Fractal spectra in generalized Fibonacci one-dimensional magnonic quasicrystals

AbstractIn this work we carry out a theoretical analysis of the spectra of magnons in quasiperiodic magnonic crystals arranged in accordance with generalized Fibonacci sequences in the exchange regime, by using a model based on a transfer-matrix method together random-phase approximation (RPA). The generalized Fibonacci sequences are characterized by an irrational parameter σ(p,q), which rules the physical properties of the system. We discussed the magnonic fractal spectra for first three generalizations, i.e., silver, bronze and nickel mean. By varying the generation number, we have found that the fragmentation process of allowed bands makes possible the emergence of new allowed magnonic bulk bands in spectra regions that were magnonic band gaps before, such as which occurs in doped semiconductor devices. This interesting property arises in one-dimensional magnonic quasicrystals fabricated in accordance to quasiperiodic sequences, without the need to introduce some deferent atomic layer or defect in the system. We also make a qualitative and quantitative investigations on these magnonic spectra by analyzing the distribution and magnitude of allowed bulk bands in function of the generalized Fibonacci number Fn and as well as how they scale as a function of the number of generations of the sequences, respectively

Molecular identification of Sicilian (deltaß)º-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil

We describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (deltaß)º-thalassemia with hemoglobin S and ß-thalassemia. Direct sequencing of the ß-globin gene showed only the hemoglobin S mutation in patient 1 and the ß-thalassemia IVS1-110 in patient 2. The other allele was deleted in both patients and PCR of DNA samples of the breakpoint region of both patients showed a band of approximately 1,150 bp, expected to be observed in the DNA of carriers of Sicilian (deltaß)º-thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(deltaß)º-thalassemia association and patient 2 is the first reported case of Sicilian type of (deltaß)º-thalassemia in association with ß-thalassemia documented at the molecular level.87387

The Genetics Of Blood Disorders: Hereditary Hemoglobinopathies

Objective: To summarize recently published data on the pathophysiology, diagnosis and treatment of sickle cell diseases and β-Thalassemias, the most relevant hereditary hemoglobinopathies in the global population. Sources: Searches were run on the MEDLINE and SCIELO databases, limited to the period from 2003 to May 2008, using the terms hereditary hemoglobinopathies, sickle cell diseases and β-thalassemia. Two books and two chapters were also included. Summary of the findings: More than 2,000 articles were identified; those providing the most important information and broadest views were selected. Conclusions: Morbidity and mortality rates from sickle cell diseases and β-thalassemia are still very high and represent an important challenge. Increased understanding of pathophysiological aspects has lead to significant improvements in treatment and prevention of these diseases. Copyright © 2008 by Sociedade Brasileira de Pediatria.844 SUPPL.S40S51Steiner, L.A., Gallagher, P.G., Erythrocyte disorders in the perinatal period (2007) Semin Perinatol, 31, pp. 