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Sample records for beta thalassaemia trait

  1. Association of Systemic Lupus Erythematosus and Beta Thalassaemia Trait- A Case Report

    PubMed Central

    Marwaha, Saurabh; Bhatnagar, Mini; Parry, Shabir A; Agrawal, Usha

    2016-01-01

    Systemic Lupus Erythematosus (SLE) is a multisystem chronic inflammatory disease of autoimmune aetiology. It has a predilection for female gender and presence of photosensitive rash over the sun exposed area gives a clue to the diagnosis. Diagnosis in a male patient with atypical manifestations is unusual and difficult. A 25-year-old male presented with fever, fatigue, vomiting, abdominal pain and loss of weight. He had sustained injury on his right arm following which he developed abscess at the trauma site and severe anaemia. Further evaluation revealed pancytopenia and peritonitis. Though peritonitis is rare in SLE, it was considered in the differential diagnosis after ruling out bacterial and tubercular peritonitis. Positive anti-dsDNA and antiSm antibodies confirmed the diagnosis. While evaluating for microcytic anaemia it was found that iron studies were normal and A2 fraction was raised in haemoglobin electrophoresis. The symptoms and laboratory parameters improved remarkably with steroid therapy. Beta thalassaemia trait is rare in patients with SLE, but when they co-exist the manifestations can be severe. High degree of suspicion is required to diagnose SLE in male patients in absence of typical photosensitive rash. Beta thalassaemia trait often does not require any treatment except genetic counseling. However empirical treatment with iron should be avoided.

  2. Association of Systemic Lupus Erythematosus and Beta Thalassaemia Trait- A Case Report.

    PubMed

    Agrawal, Bimal Kumar; Marwaha, Saurabh; Bhatnagar, Mini; Parry, Shabir A; Agrawal, Usha

    2016-06-01

    Systemic Lupus Erythematosus (SLE) is a multisystem chronic inflammatory disease of autoimmune aetiology. It has a predilection for female gender and presence of photosensitive rash over the sun exposed area gives a clue to the diagnosis. Diagnosis in a male patient with atypical manifestations is unusual and difficult. A 25-year-old male presented with fever, fatigue, vomiting, abdominal pain and loss of weight. He had sustained injury on his right arm following which he developed abscess at the trauma site and severe anaemia. Further evaluation revealed pancytopenia and peritonitis. Though peritonitis is rare in SLE, it was considered in the differential diagnosis after ruling out bacterial and tubercular peritonitis. Positive anti-dsDNA and antiSm antibodies confirmed the diagnosis. While evaluating for microcytic anaemia it was found that iron studies were normal and A2 fraction was raised in haemoglobin electrophoresis. The symptoms and laboratory parameters improved remarkably with steroid therapy. Beta thalassaemia trait is rare in patients with SLE, but when they co-exist the manifestations can be severe. High degree of suspicion is required to diagnose SLE in male patients in absence of typical photosensitive rash. Beta thalassaemia trait often does not require any treatment except genetic counseling. However empirical treatment with iron should be avoided. PMID:27504333

  3. Enhanced haemolysis with beta-thalassaemia trait due to the unstable beta chain variant, Hb Gunma, accompanied by hereditary elliptocytosis due to protein 4.1 deficiency in a Japanese family.

    PubMed

    Maehara, Tadashi; Tsukamoto, Norifumi; Nojima, Yoshihisa; Karasawa, Masamitsu; Murakami, Hirokazu; Hattori, Yukio; Ideguchi, Hiroshi

    2002-04-01

    We identified a Japanese family with a beta-thalassaemia trait and hereditary elliptocytosis (HE). We studied five members of this family. One was normal, one had only the beta-thalassaemia trait, one had heterozygous HE, and two had compound heterozygous beta-thalassaemia trait and HE. The last two had already undergone splenectomy. The molecular profile of beta-thalassaemia was consistent with that of Hb Gunma: codon 127/128CAGGCT(Gln-Ala)--> CCT(Pro). Analysis of erythrocyte membrane proteins revealed a partial deficiency of protein 4.1 in all those with HE, whereas the spectrin content was within the normal range. Each heterozygous family member with either the beta-thalassaemia trait or HE was asymptomatic, whereas the two with both beta-thalassaemia and HE had marked red blood cell deformities and haemolysis. The abnormalities of the red blood cells in patients with the beta-thalassaemia trait might be enhanced by association with HE owing to a protein 4.1 deficiency. PMID:11918554

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

    PubMed Central

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

    2011-01-01

    Haemoglobin E-beta thalassaemia (Hb E/β-thalassaemia) is the genotype responsible for approximately one-half of all severe beta-thalassaemia worldwide. The disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring transfusions from infancy. The phenotypic variability of Hb E/β-thalassaemia and the paucity of long-term clinical data, present challenges in providing definitive recommendations for the optimal management of patients. Genetic factors influencing the severity of this disorder include the type of beta-thalassaemia mutation, the co-inheritance of alpha-thalassaemia, and polymorphisms associated with increased production of foetal haemoglobin. Other factors, including a variable increase in serum erythropoietin in response to anaemia, previous or ongoing infection with malaria, previous splenectomy and other environmental influences, may be involved. The remarkable variation, and the instability, of the clinical phenotype of Hb E beta-thalassaemia suggests that careful tailoring of treatment is required for each patient, and that therapeutic approaches should be re-assessed over-time. PMID:22089616

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

    PubMed Central

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

    2015-01-01

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

  6. Refractory hyperhaemolysis in a patient with beta-thalassaemia major.

    PubMed

    Grainger, J D; Makar, Y; McManus, A; Wynn, R

    2001-02-01

    We report the case of a 1-year-old girl with newly diagnosed beta-thalassaemia major. Following an initial blood transfusion with phenotypically matched blood, she developed a haemolytic anaemia which progressed with subsequent transfusions. The Direct Antiglobulin test (DAT) was strongly positive with C3d and weakly with IgG. The only free antibodies detected were a weak anti-H and a weak cold auto-antibody, which did not exhibit a wide thermal range. The indirect Donath-Landsteiner and Ham's tests were negative. There was no sustained clinical response to steroids, immunoglobulin infusions or splenectomy. An HLA identical sibling donor was available for allogeneic bone marrow transplantation (BMT) and the haemolysis resolved during the immunosuppressive transplant conditioning. Such hyperhaemolysis without significant red cell alloantibodies has previously been reported in patients with sickle cell anaemia, but only rarely in patients with beta-thalassaemia major. PMID:11328573

  7. Occurrence of circulating immune complexes in beta-thalassaemia major.

    PubMed

    Casali, P; Borzini, P; Vergani, D; Mieli-Vergani, G; Masera, G; Zanussi, C

    1978-02-01

    The presence of circulating soluble immune complexes and the level of complement were investigated in sera from 21 patients with beta-thalassaemia major, including both splenectomised and nonsplenectomised patients. A high level of immune complexes was found in half of these cases. Reduced complement levels were seen less frequently. There was no correlation between the presence of circulating immune complexes, decreased complement levels, and thpresence or absence of the spleen. The level of immune complexes increased with the age ofthe individual, i.e. with the duration of the disease. PMID:646416

  8. A pilot beta-thalassaemia screening program in the Albanian population for a health planning program.

    PubMed

    Baghernajad-Salehi, Leila; D'Apice, Maria Rosaria; Babameto-Laku, Anila; Biancolella, Michela; Mitre, Anila; Russo, Silvia; Di Daniele, Nicola; Sangiuolo, Federica; Mokini, Vahe; Novelli, Giuseppe

    2009-01-01

    In Albania, no definite national screening programme of beta-thalassaemia has yet been developed for carrier detection. Only limited information about the occurrence and the types of haemoglobin abnormalities is available. Thus, an educational and screening programme was carried out in one high school with a total of 217 young students from the coastal province of Lushnja in Albania. The pilot programme included a systematic sampling of whole saliva, DNA genomic extraction and the determination of defective beta-thalassaemia genes by reverse dot-blot hybridization with 22 probes specific for the Mediterranean populations.Of the 201 subjects tested, 17 (8.4%) students turned out to be carriers of beta-thalassaemia mutations and haemoglobin variants. The most common mutation is HbS (c.20A-->T) with a frequency of 3.2%, followed by IVS-I-110 (G-->A) (c.93-21G-->A) substitution identified in 4 out of 402 chromosomes (1%). In the province of Lushnja, the frequency of beta-thalassaemia carriers was high. As expected, the results show that identified mutations in this population are similar to those found in the east Mediterranean area, suggesting the same origin for mutant alleles during migratory streams. Implementation of a routine carrier-screening programme is significantly facilitated by the presence of only two mutations and would be a wise approach to prevent beta-thalassaemia in the region. PMID:19556751

  9. Alpha globin gene analysis in a Sardinian family with interacting alpha and beta thalassaemia genes.

    PubMed

    Melis, M A; Galanello, R; Cao, A

    1983-04-01

    This paper reports the results of alpha globin gene analysis in a Sardinian family with interacting alpha and beta thalassaemia genes. The propositus, who was identified in a newborn survey as he had 26.0% Hb Bart's and 74.0% Hb F, successively developed the clinical and haematological picture of a transfusion-dependent thalassaemia major. According to the haemoglobin pattern, restriction endonuclease analysis of the DNA from this patient showed the deletion of three of the four alpha-globin structural genes. Thus beta 0-thalassaemia homozygotes with the delection of three alpha-structural genes seem to have a severe clinical phenotype similar to that of patients with a full complement of four alpha-globin structural genes. PMID:6299325

  10. Erythroblast- and erythrocyte-bound antibodies in alpha and beta thalassaemia syndromes.

    PubMed

    Wiener, E; Wanachiwanawin, W; Kotipan, K; Fucharoen, S; Wasi, P; Wickramasinghe, S N

    1991-12-01

    Thirty-five Thai patients with various alpha-thalassaemia (alpha-thal 1/alpha-thal 2, alpha-thal 1/HbCS, HbCS/HbCS) and beta-thalassaemia (beta-thal/HbE, severe and mild form, HbE/HbE) syndromes were examined for the presence of immunoglobulins and C3d on o-tolidine positive erythroblasts in the bone marrow, and for the amounts of IgG of some specificities bound to circulating erythrocytes. In mild, but not in severe beta-thal/HbE and in alpha-thalassaemia, the percentages of Ig-positive erythroblasts were significantly higher than in controls and correlated well with the percentage of IgG-positive erythroblasts. By contrast, the percentages of IgM and C3d positive erythroblasts were low and similar in thalassaemic and control marrows. A substantial proportion of thalassaemic patients showed more erythrocyte-bound IgG than controls, but statistically significant elevations were seen only in severe beta-thal/HbE. Within a particular syndrome erythrocyte-bound IgG was more abundant in splenectomized than non-splenectomized subjects. It showed specificity for spectrin in some beta-thalassaemic patients and for band 3 protein in several individuals with alpha- or beta-thalassaemia. The results suggest that IgG antibodies play a role in the haemolysis of thalassaemia and that they are likely to be involved in the ineffective erythropoiesis in at least some of the syndromes studied. PMID:9259854

  11. Prevalence of endocrine complications in beta-thalassaemia major in the Islamic Republic of Iran.

    PubMed

    Karamifar, H; Shahriari, M; Sadjadian, N

    2003-01-01

    To identify the prevalence of endocrine dysfunction in Iranians with beta-thalassaemia, we assessed thyroid, parathyroid, pancreatic and adrenal function in 150 beta-thalassaemic patients aged 10-22 years at the Paediatrics Unit, Shiraz University of Medical Sciences. Primary hypothyroidism was found in 6.0% of patients (mean age: 14.6 +/- 1.9 years), hypoparathyroidism in 7.3% (14.5 +/- 3.2 years), type 1 diabetes mellitus in 7.3% (13.9 +/- 2.8 years) and adrenal insufficiency in 1 patient. The relatively high frequency of endocrine dysfunction found in our study may be a result of poor disease control and management in early life when irreversible tissue damage occurs due to iron overload. These findings reinforce the importance of regular follow-up of patients with beta-thalassaemia major for early detection and management of associated complications. PMID:15562733

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

    PubMed Central

    Donadi, E A; Falcão, R P

    1987-01-01

    Neutrophil chemotaxis was evaluated in 28 patients with sickle cell anaemia, 10 patient with sickle cell beta zero thalassaemia, 25 patients who had undergone splenectomy, and 38 controls. The mean distance migrated by patients' neutrophils was not significantly different from that of neutrophils from controls. Although several immunological variables have been reported to be changed after loss of splenic function, we were unable to show a defect in neutrophil chemotaxis that could account for the increased susceptibility to infection. PMID:3611395

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

    PubMed

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

    1996-01-01

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

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

    PubMed Central

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

    2001-01-01

    OBJECTIVE: To demonstrate the value of a national register for surveillance of services for an inherited disorder. METHODS: Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with beta thalassaemia major, beta thalassaemia intermedia, or haemoglobin E/beta thalassaemia in the United Kingdom. Data were extracted to show outcomes (selective abortion or live birth) of all fetuses and the status of those born with a disorder (alive, dead, successful bone marrow transplant, or lost to follow-up) by parents' region of residence and ethnicity. FINDINGS: At the end of 1999 the register included 1074 patients, 807 of whom were alive and residing in the United Kingdom. A successful bone marrow transplant has been performed for 117 out of 581 (20%) patients born since 1975. Residents of Pakistani origin are now the main group at risk in the United Kingdom, replacing residents of Cypriot origin. This has led to a marked shift in the need for services from the south-east of England to the Midlands and the north of England. Despite the acceptability of prenatal diagnosis, the proportion of affected births remains 50% higher than would be expected, reflecting a widespread failure to deliver timely screening and counselling to carriers. Even though effective treatment is available the annual number of deaths is rising, indicating that better tolerated treatments are needed. CONCLUSION: A national diagnosis register is a powerful instrument for monitoring the treatment and prevention of inherited disorders and for highlighting correctable shortcomings. In view of the increasing possibilities for genetic screening there is a strong case for central funding for such databases within modern health services. PMID:11731807

  15. A chronic hypercoagulable state in patients with beta-thalassaemia major is already present in childhood.

    PubMed

    Eldor, A; Durst, R; Hy-Am, E; Goldfarb, A; Gillis, S; Rachmilewitz, E A; Abramov, A; MacLouf, J; Godefray, Y C; De Raucourt, E; Guillin, M C

    1999-12-01

    A higher than normal incidence of thromboembolic events has been observed in adult patients with beta-thalassaemia major (TM) and certain haemostatic anomalies found in these patients suggest the existence of a chronic hypercoagulable state. Thalassaemic red blood cells (RBC) were demonstrated to facilitate thrombin formation due to altered asymmetry of the membrane phospholipids with enhanced exposure of phosphatidylserine. Since RBC anomalies exist in thalassaemia from the first months of life, we studied markers of hypercoagulability and thrombophilia in 36 adult patients (range 19-38 years) and 26 children (range 2-18 years) with beta-TM. All the patients were in steady state and none had experienced clinical signs or symptoms of thrombosis. Highly elevated urinary levels of 11-dehydro-thromboxane B2 and significantly elevated plasma levels of thrombin-antithrombin III (TAT) complexes were observed to the same extent in TM children and adults. The levels of factor II were decreased while factors V, VII + X and plasminogen were within the normal range. The natural coagulation inhibitors, protein C (PC) and protein S (PS) were significantly decreased in all TM patients investigated, regardless of age, but the PS binding protein (C4bBP) and antithrombin III levels were normal. The frequency of other thrombophilic mutations was not increased. Thus, a chronic hypercoagulable state already exists in thalassaemia in childhood and may contribute to the cardiac and pulmonary anomalies and the thrombotic events which occur later. PMID:10606878

  16. Thalassaemia mutations within the 5'UTR of the human beta-globin gene disrupt transcription.

    PubMed

    Sgourou, Argyro; Routledge, Samantha; Antoniou, Michael; Papachatzopoulou, Adamantia; Psiouri, Lambrini; Athanassiadou, Aglaia

    2004-03-01

    The mechanisms by which mutations within the 5' untranslated region (UTR) of the human beta-globin gene (HBB) cause thalassaemia are currently not well understood. We present here the first comprehensive comparative functional analysis of four 'silent' mutations in the human beta-globin 5'UTR, namely: +10(-T), +22(G --> A), +33(C --> G) and +(40-43)(-AAAC), which are present in patients with beta-thalassaemia intermedia. Expression of these genes under the control of the beta-globin locus control region in stable transfected murine erythroleukaemia cells showed that all four mutations decreased steady state levels of mRNA to 61.6%, 68%, 85.2% and 70.6%, respectively, compared with the wildtype gene. These mutations did not interfere with either mRNA transport from the nucleus to the cytoplasm, 3' end processing or mRNA stability. Nuclear run-on experiments demonstrated that mutations +10(-T) and +33(C --> G) reduced the rate of transcription to a degree that fully accounted for the observed lower level of mRNA accumulation, suggesting a disruption of downstream promoter sequences. Interestingly, mutation +22(G --> A) decreased the rate of transcription to a low degree, indicating the existence of a mechanism that acts post-transcriptionally. Generally, our data demonstrated the significance of functionally analysing mutants of this type in the presence of a full complement of transcriptional regulatory elements within a stably integrated chromatin context in an erythroid cell environment. PMID:15009072

  17. Thalassaemia in Azerbaijan.

    PubMed Central

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

    1994-01-01

    beta thalassaemia is present throughout the southern regions of the former USSR. We have defined the clinical picture of the disorder, the spectrum of beta thalassaemia mutations, and the role of customary consanguineous marriage in Azerbaijan, where thalassaemia presents a public health problem of the same order as that in Greece. Contrary to earlier suggestions, we found that the common form of the disorder is typically severe. Typical Turkish, Mediterranean, Azeri, Kurdish, and Asian Indian mutations were found, consistent with the history of the region. The common Mediterranean beta 0 thalassaemia mutation (codon 39) was not found. Three mutations (codon 8-AA, IVS2-1 and IVS1-110) account for over 80% of beta thalassaemia genes. Consanguineous marriage appears to contribute relatively little to the frequency of affected births. These observations provide the basis for a thalassaemia prevention programme in Azerbaijan. PMID:8014969

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

    PubMed Central

    Aksoy, M; Kutlar, A; Kutlar, F; Dinçol, G; Erdem, S; Baştesbihçi, S

    1985-01-01

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

  19. Family reactions and their management in a parents group with beta-thalassaemia.

    PubMed

    Tsiantis, J; Xypolita-Tsantili, D; Papadakou-Lagoyianni, S

    1982-11-01

    The parents of children with beta-thalassaemia displayed various patterns of emotion (guilt, death anxiety, denial of feelings) and their behaviour towards the child was inappropriate (overprotective, conspiracy of silence); this could affect his psychosocial development and lead to tension within the family. Some parents were overdemanding and even hostile to hospital staff, thus making the management of cases difficult. The therapeutic team has tried to concentrate on these problems in order to clarify them and give support to the families. This has facilitated communication within the family as well as between the family and hospital staff, and had diminished the problems. PMID:7149759

  20. Family reactions and their management in a parents group with beta-thalassaemia.

    PubMed Central

    Tsiantis, J; Xypolita-Tsantili, D; Papadakou-Lagoyianni, S

    1982-01-01

    The parents of children with beta-thalassaemia displayed various patterns of emotion (guilt, death anxiety, denial of feelings) and their behaviour towards the child was inappropriate (overprotective, conspiracy of silence); this could affect his psychosocial development and lead to tension within the family. Some parents were overdemanding and even hostile to hospital staff, thus making the management of cases difficult. The therapeutic team has tried to concentrate on these problems in order to clarify them and give support to the families. This has facilitated communication within the family as well as between the family and hospital staff, and had diminished the problems. PMID:7149759

  1. CLINICAL APPLICATION OF RECOMBINANT ERYTHROPOIETIN IN BETA-THALASSAEMIA INTERMEDIA.

    PubMed

    Asadov, Ch; Alimirzoyeva, Z; Hasanova, M; Mammadova, T; Shirinova, A

    2016-06-01

    Research objective is to study the efficacy of recombinant erythropoietin (epoetin alfa) as alternative method of treatment beta-thalassemia intermedia. Study involved 58 patients with beta-thalassemia intermedia (23 women and 35 men). In all observed patients was defined levels of hemoglobin (Hb), red blood cells (RBC), erythrocyte indexes (MCV, MCH, MCHC), hemoglobin fractions (HbA, HbA2, HbF), serum ferritin, serum erythropoietin before and after administrated rEPO. All patients received rEPO during 6 month at the dose - 10000 IU subcutaneously. The majority of patients - 39 (67%) had a good response to rEPO (increase in hemoglobin level more than 20 g/l); 16 patients (28%) had a mean response (increase in Hb 10 - 20 g/l); in 3 (5%) patients occurred poor response to rEPO therapy (increase in Hb <10 g/l). After rEPO treatment of beta-thalassemia intermedia patients there was a statistically significant change in the number of RBC, levels of HbF and sEPO. The evaluation of interdependence between the indices of the baseline sEPO and increased Hb values in patients after rEPO treatment revealed the presence of the reverse direct relationship (r=-0.67). Based on the results, it can be concluded that the use of rEPO in complex therapy of beta-thalassemia intermedia leads to increased levels of Hb and consequently reducing the need for blood transfusions, and accordingly expected to prevent severe complications of blood transfusion (alloimmunization, hypersplenism, iron overload, contamination transmissible infections) facilitating normal growth and development, and a better quality of life. PMID:27441542

