming events and ruminations on past events that occurred throughout the day as a measure of state PC. The next morning, saliva samples were collected 0, 30, 45, and 60min after awakening to assess the CAR. Area under the curve (AUC) and 30-min increase (30-min Inc) were calculated to capture the salivary cortisol total output and increase relative to baseline in the hour after awakening. There was no effect of trait PC on the CAR. In contrast, reports of worrying and/or ruminating the night before predicted greater increases in cortisol concentration and total cortisol output compared to those who neither ruminated nor worried the night before. These effects were not accounted for by depressed mood, anxiety, sleep, or recent stressors. Findings suggest differential effects of trait and state PC on the CAR and highlight the importance of using proximal measures in examining individual differences in the CAR. PMID:21050668

Zoccola, Peggy M; Dickerson, Sally S; Yim, Ilona S

2011-05-01

416

Sickle Cell Trait Protects Against Plasmodium falciparum Infection  

PubMed Central

Although sickle cell trait protects against severe disease due to Plasmodium falciparum, it has not been clear whether sickle trait also protects against asymptomatic infection (parasitemia). To address this question, the authors identified 171 persistently smear-negative children and 450 asymptomatic persistently smear-positive children in Bancoumana, Mali (June 1996 to June 1998). They then followed both groups for 2 years using a cohort-based strategy. Among the 171 children with persistently negative smears, the median time for conversion to smear-positive was longer for children with sickle trait than for children without (274 vs. 108 days, P < 0.001; Cox hazard ratio = 0.56, 95% confidence interval: 0.33, 0.96; P = 0.036). Similar differences were found in the median times to reinfection after spontaneous clearance without treatment (365 days vs. 184 days; P = 0.01). Alternatively, among the 450 asymptomatic children with persistently positive smears, the median time for conversion to smear-negative (spontaneous clearance) was shorter for children with sickle trait than for children without (190 vs. 365 days; P = 0.02). These protective effects of sickle trait against asymptomatic P. falciparum infection under conditions of natural transmission were demonstrable using a cohort-based approach but not when the same data were examined using a cross-sectional approach. PMID:23035141

Billo, Mounkaila A.; Johnson, Eric S.; Doumbia, Seydou O.; Poudiougou, Belco; Sagara, Issaka; Diawara, Sory I.; Diakité, Mahamadou; Diallo, Mouctar; Doumbo, Ogobara K.; Tounkara, Anatole; Rice, Janet; James, Mark A.; Krogstad, Donald J.

2012-01-01

417

Family-based bivariate association tests for quantitative traits.  

PubMed

The availability of a large number of dense SNPs, high-throughput genotyping and computation methods promotes the application of family-based association tests. While most of the current family-based analyses focus only on individual traits, joint analyses of correlated traits can extract more information and potentially improve the statistical power. However, current TDT-based methods are low-powered. Here, we develop a method for tests of association for bivariate quantitative traits in families. In particular, we correct for population stratification by the use of an integration of principal component analysis and TDT. A score test statistic in the variance-components model is proposed. Extensive simulation studies indicate that the proposed method not only outperforms approaches limited to individual traits when pleiotropic effect is present, but also surpasses the power of two popular bivariate association tests termed FBAT-GEE and FBAT-PC, respectively, while correcting for population stratification. When applied to the GAW16 datasets, the proposed method successfully identifies at the genome-wide level the two SNPs that present pleiotropic effects to HDL and TG traits. PMID:19956578

Zhang, Lei; Bonham, Aaron J; Li, Jian; Pei, Yu-Fang; Chen, Jie; Papasian, Christopher J; Deng, Hong-Wen