254-261Tolentino, K., Friedman, J.F., An update on anemia in less developed countries (2007) Am J Trop Med Hyg, 77, pp. 44-51(2004) Wintrobe's clinical hematology, , Wintrobe MM, Foerster J, editors, 11th ed. Philadelphia: Lippincott Williams & Wilkins;Dhaliwal, G., Cornett, P.A., Tierney Jr., L.M., Hemolytic anemia (2004) Am Fam Physician, 69, pp. 2599-2606Madigan, C., Malik, P., Pathophysiology and therapy for haemoglobinopathies. Part I: Sickle cell disease (2006) Expert Rev Mol Med, 8, pp. 1-23Urbinati, F., Madigan, C., Malik, P., Pathophysiology and therapy for haemoglobinopathies. Part II: Thalassaemias (2006) Expert Rev Mol Med, 8, pp. 1-26Old, J.M., Screening and genetic diagnosis of haemoglobinopathies (2007) Scand J Clin Lab Invest, 67, pp. 71-86Khattab, A.D., Rawlings, B., Ali, I.S., Care of patients with haemoglobin abnormalities: History and biology (2006) Br J Nurs, 15, pp. 994-998Theodorsson, E., Birgens, H., Hagve, T.A., Haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in a Scandinavian perspective (2007) Scand J Clin Lab Invest, 67, pp. 3-10Morris, C.R., Singer, S.T., Walters, M.C., Clinical hemoglobinopathies: Iron, lungs and new blood (2006) Curr Opin Hematol, 13, pp. 407-418(2004) Hematologia: Fundamentos e prática, , Zago MA, Falcão RP, Pasquini R, editors, São Paulo: Atheneu;Costa, F.F., Sonati, M.F., Hemoglobina: Estrutura, síntese e transporte de oxigênio (2007) Hemoterapia: Fundamentos e prática, pp. 27-33. , Covas DT, Langhi Júnior DM, Bordin JO, editors, São Paulo: Atheneu;Wenning, M.R., Sonati, M.F., Hemoglobinopatias hereditárias (2007) Diagnóstico e tratamento, pp. 310-314. , Lopes AC, editor, São Paulo: Manole;Vekilov, P.G., Sickle-cell haemoglobin polymerization: Is it the primary pathogenic event of sickle-cell anaemia? (2007) Br J Haematol, 139, pp. 173-184Tefferi, A., Clinical, genetic, and therapeutic insights into systemic mast cell disease (2004) Curr Opin Hematol, 11, pp. 58-64Catlin, A.J., Thalassemia: The facts and the controversies (2003) Pediatr Nurs, 29, pp. 447-449Thein, S.L., Genetic insights into the clinical diversity of beta thalassaemia (2004) Br J Haematol, 124, pp. 264-274Shah, A., Thalassemia syndromes (2004) Indian J Med Sci, 58, pp. 445-449Williams, T.N., Human red blood cell polymorphisms and malaria (2006) Curr Opin Microbiol, 9, pp. 388-394Williams, T.N., Red blood cell defects and malaria (2006) Mol Biochem Parasitol, 149, pp. 121-127Frenette, P.S., Atweh, G.F., Sickle cell disease: Old discoveries, new concepts, and future promise (2007) J Clin Invest, 117, pp. 850-858Di Nuzzo, D.V., Fonseca, S.F., Sickle cell disease and infection] (2004) J Pediatr (Rio J), 80, pp. 347-354Lyra, I.M., Gonçalves, M.S., Braga, J.A., MdeF, G., Carvalho, M.H., Saad, S.T., Clinical, hematological, and molecular characterization of sickle cell anemia pediatric patients from two different cities in Brazil (2005) Cad Saude Publica, 21, pp. 1287-1290Lima, C.S., Rocha, E.M., Silva, N.M., Sonatti, M.F., Costa, F.F., Saad, S.T., Risk factors for conjunctival and retinal vessel alterations in sickle cell disease (2006) Acta Ophthalmol Scand, 84, pp. 234-241Adams, R.J., Big strokes in small persons (2007) Arch Neurol, 64, pp. 1567-1574Brittain, J.E., Parise, L.V., Cytokines and plasma factors in sickle cell disease (2007) Curr Opin Hematol, 14, pp. 438-443Seidman, C., Kirkham, F., Pavlakis, S., Pediatric stroke: Current