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

    PubMed

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

    1999-02-01

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

  3. Effect of nutrition support on immunity in paediatric patients with beta-thalassaemia major.

    PubMed

    Tienboon, Prasong

    2003-01-01

    Nutritional deficiencies have been variably observed in thalassaemia and the aetiology of many of the immune abnormalities in thalassaemic children are poorly defined. Therefore, we tested the hypothesis that certain immune abnormalities have a nutritional basis. Nutritional status, selective quantitative and functional indices of immunity were studied in twelve children (7 females, 5 males; mean age 28 months, SD 5 and range 19.8-35.5), with thalassaemia major before and after a one month period of intensive nutrition support (the study diet consisted of 'Enfapro' liquid formula (Mead Johnson) with added dextrose and corn oil to achieve a caloric density of 1.1 kcal/cc in addition to vitamins and minerals). Each child was provided approximately 150 kcal/day and 4 g of protein/day. Lymphocyte proliferation to Concanavalin A (Con A) (P = 0.008) and Purified Protein Derivative (PPD) (P = 0.002) was depressed upon entry into the study, however the response to Con A attained normal values by the end of the intervention. Compared to baselines, the proliferative response to Con A (P = 0.005) and Phytohemagglutinin A (PHA) (P = 0.031) both improved after the nutrition support. Although there was no general correlation of zinc status with lymphocyte proliferation, normal baseline zinc status was associated with improvement of proliferation. The %CD4 increased (P = 0.036), primarily because of a decrease in total lymphocytes and to lesser extent a decrease in CD8 lymphocytes. Serum immunoglobulin concentrations were found to be elevated on admission but were not significantly affected by the nutrition intervention. C3 concentrations were uniformly depressed on admission but increased by the end of the study protocol (P = 0.037). C4 and CH50 activity were not significantly influenced by the intervention. In conclusion, children with beta thalassaemia have abnormalities of lymphocyte function as well as key complement components that are responsive to nutrition support. In

  4. Secondary Sea-Blue Histiocytosis in a Patient with Transfusion Dependent HbE-Beta Thalassaemia and Osteosarcoma.

    PubMed

    Saad Eldeen Bakheet, Omayma; Yusof, Nurasyikin; Raja Zahratul, Azma; Ithnin, Azlin; Abdul Aziz, Suria; Alias, Hamidah

    2016-06-01

    Secondary sea-blue histiocytosis occurs more frequently than the primary form and occurs consequent to a wide range of metabolic and haematologic disorders including thalassaemia. We report an 18-year-old Chinese boy with transfusion-dependent HbE-beta thalassaemia who complained of pain and swelling at the left iliac crest region for 2 months duration. Physical examination revealed pallor with hepatosplenomegaly. Local examination revealed a huge swelling 12 cm × 12 cm in diameter, firm in consistency and tender. Histopathological examination of the mass revealed an osteosarcoma. His bone marrow aspirate showed numerous sea-blue histiocytes, the cytoplasm of which was closely packed with fine granules that stained blue with May-Grunwald-Giemsa. The nuclei were centrally located in some cells and displaced towards the periphery in other cells. There was no malignant cell infiltration in the marrow. The case is reported due to the co-incidental dual pathology in our patient (HbE-beta thalassaemia and osteosarcoma) and the unusual bone marrow finding of numerous sea-blue histiocytes. PMID:27408409

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

    PubMed

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

    2000-05-01

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

  6. Effect of ascorbic acid deficiency on serum ferritin concentration in patients with beta-thalassaemia major and iron overload.

    PubMed

    Chapman, R W; Hussain, M A; Gorman, A; Laulicht, M; Politis, D; Flynn, D M; Sherlock, S; Hoffbrand, A V

    1982-05-01

    The incidence of ascorbic acid (AA) deficiency and its effect on serum ferritin concentration relative to body iron stores was studied in 61 unchelated patients with beta-thalassaemia major. Thirty-nine (64%) of patients had subnormal leucocyte ascorbate concentrations without clinical evidence of scurvy. The lowest leucocyte ascorbate concentrations tended to occur in the most transfused patients. No correlation was found between the units transfused and serum ferritin concentration in the AA-deficient patients but a close correlation (r = +0.82; p less than 0.005) existed for the AA-replete group. Similarly a close correlation (r = +0.77; p less than 0.005) was obtained between liver iron concentration and serum ferritin in AA-replete patients but only a weak correlation (r = +0.385; p less than 0.025) existed for the AA-deficient group. When AA-deficient patients were treated with ascorbic acid, serum iron and percentage saturation of iron binding capacity rose significantly; serum ferritin rose in 13 of 21 patients despite the simultaneous commencement of desferrioxamine therapy. In contrast all three measurements tended to fall in AA-replete patients with ascorbic acid and desferrioxamine therapy. Thus, AA deficiency is commonly present in beta-thalassaemia patients with iron overload and may give rise to inappropriate serum ferritin concentrations in relation to body iron stores. PMID:7085892

  7. Immune function in patients with beta thalassaemia receiving the orally active iron-chelating agent deferiprone.

    PubMed

    Loebstein, R; Dalal, I; Nisbet-Brown, E; Berkovitch, M; Meydan, N; Andrews, D; Loubser, M D; Koren, G; Roifman, C M; Olivieri, N F

    1997-09-01

    Short-term deferiprone may reduce body iron in some patients with thalassaemia major. Concerns regarding potential immunosuppressive effects of deferiprone have been raised from results of animal studies and case reports in humans. We studied immune function in 57 thalassaemia patients: 36 treated with deferiprone (L1; CP020) and 21 treated with desferrioxamine (DFO). Circulating B lymphocytes were increased in all patient groups. No differences were detected between treatment groups in percentages of circulating lymphocytes, concentrations of IgG, IgM or IgA, specific antibody titres, complement levels, or in vitro lymphocyte proliferation. No clinically important infections were observed in any patient. These data suggest that no clinical or laboratory changes consistent with immuno-suppression or immunodeficiency are observed during deferiprone therapy. PMID:9332313

  8. α-thalassaemia

    PubMed Central

    2010-01-01

    Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia. It is probably the most common monogenic gene disorder in the world and is especially frequent in Mediterranean countries, South-East Asia, Africa, the Middle East and in the Indian subcontinent. During the last few decades the incidence of alpha thalassaemia in North-European countries and Northern America has increased because of demographic changes. Compound heterozygotes and some homozygotes have a moderate to severe form of alpha thalassaemia called HbH disease. Hb Bart's hydrops foetalis is a lethal form in which no alpha-globin is synthesized. Alpha thalassaemia most frequently results from deletion of one or both alpha genes from the chromosome and can be classified according to its genotype/phenotype correlation. The normal complement of four functional alpha-globin genes may be decreased by 1, 2, 3 or all 4 copies of the genes, explaining the clinical variation and increasing severity of the disease. All affected individuals have a variable degree of anaemia (low Hb), reduced mean corpuscular haemoglobin (MCH/pg), reduced mean corpuscular volume (MCV/fl) and a normal/slightly reduced level of HbA2. Molecular analysis is usually required to confirm the haematological observations (especially in silent alpha-thalassaemia and alpha-thalassaemia trait). The predominant features in HbH disease are anaemia with variable amounts of HbH (0.8-40%). The type of mutation influences the clinical severity of HbH disease. The distinguishing features of the haemoglobin Bart's hydrops foetalis syndrome are the presence of Hb Bart's and the total absence of HbF. The mode of transmission of alpha thalassaemia is autosomal recessive. Genetic counselling is offered to couples at risk for HbH disease or haemoglobin Bart's Hydrops Foetalis Syndrome. Carriers of alpha+- or

  9. Alpha-thalassaemia.

    PubMed

    Harteveld, Cornelis L; Higgs, Douglas R

    2010-01-01

    Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia.It is probably the most common monogenic gene disorder in the world and is especially frequent in Mediterranean countries, South-East Asia, Africa, the Middle East and in the Indian subcontinent. During the last few decades the incidence of alpha thalassaemia in North-European countries and Northern America has increased because of demographic changes. Compound heterozygotes and some homozygotes have a moderate to severe form of alpha thalassaemia called HbH disease. Hb Bart's hydrops foetalis is a lethal form in which no alpha-globin is synthesized. Alpha thalassaemia most frequently results from deletion of one or both alpha genes from the chromosome and can be classified according to its genotype/phenotype correlation. The normal complement of four functional alpha-globin genes may be decreased by 1, 2, 3 or all 4 copies of the genes, explaining the clinical variation and increasing severity of the disease. All affected individuals have a variable degree of anaemia (low Hb), reduced mean corpuscular haemoglobin (MCH/pg), reduced mean corpuscular volume (MCV/fl) and a normal/slightly reduced level of HbA2. Molecular analysis is usually required to confirm the haematological observations (especially in silent alpha-thalassaemia and alpha-thalassaemia trait). The predominant features in HbH disease are anaemia with variable amounts of HbH (0.8-40%). The type of mutation influences the clinical severity of HbH disease. The distinguishing features of the haemoglobin Bart's hydrops foetalis syndrome are the presence of Hb Bart's and the total absence of HbF. The mode of transmission of alpha thalassaemia is autosomal recessive. Genetic counselling is offered to couples at risk for HbH disease or haemoglobin Bart's Hydrops Foetalis Syndrome. Carriers of alpha+- or

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

    PubMed

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

    2016-01-01

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

  11. Identification of echocardiographic indices for the early detection of left-ventricular systolic dysfunction in beta-thalassaemia via Self-Organizing Maps: a data-exploration study.

    PubMed

    Deftereos, Spyros; Georgonikou, Dimitra; Persidis, Andreas; Andronis, Christos; Aessopos, Athanassios

    2005-03-01

    Congestive heart failure (CHF) remains the primary cause of death in patients suffering from beta-thalassaemia major. Its early detection allows the prompt initiation of aggressive chelation therapy, when the condition can still be reversed. We aimed at identifying echocardiographic indices for the early detection of left ventricular (LV) systolic dysfunction, the physiological abnormality underlying CHF, in these patients. We used Self-Organizing Maps (SOMs)--an artificial neural network--for identifying novel correlations within our Electronic Healthcare Record (EHCR) database on beta-thalassaemia. We sought echocardiographic parameters that are correlated to future deterioration of the LV ejection fraction and therefore constitute early signs of LV systolic dysfunction. At the same time, we evaluated SOMs as tools for exploring clinical datasets and make recommendations on the setup of the SOM algorithm that is appropriate for such tasks. We found that high values of the LV end-systolic diameter index and of the E/A ratio are early indications of LV systolic dysfunction. From a technical point of view, zero-mean unit-variance normalization of the input data, a large initial neighbourhood radius and a rectangular SOM grid produced optimal maps for the purpose of detecting clinical correlations. We have successfully used SOMs for exploring a clinical dataset and for creating novel medical hypotheses. A clinical study has been launched to confirm these hypotheses, and initial results are encouraging. PMID:16036629

  12. Increased serum concentrations of tumour necrosis factor in beta thalassaemia: effect of bone marrow transplantation.

    PubMed Central

    Meliconi, R; Uguccioni, M; Lalli, E; Nesci, S; Delfini, C; Paradisi, O; Lucarelli, G; Gasbarrini, G; Facchini, A

    1992-01-01

    AIMS: Serum concentrations of tumour necrosis factor-alpha (TNF) were determined in beta thalassemic patients before and after bone marrow transplantation (BMT) to evaluate whether changes in TNF concentrations after BMT were related to immune mediated complications. METHODS: Serum TNF concentrations were determined by enzyme linked immunoassay (EIA) in paired samples from 71 patients with beta thalassemia before and after BMT. Serial samples from 13 patients were also studied for up to six months after BMT. Forty one normal healthy children matched for sex and age were studied as controls. RESULTS: beta thalassemic patients had high serum TNF concentrations before transplantation compared with controls. These were not related to sex, age, duration of disease, number of blood transfusions, transferrin concentrations or splenectomy. DQw1 positive patients showed significantly lower TNF concentrations than non-DQw1 cases. Patients with severe liver fibrosis had significantly higher TNF concentrations. No correlation was found between TNF values and BMT outcome before transplantation but TNF alpha values fell significantly after BMT. The decrease persisted only in patients with successful engraftment. In serial samples studied for up to six months after BMT, TNF values decreased but in four out of five patients with graft rejection and in all five with acute graft versus host disease (GVHD) sharp increases occurred at the time of clinical symptoms. No correlation was found between the degree of GVHD and serum TNF-alpha concentrations nor between TNF-alpha concentrations after BMT and the presence of bacterial, viral, and fungal infections. CONCLUSIONS: About 50% of beta thalassemic patients have increased serum TNF, and the changes after BMT are related to the occurrence of immune mediate complications. The persistence of low TNF concentrations after successful engraftment may be due to the preparative regimen and the lack of adverse immune reactions. PMID:1740519

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

    PubMed

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

    2014-08-01

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

  14. Evaluation of existing limited sampling models for busulfan kinetics in children with beta thalassaemia major undergoing bone marrow transplantation.

    PubMed

    Balasubramanian, P; Chandy, M; Krishnamoorthy, R; Srivastava, A

    2001-11-01

    Busulfan pharmacokinetic parameters are useful in predicting the outcome of allogeneic bone marrow transplantation (BMT). Standard pharmacokinetic measurements require multiple blood samples. Various limited sampling models (LSM) have been proposed for reducing the sample number required for these measurements, essentially for patients with malignant disorders undergoing BMT. This study was undertaken to evaluate the existing LSM for busulfan pharmacokinetics to find out the most suitable method for patients with thalassaemia major undergoing BMT. Busulfan levels in plasma samples were analysed by HPLC. The AUC calculated by non-compartmental analysis using the program 'TOPFIT' was compared with previously published LSMs. Our seven sample pharmacokinetic data for AUC calculation was compared with the published LSMs. The three sample models suggested by Chattergoon et al and Schuler et al showed significant agreement with AUC TOPFIT (R(2) = 0.98 and 0.94, respectively) in our clinical context. Other models resulted in significant over or under representation of observed values (Vassal's model R(2) = 0.61; Chattergoon's two sample model R(2) = 0.84; four sample model R(2) = 0.83; Schuler's two sample model R(2) = 0.79). By these data the three sample LSM proposed by Chattergoon et al and Schuler et al are suitable for calculation of the AUC in patients with thalassaemia major undergoing BMT conditioned with oral busulfan. PMID:11781641

  15. Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F.

    PubMed Central

    Choccalingam, Chidambharam; Samuel, Premila

    2016-01-01

    Delta-Beta thalassaemia is an unusual variant of thalassaemia with elevated level of foetal haemoglobin (HbF). The clinical presentation of delta-beta thalassaemia is mild in both heterozygote and homozygote cases. We hereby describe a rare cause of elevated Hb F in a father and his two daughters. A 52-year-old diabetic male patient, on evaluation of chromatogram of cation exchange HPLC for HbA1c, we incidentally identified elevated Hb F of approximately 20%. Haematological investigation of the patient revealed decreased haemoglobin, normal RBC, leucocyte and platelet count, decreased MCV and MCH. Red cell morphology showed predominantly normocytic normochromic cells with mild anisopoikilocytosis, few microcytes and hypochromic cells seen. His liver function test was normal. Haemoglobin variant analysis revealed decreased Hb A (79.4%), normal Hb A2 (2%) and increased Hb F (19.75%). A possible diagnosis of heterozygous δ β-thalassaemia was considered. Since most laboratories perform HbA1c by cation exchange HPLC method, a careful evaluation of the chromatogram yields useful information. In our case, the elevated Hb F in a father and further careful evaluation of clinical and haematological parameters in the family members made us to possibly think of rare disorders like heterozygous Delta-Beta thalassaemia in the family and provide valuable genetic counseling. PMID:27134860

  16. Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F.

    PubMed

    Kumar, B Vinodh; Choccalingam, Chidambharam; Samuel, Premila

    2016-03-01

    Delta-Beta thalassaemia is an unusual variant of thalassaemia with elevated level of foetal haemoglobin (HbF). The clinical presentation of delta-beta thalassaemia is mild in both heterozygote and homozygote cases. We hereby describe a rare cause of elevated Hb F in a father and his two daughters. A 52-year-old diabetic male patient, on evaluation of chromatogram of cation exchange HPLC for HbA1c, we incidentally identified elevated Hb F of approximately 20%. Haematological investigation of the patient revealed decreased haemoglobin, normal RBC, leucocyte and platelet count, decreased MCV and MCH. Red cell morphology showed predominantly normocytic normochromic cells with mild anisopoikilocytosis, few microcytes and hypochromic cells seen. His liver function test was normal. Haemoglobin variant analysis revealed decreased Hb A (79.4%), normal Hb A2 (2%) and increased Hb F (19.75%). A possible diagnosis of heterozygous δ β-thalassaemia was considered. Since most laboratories perform HbA1c by cation exchange HPLC method, a careful evaluation of the chromatogram yields useful information. In our case, the elevated Hb F in a father and further careful evaluation of clinical and haematological parameters in the family members made us to possibly think of rare disorders like heterozygous Delta-Beta thalassaemia in the family and provide valuable genetic counseling. PMID:27134860

  17. Metabolic indicators of oxidative stress correlate with haemichrome attachment to membrane, band 3 aggregation and erythrophagocytosis in beta-thalassaemia intermedia.

    PubMed

    Cappellini, M D; Tavazzi, D; Duca, L; Graziadei, G; Mannu, F; Turrini, F; Arese, P; Fiorelli, G

    1999-03-01

    Haematological data, genotype, transfusion requirements, metabolic indicators of oxidative stress (flux via hexose-monophosphate shunt (HMPS); steady state level of GSH and GSSG, NADPH and NADP; activity of anti-oxidant enzymes), parameters of membrane damage (aggregated band 3; membrane-bound haemichromes, autologous immunoglobulins (Igs) and C3 complement fragments) and erythrophagocytosis were measured in erythrocytes (RBC) of 15 beta-thalassaemia intermedia patients (nine splenectomized) with low, if any, transfusion requirements. Patients presented increased aggregated band 3, bound haemichromes, Igs and C3 complement fragments, and increased erythrophagocytosis. Bound haemichromes strongly correlated with aggregated band 3. Anti-band 3 Igs were predominantly associated with aggregated band 3. Erythrophagocytosis positively correlated with aggregated band 3, haemichromes and Igs, suggesting the involvement of haemichrome-induced band 3 aggregation in phagocytic removal of beta-thalassaemic RBC. Splenectomized patients showed higher degrees of membrane damage and phagocytosis, significantly higher numbers of circulating RBC precursors, and tendentially higher numbers of reticulocytes. Basal flux via HMPS was increased twofold, but HMPS stimulation by methylene blue was decreased, as was the glucose flux via HMPS. GSH was remarkably decreased, whereas NADPH was increased. Except for unchanged catalase and glutathione reductase, anti-oxidant enzymes had increased activity. Negative correlation between HMPS stimulation by methylene blue and bound haemichromes indicated that the ability to enhance HMPS may counteract haemichrome precipitation and limit consequent membrane damage leading to erythrophagocytosis. PMID:10086787

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  19. Presence of immunoglobulins, C3 and cytolytic C5b-9 complement components on the surface of erythrocytes from patients with beta-thalassaemia/HbE disease.