2009-01-01

418

Linking Post-Translational Modifications and Variation of Phenotypic Traits*  

PubMed Central

Enzymes can be post-translationally modified, leading to isoforms with different properties. The phenotypic consequences of the quantitative variability of isoforms have never been studied. We used quantitative proteomics to dissect the relationships between the abundances of the enzymes and isoforms of alcoholic fermentation, metabolic traits, and growth-related traits in Saccharomyces cerevisiae. Although the enzymatic pool allocated to the fermentation proteome was constant over the culture media and the strains considered, there was variation in abundance of individual enzymes and sometimes much more of their isoforms, which suggests the existence of selective constraints on total protein abundance and trade-offs between isoforms. Variations in abundance of some isoforms were significantly associated to metabolic traits and growth-related traits. In particular, cell size and maximum population size were highly correlated to the degree of N-terminal acetylation of the alcohol dehydrogenase. The fermentation proteome was found to be shaped by human selection, through the differential targeting of a few isoforms for each food-processing origin of strains. These results highlight the importance of post-translational modifications in the diversity of metabolic and life-history traits. PMID:23271801

Albertin, Warren; Marullo, Philippe; Bely, Marina; Aigle, Michel; Bourgais, Aurélie; Langella, Olivier; Balliau, Thierry; Chevret, Didier; Valot, Benoît; da Silva, Telma; Dillmann, Christine; de Vienne, Dominique; Sicard, Delphine

2013-01-01

419

Personality traits in patients with juvenile myoclonic epilepsy.  

PubMed

There is evidence of personality disorders in patients with juvenile myoclonic epilepsy (JME). To date, there have been no published quantitative studies on personality traits in JME. The aim of the work described here was to study a group of patients with JME and quantitatively measure personality traits. We evaluated 42 patients (mean age: 26.57 years, SD: 8.38) and 42 controls (mean age: 26.96, SD: 8.48) using a validated personality inventory, the Temperament and Character Inventory (TCI). We applied two scores, one for the Beck Depression Inventory and one for the State-Trait-Anxiety Inventory, as depression and anxiety may impact the performance of these patients on the TCI. We compared both groups on TCI scales using analysis of covariance with Beck Depression Inventory and State-Trait-Anxiety Inventory scores as covariates. Patients with JME obtained significantly higher scores on Novelty Seeking (P=0.001) and Harm Avoidance (P=0.002) and significantly lower scores on Self-Directedness (P=0.001). Patients with JME have a higher expression of impulsive personality traits that demand early recognition to avoid further consequences and facilitate social insertion, consequently avoiding future stigma. PMID:21683658

Moschetta, Sylvie; Fiore, Lia A; Fuentes, Daniel; Gois, Juliana; Valente, Kette D

2011-08-01

420

Positive Traits Linked to Less Pain through Lower Pain Catastrophizing  

PubMed Central

The present study examined the association between positive traits, pain catastrophizing, and pain perceptions. We hypothesized that pain catastrophizing would mediate the relationship between positive traits and pain. First, participants (n = 114) completed the Trait Hope Scale, the Life Orientation Test- Revised, and the Pain Catastrophizing Scale. Participants then completed the experimental pain stimulus, a cold pressor task, by submerging their hand in a circulating water bath (0º Celsius) for as long as tolerable. Immediately following the task, participants completed the Short-Form McGill Pain Questionnaire (MPQ-SF). Pearson correlation found associations between hope and pain catastrophizing (r = ?.41, p < .01) and MPQ-SF scores (r = ?.20, p < .05). Optimism was significantly associated with pain catastrophizing (r = ?.44, p < .01) and MPQ-SF scores (r = ?.19, p < .05). Bootstrapping, a non-parametric resampling procedure, tested for mediation and supported our hypothesis that pain catastrophizing mediated the relationship between positive traits and MPQ-SF pain report. To our knowledge, this investigation is the first to establish that the protective link between positive traits and experimental pain operates through lower pain catastrophizing. PMID:22199416

Hood, Anna; Pulvers, Kim; Carrillo, Janet; Merchant, Gina; Thomas, Marie

2011-01-01

421

Up hill, down dale: quantitative genetics of curvaceous traits  

PubMed Central

‘Repeated’ measurements for a trait and individual, taken along some continuous scale such as time, can be thought of as representing points on a curve, where both means and covariances along the trajectory can change, gradually and continually. Such traits are commonly referred to as ‘function-valued’ (FV) traits. This review shows that standard quantitative genetic concepts extend readily to FV traits, with individual statistics, such as estimated breeding values and selection response, replaced by corresponding curves, modelled by respective functions. Covariance functions are introduced as the FV equivalent to matrices of covariances. Considering the class of functions represented by a regression on the continuous covariable, FV traits can be analysed within the linear mixed model framework commonly employed in quantitative genetics, giving rise to the so-called random regression model. Estimation of covariance functions, either indirectly from estimated covariances or directly from the data using restricted maximum likelihood or Bayesian analysis, is considered. It is shown that direct estimation of the leading principal components of covariance functions is feasible and advantageous. Extensions to multi-dimensional analyses are discussed. PMID:16048787

Meyer, Karin; Kirkpatrick, Mark

2005-01-01

422

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 ...