developments (2007) Curr Opin Pediatr, 19, pp. 657-662Traina, F., Jorge, S.G., Yamanaka, A., de Meirelles, L.R., Costa, F.F., Saad, S.T., Chronic liver abnormalities in sickle cell disease: A clinicopathological study in 70 living patients (2007) Acta Haematol, 118, pp. 129-135Wong, W.Y., Powars, D.R., Overt and incomplete (silent) cerebral infarction in sickle cell anemia: Diagnosis and management (2007) Neuroimaging Clin N Am, 17, pp. 269-280Creary, M., Williamson, D., Kulkarni, R., Sickle cell disease: Current activities, public health implications, and future directions (2007) J Womens Health (Larchmt), 16, pp. 575-582Castro, O., Hoque, M., Brown, B.D., Pulmonary hypertension in sickle cell disease: Cardiac catheterization results and survival (2003) Blood, 101, pp. 1257-1261Ataga, K.I., Sood, N., De Gent, G., Kelly, E., Henderson, A.G., Jones, S., Pulmonary hypertension in sickle cell disease (2004) Am J Med, 117, pp. 665-669Machado, R.F., Gladwin, M.T., Chronic sickle cell lung disease: New insights into the diagnosis, pathogenesis and treatment of pulmonary hypertension (2005) Br J Haematol, 129, pp. 449-464Morris, C.R., Kato, G.J., Poljakovic, M., Wang, X., Blackwelder, W.C., Sachdev, V., Dysregulated arginine metabolism, hemolysis-associated pulmonary hypertension, and mortality in sickle cell disease (2005) JAMA, 294, pp. 81-90Kato, G.J., Onyekwere, O.C., Gladwin, M.T., Pulmonary hypertension in sickle cell disease: Relevance to children (2007) Pediatr Hematol Oncol, 24, pp. 159-170Barnett, C.F., Hsue, P.Y., Machado, R.F., Pulmonary hypertension: An increasingly recognized complication of hereditary hemolytic anemias and HIV infection (2008) JAMA, 299, pp. 324-331Claster, S., Vichinsky, E.P., Managing sickle cell disease (2003) BMJ, 327, pp. 1151-1155Berry, P.A., Cross, T.J., Thein, S.L., Portmann, B.C., Wendon, J.A., Karani, J.B., Hepatic dysfunction in sickle cell disease: A new system of classification based on global assessment (2007) Clin Gastroenterol Hepatol, 5, pp. 1469-1476Adorno, E.V., Couto, F.D., Moura Neto, J.P., Menezes, J.F., Rêgo, M., Reis, M.G., Gonçalves, M.S., Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil (2005) Cad Saude Publica, 21, pp. 292-298Chiang, E.Y., Frenette, P.S., Sickle cell vaso-occlusion (2005) Hematol Oncol Clin North Am, 19, pp. 771-784Joiner, C.H., Rettig, R.K., Jiang, M., Franco, R.S., KCl cotransport mediates abnormal sulfhydryl-dependent volume regulation in sickle reticulocytes (2004) Blood, 104, pp. 2954-2960Lew, V.L., Bookchin, R.M., Ion transport pathology in the mechanism of sickle cell dehydration (2005) Physiol Rev, 85, pp. 179-200Zen Q, Batchvarova M, Twyman CA, Eyler CE, Qiu H, De Castro LM, Telen MJ. B-CAM/LU expression and the role of B-CAM/LU activation in binding of low- and high-density red cells to laminin in sickle cell disease. Am J Hematol. 2004;75:63-7Assis, A., Conran, N., Canalli, A.A., Lorand-Metze, I., Saad, S.T., Costa, F.F., Effect of cytokines and chemokines on sickle neutrophil adhesion to fibronectin (2005) Acta Haematol, 113, pp. 130-136Canalli, A.A., Costa, F.F., Saad, S.T., Conran, N., Granulocytic adhesive interactions and their role in sickle cell vaso-occlusion (2005) Hematology, 10, pp. 419-425Conran, N., Saad, S.T., Costa, F.F., Ikuta, T., Leukocyte numbers correlate with plasma levels of granulocyte-macrophage colony-stimulating factor in