    PubMed

    Malasit, P; Mahasorn, W; Mongkolsapaya, J; Singhathong, B; Fucharoen, S; Wasi, P; Bhakdi, S

    1997-03-01

    The occurrence of IgG, IgM, IgA, C3 and C5b-9 complement complexes on erythrocytes from 43 patients with beta-thalassaemia HbE disease was investigated. Indirect immunoradiometric assays using radioiodinated protein A were employed to quantify the individual components. We confirmed that circulating erythrocytes from thalassaemic patients contained elevated amounts of IgG, and small but significant amounts of C3. In addition, small but significant amounts of C5b-9 were detected. Levels of cell-bound IgG, C3 and C5b-9 were higher in splenectomized versus non-splenectomized patients. The presence of C5b-9 on circulating cells from five splenectomized patients was confirmed by an ELISA employing a monoclonal antibody specific for a C5b-9 neoantigen. When C5b-9 positive cells from two patients were solubilized with detergent and subjected to sucrose density gradient centrifugation, the terminal complexes sedimented as 25-40S macromolecules, thus behaving as membrane C5b-9 complexes. The presence of C8 and C9 in these high molecular weight fractions was directly demonstrated by Western blotting. These results constitute the first demonstration that circulating diseased erythrocytes may carry low numbers of potentially cytolytic C5b-9 complement complexes which may be partly responsible for the known ionic disturbances found in thalassaemic cells. Both bound C3 and C5b-9 could promote removal of diseased cells in the reticuloendothelial system. PMID:9054657

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

    PubMed

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

    2008-12-01

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

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

    PubMed

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

    2011-12-01

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

  2. β-Thalassaemia and its Co-existence with Haemoglobin E and Haemoglobin S in Upper Assam Region of North Eastern India: A Hospital Based Study

    PubMed Central

    Deori, Rumi; Saikia, Sidhartha Protim; Pathak, Kalyani; Panyang, Rita; Rajkakati, Rashmi

    2016-01-01

    Introduction β-Thalassaemias are common genetic disorders in the Indian subcontinent and its status has not been well studied in the Upper Assam region of North Eastern India. Aim The aim of the study was to show the prevalence of β- thalassaemias and its co-existence with Haemoglobin E and Haemoglobin S in the Upper Assam region of North Eastern India. Materials and Methods A total of 1200 anaemic patients were investigated for β- thalassaemias. Complete Blood Count (CBC) and High Performance Liquid Chromatography (HPLC) were done for screening. Results Out of 1200 patients screened, 5.83% β-thalassaemia trait, 2.33% compound Hb E/β-Thalassaemia, 1.33% β-thalassaemia major and 0.42% compound Hb S/β- thalassaemia were detected. A high incidence of thalassaemia is found among the people of Upper Assam region of North Eastern India. Conclusion The only way to prevent the disease is carrier detection and awareness among the people about it. PMID:27190829

  3. Prevalence of beta-thalassemia and sickle cell anemia trait in premarital screening in Konya urban area, Turkey.

    PubMed

    Guler, Ekrem; Caliskan, Umran; UcarAlbayrak, Canan; Karacan, Mehmet

    2007-11-01

    Thalassemias and sickle cell anemia (SCA) are common disease in Turkey. To determine the prevalence of beta-thalassemia and SCA traits in Konya urban area of Turkey, all couples applied for marriage procedures were screened. Screening tests included complete blood count and quantitation of hemoglobin for both partners. The subjects were considered to have the beta-thalassemia trait if they had a mean corpuscular volume of less than 80 fL and/or a mean corpuscular hemoglobin level of less than 27 pg and a hemoglobin A2 level of more than 3.2% or a hemoglobin F level of more than 2%. Subjects were considered to have an SCA trait if they were positive for sickle hemoglobin. During the study, premarital screening of hemoglobinopathies was evaluated retrospectively in 72,918 subjects; the thalassemia trait was detected in 1465 subjects (2%), and the SCA trait was detected in 37 subjects (0.05%). Of the carriers of the beta-thalassemia trait, 820 (56%) people had high hemoglobin A2, 513 (35%) people had high hemoglobin F, and 132 (9%) people had both high hemoglobin F and hemoglobin A2. Our results are very similar to Turkey's beta-thalassemia and SCA trait averages. PMID:17984699

  4. Evaluation of nucleated red blood cell count by Sysmex XE-2100 in patients with thalassaemia or sickle cell anaemia and in neonates

    PubMed Central

    Buoro, Sabrina; Vavassori, Mauro; Pipitone, Silvia; Benegiamo, Anna; Lochis, Eleonora; Fumagalli, Sabina; Falanga, Anna; Marchetti, Marina; Crippa, Alberto; Ottomano, Cosimo; Lippi, Giuseppe

    2015-01-01

    Background Current haematology analysers have variable sensitivity and accuracy for counting nucleated red blood cells in samples with low values and in all those conditions characterised by altered sensitivity of red blood cells to the lysing process, such as in beta-thalassaemia or sickle-cell diseases and in neonates. The aim of our study was to evaluate the performance of the automated analyser XE-2100 at counting nucleated red blood cells in the above-mentioned three categories of subjects with potentially altered red blood cell lysis sensitivity and yet a need for accurate nucleated red blood cell counts. Materials and methods We measured nucleated red blood cell count by XE-2100 in peripheral blood samples of 187 subjects comprising 55 patients with beta-thalassaemia (40 major and 15 traits), 26 sickle-cell patients, 56 neonates and 50 normal subject. Results were compared with those obtained by optical microscopy. Agreement between average values of the two methods was estimated by means of Pearson’s correlation and bias analysis, whereas diagnostic accuracy was estimated by analysis of receiver operating characteristic curves. Results The comparison between the two methods showed a Pearson’s correlation of 0.99 (95% CI; 0.98–0.99; p<0.001) and bias of −0.61 (95% CI, −1.5–0.3). The area under the curve of the nucleated red blood cell count in all samples was 0.98 (95% CI, 0.96–1.00; p<0.001). Sub-analysis revealed an area under curve of 0.99 (95% CI, 0.98–1.00; p<0.001) for patients with thalassaemia, 0.94 (95% CI, 0.85–1.00; p<0.001) for patients with sickle cell anaemia, and 1.00 (95% CI, 1.0–1.0) for neonates. Discussion XE-2100 has excellent performance for nucleated red blood cell counting, especially in critical populations such as patients with haemoglobinopathies and neonates. PMID:25761322

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

    PubMed

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

    2013-11-01

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

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

    PubMed Central

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

    2015-01-01

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

  7. Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall.

    PubMed

    Alauddin, Hafiza; Mohamad Nasir, Suziana; Ahadon, Madzlifah; Raja Sabudin, Raja Zahratul Azma; Ithnin, Azlin; Hussin, Noor Hamidah; Alias, Hamidah; Loh, C-Khai; Abdul Latiff, Zarina; Abdul Murad, Nor Azian; Othman, Ainoon

    2015-12-01

    Haemoglobin (Hb) Lepore is a variant Hb consisting of two α-globin and two δβ-globin chains. In a heterozygote, it is associated with clinical findings of thalassaemia minor, but interactions with other haemoglobinopathies can lead to various clinical phenotypes and pose diagnostic challenges. We reported a pair of siblings from a Malay family, who presented with pallor and hepatosplenomegaly at the ages of 21 months and 14 months old. The red cell indices and peripheral blood smears of both patients showed features of thalassaemia intermedia. Other laboratory investigations of the patients showed conflicting results. However, laboratory investigation results of the parents had led to a presumptive diagnosis of compound heterozygote Hb Lepore/β-thalassaemia and co-inheritance α+-thalassaemia (-α3.7). Hb Lepore has rarely been detected in Southeast Asian countries, particularly in Malaysia. These two cases highlight the importance of family studies for accurate diagnosis, hence appropriate clinical management and genetic counseling. PMID:26712677

  8. [The association between beta-adrenergic receptor gene polymorphisms and personality traits].

    PubMed

    Numajiri, Maki; Aoki, Jun; Nishizawa, Daisuke; Kasai, Shinya; Ogai, Yasukazu; Ikeda, Kazutaka; Iwahashi, Kazuhiko

    2012-08-01

    The relationship between the polymorphisms (SNPs) of the beta-adrenergic receptor (beta-AR) gene and personality assessed by TCI (Temperament and Character Inventory), was studied among 192 healthy Japanese subjects (121 male subjects and 71 female subjects). In this study, the statistical analyses were performed overall and separately for each sex. As a result, it was shown that there were significant relationships between SD (self-directedness) and 49Ser/Gly (rs1801252) in ADRB1, P (persistence) and 389Arg/Gly (rs1801253) in ADRB1, and ST (self-transcendence) and 27Gln/Glu (rs1042714) in ADRB2 overall. Among the male subjects, there were further significant relationships between ST and 49Ser/Gly in ADRB1, NS (novelty-seeking), HA (harm avoidance) and P and 389Arg/Gly in ADRB1, and P and 64Arg/Trp(rsrs4994) in ADRB3. Among the female subjects, there were also significant relationships between SD and 49Ser/Gly in ADRB1, and C (cooperativeness) and 389Arg/Gly in ADRB1. Thus it was shown that there were correlations between beta-AR gene polymorphisms and several subscales of TCI. PMID:23012891

  9. Molecular Characterization of α- and β-Thalassaemia among Malay Patients

    PubMed Central

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

    2014-01-01

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

  10. A thalassaemia intermedia case with concomitant left atrial thrombus

    PubMed Central

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

    2014-01-01

    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

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

    PubMed

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

    2016-03-01

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

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

    NASA Astrophysics Data System (ADS)

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

    2009-01-01

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

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

    PubMed

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

    2015-06-01

    Pulmonary hypertension (PH) commonly develops in thalassaemia syndromes, but is poorly characterized. The goal of this study was to provide a comprehensive description of the cardiopulmonary and biological profile of patients with thalassaemia at risk for PH. A case-control study of thalassaemia patients at high versus low PH-risk was performed. A single cross-sectional measurement for variables reflecting cardiopulmonary status and biological pathophysiology were obtained, including Doppler-echocardiography, 6-min-walk-test, Borg Dyspnoea Score, New York Heart Association functional class, cardiac magnetic resonance imaging (MRI), chest-computerized tomography, pulmonary function testing and laboratory analyses targeting mechanisms of coagulation, inflammation, haemolysis, adhesion and the arginine-nitric oxide pathway. Twenty-seven thalassaemia patients were evaluated, 14 with an elevated tricuspid-regurgitant-jet-velocity (TRV) ≥ 2·5 m/s. Patients with increased TRV had a higher frequency of splenectomy, and significantly larger right atrial size, left atrial volume and left septal-wall thickness on echocardiography and/or MRI, with elevated biomarkers of abnormal coagulation, lactate dehydrogenase (LDH) levels and arginase concentration, and lower arginine-bioavailability compared to low-risk patients. Arginase concentration correlated significantly to several echocardiography/MRI parameters of cardiovascular function in addition to global-arginine-bioavailability and biomarkers of haemolytic rate, including LDH, haemoglobin and bilirubin. Thalassaemia patients with a TRV ≥ 2·5 m/s have additional echocardiography and cardiac-MRI parameters suggestive of right and left-sided cardiac dysfunction. In addition, low arginine bioavailability may contribute to cardiopulmonary dysfunction in β-thalassaemia. PMID:25907665

  14. Dysregulated Arginine Metabolism and Cardiopulmonary Dysfunction in Patients with Thalassaemia

    PubMed Central

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

    2015-01-01

    Pulmonary hypertension (PH) commonly develops in thalassaemia syndromes, but is poorly characterized. The goal of this study was to provide a comprehensive description of the cardiopulmonary and biological profile of patients with thalassaemia at risk for PH. A case-control study of thalassaemia patients at high versus low PH-risk was performed. A single cross-sectional measurement for variables reflecting cardiopulmonary status and biological pathophysiology were obtained, including Doppler-echocardiography, 6-minute-walk-test, Borg Dyspnea Score, New York Heart Association functional class, cardiac magnetic resonance imaging (MRI), chest-computerized tomography, pulmonary function testing and laboratory analyses targeting mechanism of coagulation, inflammation, haemolysis, adhesion and the arginine-nitric oxide pathway. Twenty-seven thalassaemia patients were evaluated, 14 with an elevated tricuspid-regurgitant-jet-velocity (TRV) ≥2.5m/s. Patients with increased TRV had a higher frequency of splenectomy, and significantly larger right atrial size, left atrial volume and left septal-wall thickness on echocardiography and/or MRI, with elevated biomarkers of abnormal coagulation, lactate dehydrogenase levels and arginase concentration, and lower arginine-bioavailability compared to low-risk patients. Arginase concentration correlated significantly to several echocardiography/MRI parameters of cardiovascular function in addition to global-arginine-bioavailability and biomarkers of haemolytic rate, including lactate dehydrogenase, haemoglobin and bilirubin. Thalassaemia patients with a TRV ≥2.5m/s have additional echocardiography and cardiac-MRI parameters suggestive of right and left-sided cardiac dysfunction. In addition, low arginine bioavailability may contribute to cardiopulmonary dysfunction in β-thalassaemia. PMID:25907665

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

    PubMed

    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

    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

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

    PubMed

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

    2009-10-01

    Alpha-thalassaemia is a very rare disease in Northern Europe in contrast to hereditary spherocytosis that is associated with red blood cell membrane defects. We report here alpha-thalassaemia case who was also found to bear the erythrocyte membrane protein 4.2 gene mutations. mRNA relative quantification of red cell membrane protein genes in a Polish patient with alpha-thalassaemia trait indicated EPB42 as the gene that could also be involved in anaemia pathogenesis. Sequencing revealed the presence of two novel mutations in the protein 4.2 gene: a G1701A genetic change that predicts an alanine to threonine at position 567 of the protein (A567T) and a T-->A substitution that is located at position +6 of the donor splice site of intron 2 (IVS2nt+6T>A). This is the sixth variant of the erythrocyte membrane protein 4.2 gene mutations identified outside the Japanese population. PMID:19508687

  17. Prevalence of α-thalassaemia genotypes in pregnant women in northern Thailand

    PubMed Central

    Pharephan, Somphon; Sirivatanapa, Pannee; Makonkawkeyoon, Sanit; Tuntiwechapikul, Wirote; Makonkawkeyoon, Luksana

    2016-01-01

    Background & objectives: Alpha-thalassaemias are genetic disorders with high prevalence in northern Thailand. However, common genotypes and current data on the prevalence of α-thalassaemias have not been reported in this region. Therefore, the objective of the present study was to determine the prevalence of α-thalassaemia genotypes in pregnant women in northern Thailand. Methods: Genomic DNA was extracted from blood samples of pregnant women who came to Maharaj Nakorn Chiang Mai University Hospital during July 2009 to 2010. The common deletion and point mutation genotypes of α-thalassaemia were evaluated by gap- polymerase chain reaction (PCR) and PCR with restriction fragment length polymorphism (RFLP). Results: Genotypes of 638 pregnant women were: 409 samples (64.11%) being normal subjects (αα/αα) and 229 samples (35.89%) with α-thalassaemias. These 229 samples could be classified into deletional HbH disease (--SEA/-α3.7) for 18 samples (2.82%); heterozygous α0-thalassaemia --SEA type (--SEA/αα)) for 78 (12.23%); heterozygous α+-thalassaemia - α3.7 type (-α3.7/αα) for 99 (15.52%); homozygous α+-thalassaemia - α3.7 type (-α3.7/- α3.7) for five (0.78%); heterozygous α+-thalassaemia - α4.2 type (-α4.2/αα) for two (0.31%); and heterozygous HbCS (αCSα/αα) for 27 (4.23%) cases. Interpretation & conclusions: The prevalence of α-thalassaemias in pregnant women in northern Thailand was high. This finding supports the implementation of the prevention and control of this common genetic disorder by screening for α-thalassaemia genotypes. PMID:27241645

  18. Comparative genomics approaches within Beta vulgaris to reveal loci relevant to root development and secondary metabolite storage traits

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Development and patterning of Beta vulgaris root tissues is key to obtaining a good crop. This study aims to undertake a comparative systems biology approach for the study of root development, physiology, and storage characteristics within two B. vulgaris crop types, sugar beet and red beet. Generat...

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

    PubMed Central

    Lazarte, Sandra Stella; Mónaco, María Eugenia; Jimenez, Cecilia Laura; Ledesma Achem, Miryam Emilse; Terán, Magdalena María; Issé, Blanca Alicia

    2015-01-01

    Most common microcytic hypochromic anemias are iron deficiency anemia (IDA) and β-thalassemia trait (BTT), in which oxidative stress (OxS) has an essential role. Catalase causes detoxification of H2O2 in cells, and it is an indispensable antioxidant enzyme. The study was designed to measure erythrocyte catalase activity (ECAT) in patients with IDA (10) or BTT (21), to relate it with thalassemia mutation type (β0 or β+) and to compare it with normal subjects (67). Ninety-eight individuals were analyzed since September 2013 to June 2014 in Tucumán, Argentina. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2, catalase, and iron status were performed. β-thalassemic mutations were determined by real-time PCR. Normal range for ECAT was 70,0–130,0 MU/L. ECAT was increased in 14% (3/21) of BTT subjects and decreased in 40% (4/10) of those with IDA. No significant difference (p = 0,245) was shown between normal and BTT groups, while between IDA and normal groups the difference was proved to be significant (p = 0,000). In β0 and β+ groups, no significant difference (p = 0,359) was observed. An altered ECAT was detected in IDA and BTT. These results will help to clarify how the catalase activity works in these anemia types. PMID:26527217

  20. Oxidative stress in β-thalassaemia and sickle cell disease.

    PubMed

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

    2015-12-01

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

  1. Oxidative stress in β-thalassaemia and sickle cell disease

    PubMed Central

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

    2015-01-01

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

  2. Spinal epidural extramedullary haematopoiesis in β-thalassaemia intermedia

    PubMed Central

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

    2014-01-01

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

  3. Benign Obstetric History in Women with Sickle-cell Anaemia Associated with α-Thalassaemia

    PubMed Central

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

    1972-01-01

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

  4. Epidemiology of Transfusion Transmitted Infection among Patients with β-Thalassaemia Major in Pakistan.

    PubMed

    Ahmed Kiani, Rizwan; Anwar, Muhammad; Waheed, Usman; Asad, Muhammad Javaid; Abbasi, Saleem; Abbas Zaheer, Hasan

    2016-01-01

    Introduction. Transfusion Transmitted Infections (TTIs) continue to be a major risk in transfusions in many parts of the world. The transfusion-dependent β-thalassaemia patients are particularly at risk of acquiring TTIs. The current study was undertaken to estimate the prevalence of TTIs in transfusion-dependent β-thalassaemia patients. Material and Methods. A cross-sectional study of 1253 multitransfused thalassaemia major patients was conducted in five different centres of Islamabad, Rawalpindi, and Karachi. The study subjects were screened for HIV, HCV, and HBV. The screening was performed at two centres: Department of Pathology, Shaheed Zulfiqar Ali Bhutto (SZAB) Medical University, and Blood Transfusion Services, Jinnah Postgraduate Medical Centre, from July to December 2015. The confirmatory screening was performed by Chemiluminescent Immunoassay (CLIA). Results. Out of the 1253 multiple transfused patients, 317 (25.3%) were infected with TTIs. HCV was positive in 273 cases (21.7%), HBV in 38 cases (3.0%), and HIV in 6 cases (0.5%). Conclusion. HCV was the leading TTI in multitransfused thalassaemia major patients in the study. Presence of HIV in thalassaemia patients is a recent disturbing development in Pakistan. Improved regulation of blood banks including use of internationally or nationally evaluated kits will bring down the incidence of TTIs in transfusion-dependent β-thalassaemia patients. More stringent behavioral and serological pretransfusion screening of blood for TTIs must be implemented in blood banks. PMID:27559490

  5. A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka.

    PubMed

    Black, M L; Sinha, S; Agarwal, S; Colah, R; Das, R; Bellgard, M; Bittles, A H

    2010-09-01

    Thalassaemia is a common and debilitating autosomal recessive disorder affecting many populations in South Asia. To date, efforts to create a regional profile of β-thalassaemia mutations have largely concentrated on the populations of India. The present study updates and expands an earlier profile of β-thalassaemia mutations in India, and incorporates comparable data from Pakistan and Sri Lanka. Despite limited data availability, clear patterns of historical and cultural population movements were observed relating to major β-thalassaemia mutations. The current regional mutation profiles of β-thalassaemia have been influenced by historical migrations into and from the Indian sub-continent, by the development and effects of Hindu, Buddhist, Muslim and Sikh religious traditions, and by the major mid-twentieth century population translocations that followed the Partition of India in 1947. Given the resultant genetic complexity revealed by the populations of India, Pakistan and Sri Lanka, to ensure optimum diagnostic efficiency and the delivery of appropriate care, it is important that screening and counselling programmes for β-thalassaemia mutations recognise the underlying patterns of population sub-division throughout the region. PMID:22460247

  6. Epidemiology of Transfusion Transmitted Infection among Patients with β-Thalassaemia Major in Pakistan

    PubMed Central

    Ahmed Kiani, Rizwan; Anwar, Muhammad; Asad, Muhammad Javaid; Abbasi, Saleem; Abbas Zaheer, Hasan

    2016-01-01

    Introduction. Transfusion Transmitted Infections (TTIs) continue to be a major risk in transfusions in many parts of the world. The transfusion-dependent β-thalassaemia patients are particularly at risk of acquiring TTIs. The current study was undertaken to estimate the prevalence of TTIs in transfusion-dependent β-thalassaemia patients. Material and Methods. A cross-sectional study of 1253 multitransfused thalassaemia major patients was conducted in five different centres of Islamabad, Rawalpindi, and Karachi. The study subjects were screened for HIV, HCV, and HBV. The screening was performed at two centres: Department of Pathology, Shaheed Zulfiqar Ali Bhutto (SZAB) Medical University, and Blood Transfusion Services, Jinnah Postgraduate Medical Centre, from July to December 2015. The confirmatory screening was performed by Chemiluminescent Immunoassay (CLIA). Results. Out of the 1253 multiple transfused patients, 317 (25.3%) were infected with TTIs. HCV was positive in 273 cases (21.7%), HBV in 38 cases (3.0%), and HIV in 6 cases (0.5%). Conclusion. HCV was the leading TTI in multitransfused thalassaemia major patients in the study. Presence of HIV in thalassaemia patients is a recent disturbing development in Pakistan. Improved regulation of blood banks including use of internationally or nationally evaluated kits will bring down the incidence of TTIs in transfusion-dependent β-thalassaemia patients. More stringent behavioral and serological pretransfusion screening of blood for TTIs must be implemented in blood banks. PMID:27559490

  7. Increased leucocyte apoptosis in transfused β-thalassaemia patients.

    PubMed

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

    2013-02-01

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

  8. The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease.

    PubMed

    Vasavda, Nisha; Menzel, Stephan; Kondaveeti, Sheila; Maytham, Emma; Awogbade, Moji; Bannister, Sybil; Cunningham, Juliette; Eichholz, Andrew; Daniel, Yvonne; Okpala, Iheanyi; Fulford, Tony; Thein, Swee Lay

    2007-07-01

    Serum bilirubin levels and predisposition to gallstones in sickle cell disease (SCD) are influenced by genetic variation in the hepatic uridine diphosphate (UDP)-glucuronosyltransferase (UGT1A1) gene, but the association is not consistent. This study investigated whether variation in the gene encoding haem oxygenase (HMOX1), a rate-limiting enzyme upstream of UGT1A in the haem catabolic pathway, and alpha-thalassaemia could explain some of the inconsistent effects. The UGT1A1 [TA](n) and HMOX1 [GT](n) promoter polymorphisms and alpha globin genotypes were determined in 263 SCD patients (199 HbSS, 5 HbS/beta(0), 59 HbSC). Detection of gallstones was based on ultrasound of the liver/biliary tree. Regression analysis showed that serum bilirubin levels and the incidence of gallstones were strongly associated with the number of UGT1A1 [TA] repeats in all subjects (P < 0.0001 and P < 0.01, respectively). While HMOX1 genotype had no effect, co-inheritance of alpha-thalassaemia reduced serum bilirubin levels in all SCD patients independently of the number of UGT1A1 [TA] repeats. Each additional [TA] repeat is associated with an increase in mean serum bilirubin levels of 21% and cholelithiasis risk of 87% in SCD. PMID:17593033