423

21 CFR 886.5100 - Ophthalmic beta radiation source.  

Code of Federal Regulations, 2010 CFR

...2010-04-01 false Ophthalmic beta radiation source. 886.5100 Section 886...Devices § 886.5100 Ophthalmic beta radiation source. (a) Identification. An ophthalmic beta radiation source is a device intended to...

2010-04-01

424

21 CFR 886.5100 - Ophthalmic beta radiation source.  

Code of Federal Regulations, 2013 CFR

...2013-04-01 false Ophthalmic beta radiation source. 886.5100 Section 886...Devices § 886.5100 Ophthalmic beta radiation source. (a) Identification. An ophthalmic beta radiation source is a device intended to...

2013-04-01

425

21 CFR 886.5100 - Ophthalmic beta radiation source.  

Code of Federal Regulations, 2014 CFR

...2014-04-01 false Ophthalmic beta radiation source. 886.5100 Section 886...Devices § 886.5100 Ophthalmic beta radiation source. (a) Identification. An ophthalmic beta radiation source is a device intended to...

2014-04-01

426

21 CFR 886.5100 - Ophthalmic beta radiation source.  

Code of Federal Regulations, 2011 CFR

...2011-04-01 false Ophthalmic beta radiation source. 886.5100 Section 886...Devices § 886.5100 Ophthalmic beta radiation source. (a) Identification. An ophthalmic beta radiation source is a device intended to...

2011-04-01

427

21 CFR 886.5100 - Ophthalmic beta radiation source.  

Code of Federal Regulations, 2012 CFR

...2012-04-01 false Ophthalmic beta radiation source. 886.5100 Section 886...Devices § 886.5100 Ophthalmic beta radiation source. (a) Identification. An ophthalmic beta radiation source is a device intended to...

2012-04-01

428

Genetics Home Reference: Mucolipidosis III alpha/beta  

MedlinePLUS

... literature OMIM Genetic disorder catalog Conditions > Mucolipidosis III alpha/beta On this page: Description Genetic changes Inheritance ... definitions Reviewed October 2014 What is mucolipidosis III alpha/beta? Mucolipidosis III alpha/beta is a slowly ...

429

Genetics Home Reference: Mucolipidosis II alpha/beta  

MedlinePLUS

... literature OMIM Genetic disorder catalog Conditions > Mucolipidosis II alpha/beta On this page: Description Genetic changes Inheritance ... definitions Reviewed June 2014 What is mucolipidosis II alpha/beta? Mucolipidosis II alpha/beta (also known as ...

430

Modulating executive functioning: trait motivational reactivity and resting HRV.  

PubMed

This study assessed relationships among individual differences in trait motivational reactivity, executive functioning, and neurovisceral regulation of emotion and attention indexed via resting heart rate variability (rHRV). We derived predictions regarding these relationships according to neurovisceral neural network theory. Because lower rHRV has been suggested as an endophenotype of less adaptive behaviour, low rHRV individuals were predicted to have high aversive and low appetitive trait motivational reactivity, while high rHRV individuals were predicted to have high reactivity in both appetitive and aversive motivational systems. These predictions were supported. Motivational reactivity also was related to executive functioning deficits, although the pattern of results was not in the predicted direction. Results suggest that trait motivational reactivity scores are related to visceral responses proposed in the neurovisceral integration circuit as well as in the modulation of these responses by higher-order cognitive control systems related to executive function. PMID:24606341