sickle cell disease (2007) Ann Hematol, 86, pp. 255-261Canalli, A.A., Franco-Penteado, C.F., Traina, F., Saad, S.T., Costa, F.F., Conran, N., Role for cAMP-protein kinase A signalling in augmented neutrophil adhesion and chemotaxis in sickle cell disease (2007) Eur J Haematol, 79, pp. 330-337Conran, N., Almeida, C.B., Lanaro, C., Ferreira, R.P., Traina, F., Saad, S.T., Inhibition of caspase-dependent spontaneous apoptosis via a cAMP-protein kinase A dependent pathway in neutrophils from sickle cell disease patients (2007) Br J Haematol, 139, pp. 148-158Canalli, A.A., Conran, N., Fattori, A., Saad, S.T., Costa, F.F., Increased adhesive properties of eosinophils in sickle cell disease (2004) Exp Hematol, 32, pp. 728-734Belcher, J.D., Bryant, C.J., Nguyen, J., Bowlin, P.R., Kielbik, M.C., Bischof, J.C., Transgenic sickle mice have vascular inflammation (2003) Blood, 101, pp. 3953-3959Perelman, N., Selvaraj, S.K., Batra, S., Luck, L.R., Erdreich-Epstein, A., Coates, T.D., Placenta growth factor activates monocytes and correlates with sickle cell disease severity (2003) Blood, 102, pp. 1506-1514Solovey, A., Kollander, R., Shet, A., Milbauer, L.C., Choong, S., Panoskaltsis-Mortari, A., Endothelial cell expression of tissue factor in sickle mice is augmented by hypoxia/reoxygenation and inhibited by lovastatin (2004) Blood, 104, pp. 840-846Aslan, M., Freeman, B.A., Redox-dependent impairment of vascular function in sickle cell disease (2007) Free Radic Biol Med, 43, pp. 1469-1483Conran, N., Gambero, A., Ferreira, H.H., Antunes, E., de Nucci, G., Nitric oxide has a role in regulating VLA-4-integrin expression on the human neutrophil cell surface (2003) Biochem Pharmacol, 66, pp. 43-50Kaul, D.K., Liu, X.D., Chang, H.Y., Nagel, R.L., Fabry, M.E., Effect of fetal hemoglobin on microvascular regulation in sickle transgenic-knockout mice (2004) J Clin Invest, 114, pp. 1136-1145Steinberg, M.H., Predicting clinical severity in sickle cell anaemia (2005) Br J Haematol, 129, pp. 465-481Fathallah, H., Atweh, G.F., (2006) Induction of fetal hemoglobin in the treatment of sickle cell disease, pp. 58-62. , Hematology Am Soc Hematol Educ ProgramAdorno, E.V., Zanette, A., Lyra, I., Souza, C.C., Santos, L.F., Menezes, J.F., The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: A clinical and molecular view (2004) Hemoglobin, 28, pp. 267-271Hoppe, C., Klitz, W., Noble, J., Vigil, L., Vichinsky, E., Styles, L., Distinct HLA associations by stroke subtype in children with sickle cell anemia (2003) Blood, 101, pp. 2865-2869Sebastiani, P., Ramoni, M.F., Nolan, V., Baldwin, C.T., Steinberg, M.H., Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia (2005) Nat Genet, 37, pp. 435-440Castro, V., Alberto, F.L., Costa, R.N., Lepikson-Neto, J., Gualandro, S.F., Figueiredo, M.S., Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia (2004) Vox Sang, 87, pp. 118-123Steinberg, M.H., Adewoye, A.H., Modifier genes and sickle cell anemia (2006) Curr Opin Hematol, 13, pp. 131-136Kutlar, F., Diagnostic approach to hemoglobinopathies (2007) Hemoglobin, 31, pp. 243-250Colah, R.B., Surve, R., Sawant, P., D'Souza, E., Italia, K., Phanasgaonkar, S., HPLC studies in hemoglobinopathies (2007) Indian J Pediatr, 74, pp. 657-662Cremonesi, L., Ferrari, M., Giordano, P.C., Harteveld, C.L., Kleanthous, M., Papasavva, T., An overview of current microarray-based human globin gene mutation