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

    PubMed Central

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

    2007-01-01

    Summary Blood transfusion therapy is life-saving for patients with β-thalassaemia and sickle cell disease (SCD), but often results in severe iron overload. This pilot study examined whether the biomarkers of tissue injury or inflammation differ in these two diseases. Plasma malondialdehyde (MDA) was significantly increased 1.8-fold in thalassaemia relative to control patients. In contrast, MDA in SCD was not significantly different from controls. In multivariate analysis, the strongest predictors of elevated MDA were liver iron concentration (P < 0.001) and specific diagnosis (P = 0.019). A significant 2-fold elevation of non-transferrin bound iron (NTBI) was observed in thalassaemia relative to SCD. NTBI was not a significant predictor of high MDA in multivariate analysis. SCD patients showed a significant 2.2-fold elevation of the inflammatory marker interleukin (IL)-6 relative to controls, and a 3.6- and 1.7-fold increase in IL-5 and IL-10 relative to thalassaemia. Although α-tocopherol was significantly decreased by at least 32% in both thalassaemia and SCD, indicating ongoing oxidant stress and antioxidant consumption, γ-tocopherol, a nitric oxide-selective antioxidant, was increased 36% in SCD relative to thalassaemia. These results demonstrate that thalassaemia patients have increased MDA and circulating NTBI relative to SCD patients and lower levels of some cytokines and γ-tocopherol. This supports the hypothesis that the biology of SCD may show increased inflammation and increased levels of protective antioxidants compared with thalassaemia. PMID:17010049

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

    PubMed

    Sui, Suli; Sleeboom-Faulkner, Margaret

    2010-02-01

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

  11. Non-Invasive Haemoglobin Estimation in Patients with Thalassaemia Major

    PubMed Central

    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

    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

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

    PubMed Central

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

    2015-01-01

    Objectives This study aimed to detect α- and β-thalassaemia mutations in the Jino ethnic minority population of Yunnan Province, Southwest China. Design A total of 1613 Jino adults were continuously recruited from February 2012 to April 2012. Fasting venous blood samples were obtained to determine haematological variables. Haemoglobin analysis was conducted using high-performance liquid chromatography. Participants with hypochromic microcytic anaemia or positive haemoglobin analysis profiles were confirmed by α- and β-globin genetic testing, including DNA microarray analysis, direct sequencing methods and multiplex gap-PCR assays. Setting Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital. Results We found 363 suspected cases by primary screening of haematological variables and haemoglobin analysis. After further genetic testing, four types of α- and β-thalassaemia mutation were detected in 203 out of 363 individuals. Both α0- and α+-thalassaemia mutations, --SEA and -α3.7, were identified. β-Thalassaemia mutations included CD17 (HBB:c.52A>T) and CD26 (HbE or HBB:c.79G>A). In addition, 13 HbE carriers had coexisting α0- or α+-thalassaemia deletions. Clinical haematological variables indicated that, in this study, carriers of all thalassaemic genotypes had more severe hypochromic microcytic anaemia than non-thalassaemic individuals. Conclusions Our results provide information on the Jino ethnic minority that may be useful for further genetic counselling, prenatal screening and clinical diagnosis of thalassaemia in this region. PMID:26715484

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

    PubMed

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

    2016-01-01

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

  14. Red blood cell complement receptor one level varies with Knops blood group, α+thalassaemia and age among Kenyan children

    PubMed Central

    Opi, D H; Uyoga, S; Orori, E N; Williams, T N; Rowe, J A

    2016-01-01

    Both the invasion of red blood cells (RBCs) by Plasmodium falciparum parasites and the sequestration of parasite-infected RBCs in the microvasculature are mediated in part by complement receptor one (CR1). RBC surface CR1 level can vary between individuals by more than 20-fold and may be associated with the risk of severe malaria. The factors that influence RBC CR1 level variation are poorly understood, particularly in African populations. We studied 3535 child residents of a malaria-endemic region of coastal Kenya and report, for the first time, that the CR1 Knops blood group alleles Sl2 and McCb, and homozygous HbSS are positively associated with RBC CR1 level. Sickle cell trait and ABO blood group did not influence RBC CR1 level. We also confirm the previous observation that α+thalassaemia is associated with reduced RBC CR1 level, possibly due to small RBC volume, and that age-related changes in RBC CR1 expression occur throughout childhood. RBC CR1 level in malaria-endemic African populations is a complex phenotype influenced by multiple factors that should be taken into account in the design and interpretation of future studies on CR1 and malaria susceptibility. PMID:26844958

  15. The Relationship of Metabolic Syndrome Traits with Beta-Cell Function and Insulin Sensitivity by Oral Minimal Model Assessment in South Asian and European Families Residing in the Netherlands

    PubMed Central

    Jainandunsing, Sjaam; de Rooij, Felix W. M.

    2016-01-01

    Background. There are different metabolic syndrome traits among patients with different ethnicities. Methods. We investigated this by studying 44 South Asians and 54 Europeans and classified them in three groups according to the occurrence of metabolic syndrome (MetS) and Type 2 Diabetes (T2D). Insulin sensitivity index (ISI), static, dynamic, and total beta-cell responsivity indices (Φ), and disposition indices (DIs) were calculated with the use of oral minimal model (OMM). Results. In both ethnicities, ISI was lower in the subgroup with MetS and T2D as compared to the subgroup without MetS nor T2D (P < 0.004). South Asians without MetS were more insulin resistant than Europeans without MetS (P = 0.033). In the South Asians, ISI, dynamic DI, and static DI were associated significantly (P < 0.006) with high-density lipoprotein cholesterol and triglycerides. In the Europeans, ISI was associated with waist-to-hip ratio (P = 0.005) and systolic and diastolic blood pressure (P < 0.005), while static DI was related to the systolic blood pressure (P = 0.005). Conclusions. MetS was linked with insulin resistance and reduced capacity to handle glucose regardless of ethnicity. ISI and DIs were associated with lipid traits in South Asians and with blood pressure in Europeans suggesting that insulin resistance enhances different metabolic syndrome traits among different ethnicities. PMID:27597980

  16. The Relationship of Metabolic Syndrome Traits with Beta-Cell Function and Insulin Sensitivity by Oral Minimal Model Assessment in South Asian and European Families Residing in the Netherlands.

    PubMed

    Geragotou, Thekla; Jainandunsing, Sjaam; Özcan, Behiye; de Rooij, Felix W M; Kokkinos, Alexander; Tentolouris, Nicholas; Sijbrands, Eric J G

    2016-01-01

    Background. There are different metabolic syndrome traits among patients with different ethnicities. Methods. We investigated this by studying 44 South Asians and 54 Europeans and classified them in three groups according to the occurrence of metabolic syndrome (MetS) and Type 2 Diabetes (T2D). Insulin sensitivity index (ISI), static, dynamic, and total beta-cell responsivity indices (Φ), and disposition indices (DIs) were calculated with the use of oral minimal model (OMM). Results. In both ethnicities, ISI was lower in the subgroup with MetS and T2D as compared to the subgroup without MetS nor T2D (P < 0.004). South Asians without MetS were more insulin resistant than Europeans without MetS (P = 0.033). In the South Asians, ISI, dynamic DI, and static DI were associated significantly (P < 0.006) with high-density lipoprotein cholesterol and triglycerides. In the Europeans, ISI was associated with waist-to-hip ratio (P = 0.005) and systolic and diastolic blood pressure (P < 0.005), while static DI was related to the systolic blood pressure (P = 0.005). Conclusions. MetS was linked with insulin resistance and reduced capacity to handle glucose regardless of ethnicity. ISI and DIs were associated with lipid traits in South Asians and with blood pressure in Europeans suggesting that insulin resistance enhances different metabolic syndrome traits among different ethnicities. PMID:27597980

  17. Prenatal diagnosis of alpha thalassaemia major following cordocentesis--a case report.

    PubMed

    Raman, S; Kuppuvelumani, P; Menaka, H

    1991-03-01

    The relevant investigations and management of a case of alpha-thalassaemia major suspected antenatally is discussed. The value of ultrasonically guided cordocentesis in the definite diagnosis of this condition is emphasised in the management of this pregnancy. We believe that this is the first time such a procedure has been done in this country. PMID:1836033

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

    PubMed Central

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

    2015-01-01

    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 β-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

  19. The multifactorial origin of growth failure in thalassaemia.

    PubMed

    Skordis, Nicos; Kyriakou, Andreas

    2011-03-01

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

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

    PubMed Central

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

    2015-01-01

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

  1. Polymorphism of the pig 17beta-hydroxysteroid dehydrogenase type1 (HSD17B1) gene and its association with reproductive traits.

    PubMed

    Liu, L Q; Li, F E; Deng, C Y; Zuo, B; Zheng, R; Xiong, Y Z

    2009-08-01

    17beta-Hydroxysteroid dehydrogenase type 1 (HSD17B1) is a key enzyme of 17beta-estradiol biosynthesis, which might play an important role in follicular development of the ovary. In this study, we isolated the complete coding sequence of porcine HSD17B1 gene and its unique intron sequences of porcine HSD17B1 gene, identified a single nucleotide polymorphism (SNP: A/C) in intron 4, and developed a PCR-MvaI-RFLP genotyping assay. Association of the SNP and litter size was assessed in two populations (purebred Large White and a experimental synthetic Line (DIV) sows). Statistical analysis demonstrated that, in the first parity, AC animals in experimental synthetic Line (DIV) sows had 0.52 more piglets born compared to the CC animals (P<0.05). In the all parities, pigs with the AA genotype had an additional 1.11 and 0.96 piglets born alive compared to the CC animals (P<0.05) in both experimental synthetic Line (DIV) and purebred Large White, respectively. Experimental synthetic Line (DIV) sows inheriting the AC genotype had additional 0.84 piglets born alive compared to the CC animals (P<0.01) in all parities. In addition, significant additive effect of -0.55+/-0.24 piglets/litter and -0.48+/-0.22 piglets/litter on piglet born alive was detected in both experimental synthetic Line (DIV) sows and purebred Large White lines (P<0.05), respectively. Therefore, HSD17B1 gene was significantly associated with litter size in two populations and could be a useful molecular marker in selection for increasing litter size in pigs. PMID:18945563

  2. Association of BCL11A genetic variant (rs11886868) with severity in β-thalassaemia major & sickle cell anaemia

    PubMed Central

    Dadheech, Sneha; Madhulatha, D.; Jain, Suman; Joseph, James; Jyothy, A.; Munshi, Anjana

    2016-01-01

    Background & objectives: The amount of foetal haemoglobin that persists in adulthood affects the clinical severity of haemoglobinopathies including β-thalassaemia major and sickle cell anaemia (SCA). The present study was undertaken to analyse β-thalassaemia as well as SCA patients for the single nucleotide polymorphism (SNP), rs11886868 (T/C) in BCL11A gene and to evaluate the association between this polymorphism and severity of β-thalassaemia major and SCA. Methods: A total of 620 samples (420 β-thalassaemia major and 200 SCA cases) were analysed before blood transfusion using basic screening tests like complete blood analysis and osmotic fragility and further confirmed by high performance liquid chromatography (HPLC), amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and reverse dot blot techniques. All patients were transfusion dependent. Patients with β-thalassaemia and SCA were classified into mild, moderate, severe according to the severity score based on Hb levels, age of onset, age at which patients received their first blood transfusion, the degree of growth retardation and splenectomy. β-thalassaemia as well as SCA patients were analysed for the SNP, rs11886868 (T/C) in BCL11A gene and association between this polymorphism and severity of β-thalassaemia major as well as SCA was evaluated. Results: There was a significant difference in genotypic and allelic frequencies of BCL11A gene polymorphism between mild and moderate and mild and severe cases in both the groups. A significant (P<0.001) difference was observed in the mean HbF levels between the three genotypes in different severity groups. HbF levels were found to be high in CC genotype bearing individuals followed by TC and TT in β-thalassaemia major as well as SCA. Interpretation & conclusions: This study confirms that the T/C variant (rs11886868) of the BCL11A gene causing downregulation of BCL11A gene expression in adult erythroid precursors results in the

  3. Evaluation of carotid artery dynamics & correlation with cardiac & hepatic iron in β-thalassaemia patients

    PubMed Central

    Merchant, Rashid H.; Chate, Someshwar; Ahmed, Javed; Ahmad, Noor; Karnik, Alka; Jankaria, Bhavin

    2016-01-01

    Background & objectives: Early atherosclerosis and vascular complication have been described in thalassaemia patients. There is lack of data or guidelines regarding monitoring of vascular health in thalassaemia. This study was conducted to compare carotid artery structural and functional indices such as carotid artery intima-media thickness (CIMT), stiffness index (SI) and Young's elastic modulus (YEM) in β-thalassemia patients with age and sex matched controls, and to correlate these parameters with serum ferritin, cardiac iron, and hepatic iron. Methods: This cross-sectional study included 53 β-thalassaemia patients receiving regular blood transfusions. Carotid artery indices such as CIMT, SI, and YEM were calculated by duplex ultrasound and colour Doppler. Serum ferritin levels were measured by chemiluminescence. Cardiac and hepatic iron estimation were done using MRI T2* sequences analyzed by a special thalassaemia software. Results: Mean CIMT of cases and controls were 0.48 ± 0.04 and 0.44±0.02 mm, respectively and these were significantly different (P<0.001). Similarly significant differences were noted in SI and YEM of cases (2.45±0.79 and 96.12±34.85, respectively) as compared to controls (1.98±0.54 and 68.60±24.29, respectively) (P<0.001). There was significant inverse correlation between stiffness index and cardiac iron overload assessed by MRI cardiac T2* (P=0.03). Mean SI and YEM of cases were (2.1736 ± 0.2986 and 107.3± 41.6, respectively) significantly higher among non-splenectomized patients compared to splenectomized patients (2.0136 ± 0.263 and 86.9 ± 25.2, respectively) (P<0.05). Interpretation & conclusions: CIMT and arterial stiffness indices were significantly increased in β-thalassaemia patients compared to controls which was indicative of early atherogenic changes. This study supports the hypothesis that iron overload is a risk factor for early atherosclerosis and cardiovascular disease. PMID:27377500

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

    PubMed

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

    2013-12-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-01-01

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

  7. Core structures of haemosiderins deposited in various organs in β-thalassaemia/haemoglobin e disease

    NASA Astrophysics Data System (ADS)

    St. Pierre, T. G.; Tran, K. C.; Webb, J.; Macey, D. J.; Pootrakul, P.; Dickson, D. P. E.

    1992-04-01

    Mössbauer spectra were recorded of tissue from β-thalassaemia/haemoglobin E spleen, liver, pancreas and heart and of crude haemosiderins (insoluble iron fractions) isolated from the organs. Iron in the crude haemosiderins from the spleen and heart remains paramagnetic below 4.2K indicating that the iron is in a non-crystalline form. Superparamagnetic behaviour of the crude haemosiderins from the pancreas and liver indicate the presence of ferrihydrite cores with some cores with a structure based on defect-goethite.

  8. Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations.

    PubMed

    Chassanidis, Christos; Boutou, Effrossyni; Voskaridou, Ersi; Balassopoulou, Angeliki

    2016-01-01

    Beta-thalassaemia is one of the most common autosomal recessive disorders worldwide. The disease's high incidence, which is observed in the broader Mediterranean area has led to the establishment of molecular diagnostics' assays to prevent affected births. Therefore, the development of a reliable, cost-effective and rapid scanning method for β globin gene point mutations, easily adapted to a routine laboratory, is absolutely essential. Here, we describe, for the first time, the development of a High-Resolution Melting Analysis (HRMA) approach, suitable for scanning the particularly heterogeneous beta globin gene mutations present in the Greek population, and thus adaptable to the Mediterranean and other areas where these mutations have been identified. Within this context, β globin gene regions containing mutations frequently identified in the Greek population were divided in ten overlapping amplicons. Our reactions' setup allowed for the simultaneous amplification of multiple primer sets and partial multiplexing, thereby resulting in significant reduction of the experimental time. DNA samples from β-thalassaemia patients/carriers with defined genotypes were tested. Distinct genotypes displayed distinguishable melting curves, enabling accurate detection of mutations. The described HRMA can be adapted to a high-throughput level. It represents a rapid, simple, cost-effective, reliable, highly feasible and sensitive method for β-thalassaemia gene scanning. PMID:27351925

  9. Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations

    PubMed Central

    Chassanidis, Christos; Boutou, Effrossyni; Voskaridou, Ersi; Balassopoulou, Angeliki

    2016-01-01

    Beta-thalassaemia is one of the most common autosomal recessive disorders worldwide. The disease’s high incidence, which is observed in the broader Mediterranean area has led to the establishment of molecular diagnostics’ assays to prevent affected births. Therefore, the development of a reliable, cost-effective and rapid scanning method for β globin gene point mutations, easily adapted to a routine laboratory, is absolutely essential. Here, we describe, for the first time, the development of a High-Resolution Melting Analysis (HRMA) approach, suitable for scanning the particularly heterogeneous beta globin gene mutations present in the Greek population, and thus adaptable to the Mediterranean and other areas where these mutations have been identified. Within this context, β globin gene regions containing mutations frequently identified in the Greek population were divided in ten overlapping amplicons. Our reactions’ setup allowed for the simultaneous amplification of multiple primer sets and partial multiplexing, thereby resulting in significant reduction of the experimental time. DNA samples from β-thalassaemia patients/carriers with defined genotypes were tested. Distinct genotypes displayed distinguishable melting curves, enabling accurate detection of mutations. The described HRMA can be adapted to a high-throughput level. It represents a rapid, simple, cost-effective, reliable, highly feasible and sensitive method for β-thalassaemia gene scanning. PMID:27351925

  10. C3 polymorphism in beta-thalassemia.

    PubMed

    Germenis, A; Kalantzi, M; Karamerou, A; Politi, C; Fertakis, A

    1984-01-01

    The distribution of phenotypes and gene frequencies of the third component of complement (C3) were studied in 106 beta-thalassemic patients and in 112 carriers of the beta-thalassemia trait. A statistically significant association was found between the C3F gene and homozygous beta-thalassemia. It can be suggested that this association may be related with the high incidence of infections encountered in these patients. PMID:6419525

  11. Bone disease in adult patients with β-thalassaemia major: a case-control study.

    PubMed

    Baldini, Marina; Forti, Stella; Orsatti, Alessandra; Ulivieri, Fabio Massimo; Airaghi, Lorena; Zanaboni, Laura; Cappellini, Maria Domenica

    2014-02-01

    Despite the extraordinary improvements carried out in diagnostic and therapeutic management of thalassaemia major over the past few decades, bone demineralization is still a common finding, even in optimally treated patients. The relationships between bone density and several clinical characteristics or hematological markers have been described, and many factors contributing to demineralization have been identified; among them endocrine complications seem to play an important role. Nevertheless, the complex etiological mechanisms of this heterogeneous osteopathy still remains incompletely clarified. While previous studies focused on the characteristics of thalassaemic patients affected from bone demineralization, we conducted a case-control study focused on thalassaemic patients free from bone disease, aimed to detect the distinctive characteristics and any possible protective feature. Among a large cohort of 150 adult patients with β-thalassaemia major, we enrolled 20 patients with normal bone mineralization and 20 patients with osteoporosis matched for gender, BMI, age at first transfusion, serum ferritin and pre-transfusional hemoglobin (Hb) levels. The differences in demographic, clinical and endocrinological profiles were investigated, correcting for physical and hematological features known as confounding variables. The comparison of the two groups for biochemical parameters and endocrine function showed a protective role of normal gonadic function and IGF-1 levels against osteoporosis, and a similar influence of hypoparathyroidism. Treatment-corrected hypothyroidism and diabetes seemed not to affect bone mineralization. In conclusion, from a different perspective our results corroborate the role of endocrinopathies in thalassaemic osteopathy, and once again underline the crucial importance of an early and multi-disciplinary intervention in preventing bone complications in thalassaemic patients. PMID:22179745

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

    PubMed

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

    2013-04-01

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

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

    PubMed

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

    2010-12-01

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

  14. Beta experiment

    NASA Technical Reports Server (NTRS)

    1982-01-01

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

  15. Evaluation of Serum Leptin Levels and Growth in Patients with β-Thalassaemia Major

    PubMed Central

    Al-Naama, Lamia Mustafa; Hassan, Meaad Kadum; Abdul Karim, Muhannad Maki

    2016-01-01

    Background. Iron deposition in the body can damage the endocrine glands of patients with β-thalassaemia major (β-TM). Leptin plays a key role in the regulation of appetite, body fat mass, and endocrine function. Objectives. This study aimed to evaluate the relationship between serum leptin and growth and pubertal development in patients with β-TM, as well as whether serum leptin can predict growth retardation and delayed puberty in these patients. Methods. Fifty β-TM patients (aged 8–20 years) and 75 age-matched healthy controls were recruited. Anthropometric data and sexual maturity ratings were assessed. Serum leptin was measured by ELISA. Results. Serum leptin levels were significantly lower in patients with β-TM than in healthy individuals (P < 0.001). Leptin levels were also significantly reduced in female patients with short stature (P < 0.002) and in patients who displayed delayed puberty (P = 0.032) compared to those with normal stature who had reached puberty. The sensitivity of leptin for predicting short stature and delayed puberty among patients was 84.6% and 92.3%, respectively. Conclusion. Low serum leptin is sensitive to predict short stature and significant in β-TM females only. This link could thus be used as a guide for further therapeutic or hormonal modulation. PMID:27088012