Bailey, Rachel L; Potter, Robert F; Lang, Annie; Pisoni, David B

2015-01-01

431

Sickle cell trait: not as benign as once thought  

PubMed Central

We describe a case of renal papillary necrosis in a middle-aged female with sickle cell trait who presented with gross hematuria. We wish to highlight this case for several reasons. Sickle cell trait is often viewed as a benign condition despite the fact that it is associated with significant morbidity such as renal papillary necrosis and renal medullary carcinoma. Appropriate evaluation needs to be undertaken to promptly diagnose renal papillary necrosis and differentiate it from renal medullary carcinoma as this can result in deadly consequences for patients. CT urography has emerged as a diagnostic study to evaluate hematuria in such patients. We review the pathophysiology, diagnosis, and management of renal papillary necrosis in patients with sickle cell trait. PMID:25432648

Khan, Uqba; Kleess, Lauren; Yeh, Justin; Berko, Charles; Kuehl, Sapna

2014-01-01

432

Sickle cell trait and sudden death--bringing it home.  

PubMed Central

Sickle cell trait continues to be the leading cause of sudden death for young African Americans in military basic training and civilian organized sports. The syndrome may have caused the death of up to 10 college football players since 1974 and, as recently as 2000, was suspected as the cause of death of three U.S. Army recruits. The penal military-style boot camps in the United States and the recent death of two teenagers with sickle cell trait merits renewed vigor in the education of athletic instructors, the military and the public about conditions associated with sudden death in individuals with sickle cell trait. Images Figure 1 Figure 2 PMID:17393956

Mitchell, Bruce L.

2007-01-01

433

Mapping quantitative trait loci using the MCMC procedure in SAS.  

PubMed

The MCMC procedure in SAS (called PROC MCMC) is particularly designed for Bayesian analysis using the Markov chain Monte Carlo (MCMC) algorithm. The program is sufficiently general to handle very complicated statistical models and arbitrary prior distributions. This study introduces the SAS/MCMC procedure and demonstrates the application of the program to quantitative trait locus (QTL) mapping. A real life QTL mapping experiment in wheat female fertility trait was used as an example for the demonstration. The fertility trait phenotypes were described under three different models: (1) the Poisson model, (2) the Bernoulli model and (3) the zero-truncated Poisson model. One QTL was identified on the second chromosome. This QTL appears to control the switch of seed-producing ability of female plants but does not affect the number of seeds produced once the switch is turned on. PMID:20551982

Xu, S; Hu, Z

2011-02-01

434

Travelling waves for the cane toads equation with bounded traits  

NASA Astrophysics Data System (ADS)

In this paper, we study propagation in a non-local reaction-diffusion-mutation model describing the invasion of cane toads in Australia (Phillips et al 2006 Nature 439 803). The population of toads is structured by a space variable and a phenotypical trait and the space diffusivity depends on the trait. We use a Schauder topological degree argument for the construction of some travelling wave solutions of the model. The speed c* of the wave is obtained after solving a suitable spectral problem in the trait variable. An eigenvector arising from this eigenvalue problem gives the flavour of the profile at the edge of the front. The major difficulty is to obtain uniform L? bounds despite the combination of non-local terms and a heterogeneous diffusivity.

Bouin, Emeric; Calvez, Vincent

2014-09-01

435

Mapping epistatic quantitative trait loci underlying endosperm traits using all markers on the entire genome in a random hybridization design.  

PubMed

Triploid endosperm is of great economic importance owing to its nutritious quality. Mapping endosperm trait loci (ETL) can provide an efficient way to genetically improve grain quality. However, most triploid ETL mapping methods do not produce unbiased estimates of the two dominant effects of ETL. A random hybridization design is an alternative method that may be used to overcome this problem. However, epistasis has an important role in the dissection of genetic architecture for complex traits. In this study, therefore, an attempt was made to map epistatic ETL (eETL) under a triploid genetic model of endosperm traits in a random hybridization design. The endosperm trait means of random hybrid lines, together with known marker genotype information from their corresponding parental F(2) plants, were used to estimate, efficiently and without bias, the positions and all of the effects of eETL using a penalized maximum likelihood method. The method proposed in this article was verified by a series of Monte Carlo simulation experiments. Results from the simulated studies show that the proposed method provides accurate estimates of eETL parameters with a low false-positive rate and a relatively short running time. This new method enables us to map triploid eETL in the same way as diploid quantitative traits. PMID:18461088

He, X-H; Zhang, Y-M

2008-07-01

436

Measuring psychopathic traits in children through self-report. The development of the Youth Psychopathic Traits Inventory-Child Version.  

PubMed

The current article investigates whether self-reports of children provide reliable and valid information concerning psychopathic personality traits and behaviours. For this purpose, we developed a downward extension of an existing adolescent self-report measure; the Youth Psychopathic traits Inventory [YPI; Andershed, H., Kerr, M., Stattin, H., & Levander, S. (2002). Psychopathic traits in non-referred youths: Initial test of a new assessment tool. In E.S. Blaauw, L. (Ed.), Psychopaths: Current international perspectives (pp. 131-158): The Hague: Elsevier], called the Youth Psychopathic traits Inventory-Child Version (YPI-CV). The reliability and validity of the YPI-CV were tested in n=360 children from the general population. The YPI-CV had good internal consistency and a three factor structure similar to the original adolescent version. Test-retest reliability over a 6-month period was adequate. In validating the instrument, both self, teacher and peer report were used. The convergent and divergent validity of the three YPI-CV dimensions was examined by relating each of them to an external criterion measures assessing the same construct. It was concluded that psychopathic traits can be measured reliably and meaningfully through self-report in 9 to 12 year olds and that the YPI-CV is potentially a useful instrument for doing so. PMID:18514316

van Baardewijk, Yoast; Stegge, Hedy; Andershed, Henrik; Thomaes, Sander; Scholte, Evert; Vermeiren, Robert

2008-01-01

437

QTL Mapping of Flowering and Fruiting Traits in Olive  

PubMed Central

One of the challenge fruit growers are facing is to balance between tree production and vegetative growth from year to year. To investigate the existence of genetic determinism for reproductive behaviour in olive tree, we studied an olive segregating population derived from a cross between ‘Olivière’ and ‘Arbequina’ cultivars. Our strategy was based on (i) an annual assessment of individual trees yield, and (ii) a decomposition of adult growth units at the crown periphery into quantitative variables related to both flowering and fruiting process in relation to their growth and branching. Genetic models, including the year, genotype effects and their interactions, were built with variance function and correlation structure of residuals when necessary. Among the progeny, trees were either ‘ON’ or ‘OFF’ for a given year and patterns of regular vs. irregular bearing were revealed. Genotype effect was significant on yield but not for flowering traits at growth unit (GU) scale, whereas the interaction between genotype and year was significant for both traits. A strong genetic effect was found for all fruiting traits without interaction with the year. Based on the new constructed genetic map, QTLs with small effects were detected, revealing multigenic control of the studied traits. Many were associated to alleles from ‘Arbequina’. Genetic correlations were found between Yield and Fruit set at GU scale suggesting a common genetic control, even though QTL co-localisations were in spe`cific years only. Most QTL were associated to flowering traits in specific years, even though reproductive traits at GU scale did not capture the bearing status of the trees in a given year. Results were also interpreted with respect to ontogenetic changes of growth and branching, and an alternative sampling strategy was proposed for capturing tree fruiting behaviour. Regular bearing progenies were identified and could constitute innovative material for selection programs. PMID:23690957

Sadok, Inès Ben; Celton, Jean-Marc; Essalouh, Laila; El Aabidine, Amal Zine; Garcia, Gilbert; Martinez, Sebastien; Grati-Kamoun, Naziha; Rebai, Ahmed; Costes, Evelyne; Khadari, Bouchaib