  16. Development and Validation of a Multidimensional Expectation Questionnaire for Thalassaemia Major Patients

    PubMed Central

    Koutelekos, Ioannis G.; Kyritsi, Helen; Makis, Alexandros; Vassalos, Constantine M; Ktenas, Eftychios; Polikandrioti, Maria; Tzoumaka-Bakoula, Chryssa; Chaliasos, Nikolaos

    2016-01-01

    Nowadays, thalassaemia major (TM) patients are surviving into mature young adulthood; however, no published instrument exists to measure the expectations’ dimensionality among older TM patients in their thirties. This study seeks to validate a novel multidimensional expectation questionnaire suitable for TM patients (MEQ-TMP) reaching their fourth decade of life. In order to establish the psychometric properties of the instrument, data analysis was carried out. The principal component analysis revealed four components (‘Supportive social network’; ‘Raising one’s own family’; ‘Career advancement’; ‘Ability of daily activities’). Their cumulative contribution rate was 66.32%. Cronbach’s alpha for the total scale was 0.87. Each subscale had an alpha value above 0.70; three subscales were in the 0.80 range. MEQ-TMP reliability was proved to be good. The known-group method served as a strategy in examining the operationalisation of the questionnaire’s constructs. The present MEQ-TMP, developed for the aged group of TM patients, would be a useful tool for clinical personnel providing care to TM patients in understanding their outlook on life as they are growing up, to have better psychosocial adjustment to illness chronicity, live life as normally as possible, and fulfill their ambitions; thus enhancing their life satisfaction and quality of life. PMID:26383219

  17. Development and Validation of a Multidimensional Expectation Questionnaire for Thalassaemia Major Patients.

    PubMed

    Koutelekos, Ioannis G; Kyritsi, Helen; Makis, Alexandros; Vassalos, Constantine M; Ktenas, Eftychios; Polikandrioti, Maria; Tzoumaka-Bakoula, Chryssa; Chaliasos, Nikolaos

    2016-02-01

    Nowadays, thalassaemia major (TM) patients are surviving into mature young adulthood; however, no published instrument exists to measure the expectations' dimensionality among older TM patients in their thirties. This study seeks to validate a novel multidimensional expectation questionnaire suitable for TM patients (MEQ-TMP) reaching their fourth decade of life. In order to establish the psychometric properties of the instrument, data analysis was carried out. The principal component analysis revealed four components ('Supportive social network'; 'Raising one's own family'; 'Career advancement'; 'Ability of daily activities'). Their cumulative contribution rate was 66.32%. Cronbach's alpha for the total scale was 0.87. Each subscale had an alpha value above 0.70; three subscales were in the 0.80 range. MEQ-TMP reliability was proved to be good. The known-group method served as a strategy in examining the operationalisation of the questionnaire's constructs. The present MEQ-TMP, developed for the aged group of TM patients, would be a useful tool for clinical personnel providing care to TM patients in understanding their outlook on life as they are growing up, to have better psychosocial adjustment to illness chronicity, live life as normally as possible, and fulfill their ambitions; thus enhancing their life satisfaction and quality of life. PMID:26383219

  18. Quantitative trait loci on chromosome 8q24 for pancreatic beta-cell function and 7q11 for insulin sensitivity in obese nondiabetic white and black families: evidence from genome-wide linkage scans in the NHLBI Hypertension Genetic Epidemiology Network (HyperGEN) study.

    PubMed

    An, Ping; Freedman, Barry I; Rich, Stephen S; Mandel, Stephen A; Arnett, Donna K; Myers, Richard H; Chen, Yii-Der I; Hunt, Steven C; Rao, D C

    2006-02-01

    Genome-wide linkage scans were carried out using a multipoint variance components method in white and black families of the NHLBI Hypertension Genetic Epidemiology Network (HyperGEN) study to identify quantitative trait loci (QTLs) for pancreatic beta-cell function and insulin sensitivity estimated through the newly released nonlinear computer version of homeostasis model assessment 2. Participants fasting <8 h, with diagnosed type 2 diabetes, or taking blood glucose or blood lipid-lowering medications were excluded. Both phenotypes were adjusted separately by race and sex for the effects of age, BMI, and field center before linkage scans using 370 microsatellite markers were performed. A total of 685 white families (1,180 sibpairs) and 773 black families (775 sibpairs) were evaluated as well as subsets including 267 obese white families (757 sibpairs) and 427 obese black families (599 sibpairs) identified through tree-linkage analyses using interacting covariates of age, sex, and BMI. For beta-cell function in the obese white families, significant (logarithm of odds [LOD] score >3.6) evidence supporting linkages was detected on chromosome 8q24 at D8S1179 (135 cM, LOD score 4.2, empirical P = 0.002) and at D8S1128 (140 cM, LOD score 3.7, empirical P = 0.003). In addition, two regions supported linkage for insulin sensitivity index in the obese black families on chromosome 7q11 at D7S3046 (79 cM, LOD score 3.0, empirical P = 0.018) and on chromosome 6q26 at D6S1277 (173 cM, LOD score 3.0, empirical P = 0.018). Reducing clinical heterogeneity using obesity data and improved estimates of beta-cell function and insulin sensitivity may have permitted identification of a QTL on chromosome 8q24 for beta-cell function in the presence of estimated insulin resistance and a QTL on chromosome 7q11 for insulin sensitivity. These regions replicate previous reports for type 2 diabetes-associated traits. PMID:16443794

  19. Sickle Cell Trait

    MedlinePlus

    ... About Us Information For... Media Policy Makers Sickle Cell Trait Language: English Español (Spanish) Recommend on Facebook ... the trait on to their children. How Sickle Cell Trait is Inherited If both parents have SCT, ...

  20. Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia.

    PubMed

    Tan, K L; Tan, J A; Wong, Y C; Wee, Y C; Thong, M K; Yap, S F

    2001-01-01

    Beta-thalassemia major patients have chronic anemia and are dependent on blood transfusions to sustain life. Molecular characterization and prenatal diagnosis of beta3-thalassemia is essential in Malaysia because about 4.5% of the population are heterozygous carriers for beta-thalassemia. The high percentage of compound heterozygosity (47.62%) found in beta-thalassemia major patients in the Thalassaemia Registry, University of Malaya Medical Centre (UMMC), Malaysia, also supports a need for rapid, economical, and sensitive protocols for the detection of beta-thalassemia mutations. Molecular characterization of beta-thalassemia mutations in Malaysia is currently carried out using ARMS, which detects a single beta-thalassemia mutation per PCR reaction. We developed and evaluated Combine amplification refractory mutation system (C-ARMS) techniques for efficient molecular detection of two to three beta-thalassemia mutations in a single PCR reaction. Three C-ARMS protocols were evaluated and established for molecular characterization of common beta-thalassemia mutations in the Malay and Chinese ethnic groups in Malaysia. Two C-ARMS protocols (cd 41-42/IVSII #654 and -29/cd 71-72) detected the beta-thalassemia mutations in 74.98% of the Chinese patients studied. The CARMS for cd 41-42/IVSII #654 detected beta-thalassemia mutations in 72% of the Chinese families. C-ARMS for cd 41-42/IVSI #5/cd 17 allowed detection of beta-thalassemia mutations in 36.53% of beta-thalassemia in the Malay patients. C-ARMS for cd 41-42/IVSI #5/cd 17 detected beta-thalassemia in 45.54% of the Chinese patients. We conclude that C-ARMS with the ability to detect two to three mutations in a single reaction provides more rapid and cost-effective protocols for beta-thalassemia prenatal diagnosis and molecular analysis programs in Malaysia. PMID:11336396

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

    PubMed

    Belen, Burcu; Polat, Meltem

    2015-01-01

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

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  4. Uncertainty quantified trait predictions

    NASA Astrophysics Data System (ADS)

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

    2015-04-01

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

  5. Whole Trait Theory

    PubMed Central

    Fleeson, William; Jayawickreme, Eranda

    2014-01-01

    Personality researchers should modify models of traits to include mechanisms of differential reaction to situations. Whole Trait Theory does so via five main points. First, the descriptive side of traits should be conceptualized as density distributions of states. Second, it is important to provide an explanatory account of the Big 5 traits. Third, adding an explanatory account to the Big 5 creates two parts to traits, an explanatory part and a descriptive part, and these two parts should be recognized as separate entities that are joined into whole traits. Fourth, Whole Trait Theory proposes that the explanatory side of traits consists of social-cognitive mechanisms. Fifth, social-cognitive mechanisms that produce Big-5 states should be identified. PMID:26097268

  6. Elevated IgG and decreased complement component C3 and factor B in B-thalassaemia major.

    PubMed

    Sinniah, D; Yadav, M

    1981-07-01

    Serum immunoglobulins, complements C3 and C4 and factor B were assayed in the sera of children with B-thalassaemia major, siblings and matched controls in an attempt to resolve the controversy surrounding the conflicting results reported in the literature. Significantly elevated IgG and decreased C3 and factor B levels were observed in thalassaemic patients who also had a high incidence of HBS hepatitis and other infections. The controversial results probably reflect differences in the incidence of infection, and the presence of circulating immune complexes due to blood transfusions, in the various communities. The alterations in immunoglobulin and complement levels represent a secondary rather than a primary immune disorder. PMID:6914868

  7. The effect of metoprolol succinate on the cardiac function of patients with thalassaemia cardiomyopathy: a double-blind randomised study

    PubMed Central

    Kojury, Javad; Zolghadrasli, Abdolali; Karimi, Mehran; Babaee Beighi, Mohammad Ali; Namazi, Soha

    2014-01-01

    Background Heart failure is the most common cause of mortality in β-thalassaemia major. However, the management of this disease, apart from chelation therapy, is largely empirical. Therefore, we decided to evaluate the effect of metoprolol succinate on patients with thalassaemia cardiomyopathy (TCM). Materials and methods In this clinical trial, 45 patients with TCM were randomised to receive either metoprolol (n=26) or placebo (n=19). Echocardiography and a 6 min walk test were performed at baseline and repeated after 6 months and the values compared. Results In the metoprolol group, left ventricular ejection fraction (LVEF) rose from 38.65% to 42.84% (p<0.001), while it decreased in the placebo group from 37.89% to 35.84% (p=0.01); the difference between the two groups was significant (p<0.001). Left ventricular (LV) mass in the metoprolol group decreased from 154.31 to 144.26 g (p=0.02), while in the placebo group it increased from 174.32 to 200.15 g (p=0.68); the difference between the two groups was significant (p<0.001). End systolic volume (ESV) decreased in the metoprolol group from 42.19 to 36.73 cm3 (p<0.001) but increased from 47.37 to 57.42 cm3 in the placebo group (p=0.144); the difference between the groups was significant (p<0.001). No differences in exercise capacity or pulmonary capillary wedge pressure were seen between the two groups (p=0.268 and p=0.535, respectively). Conclusions Metoprolol succinate as a β-blocker may have the potential to significantly improve systolic function in patients with TCM and reverse LV remodelling to the same extent as in other types of cardiomyopathy. Trial registration number NCT01863173. PMID:27326168

  8. Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia

    PubMed Central

    Bouazzi, Habib; Thakur, Seema; Trujillo, Carlos; Alwasiyah, Mohammad Khalid; Munnich, Arnold

    2016-01-01

    Background & objectives: ATRX is a recessive X-linked intellectual deficiency (X-LID) gene causing predominately alpha-thalassaemia with a wide and clinically heterogeneous spectrum of intellectual deficiency syndromes. Although alpha-thalassaemia is commonly present, some patients do not express this sign despite the ATRX gene being altered. Most pathological mutations have been localized in two different major domains, the helicase and the plant homeo-domain (PHD)-like domain. In this study we examined a family of three males having an X-linked mental deficiency and developmental delay, and tried to establish a genetic diagnosis while discussing and comparing the phenotype of our patients to those reported in the literature. Methods: Three related males with intellectual deficiency underwent clinical investigations. We performed a karyotype analysis, CGH-array, linkage study, and X-exome sequencing in the index case to identify the genetic origin of this disorder. The X-inactivation study was carried out in the mother and Sanger sequencing was achieved in all family members to confirm the mutation. Results: A novel ATRX gene missense mutation (p.His2247Pro) was identified in a family of two uncles and their nephew manifesting intellectual deficiency and specific facial features without alpha-thalassaemia. The mutation was confirmed by Sanger sequencing. It segregated with the pathological phenotype. The mother and her two daughters were found to be heterozygous. Interpretation & conclusions: The novel mutation c.6740A>C was identified within the ATRX gene helicase domain and confirmed by Sanger sequencing in the three affected males as well as in the mother and her two daughters. This mutation was predicted to be damaging and deleterious. The novel mutation segregated with the phenotype without alpha-thalassaemia and with non-skewed X chromosome. PMID:26997013

  9. Clinical Severity of β-thalassaemia/Hb E Disease Is Associated with Differential Activities of the Calpain-Calpastatin Proteolytic System

    PubMed Central

    Sukati, Suriyan; Svasti, Saovaros; Stifanese, Roberto; Averna, Monica; Panutdaporn, Nantika; Penglong, Tipparat; Melloni, Edon; Fucharoen, Suthat; Katzenmeier, Gerd

    2012-01-01

    Earlier observations in the literature suggest that proteolytic degradation of excess unmatched α-globin chains reduces their accumulation and precipitation in β-thalassaemia erythroid precursor cells and have linked this proteolytic degradation to the activity of calpain protease. The aim of this study was to correlate the activity of calpain and its inhibitor, calpastatin, with different degrees of disease severity in β-thalassaemia. CD34+ cells were enriched from peripheral blood of healthy individuals (control group) and patients with mild and severe clinical presentations of β0-thalassaemia/Hb E disease. By ex vivo cultivation promoting erythroid cell differentiation for 7 days, proerythroblasts, were employed for the functional characterization of the calpain-calpastatin proteolytic system. In comparison to the control group, enzymatic activity and protein amounts of μ-calpain were found to be more than 3-fold increased in proerythroblasts from patients with mild clinical symptoms, whereas no significant difference was observed in patients with severe clinical symptoms. Furthermore, a 1.6-fold decrease of calpastatin activity and 3.2-fold accumulation of a 34 kDa calpain-mediated degradation product of calpastatin were observed in patients with mild clinical symptoms. The increased activity of calpain may be involved in the removal of excess α-globin chains contributing to a lower degree of disease severity in patients with mild clinical symptoms. PMID:22615919

  10. FishTraits Database

    USGS Publications Warehouse

    Angermeier, Paul L.; Frimpong, Emmanuel A.

    2009-01-01

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

  11. Novel Polymorphisms of Adrenergic, Alpha-1B-, Receptor and Peroxisome Proliferator-activated Receptor Gamma, Coactivator 1 Beta Genes and Their Association with Egg Production Traits in Local Chinese Dagu Hens

    PubMed Central

    Mu, F.; Jing, Y.; Qin, N.; Zhu, H. Y.; Liu, D. H.; Yuan, S. G.; Xu, R. F.

    2016-01-01

    Adrenergic, alpha-1B-, receptor (ADRA1B) and peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B) genes are involved in regulation of hen ovarian development. In this study, these two genes were investigated as possible molecular markers associated with hen-housed egg production, egg weight (EW) and body weight in Chinese Dagu hens. Samples were analyzed using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique, followed by sequencing analysis. Two novel single nucleotide polymorphisms (SNPs) were identified within the candidate genes. Among them, an A/G transition at base position 1915 in exon 2 of ADRA1B gene and a T/C mutation at base position 6146 in the 3′-untranslated region (UTR) of PPARGC1B gene were found to be polymorphic and named SNP A1915G and T6146C, respectively. The SNP A1915G (ADRA1B) leads to a non-synonymous substitution (aspartic acid 489-to-glycine). The 360 birds from the Dagu population were divided into genotypes AA and AG, allele A was found to be present at a higher frequency. Furthermore, the AG genotype correlated with significantly higher hen-housed egg production (HHEP) at 30, 43, 57, and 66 wks of age and with a higher EW at 30 and 43 wks (p<0.05). For the SNP T6146C (PPARGC1B), the hens were typed into TT and TC genotypes, with the T allele shown to be dominant. The TC genotype was also markedly correlated with higher HHEP at 57 and 66 wks of age and EW at 30 and 43 wks (p<0.05). Moreover, four haplotypes were reconstructed based on these two SNPs, with the AGTC haplotype found to be associated with the highest HHEP at 30 to 66 wks of age and with higher EW at 30 and 43 wks (p<0.05). Collectively, the two SNPs identified in this study might be used as potential genetic molecular markers favorable in the improvement of egg productivity in chicken breeding. PMID:26954135

  12. Novel Polymorphisms of Adrenergic, Alpha-1B-, Receptor and Peroxisome Proliferator-activated Receptor Gamma, Coactivator 1 Beta Genes and Their Association with Egg Production Traits in Local Chinese Dagu Hens.

    PubMed

    Mu, F; Jing, Y; Qin, N; Zhu, H Y; Liu, D H; Yuan, S G; Xu, R F

    2016-09-01

    Adrenergic, alpha-1B-, receptor (ADRA1B) and peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B) genes are involved in regulation of hen ovarian development. In this study, these two genes were investigated as possible molecular markers associated with hen-housed egg production, egg weight (EW) and body weight in Chinese Dagu hens. Samples were analyzed using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique, followed by sequencing analysis. Two novel single nucleotide polymorphisms (SNPs) were identified within the candidate genes. Among them, an A/G transition at base position 1915 in exon 2 of ADRA1B gene and a T/C mutation at base position 6146 in the 3'-untranslated region (UTR) of PPARGC1B gene were found to be polymorphic and named SNP A1915G and T6146C, respectively. The SNP A1915G (ADRA1B) leads to a non-synonymous substitution (aspartic acid 489-to-glycine). The 360 birds from the Dagu population were divided into genotypes AA and AG, allele A was found to be present at a higher frequency. Furthermore, the AG genotype correlated with significantly higher hen-housed egg production (HHEP) at 30, 43, 57, and 66 wks of age and with a higher EW at 30 and 43 wks (p<0.05). For the SNP T6146C (PPARGC1B), the hens were typed into TT and TC genotypes, with the T allele shown to be dominant. The TC genotype was also markedly correlated with higher HHEP at 57 and 66 wks of age and EW at 30 and 43 wks (p<0.05). Moreover, four haplotypes were reconstructed based on these two SNPs, with the AGTC haplotype found to be associated with the highest HHEP at 30 to 66 wks of age and with higher EW at 30 and 43 wks (p<0.05). Collectively, the two SNPs identified in this study might be used as potential genetic molecular markers favorable in the improvement of egg productivity in chicken breeding. PMID:26954135

  13. Generalized Latent Trait Models.

    ERIC Educational Resources Information Center

    Moustaki, Irini; Knott, Martin

    2000-01-01

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

  14. Functional trait space and the latitudinal diversity gradient

    PubMed Central

    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

    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

  15. Phylogenies and traits provide distinct insights about the historical and contemporary assembly of aquatic insect communities.

    PubMed

    Saito, Victor S; Cianciaruso, Marcus Vinicius; Siqueira, Tadeu; Fonseca-Gessner, Alaide A; Pavoine, Sandrine

    2016-05-01

    The assumption that traits and phylogenies can be used as proxies of species niche has faced criticisms. Evidence suggested that phylogenic relatedness is a weak proxy of trait similarity. Moreover, different processes can select different traits, giving opposing signals in null model analyses. To circumvent these criticisms, we separated traits of stream insects based on the concept of α and β niches, which should give clues about assembling pressures expected to act independently of each other. We investigated the congruence between the phylogenetic structure and trait structure of communities using all available traits and all possible combinations of traits (4095 combinations). To account for hierarchical assembling processes, we analyzed patterns on two spatial scales with three pools of genera. Beta niche traits selected a priori - i.e., traits related to environmental variation (e.g., respiration type) - were consistently clustered on the smaller scale, suggesting environmental filtering, while α niche traits - i.e., traits related to resource use (e.g., trophic position) - did not display the expected overdispersion, suggesting a weak role of competition. Using all traits together provided random patterns and the analysis of all possible combinations of traits provided scenarios ranging from strong clustering to overdispersion. Communities were phylogenetically overdispersed, a pattern previously interpreted as phylogenetic limiting similarity. However, our results likely reflect the co-occurrence of ancient clades due to the stability of stream habitats along the evolutionary scale. We advise ecologists to avoid using combinations of all available traits but rather carefully traits based on the objective under consideration. Both trait and phylogenetic approaches should be kept in the ecologist toolbox, but phylogenetic distances should not be used as proxies of traits differences. Although the phylogenetic structure revealed processes operating at the

  16. A FACS Based Case Study on Two HbE-β Thalassaemia Members of a Family, Having Similar Mutational Background.

    PubMed

    Chatterjee, Tridip; Halder, Suchismita; Chakravarty, Amit; Chakravarty, Sudipa; Chakrabarti, Abhijit

    2016-01-01

    In this report we have tried to explain the reasons behind the difference in the pattern of transfusion requirement between two members of a family with similar β-globin mutation. The father and younger son both are HbE-β, but the father never had transfusion, whereas the younger son takes transfusion monthly. Mother and the elder son are HbEE without any history of transfusion. β-globin mutations of all family members were determined by ARMS-PCR. These were reconfirmed by direct sequencing of β-globin gene. Father and younger son were found to be Cod 26 (G-A)/IVS 1-5 (G-C), whereas mother and elder son were found to be Cod 26 (G-A)/Cod 26 (G-A). XmnI sequencing also revealed that all members of the family were CC. Then, flow cytometry study of red blood cells (RBCs) was performed to measure the oxidative stress of the RBCs. This study was also done on the light and dense fractions of the RBC population of the father and younger son. It was seen that the younger son suffers severe oxidative stress, which can be explained by his higher transfusion requirement. From our work, we have established the importance of taking oxidative stress of RBCs into consideration to explain the clinical manifestation and progression of haemoglobin related diseases like thalassaemia. PMID:27195173

  17. A FACS Based Case Study on Two HbE-β Thalassaemia Members of a Family, Having Similar Mutational Background

    PubMed Central

    Chatterjee, Tridip; Halder, Suchismita; Chakravarty, Amit; Chakravarty, Sudipa; Chakrabarti, Abhijit

    2016-01-01

    In this report we have tried to explain the reasons behind the difference in the pattern of transfusion requirement between two members of a family with similar β-globin mutation. The father and younger son both are HbE-β, but the father never had transfusion, whereas the younger son takes transfusion monthly. Mother and the elder son are HbEE without any history of transfusion. β-globin mutations of all family members were determined by ARMS-PCR. These were reconfirmed by direct sequencing of β-globin gene. Father and younger son were found to be Cod 26 (G-A)/IVS 1-5 (G-C), whereas mother and elder son were found to be Cod 26 (G-A)/Cod 26 (G-A). XmnI sequencing also revealed that all members of the family were CC. Then, flow cytometry study of red blood cells (RBCs) was performed to measure the oxidative stress of the RBCs. This study was also done on the light and dense fractions of the RBC population of the father and younger son. It was seen that the younger son suffers severe oxidative stress, which can be explained by his higher transfusion requirement. From our work, we have established the importance of taking oxidative stress of RBCs into consideration to explain the clinical manifestation and progression of haemoglobin related diseases like thalassaemia. PMID:27195173

  18. 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...

  19. Global mammal beta diversity shows parallel assemblage structure in similar but isolated environments.

    PubMed

    Penone, Caterina; Weinstein, Ben G; Graham, Catherine H; Brooks, Thomas M; Rondinini, Carlo; Hedges, S Blair; Davidson, Ana D; Costa, Gabriel C

    2016-08-31

    The taxonomic, phylogenetic and trait dimensions of beta diversity each provide us unique insights into the importance of historical isolation and environmental conditions in shaping global diversity. These three dimensions should, in general, be positively correlated. However, if similar environmental conditions filter species with similar trait values, then assemblages located in similar environmental conditions, but separated by large dispersal barriers, may show high taxonomic, high phylogenetic, but low trait beta diversity. Conversely, we expect lower phylogenetic diversity, but higher trait biodiversity among assemblages that are connected but are in differing environmental conditions. We calculated all pairwise comparisons of approximately 110 × 110 km grid cells across the globe for more than 5000 mammal species (approx. 70 million comparisons). We considered realms as units representing geographical distance and historical isolation and biomes as units with similar environmental conditions. While beta diversity dimensions were generally correlated, we highlight geographical regions of decoupling among beta diversity dimensions. Our analysis shows that assemblages from tropical forests in different realms had low trait dissimilarity while phylogenetic beta diversity was significantly higher than expected, suggesting potential convergent evolution. Low trait beta diversity was surprisingly not found between isolated deserts, despite harsh environmental conditions. Overall, our results provide evidence for parallel assemblage structure of mammal assemblages driven by environmental conditions at a global scale. PMID:27559061

  20. DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia.

    PubMed

    Tan, Jin Ai Mary Anne; Kho, Siew Leng; Ngim, Chin Fang; Chua, Kek Heng; Goh, Ai Sim; Yeoh, Seoh Leng; George, Elizabeth

    2016-01-01

    Haemoglobin (Hb) Adana (HBA2:c.179>A) interacts with deletional and nondeletional α-thalassaemia mutations to produce HbH disorders with varying clinical manifestations from asymptomatic to severe anaemia with significant hepatosplenomegaly. Hb Adana carriers are generally asymptomatic and haemoglobin subtyping is unable to detect this highly unstable α-haemoglobin variant. This study identified 13 patients with compound heterozygosity for Hb Adana with either the 3.7 kb gene deletion (-α(3.7)), Hb Constant Spring (HbCS) (HBA2:c.427T>C) or Hb Paksé (HBA2:429A>T). Multiplex Amplification Refractory Mutation System was used for the detection of five deletional and six nondeletional α-thalassaemia mutations. Duplex-PCR was used to confirm Hb Paksé and HbCS. Results showed 84.6% of the Hb Adana patients were Malays. Using DNA studies, compound heterozygosity for Hb Adana and HbCS (α(codon 59)α/α(CS)α) was confirmed in 11 patients. A novel point in this investigation was that DNA studies confirmed Hb Paksé for the first time in a Malaysian patient (α(codon 59)α/α(Paksé)α) after nine years of being misdiagnosis with Hb Adana and HbCS (α(codon 59)α/α(CS)α). Thus, the reliance on haematology studies and Hb subtyping to detect Hb variants is inadequate in countries where thalassaemia is prevalent and caused by a wide spectrum of mutations. PMID:27271331

  1. DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia

    PubMed Central

    Tan, Jin Ai Mary Anne; Kho, Siew Leng; Ngim, Chin Fang; Chua, Kek Heng; Goh, Ai Sim; Yeoh, Seoh Leng; George, Elizabeth

    2016-01-01

    Haemoglobin (Hb) Adana (HBA2:c.179>A) interacts with deletional and nondeletional α-thalassaemia mutations to produce HbH disorders with varying clinical manifestations from asymptomatic to severe anaemia with significant hepatosplenomegaly. Hb Adana carriers are generally asymptomatic and haemoglobin subtyping is unable to detect this highly unstable α-haemoglobin variant. This study identified 13 patients with compound heterozygosity for Hb Adana with either the 3.7 kb gene deletion (-α3.7), Hb Constant Spring (HbCS) (HBA2:c.427T>C) or Hb Paksé (HBA2:429A>T). Multiplex Amplification Refractory Mutation System was used for the detection of five deletional and six nondeletional α-thalassaemia mutations. Duplex-PCR was used to confirm Hb Paksé and HbCS. Results showed 84.6% of the Hb Adana patients were Malays. Using DNA studies, compound heterozygosity for Hb Adana and HbCS (αcodon 59α/αCSα) was confirmed in 11 patients. A novel point in this investigation was that DNA studies confirmed Hb Paksé for the first time in a Malaysian patient (αcodon 59α/αPakséα) after nine years of being misdiagnosis with Hb Adana and HbCS (αcodon 59α/αCSα). Thus, the reliance on haematology studies and Hb subtyping to detect Hb variants is inadequate in countries where thalassaemia is prevalent and caused by a wide spectrum of mutations. PMID:27271331

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  3. The Trait Psychology Controversy.

    ERIC Educational Resources Information Center

    Morgan, William P.

    1980-01-01

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

  4. Power and Autistic Traits

    PubMed Central

    Overskeid, Geir

    2016-01-01

    Autistic traits can help people gain and sustain power, and has probably done so throughout history, says the present paper. A number of testable claims follow from this assumption. First, the powerful should have more autistic traits than others – which they do appear to have. Among other things, powerful people, and those with many autistic traits, tend to prefer solitary activities and are often aloof. Moreover, they are often rigid and socially insensitive, low on empathy and with low scores on the trait of agreeableness – and as a rule they do not have many friends. Both groups are also more self-centered than others, more honest, less submissive, more sensitive to slights, and with a stronger tendency to engage in abstract thinking. They tend to behave in bossy or dominant ways, and their moral judgment is more based on rules than on feelings. In addition to experimental evidence, I cite biographies showing that a surprising number of presidents, prime ministers and other powerful people seem to have had traits like those in question – and interestingly, in animals, leaders are often rigid and insensitive to group members’ needs and feelings, mostly acting the way they are themselves inclined to, not responding much to others. Problem solving is important in leadership, and people with many autistic traits appear often to be better thinkers than typical subjects with similar IQs. However, these and other congruities could be coincidences. Hence the question of whether traits the two groups have in common also have a common cause constitutes a strong test of the paper’s thesis – and a common cause does appear to exist, in the form of testosterone’s effects on the central nervous system. Finally, there is evidence that, other things equal, powerful men have more reproductive success than others. If men wielding power do indeed have more autistic traits than those less powerful, this will lead to, other things equal, such traits becoming more

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

    PubMed

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

    2016-03-01

    Efficacy and safety of iron chelation therapy with deferasirox in iron-overloaded non-transfusion-dependent thalassaemia (NTDT) patients were established in the THALASSA study. THETIS, an open-label, single-arm, multicentre, Phase IV study, added to this evidence by investigating earlier dose escalation by baseline liver iron concentration (LIC) (week 4: escalation according to baseline LIC; week 24: adjustment according to LIC response, maximum 30mg/kg/day). The primary efficacy endpoint was absolute change in LIC from baseline to week 52. 134 iron-overloaded non-transfusion-dependent anaemia patients were enrolled and received deferasirox starting at 10mg/kg/day. Mean actual dose±SD over 1year was 14.70±5.48mg/kg/day. At week 52, mean LIC±SD decreased significantly from 15.13±10.72mg Fe/g dw at baseline to 8.46±6.25mg Fe/g dw (absolute change from baseline, -6.68±7.02mg Fe/g dw [95% CI: -7.91, -5.45]; P<0.0001). Most common drug-related adverse events were gastrointestinal: abdominal discomfort, diarrhoea and nausea (n=6 each). There was one death (pneumonia, not considered drug related). With significant and clinically relevant reductions in iron burden alongside a safety profile similar to that in THALASSA, these data support earlier escalation with higher deferasirox doses in iron-overloaded non-transfusion-dependent anaemia patients. PMID:26852651

  6. beta-Hexachlorocyclohexane (beta-HCH)

    Integrated Risk Information System (IRIS)

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

  7. Hemoglobin D-beta (0) thalassemia. A case report and family study.

    PubMed

    Dawod, S T; Abulaban, M; Kamel, K; Huisman, T H

    1988-01-01

    Findings are presented on a Pakistani family in Doha, Qatar with hemoglobin D-Los Angeles (alpha 2 beta 3 121 (glutamine----glycine) and thalassemia trait. The propositus, a child, has hemoglobin D-beta(0) thalassemia, and suffers from moderately severe hemolytic anemia. The father has beta-thalassemia trait, and the mother is heterozygous for hemoglobin D-Los Angeles. This, the eighth confirmed case in the medical literature, is reported to emphasize its clinical manifestations and genetic basis. PMID:3239708

  8. Origins of Metastatic Traits

    PubMed Central

    Vanharanta, Sakari; Massagué, Joan

    2014-01-01

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

  9. Bayesian Quantitative Trait Loci Mapping for Multiple Traits

    PubMed Central

    Banerjee, Samprit; Yandell, Brian S.; Yi, Nengjun

    2008-01-01

    Most quantitative trait loci (QTL) mapping experiments typically collect phenotypic data on multiple correlated complex traits. However, there is a lack of a comprehensive genomewide mapping strategy for correlated traits in the literature. We develop Bayesian multiple-QTL mapping methods for correlated continuous traits using two multivariate models: one that assumes the same genetic model for all traits, the traditional multivariate model, and the other known as the seemingly unrelated regression (SUR) model that allows different genetic models for different traits. We develop computationally efficient Markov chain Monte Carlo (MCMC) algorithms for performing joint analysis. We conduct extensive simulation studies to assess the performance of the proposed methods and to compare with the conventional single-trait model. Our methods have been implemented in the freely available package R/qtlbim (http://www.qtlbim.org), which greatly facilitates the general usage of the Bayesian methodology for unraveling the genetic architecture of complex traits. PMID:18689903

  10. Evolving Trait Concepts.

    ERIC Educational Resources Information Center

    Anastasi, Anne

    1983-01-01

    Redefines intelligence as a useful, comprehensive, and flexible construct that allows its modifiability as a function of age and culture. Reviews theories on two-factor, multiple-factor, facet, and hierarchical models of trait formation based on research in developmental, cross-cultural, learning, and cognitive psychology. (Author/AOS)

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

    PubMed

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

    2011-12-01

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

  12. Critical Thinking: Developing Intellectual Traits.

    ERIC Educational Resources Information Center

    Elder, Linda; Paul, Richard

    1998-01-01

    Stresses that critical thinking is more than a set of skills; it also involves intellectual traits that should be cultivated. These traits include intellectual humility, courage, empathy, integrity, and perseverance; faith in reason; and fair-mindedness. Self-questioning is an important means of developing these traits. (SL)

  13. Trait emotional intelligence and the dark triad traits of personality.

    PubMed

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

    2011-02-01

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

  14. Trait Emotional Intelligence and Personality

    PubMed Central

    Furnham, Adrian; Petrides, K. V.

    2015-01-01

    This study investigated if the linkages between trait emotional intelligence (trait EI) and the Five-Factor Model of personality were invariant between men and women. Five English-speaking samples (N = 307-685) of mostly undergraduate students each completed a different measure of the Big Five personality traits and either the full form or short form of the Trait Emotional Intelligence Questionnaire (TEIQue). Across samples, models predicting global TEIQue scores from the Big Five were invariant between genders, with Neuroticism and Extraversion being the strongest trait EI correlates, followed by Conscientiousness, Agreeableness, and Openness. However, there was some evidence indicating that the gender-specific contributions of the Big Five to trait EI vary depending on the personality measure used, being more consistent for women. Discussion focuses on the validity of the TEIQue as a measure of trait EI and its psychometric properties, more generally. PMID:25866439

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

    PubMed

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

    2014-12-01

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

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

    PubMed

    Baker, Jillian G

    2005-02-01

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

  17. High Beta Tokamaks

    SciTech Connect

    Cowley, S.

    1998-11-14

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

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

    PubMed

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

    2013-09-26

    Recently, loss of beta-cell-specific traits has been proposed as an early cause of beta cell failure in diabetes. However, the molecular mechanisms that underlie the loss of beta cell features remain unclear. Here, we identify an Nkx6.1-controlled gene regulatory network as essential for maintaining the functional and molecular traits of mature beta cells. Conditional Nkx6.1 inactivation in adult mice caused rapid-onset diabetes and hypoinsulinemia. Genome-wide analysis of Nkx6.1-regulated genes and functional assays further revealed a critical role for Nkx6.1 in the control of insulin biosynthesis, insulin secretion, and beta cell proliferation. Over time, Nkx6.1-deficient beta cells acquired molecular characteristics of delta cells, revealing a molecular link between impaired beta cell functional properties and loss of cell identity. Given that Nkx6.1 levels are reduced in human type 2 diabetic beta cells, our study lends support to the concept that loss of beta cell features could contribute to the pathogenesis of diabetes. PMID:24035389

  19. 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 ...

  20. Beta-Carotene

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  1. Rapid synthesis of beta zeolites

    SciTech Connect

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

    2015-08-18

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

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  3. Quantitative trait loci associated with the tocochromanol (vitamin E) pathway in barley

    Technology Transfer Automated Retrieval System (TEKTRAN)

    In this study, the Genome-Wide Association Studies approach was used to detect Quantitative Trait Loci associated with tocochromanol concentrations using a panel of 1,466 barley accessions. All major tocochromanol types- alpha-, beta-, delta-, gamma-tocopherol and tocotrienol- were assayed. We found...

  4. Anxiety: States, Traits--Situations?

    ERIC Educational Resources Information Center

    Kendall, Philip C.

    1978-01-01

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

  5. Beta-carotene

    MedlinePlus

    ... blindness during pregnancy, as well as diarrhea and fever after giving birth. Some people who sunburn easily, ... seems to reduce the incidence of diarrhea and fever post-childbirth. Pregnancy-related complications. Taking beta-carotene ...

  6. Beta experiment flight report

    NASA Technical Reports Server (NTRS)

    1982-01-01

    A focused laser Doppler velocimeter system was developed for the measurement of atmospheric backscatter (beta) from aerosols at infrared wavelengths. The system was flight tested at several different locations and the results of these tests are summarized.

  7. Beta-carotene

    MedlinePlus

    ... brain in people who drink alcohol. Preventing abdominal aortic aneurysm, or the enlargement of a large vessel running ... years does not reduce the occurrence of abdominal aortic aneurysm in male smokers. Cancer. Beta-carotene does not ...

  8. Exaggerated trait growth in insects.

    PubMed

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

    2015-01-01

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

  9. High beta multipoles

    SciTech Connect

    Prager, S C

    1982-05-01

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

  10. Bayesian Shrinkage Analysis of Quantitative Trait Loci for Dynamic Traits

    PubMed Central

    Yang, Runqing; Xu, Shizhong

    2007-01-01

    Many quantitative traits are measured repeatedly during the life of an organism. Such traits are called dynamic traits. The pattern of the changes of a dynamic trait is called the growth trajectory. Studying the growth trajectory may enhance our understanding of the genetic architecture of the growth trajectory. Recently, we developed an interval-mapping procedure to map QTL for dynamic traits under the maximum-likelihood framework. We fit the growth trajectory by Legendre polynomials. The method intended to map one QTL at a time and the entire QTL analysis involved scanning the entire genome by fitting multiple single-QTL models. In this study, we propose a Bayesian shrinkage analysis for estimating and mapping multiple QTL in a single model. The method is a combination between the shrinkage mapping for individual quantitative traits and the Legendre polynomial analysis for dynamic traits. The multiple-QTL model is implemented in two ways: (1) a fixed-interval approach where a QTL is placed in each marker interval and (2) a moving-interval approach where the position of a QTL can be searched in a range that covers many marker intervals. Simulation study shows that the Bayesian shrinkage method generates much better signals for QTL than the interval-mapping approach. We propose several alternative methods to present the results of the Bayesian shrinkage analysis. In particular, we found that the Wald test-statistic profile can serve as a mechanism to test the significance of a putative QTL. PMID:17435239

  11. Inhaled beta agonists.

    PubMed

    Op't Holt, Timothy B

    2007-07-01

    The beta(2) adrenoreceptor is a large molecule of some 413 amino acids. The duration of stimulation of this receptor depends on where and for how long a beta(2) adrenergic drug attaches itself to the beta(2) adrenoreceptor. beta(2) adrenergic drugs have been used for over 5,000 years, but only recently have we had the advantage of adrenergic drugs specific to the beta(2) adrenoreceptor. The short-acting beta(2) adrenergic drugs most frequently used include albuterol, pirbuterol, and levalbuterol. Levalbuterol, the R enantiomer of albuterol, has been described by some as a more effective bronchodilator than racemic albuterol, because it contains none of the S enantiomer. Some contend that the S isomer has pro-inflammatory properties. The 2 long-acting beta(2) adrenergic drugs are salmeterol and formoterol. These drugs have a duration of 12 h and reportedly improve forced expiratory volume in the first second, quality of life, and symptoms. Some recent reports indicate that these drugs are associated with higher mortality, but several authors have registered the opinion that it is not the bronchodilator that should be questioned, but instead that the fault lies in the patient recruitment in those studies. Regardless, if these long-acting drugs are effective for a given patient, it would seem inadvisable to withdraw them, given the current state of evidence. Arformoterol tartrate, the R enantiomer of formoterol, was approved by the U.S. Food and Drug Administration in October 2006; it is available as a nebulizer solution, to be administered every 12 h. Several other long-acting R isomers and RR isomers are in the approval pipeline. PMID:17594727

  12. Boosted Beta Regression

    PubMed Central

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

    2013-01-01

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

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

    PubMed Central

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

    2002-01-01

    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 γ-aminobutyric acid type A (GABAA) action. Advances in molecular and statistical genetics permit examination of quantitative traits such as the beta frequency of the human electroencephalogram in conjunction with DNA markers. We report a significant linkage and linkage disequilibrium between beta frequency and a set of GABAA receptor genes. Uncovering the genes influencing brain oscillations provides a better understanding of the neural function involved in information processing. PMID:11891318

  14. 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...

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

    PubMed Central

    2009-01-01

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

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

    PubMed

    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

    We conducted a cross-sectional study on 924 β-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

  17. Authoritarian Personality Traits Among Students

    ERIC Educational Resources Information Center

    Dunham, J.

    1973-01-01

    The results are reported of an investigation into the social attitudes of the total population (800) of one English university using Adorno's F scale to measure authoritarian personality traits. (Author)

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  19. IO SUBSYSTEM 1 BETA

    SciTech Connect

    Sjaardema, Greg

    2002-08-21

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

  20. IO SUBSYSTEM 1 BETA

    Energy Science and Technology Software Center (ESTSC)

    2002-08-21

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

  1. Applied Beta Dosimetry

    SciTech Connect

    Rich, B.L.