2013-01-01

438

Immunity Traits in Pigs: Substantial Genetic Variation and Limited Covariation  

PubMed Central

Background Increasing robustness via improvement of resistance to pathogens is a major selection objective in livestock breeding. As resistance traits are difficult or impossible to measure directly, potential indirect criteria are measures of immune traits (ITs). Our underlying hypothesis is that levels of ITs with no focus on specific pathogens define an individual's immunocompetence and thus predict response to pathogens in general. Since variation in ITs depends on genetic, environmental and probably epigenetic factors, our aim was to estimate the relative importance of genetics. In this report, we present a large genetic survey of innate and adaptive ITs in pig families bred in the same environment. Methodology/Principal Findings Fifty four ITs were studied on 443 Large White pigs vaccinated against Mycoplasma hyopneumoniae and analyzed by combining a principal component analysis (PCA) and genetic parameter estimation. ITs include specific and non specific antibodies, seric inflammatory proteins, cell subsets by hemogram and flow cytometry, ex vivo production of cytokines (IFN?, TNF?, IL6, IL8, IL12, IFN?, IL2, IL4, IL10), phagocytosis and lymphocyte proliferation. While six ITs had heritabilities that were weak or not significantly different from zero, 18 and 30 ITs had moderate (0.10.4) heritability values, respectively. Phenotypic and genetic correlations between ITs were weak except for a few traits that mostly include cell subsets. PCA revealed no cluster of innate or adaptive ITs. Conclusions/Significance Our results demonstrate that variation in many innate and adaptive ITs is genetically controlled in swine, as already reported for a smaller number of traits by other laboratories. A limited redundancy of the traits was also observed confirming the high degree of complementarity between innate and adaptive ITs. Our data provide a genetic framework for choosing ITs to be included as selection criteria in multitrait selection programmes that aim to improve both production and health traits. PMID:21829490

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

2011-01-01

439

GSK3beta in ethanol neurotoxicity.  

PubMed

Alcohol consumption during pregnancy is a significant public health problem and may result in a wide range of adverse outcomes for the child. The developing central nervous system (CNS) is particularly susceptible to ethanol toxicity. Children with fetal alcohol spectrum disorders (FASD) have a variety of cognitive, behavioral, and neurological impairments. FASD currently represents the leading cause of mental retardation in North America ahead of Down syndrome and cerebral palsy. Ethanol exposure during development causes multiple abnormalities in the brain such as permanent loss of neurons, ectopic neurons, and alterations in synaptogenesis and myelinogenesis. These alcohol-induced structural alterations in the developing brain underlie many of the behavioral deficits observed in FASD. The cellular and molecular mechanisms of ethanol neurotoxicity, however, remain unclear. Ethanol elicits cellular stresses, including oxidative stress and endoplasmic reticulum stress. Glycogen synthase kinase 3beta (GSK3beta), a multifunctional serine/threonine kinase, responds to various cellular stresses. GSK3beta is particularly abundant in the developing CNS, and regulates diverse developmental events in the immature brain, such as neurogenesis and neuronal differentiation, migration, and survival. Available evidence indicates that the activity of GSK3beta in the CNS is affected by ethanol. GSK3beta inhibition provides protection against ethanol neurotoxicity, whereas high GSK3beta activity/expression sensitizes neuronal cells to ethanol-induced damages. It appears that GSK3beta is a converging signaling point that mediates some of ethanol's neurotoxic effects. PMID:19507062

Luo, Jia

2009-10-01

440

beta(2)-microglobulin: from physiology to amyloidosis.  

PubMed

beta(2)-microglobulin (beta(2)m) is capable of forming amyloid in osteoarticular structures in kidney failure patients that undergo chronic hemodialysis treatment. Although sophisticated analytical methods have yielded comprehensive data about the conformation of the native protein both as a monomer and as the light chain of the type I major histocompatibility complex, the cause and mechanisms leading to the transformation of beta(2)m into amyloid deposits in patients with dialysis-related amyloidosis are unsettled. The impact on conformational stability of various truncations, cleavages, amino acid substitutions, and divalent cations, especially Cu(2+), however, are highly relevant for understanding beta(2)m unfolding pathways leading to amyloid formation. This review describes the current knowledge about such conformationally destabilizing and amyloidogenic factors and links these to the structure and function of beta(2)m in normal physiology and pathology. Tables listing modifications of beta(2)m found in amyloid from patients and a systematic overview of laboratory conditions conducive to beta(2)m-fibrillogenesis are also included. PMID:19657763

Heegaard, Niels H H

2009-01-01