    1986-01-01

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

  2. beta-Chloronaphthalene

    Integrated Risk Information System (IRIS)

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

  3. beta-Propiolactone

    Integrated Risk Information System (IRIS)

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

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

    PubMed

    Simić, Domagoj; Mladenović Drinić, Snezana; Zdunić, Zvonimir; Jambrović, Antun; Ledencan, Tatjana; Brkić, Josip; Brkić, Andrija; Brkić, Ivan

    2012-01-01

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

  5. Beta-2 Microglobulin Tumor Marker

    MedlinePlus

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

  6. Misleading Betas: An Educational Example

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  7. Root traits for infertile soils

    PubMed Central

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

    2013-01-01

    Crop production is often restricted by the availability of essential mineral elements. For example, the availability of N, P, K, and S limits low-input agriculture, the phytoavailability of Fe, Zn, and Cu limits crop production on alkaline and calcareous soils, and P, Mo, Mg, Ca, and K deficiencies, together with proton, Al and Mn toxicities, limit crop production on acid soils. Since essential mineral elements are acquired by the root system, the development of crop genotypes with root traits increasing their acquisition should increase yields on infertile soils. This paper examines root traits likely to improve the acquisition of these elements and observes that, although the efficient acquisition of a particular element requires a specific set of root traits, suites of traits can be identified that benefit the acquisition of a group of mineral elements. Elements can be divided into three Groups based on common trait requirements. Group 1 comprises N, S, K, B, and P. Group 2 comprises Fe, Zn, Cu, Mn, and Ni. Group 3 contains mineral elements that rarely affect crop production. It is argued that breeding for a limited number of distinct root ideotypes, addressing particular combinations of mineral imbalances, should be pursued. PMID:23781228

  8. Masked deficit of vitamin B12 in the patient with heterozygous beta-thalassemia and spastic paraparesis.

    PubMed

    Bilic, Ernest; Bilic, Ervina; Zagar, Marija; Juric, Stjepan

    2004-12-01

    The spinal cord, brain, optic nerves and peripheral nerves may be affected by vitamin B12 (cobalamin) deficiency. Deficiency of vitamin B12 also causes megaloblastic anaemia, meaning that the red blood cells are usually larger than normal. In this paper we report a 16-year old girl who was referred to us for the evaluation of mild paraparesis and paresthesias marked by tingling "pins and needles" feelings and general weakness. The patient, her parents and sisters were on a strict vegan diet, which made us believe that vitamin B12 deficiency may be the possible cause of the neurologic clinical manifestations. The serum level of vitamin B12 was low, but there was no macrocytosis in the routine blood examination. The electrophoresis of haemoglobin was pathologic, there was 3.7% of HbA2 and 11.6% of HbF (heterozygous form of beta-thalassaemia). When megaloblastic anaemia occurs in combination with a condition that gives rise to microcytic anaemia, many megaloblastic features may be masked. Instead of being macrocytic, the anaemia could be normocytic or even microcytic. Vitamin B12 deficiency is a diagnosis that must not be overlooked. This case report turns the light on the fact that increased MCV is a hallmark in vitamin B12 deficiency, but it is not an obligatory sign. PMID:15742609

  9. Personal traits, cohabitation, and marriage.

    PubMed

    French, Michael T; Popovici, Ioana; Robins, Philip K; Homer, Jenny F

    2014-05-01

    This study examines how personal traits affect the likelihood of entering into a cohabitating or marital relationship using a competing risk survival model with cohabitation and marriage as competing outcomes. The data are from Waves 1, 3, and 4 of the National Longitudinal Study of Adolescent Health, a rich dataset with a large sample of young adults (N=9835). A personal traits index is constructed from interviewer-assessed scores on the respondents' physical attractiveness, personality, and grooming. Having a higher score on the personal traits index is associated with a greater hazard of entering into a marital relationship for men and women, but the score does not have a significant influence on entering into a cohabitating relationship. Numerous sensitivity tests support the core findings. PMID:24576635

  10. Beta-thalassemia.

    PubMed

    Galanello, Renzo; Origa, Raffaella

    2010-01-01

    Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis). Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta

  11. Beta-thalassemia

    PubMed Central

    2010-01-01

    Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis). Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta

  12. Measurement of $\\beta_s$ at CDF

    SciTech Connect

    Oakes, Louise; /Oxford U.

    2011-02-01

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

  13. Software for quantitative trait analysis

    PubMed Central

    2005-01-01

    This paper provides a brief overview of software currently available for the genetic analysis of quantitative traits in humans. Programs that implement variance components, Markov Chain Monte Carlo (MCMC), Haseman-Elston (H-E) and penetrance model-based linkage analyses are discussed, as are programs for measured genotype association analyses and quantitative trait transmission disequilibrium tests. The software compared includes LINKAGE, FASTLINK, PAP, SOLAR, SEGPATH, ACT, Mx, MERLIN, GENEHUNTER, Loki, Mendel, SAGE, QTDT and FBAT. Where possible, the paper provides URLs for acquiring these programs through the internet, details of the platforms for which the software is available and the types of analyses performed. PMID:16197737

  14. Thermophilic Beta-Glycosidase

    NASA Technical Reports Server (NTRS)

    Grogan, Dennis W.

    1992-01-01

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

  15. Genetics of reproductive traits: Antagonisms with production traits

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  16. TraitBank: An Open Digital Repository for Organism Traits

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  17. Quantitative trait loci for male reproductive traits in beef cattle.

    PubMed

    Casas, E; Lunstra, D D; Stone, R T

    2004-12-01

    The objective of the present study was to detect quantitative trait loci (QTL) for male reproductive traits in a half-sib family from a Bos indicus (Brahman) x Bos taurus (Hereford) sire. The sire was mated with MARC III (1/4 Hereford, 1/4 Angus, 1/4 Red Poll and 1/4 Pinzgauer) cows. Testicular traits were measured from 126 male offspring born in 1996 and castrated at 8.5 months. Traits analysed were concentration of follicle stimulating hormone in peripheral blood at castration (FSH), paired testicular weight (PTW) and paired testicular volume (PTV) adjusted for age of dam, calculated age at puberty (AGE), and body weight at castration (BYW). A putative QTL was observed for FSH on chromosome 5. The maximum F-statistic was detected at 70 cM from the beginning of the linkage group. Animals inheriting the Hereford allele had a 2.47-ng/ml higher concentration of FSH than those inheriting the Brahman allele. Evidence also suggests the existence of a putative QTL on chromosome 29 for PTW, PTV, AGE and BYW. The maximum F-statistic was detected at cM 44 from the beginning of the linkage group for PTW, PTV and AGE, and at cM 52 for BYW. Animals that inherited the Brahman allele at this chromosomal region had a 45-g heavier PTW, a 42-cm(3) greater PTV, a 39-day younger AGE and a 22.8-kg heavier BYW, compared with those inheriting the Hereford allele. This is the first report of QTL for male reproductive traits in cattle. PMID:15566467

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

    PubMed Central

    Eder, I. E.; Stenzl, A.; Hobisch, A.; Cronauer, M. V.; Bartsch, G.; Klocker, H.

    1997-01-01

    We previously detected elevated transforming growth factor beta-1 (TGF-beta1) serum levels in patients with invasive bladder carcinomas. In this study, we therefore investigated whether elevated serum levels correlate with enhanced TGF-beta expression in human bladder tumours. mRNA levels of TGF-beta1, -beta2 and -beta3 were reduced in bladder tumour tissue to 86%, 68% and 56%, respectively, of the levels in normal urothelium. On the other hand, TGF-beta1 protein levels were found to be higher in superficial tumours (Ta-T1) (mean level of 0.153 ng mg(-1)) and in invasive T2/T3 tumours (mean level of 0.104 ng mg(-1)) compared with normal urothelium (mean level of 0.065 ng mg(-1)). Invasive T4 tumours, however, contained only low amounts of TGF-beta1 (mean level of 0.02 ng mg(-1)). Neither in mean nor in individual patients were serum and tissue TGF-beta levels correlated with each other. Cell culture experiments on primary bladder cells revealed a 57% decrease in TGF-beta1 mRNA levels in tumour compared with normal epithelial cells. Tumour epithelial cells contained about two times higher levels of TGF-beta2 and TGF-beta3 mRNA than normal epithelial cells. Fibroblasts expressed about the same amount of TGF-beta1 or TGF-beta2 as epithelial cells. Yet, fibroblasts released only 19% and 13% of the amount secreted by tumour epithelial cells into the supernatant. TGF-beta3, on the other hand, was expressed by fibroblasts with higher levels than by epithelial cells. TGF-beta1 was the predominent isoform in bladder tissue and cells at protein as well as on mRNA levels indicating that TGFs-beta2 and -beta3 are of minor importance in bladder cancer. In summary, there is a lack of correlation between TGF-beta serum levels and TGF-beta expression in tumour tissue in bladder cancer. Images Figure 1 PMID:9192977

  19. Ecological interactions drive evolutionary loss of traits.

    PubMed

    Ellers, Jacintha; Kiers, E Toby; Currie, Cameron R; McDonald, Bradon R; Visser, Bertanne

    2012-10-01

    Loss of traits can dramatically alter the fate of species. Evidence is rapidly accumulating that the prevalence of trait loss is grossly underestimated. New findings demonstrate that traits can be lost without affecting the external phenotype, provided the lost function is compensated for by species interactions. This is important because trait loss can tighten the ecological relationship between partners, affecting the maintenance of species interactions. Here, we develop a new perspective on so-called `compensated trait loss' and how this type of trait loss may affect the evolutionary dynamics between interacting organisms. We argue that: (1) the frequency of compensated trait loss is currently underestimated because it can go unnoticed as long as ecological interactions are maintained; (2) by analysing known cases of trait loss, specific factors promoting compensated trait loss can be identified and (3) genomic sequencing is a key way forwards in detecting compensated trait loss. We present a comprehensive literature survey showing that compensated trait loss is taxonomically widespread, can involve essential traits, and often occurs as replicated evolutionary events. Despite its hidden nature, compensated trait loss is important in directing evolutionary dynamics of ecological relationships and has the potential to change facultative ecological interactions into obligatory ones. PMID:22747703

  20. Antagonistic coevolution between quantitative and Mendelian traits.

    PubMed

    Yamamichi, Masato; Ellner, Stephen P

    2016-03-30

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

  1. Exaggerated trait growth in insects

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  2. Predicting communities from functional traits.

    PubMed

    Cadotte, Marc W; Arnillas, Carlos A; Livingstone, Stuart W; Yasui, Simone-Louise E

    2015-09-01

    Species traits influence where species live and how they interact. While there have been many advances in describing the functional composition and diversity of communities, only recently do researchers have the ability to predict community composition and diversity. This predictive ability can offer fundamental insights into ecosystem resilience and restoration. PMID:26190136

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

    SciTech Connect

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

    2009-05-04

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

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

    PubMed Central

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

    2015-01-01

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

  5. A trait-based approach for examining microbial community assembly

    NASA Astrophysics Data System (ADS)

    Prest, T. L.; Nemergut, D.

    2015-12-01

    Microorganisms regulate all of Earth's major biogeochemical cycles and an understanding of how microbial communities assemble is a key part in evaluating controls over many types of ecosystem processes. Rapid advances in technology and bioinformatics have led to a better appreciation for the variation in microbial community structure in time and space. Yet, advances in theory are necessary to make sense of these data and allow us to generate unifying hypotheses about the causes and consequences of patterns in microbial biodiversity and what they mean for ecosystem function. Here, I will present a metaanalysis of microbial community assembly from a variety of successional and post-disturbance systems. Our analysis shows various distinct patterns in community assembly, and the potential importance of nutrients and dispersal in shaping microbial community beta diversity in these systems. We also used a trait-based approach to generate hypotheses about the mechanisms driving patterns of microbial community assembly and the implications for function. Our work reveals the importance of rRNA operon copy number as a community aggregated trait in helping to reconcile differences in community dynamics between distinct types of successional and disturbed systems. Specifically, our results demonstrate that decreases in average copy number can be a common feature of communities across various drivers of ecological succession, supporting a transition from an r-selected to a K-selected community. Importantly, our work supports the scaling of the copy number trait over multiple levels of biological organization, from cells to populations and communities, and has implications for both ecology and evolution. Trait-based approaches are an important next step to generate and test hypotheses about the forces structuring microbial communities and the subsequent consequences for ecosystem function.

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

    PubMed

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

    2015-01-01

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

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

    PubMed Central

    Ali, M. A.

    1975-01-01

    Between July 1973 and July 1974 all adult patients with hypochromic anemia and a mean corpuscular volume of 75 mum3 or less were screened for hemoglobinopathies. Of the 490 patients 105 had beta-thalassemia trait, 11 had alpha1-thalassemia trait, 4 had hemoglobin Lepore trait and 1 had hemoglobin H disease. Of 48 inpatients whose charts were reviewed 19 had been on oral iron therapy and 7 of them had been given iron intramuscularly. Of 27 outpatients interviewed 10 had been on intermittent iron therapy for 18 months or more; 4 had been given at least 1 g of intramuscular iron. Iron deficiency was not documented in any of these patients. Iron deficiency should be diagnosed by means other than the presence of a hypochromic picture in the peripheral blood before iron therapy is instituted, particularly in communities with a large population of Mediterranean or South-East Asian origin. PMID:1122440

  8. Trait Affectivity and Nonreferred Adolescent Conduct Problems

    ERIC Educational Resources Information Center

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

    2006-01-01

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

  9. 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...

  10. Personality Traits, Learning and Academic Achievements

    ERIC Educational Resources Information Center

    Jensen, Mikael

    2015-01-01

    There has been an increased interest in personality traits (especially the five-factor model) in relation to education and learning over the last decade. Previous studies have shown a relation between personality traits and learning, and between personality traits and academic achievement. The latter is typically described in terms of Grade Point…

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  12. [Beta blockers in migraine prophylaxis].

    PubMed

    Shimizu, Toshihiko

    2009-10-01

    Beta blockers (beta-adrenoceptor blockers) are known to be used for the prophylactic treatment of migraine. The improvement of migraine in the patients who recieved propranolol for angina pectoris revealed the effectiveness of propranolol in migraine prophylaxis. Many clinical trials have confirmed that propranolol is effective in the prophylactic treatment of migraine. Other beta-blocking drugs, namely nadolol, metoprolol, atenolol, timolol and bisoprolol, have also been demonstrated to be effective in the prophylaxis of migraine. In contrast, several beta blockers with intrinsic sympathetic activity (ISA), such as alprenolol, oxprenolol, pindolol and acebutolol, have not been demonstrated to be effective in migraine prophylaxis. In this review, we have descrived the pharmacologic background and pharmacokinetics of the beta blockers that demonstrated a prophylactic effect for migraine will be described. We have also reviewed the results of clinical trials of beta-blocking drugs for migraine. PMID:19882938

  13. Solergy (Beta Version 1)

    Energy Science and Technology Software Center (ESTSC)

    2009-03-30

    SOLERGY simulates the operation and power output of a user-defined solar central receiver power plant for a time period of up to one year. SOLERGY utilizes recorded or simulated weather data and plant component performance models to calculate the power flowing through each part of the solar plant. A plant control subroutine monitors these powers and determines when to operate the various plant subsystems. The original version of the code was released in May 1987,more » within SAND86-8060 and was widely distributed. The Beta Version 1 to be released in 2009, includes some relatively small modifications to the original code.« less

  14. A different molecular pattern of beta-thalassemia mutations in northeast Brazil.

    PubMed

    Araújo, Aderson S; Silva, l Wilson A Júnior; Leão, Silvana A C; Bandeira, Flavia C G M; Petrou, Mary; Modell, Bernadette; Zago, Marco A

    2003-11-01

    The main hereditary hemoglobin (Hb) disorders of clinical significance in Brazil are sickle cell disease and beta-thalassemia (thal). The sickle gene was introduced by the slave trade, whereas beta-thal was introduced later, due to a massive immigration (mostly by Italians) between 1870 and 1953, mainly to the southeast region of Brazil. Molecular studies performed in the southeast of the country showed a marked prevalence of the nonsense mutation at codon 39 (C --> T) (47-54%), leading to severe forms of beta0-thal. However, the northeast region of the country has a different demographic history, characterized by the absence of the massive Italian immigration. Owing to this and since the majority of cases of beta-thal in Pernambuco, a state located in the northeast of the country, have mild or intermediate clinical and laboratory features, we would predict a different spectrum of beta-thal mutations in this region. We examined 60 unrelated patients (86 beta-thal chromosomes) under regular clinical follow-up in Pernambuco: 6 were regularly transfused beta-thal major subjects, 20 had beta-thal intermedia, 20 had Hb S/beta-thal and 14 were beta-thal trait individuals. The following mutations were found: IVS-I-6 (T --> C) 62.8%, IVS-I-1 (G -->A) 15.1%, IVS-I-5 (G --> C) 9.3%, IVS-I-110 (G --> A) 8.2%, codon 39 (C --> T) 3.5%, and codon 30 (AGG --> AGC) 1.1%. These data show different patterns of beta-thal mutations in two regions of Brazil, demonstrating a thus far unrevealed heterogeneity of the disease in the country. PMID:14649311

  15. Simultaneous beta and gamma spectroscopy

    DOEpatents

    Farsoni, Abdollah T.; Hamby, David M.

    2010-03-23

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

  16. Plant traits determine forest flammability

    NASA Astrophysics Data System (ADS)

    Zylstra, Philip; Bradstock, Ross

    2016-04-01

    Carbon and nutrient cycles in forest ecosystems are influenced by their inherent flammability - a property determined by the traits of the component plant species that form the fuel and influence the micro climate of a fire. In the absence of a model capable of explaining the complexity of such a system however, flammability is frequently represented by simple metrics such as surface fuel load. The implications of modelling fire - flammability feedbacks using surface fuel load were examined and compared to a biophysical, mechanistic model (Forest Flammability Model) that incorporates the influence of structural plant traits (e.g. crown shape and spacing) and leaf traits (e.g. thickness, dimensions and moisture). Fuels burn with values of combustibility modelled from leaf traits, transferring convective heat along vectors defined by flame angle and with plume temperatures that decrease with distance from the flame. Flames are re-calculated in one-second time-steps, with new leaves within the plant, neighbouring plants or higher strata ignited when the modelled time to ignition is reached, and other leaves extinguishing when their modelled flame duration is exceeded. The relative influence of surface fuels, vegetation structure and plant leaf traits were examined by comparing flame heights modelled using three treatments that successively added these components within the FFM. Validation was performed across a diverse range of eucalypt forests burnt under widely varying conditions during a forest fire in the Brindabella Ranges west of Canberra (ACT) in 2003. Flame heights ranged from 10 cm to more than 20 m, with an average of 4 m. When modelled from surface fuels alone, flame heights were on average 1.5m smaller than observed values, and were predicted within the error range 28% of the time. The addition of plant structure produced predicted flame heights that were on average 1.5m larger than observed, but were correct 53% of the time. The over-prediction in this

  17. Amyloid Beta Mediates Memory Formation

    ERIC Educational Resources Information Center

    Garcia-Osta, Ana; Alberini, Cristina M.

    2009-01-01

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

  18. Anaemia in pregnant Ghanaian women: importance of malaria, iron deficiency, and haemoglobinopathies.

    PubMed

    Mockenhaupt, F P; Rong, B; Günther, M; Beck, S; Till, H; Kohne, E; Thompson, W N; Bienzle, U

    2000-01-01

    In sub-Saharan Africa, anaemia in pregnancy results from multiple causes including malaria, iron deficiency and haemoglobinopathies. In a cross-sectional study among 530 pregnant women in Ghana in November-December 1998, red blood cell indices were analysed with respect to malaria, serum concentrations of ferritin and C-reactive protein (CRP), and the haemoglobin and alpha-globin genotypes. Anaemia (haemoglobin [Hb] < 11 g/dL) was found in 54% of the women; 63% harboured malaria parasites at predominantly low numbers. Ferritin levels were considerably influenced by malaria and inflammatory processes (CRP > 0.6 mg/dL). Depending on the definition applied, the prevalence of iron deficiency ranged between 5% and 46%. The HbAS trait was observed in 14%, HbAC and elevated HbF in 7% each, and sickle cell disease in 1%. Heterozygous beta-thalassaemia was present in 1% of the women and alpha(+)-thalassaemia in 33% (29% heterozygous, 4% homozygous). Women with HbAS had higher malaria parasite densities than those with HbAA. In individuals with highly elevated HbF (> 10%), parasitaemia occurred in 27% only. Low gravidity, second trimester of pregnancy, malaria, raised CRP levels, and homozygous alpha(+)-thalassaemia were independent risk factors for anaemia in multivariate analysis. alpha(+)-Thalassaemia, however, was associated with a lesser degree of malarial anaemia when compared to non-thalassaemic women. Iron deficiency appears not to be a major health problem in this population. Haemoglobinopathies are common but, except for homozygous alpha(+)-thalassaemia, do not substantially contribute to anaemia in pregnancy. alpha(+)-Thalassaemia ameliorates malarial anaemia in pregnant women. PMID:11132370

  19. Neutrinoless Double Beta Decay

    NASA Astrophysics Data System (ADS)

    Cremonesi, Oliviero

    2016-05-01

    After more than 3/4 of century from its proposal, Neutrinoless Double Beta Decay (NLDBD) is still missing observation and continues to represent the only practical method for investigating the Dirac/Majorana nature of neutrinos. In case neutrinos would be Majorana particles, NLDBD would provide unique informations on their properties (absolute mass scale and Majorana phases). Boosted by the discovery of neutrino oscillations, a number of experiments with improved sensitivity have been proposed in the past decade. Some of them have recently started operation and others are ready to start. They will push the experimental sensitivity on the decay halflife beyond 1026 year, starting to analyze the region of the inverted mass hierarchy. The status and perspectives of the ongoing experimental effort are reviewed. Uncertainties coming from the calculation othe decay nuclear matrix elements (NME) as well as the recently suggested possibility of a relevant quenching of the axial coupling constant are also discussed.

  20. Beta systems error analysis

    NASA Technical Reports Server (NTRS)

    1984-01-01

    The atmospheric backscatter coefficient, beta, measured with an airborne CO Laser Doppler Velocimeter (LDV) system operating in a continuous wave, focussed model is discussed. The Single Particle Mode (SPM) algorithm, was developed from concept through analysis of an extensive amount of data obtained with the system on board a NASA aircraft. The SPM algorithm is intended to be employed in situations where one particle at a time appears in the sensitive volume of the LDV. In addition to giving the backscatter coefficient, the SPM algorithm also produces as intermediate results the aerosol density and the aerosol backscatter cross section distribution. A second method, which measures only the atmospheric backscatter coefficient, is called the Volume Mode (VM) and was simultaneously employed. The results of these two methods differed by slightly less than an order of magnitude. The measurement uncertainties or other errors in the results of the two methods are examined.

  1. Predicting neutrinoless double beta decay

    SciTech Connect

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

    2005-11-01

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

  2. Identification of ISSR markers associated with productivity traits in silkworm, Bombyx moni L.

    PubMed

    Chatterjee, S N; Mohandas, T P

    2003-06-01

    Bombyx mori L., commonly recognised around the world as the mulberry silkworm, is characterized by a wide variability in yield and developmental traits, which have been proven through conventional genetic analysis to be of polygenic nature. A large number of morpho-biochemical traits and RFLP and RAPD markers are mapped on different linkage groups, but to this point very little attention has been given to unravelling the genetics of yield traits. To address this issue, polymorphic profiles of 147 markers generated with 12 ISSR primers on the genomic DNA of 20 silkworm stocks of diverse yield status were subjected to multiple regression and discriminant function analyses (DFA). This led to the identification of eight markers generated by six primers, which demonstrated high beta-coefficient indices of -0.451 to -0.940. Furthermore, a significant difference between the yield traits for stocks with and without the specific marker could also be established. The inheritance pattern of one marker, L13800bp, identified at the first step of selection of markers through stepwise regression analyses for five yield parameters is discussed in the context of applying multiple regression analysis for establishing association, if not linkage, between a group of DNA markers and a particular yield trait of polygenic nature and using such markers in molecular marker-assisted breeding programs. PMID:12834060

  3. Trait-based tests of coexistence mechanisms.

    PubMed

    Adler, Peter B; Fajardo, Alex; Kleinhesselink, Andrew R; Kraft, Nathan J B

    2013-10-01

    Recent functional trait studies have shown that trait differences may favour certain species (environmental filtering) while simultaneously preventing competitive exclusion (niche partitioning). However, phenomenological trait-dispersion analyses do not identify the mechanisms that generate niche partitioning, preventing trait-based prediction of future changes in biodiversity. We argue that such predictions require linking functional traits with recognised coexistence mechanisms involving spatial or temporal environmental heterogeneity, resource partitioning and natural enemies. We first demonstrate the limitations of phenomenological approaches using simulations, and then (1) propose trait-based tests of coexistence, (2) generate hypotheses about which plant functional traits are likely to interact with particular mechanisms and (3) review the literature for evidence for these hypotheses. Theory and data suggest that all four classes of coexistence mechanisms could act on functional trait variation, but some mechanisms will be stronger and more widespread than others. The highest priority for future research is studies of interactions between environmental heterogeneity and trait variation that measure environmental variables at within-community scales and quantify species' responses to the environment in the absence of competition. Evidence that similar trait-based coexistence mechanisms operate in many ecosystems would simplify biodiversity forecasting and represent a rare victory for generality over contingency in community ecology. PMID:23910482

  4. High Temperature Stability of Potassium Beta Alumina

    NASA Technical Reports Server (NTRS)

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

    1996-01-01

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

  5. Trait anxiety and trait anger measured by ecological momentary assessment and their correspondence with traditional trait questionnaires

    PubMed Central

    Edmondson, Donald; Shaffer, Jonathan A.; Chaplin, William F.; Burg, Matthew M.; Stone, Arthur A.; Schwartz, Joseph E.

    2013-01-01

    Ecological momentary assessments (EMA) of anxiety and anger/hostility were obtained every 25–30 minutes over two 24-hour periods, separated by a median of 6 months, from 165 employees at a university in the Northeast. We used a multilevel trait-state-error structural equation model to estimate: (1) the proportion of variance in EMA anxiety and anger/hostility attributable to stable trait-like individual differences; (2) the correspondence between these trait-like components of EMA anxiety and anger/hostility and traditional questionnaire measures of each construct; and (3) the test-retest correlation between two 24-hour averages obtained several months apart. After adjustment for measurement error, more than half the total variance in EMA reports of anxiety and anger/hostility is attributable to stable trait-like individual differences; however, the trait-like component of each construct is only modestly correlated with questionnaire measures of that construct. The 6-month “test-retest” correlations of latent variables representing the true 24-hour EMA average anxiety and average anger are quite high (r ≥ 0.83). This study represents the longest follow-up period over which EMA-based estimates of traits have been examined. The results suggest that although the trait component (individual differences) of EMA momentary ratings of anxiety and anger is larger than the state component, traditional self-report questionnaires of trait anxiety and anger correspond only weakly with EMA-defined traits. PMID:24198441

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

    PubMed Central

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

    2014-01-01

    Introduction Sideroblastic cardiomyopathy secondary to repeated blood transfusions is a feared complication in thalassaemia. Control of myocardial iron is thus becoming the cornerstone of thalassaemia management. Recent evidence suggests a role for L-type Ca2+ channels in mediating iron uptake by the heart. Blocking the cellular iron uptake through these channels may add to the benefit of therapy to standard chelation in reducing myocardial iron. We aim to determine the efficacy of amlodipine (a calcium channel blocker) as an adjunct to standard aggressive chelation in retarding myocardial iron deposition in thalassaemics with or without cardiomyopathy. Outcomes The primary outcome is to compare the efficacy of amlodipine+chelation (intervention) versus standard chelation (control) in retarding myocardial iron deposition. Secondary outcomes include the effect of amlodipine therapy on systolic and diastolic function, strain and strain rate and liver iron content. Methods and analysis This is a single-centre, parallel-group, prospective randomised control trial. Twenty patients will be randomised in a 1:1 allocation ratio into the intervention and control arms. In addition to conventional echocardiography, MRI T2* values for assessment of cardiac and liver iron load will be obtained at baseline and at 6 and 12 months. Cardiac T2* will be reported as the geometric mean and per cent coefficient of variation, and an increase in cardiac T2* values from baseline will be used as an end point to compare the efficacy of therapy. A p Value of <0.05 will be considered significant. Study setting Department of Pediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan. Ethics and dissemination This study has been approved by the Ethics Review Committee and Clinical Trials Unit at The Aga Khan University with respect to scientific content and compliance with applicable research and human subjects regulations. Findings will be reported through scientific

  7. Quantitative trait loci pyramiding for fruit quality traits in tomato.

    PubMed

    Sacco, Adriana; Di Matteo, Antonio; Lombardi, Nadia; Trotta, Nikita; Punzo, Biancavaleria; Mari, Angela; Barone, Amalia

    2013-01-01

    Fruit quality is a major focus for most conventional and innovative tomato breeding strategies, with particular attention being paid to fruit antioxidant compounds. Tomatoes represent a major contribution to dietary nutrition worldwide and a reservoir of diverse antioxidant molecules. In a previous study, we identified two Solanum pennellii introgression lines (IL7-3 and IL12-4) harbouring quantitative trait loci (QTL) that increase the content of ascorbic acid (AsA), phenols and soluble solids (degrees Brix; °Bx) in tomato fruit. The purpose of the present work was to pyramid into cultivated varieties the selected QTL for enhanced antioxidant and °Bx content. To better understand the genetic architecture of each QTL, the two ILs were crossed to the recurrent parent M82 (ILH7-3 and ILH12-4) and between them (ILH7-3+12-4). F1 hybrids (ILH7-3+12-4) were then selfed up to obtain F3 progenies in order to stabilize the favourable traits at the homozygous condition. Species-specific molecular markers were identified for each introgressed region and allowed us to select four F2 genotypes carrying both introgressions at the homozygous condition. The F3 double homozygous plants displayed AsA, total phenols and °Bx content significantly higher than M82. Therefore, they may represent suitable genetic material for breeding schemes aiming to increase antioxidant content in tomato fruit. PMID:23316114

  8. The stay-green trait.

    PubMed

    Thomas, Howard; Ougham, Helen

    2014-07-01

    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

  9. Mammalian mitochondrial beta-oxidation.

    PubMed Central

    Eaton, S; Bartlett, K; Pourfarzam, M

    1996-01-01

    The enzymic stages of mammalian mitochondrial beta-oxidation were elucidated some 30-40 years ago. However, the discovery of a membrane-associated multifunctional enzyme of beta-oxidation, a membrane-associated acyl-CoA dehydrogenase and characterization of the carnitine palmitoyl transferase system at the protein and at the genetic level has demonstrated that the enzymes of the system itself are incompletely understood. Deficiencies of many of the enzymes have been recognized as important causes of disease. In addition, the study of these disorders has led to a greater understanding of the molecular mechanism of beta-oxidation and the import, processing and assembly of the beta-oxidation enzymes within the mitochondrion. The tissue-specific regulation, intramitochondrial control and supramolecular organization of the pathway is becoming better understood as sensitive analytical and molecular techniques are applied. This review aims to cover enzymological and organizational aspects of mitochondrial beta-oxidation together with the biochemical aspects of inherited disorders of beta-oxidation and the intrinsic control of beta-oxidation. PMID:8973539

  10. Effect of beta blockade and beta stimulation on stage fright.

    PubMed

    Brantigan, C O; Brantigan, T A; Joseph, N

    1982-01-01

    Stage fright, physiologically the "fight or flight" reaction, is a disabling condition to the professional musician. Because it is mediated by the sympathetic nervous system, we have investigated the effects of beta blockade on musical performance with propranolol in a double blind fashion and the effects of beta stimulation using terbutaline. Stage fright symptoms were evaluated in two trials, which included a total of 29 subjects, by questionnaire and by the State Trai Anxiety Inventory. Quality of musical performance was evaluated by experienced music critics. Beta blockade eliminates the physical impediments to performance caused by stage fright and even eliminates the dry mouth so frequently encountered. The quality of musical performance as judged by experienced music critics is significantly improved. This effect is achieved without tranquilization. Beta stimulating drugs increase stage fright problems, and should be used in performing musicians only after consideration of the detrimental effects which they may have on musical performance. PMID:6120650

  11. Variants of beta-glucosidases

    DOEpatents

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

    2008-08-19

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

  12. Variants of beta-glucosidase

    SciTech Connect

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

    2015-07-14

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

  13. Variants of beta-glucosidases

    SciTech Connect

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

    2014-10-07

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

  14. Variants of beta-glucosidase

    DOEpatents

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

    2009-12-29

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

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

    PubMed Central

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

    2010-01-01

    The present study examined whether trait anxiety and trait anger are associated with vulnerability to emotional eating, particularly among obese individuals. Lean (n=37) and obese (n=24) participants engaged in a laboratory study where they completed measures of trait anxiety and trait anger at screening and then completed 3 counterbalanced experimental sessions involving different mood inductions (neutral, anxiety, anger). Following each mood induction, participants were provided with snack foods in a sham taste test. Models predicting snack intake revealed a significant trait anxiety × body mass index group interaction, such that high trait anxiety was positively associated with food intake for obese individuals, but not their lean counterparts. Contrary to the hypothesis, trait anger was not associated with food intake for obese or lean participants. Results suggest that trait anxiety may be a risk factor for emotional eating among obese individuals. PMID:20959131

  16. Questions Students Ask: Beta Decay.

    ERIC Educational Resources Information Center

    Koss, Jordan; Hartt, Kenneth

    1988-01-01

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

  17. Interferon Beta-1b Injection

    MedlinePlus

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

  18. Peginterferon Beta-1a Injection

    MedlinePlus

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

  19. Genetics Home Reference: beta thalassemia

    MedlinePlus

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

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

    PubMed

    Kim, Han-Na; Cho, Juhee; Chang, Yoosoo; Ryu, Seungho; Shin, Hocheol; Kim, Hyung-Lae

    2015-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  2. Personality Traits and Successful Aging: Findings From the Georgia Centenarian Study.

    PubMed

    Baek, Yousun; Martin, Peter; Siegler, Ilene C; Davey, Adam; Poon, Leonard W

    2016-09-01

    The current study attempted to describe how personality traits of older adults are associated with components of successful aging (cognition, volunteering, activities of daily living, and subjective health). Three-hundred and six octogenarians and centenarians who participated in the third phase of the Georgia Centenarian Study provided data for this study. Factor analysis was conducted to test the existence of two higher-order factors of the Big Five personality traits, and a two-factor model (alpha and beta) fit the data well. Also, blocked multiple regression analysis was conducted to examine the association between personality traits and four components of successful aging. Results indicated that low scores on neuroticism and high scores on extraversion, openness to experience, agreeableness, and conscientiousness are significantly related to the components of successful aging. After controlling for demographic variables (age, gender, residential type, and race/ethnicity), alpha (i.e., emotional stability, agreeableness, and conscientiousness) was associated with higher levels of cognition, higher likelihood of engaging in volunteer work, higher levels of activities of daily living, and higher levels of subjective health. Beta (i.e., extraversion and openness to experience) was also positively associated with cognition and engaging in volunteer work. PMID:27298487

  3. Single nucleotide polymorphisms linked to quantitative trait loci for grain quality traits in wheat

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Wheat (Triticum aestivum L.) grain quality traits that are controlled by quantitative traits loci (QTLs) define suitable growing areas and potential end-use products of a wheat cultivar. To dissect the QTLs for these traits including protein content (GPC), test weight (TW), single kernel characteriz...

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  6. Beta function and anomalous dimensions

    SciTech Connect

    Pica, Claudio; Sannino, Francesco

    2011-06-01

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

  7. Medium Beta Superconducting Accelerating Structures

    SciTech Connect

    Jean Delayen

    2001-09-01

    While, originally, the development of superconducting structures was cleanly divided between low-beta resonators for heavy ions and beta=1 resonators for electrons, recent interest in protons accelerators (high and low current, pulsed and cw) has necessitated the development of structures that bridge the gap between the two. These activities have resulted both in new geometries and in the adaptation of well-known geometries optimized to this intermediate velocity range. Their characteristics and properties are reviewed.

  8. Physics with Beta-Beam

    SciTech Connect

    Agarwalla, Sanjib Kumar; Choubey, Sandhya; Raychaudhuri, Amitava

    2008-02-21

    A Beta-beam would be a high intensity source of pure {nu}{sub e} and/or {nu}-bar{sub e} flux with known spectrum, ideal for precision measurements. Myriad of possible set-ups with suitable choices of baselines, detectors and the beta-beam neutrino source with desired energies have been put forth in the literature. In this talk we present a comparitive discussion of the physics reach of a few such experimental set-ups.

  9. Relating Stomatal Conductance to Leaf Functional Traits

    PubMed Central

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

    2015-01-01

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

  10. A functional trait perspective on plant invasion

    PubMed Central

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

    2012-01-01

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

  11. Apollo applications of beta fiber glass

    NASA Technical Reports Server (NTRS)

    Naimer, J.

    1971-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  13. [Serum beta 2 microglobulin (beta 2M) following renal transplantation].

    PubMed

    Pacheco-Silva, A; Nishida, S K; Silva, M S; Ramos, O L; Azjen, H; Pereira, A B

    1994-01-01

    Although there was an important improvement in graft and patient survival the last 10 years, graft rejection continues to be a major barrier to the success of renal transplantation. Identification of a laboratory test that could help to diagnose graft rejection would facilitate the management of renal transplanted patients. PURPOSE--To evaluate the utility of monitoring serum beta 2M in recently transplanted patients. METHODS--We daily determined serum beta 2M levels in 20 receptors of renal grafts (10 from living related and 10 from cadaveric donors) and compared them to their clinical and laboratory evolution. RESULTS--Eight patients who presented immediate good renal function following grafting and did not have rejection had a mean serum beta 2M of 3.7 mg/L on the 4th day post transplant. The sensitivity of the test for the diagnosis of acute rejection was 87.5%, but the specificity was only 46%. Patients who presented acute tubular necrosis (ATN) without rejection had a progressive decrease in their serum levels of beta 2M, while their serum creatinine changed as they were dialyzed. In contrast, patients with ATN and concomitance of acute rejection or CSA nephrotoxicity presented elevated beta 2M and creatinine serum levels. CONCLUSION--Daily monitoring of serum beta 2M does not improve the ability to diagnose acute rejection in patients with good renal function. However, serum beta 2M levels seemed to be useful in diagnosing acute rejection or CSA nephrotoxicity in patients with ATN. PMID:7787867

  14. Motivational Traits of Elite Young Soccer Players

    ERIC Educational Resources Information Center

    Stewart, Craig; Meyers, Michael C.

    2004-01-01

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

  15. Genetic Architecture of Complex Traits in Plants

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  16. Biological and ecological traits of marine species

    PubMed Central

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

    2015-01-01

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

  17. Genetic Dissection of Bioenergy Traits in Sorghum

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  18. Trait-Based Perspectives of Leadership

    ERIC Educational Resources Information Center

    Zaccaro, Stephen J.

    2007-01-01

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

  19. Hierarchical Latent Trait Approach in Test Analysis.

    ERIC Educational Resources Information Center

    Dimitrov, Dimiter M.

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

  20. Beneficial trait stability in entomopathogenic nematodes

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  1. Sickle Cell Trait, Exercise, and Altitude.

    ERIC Educational Resources Information Center

    Eichner, Edward R.

    1986-01-01

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

  2. Freshwater Biological Traits Database (Final Report)

    EPA Science Inventory

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

  3. Blue & C--Personality Traits of Leaders

    ERIC Educational Resources Information Center

    Freeman, Virgil

    2009-01-01

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

  4. A Multicomponent Latent Trait Model for Diagnosis

    ERIC Educational Resources Information Center

    Embretson, Susan E.; Yang, Xiangdong

    2013-01-01

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

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

    PubMed

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

    2013-01-01

    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

  6. Beta-lactamase genes of the penicillin-susceptible Bacillus anthracis Sterne strain.

    PubMed

    Chen, Yahua; Succi, Janice; Tenover, Fred C; Koehler, Theresa M

    2003-02-01

    Susceptibility to penicillin and other beta-lactam-containing compounds is a common trait of Bacillus anthracis. Beta-lactam agents, particularly penicillin, have been used worldwide to treat anthrax in humans. Nonetheless, surveys of clinical and soil-derived strains reveal penicillin G resistance in 2 to 16% of isolates tested. Bacterial resistance to beta-lactam agents is often mediated by production of one or more types of beta-lactamases that hydrolyze the beta-lactam ring, inactivating the antimicrobial agent. Here, we report the presence of two beta-lactamase (bla) genes in the penicillin-susceptible Sterne strain of B. anthracis. We identified bla1 by functional cloning with Escherichia coli. bla1 is a 927-nucleotide (nt) gene predicted to encode a protein with 93.8% identity to the type I beta-lactamase gene of Bacillus cereus. A second gene, bla2, was identified by searching the unfinished B. anthracis chromosome sequence database of The Institute for Genome Research for open reading frames (ORFs) predicted to encode beta-lactamases. We found a partial ORF predicted to encode a protein with significant similarity to the carboxy-terminal end of the type II beta-lactamase of B. cereus. DNA adjacent to the 5' end of the partial ORF was cloned using inverse PCR. bla2 is a 768-nt gene predicted to encode a protein with 92% identity to the B. cereus type II enzyme. The bla1 and bla2 genes confer ampicillin resistance to E. coli and Bacillus subtilis when cloned individually in these species. The MICs of various antimicrobial agents for the E. coli clones indicate that the two beta-lactamase genes confer different susceptibility profiles to E. coli; bla1 is a penicillinase, while bla2 appears to be a cephalosporinase. The beta-galactosidase activities of B. cereus group species harboring bla promoter-lacZ transcriptional fusions indicate that bla1 is poorly transcribed in B. anthracis, B. cereus, and B. thuringiensis. The bla2 gene is strongly expressed in B

  7. Bacteriocin Production: a Probiotic Trait?

    PubMed Central

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

    2012-01-01

    Bacteriocins are an abundant and diverse group of ribosomally synthesized antimicrobial peptides produced by bacteria and archaea. Traditionally, bacteriocin production has been considered an important trait in the selection of probiotic strains, but until recently, few studies have definitively demonstrated the impact of bacteriocin production on the ability of a strain to compete within complex microbial communities and/or positively influence the health of the host. Although research in this area is still in its infancy, there is intriguing evidence to suggest that bacteriocins may function in a number of ways within the gastrointestinal tract. Bacteriocins may facilitate the introduction of a producer into an established niche, directly inhibit the invasion of competing strains or pathogens, or modulate the composition of the microbiota and influence the host immune system. Here we review the role of bacteriocin production in complex microbial communities and their potential to enhance human health. PMID:22038602

  8. High beta plasmas in the PBX tokamak

    SciTech Connect

    Bol, K.; Buchenauer, D.; Chance, M.; Couture, P.; Fishman, H.; Fonck, R.; Gammel, G.; Grek, B.; Ida, K.; Itami, K.

    1986-04-01

    Bean-shaped configurations favorable for high ..beta.. discharges have been investigated in the Princeton Beta Experiment (PBX) tokamak. Strongly indented bean-shaped plasmas have been successfully formed, and beta values of over 5% have been obtained with 5 MW of injected neutral beam power. These high beta discharges still lie in the first stability regime for ballooning modes, and MHD stability analysis implicates the external kink as responsible for the present ..beta.. limit.

  9. Cultural traits as units of analysis

    PubMed Central

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

    2010-01-01

    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

  10. Speed-Mapping Quantitative Trait Loci Using Microarrays

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Determining the genetic architecture of complex traits is important for human health, agriculture, and understanding adaptive evolution, but is challenging because high resolution quantitative trait locus (QTL) mapping requires evaluation of thousands of recombinant individuals for the trait and clo...