detection methods (2007) Hemoglobin, 31, pp. 289-311Kutlar, A., Sickle cell disease: A multigenic perspective of a single gene disorder (2007) Hemoglobin, 31, pp. 209-224Steinberg, M.H., Barton, F., Castro, O., Pegelow, C.H., Ballas, S.K., Kutlar, A., Effect of hydroxyurea on mortality and morbidity in adult sickle cell anemia: Risks and benefits up to 9 years of treatment (2003) JAMA, 289, pp. 1645-1651Davies, S.C., Gilmore, A., The role of hydroxyurea in the management of sickle cell disease (2003) Blood Rev, 17, pp. 99-109Conran, N., Fattori, A., Saad, S.T., Costa, F.F., Increased levels of soluble ICAM-1 in the plasma of sickle cell patients are reversed by hydroxyurea (2004) Am J Hematol, 76, pp. 343-347De Franceschi, L., Corrocher, R., Established and experimental treatments for sickle cell disease (2004) Haematologica, 89, pp. 348-356Gambero, S., Canalli, A.A., Traina, F., Albuquerque, D.M., Saad, S.T., Costa, F.F., Conran, N., Therapy with hydroxyurea is associated with reduced adhesion molecule gene and protein expression in sickle red cells with a concomitant reduction in adhesive properties (2007) Eur J Haematol, 78, pp. 144-151Haynes Jr, J., Obiako, B., Hester, R.B., Baliga, B.S., Stevens, T., Hydroxyurea attenuates activated neutrophil-mediated sickle erythrocyte membrane phosphatidylserine exposure and adhesion to pulmonary vascular endothelium (2008) Am J Physiol Heart Circ Physiol, 294, pp. H379-H385Johnson, C., Telen, M.J., Adhesion molecules and hydroxyurea in the pathophysiology of sickle cell disease (2008) Haematologica, 93, pp. 481-485Moreira, L.S., de Andrade, T.G., Albuquerque, D.M., Cunha, A.F., Fattori, A., Saad, S.T., Costa, F.F., Identification of differentially expressed genes induced by hydroxyurea in reticulocytes from sickle cell anaemia patients (2008) Clin Exp Pharmacol Physiol, 35, pp. 651-655Fattori, A., de Souza, R.A., Saad, S.T., Costa, F.F., Acute myocardial infarction in sickle cell disease: A possible complication of hydroxyurea treatment (2005) Hematol J, 5, pp. 589-590Steinberg, M.H., Brugnara, C., Pathophysiological-based approaches to treatment of sickle cell disease (2003) Annu Rev Med, 54, pp. 89-112Locatelli, F., Rocha, V., Reed, W., Bernaudin, F., Ertem, M., Grafakos, S., Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease (2003) Blood, 101, pp. 2137-2143Cheung, A.T., Chan, M.S., Ramanujam, S., Rangaswami, A., Curl, K., Franklin, P., Effects of poloxamer 188 treatment on sickle cell vaso-occlusive crisis: Computer-assisted intravital microscopy study (2004) J Investig Med, 52, pp. 402-406Makis, A.C., Hatzimichael, E.C., Stebbing, J., The genomics of new drugs in sickle cell disease (2006) Pharmacogenomics, 7, pp. 909-917Stocker, J.W., De Franceschi, L., McNaughton-Smith, G.A., Corrocher, R., Beuzard, Y., Brugnara, C., ICA-17043, a novel Gardos channel blocker, prevents sickled red blood cell dehydration in vitro and in vivo in SAD mice (2003) Blood, 101, pp. 2412-2418Mack, A.K., Kato, G.J., Sickle cell disease and nitric oxide: A paradigm shift? (2006) Int J Biochem Cell Biol, 38, pp. 1237-1243Machado, R.F., Martyr, S., Kato, G.J., Barst, R.J., Anthi, A., Robinson, M.R., Sildenafil therapy in patients with sickle cell disease and pulmonary hypertension (2005) Br J Haematol, 130, pp. 445-453Canalli, A.A., Franco-Penteado, C.F., Saad, S.T., Conran, N., Costa, F.F., Increased adhesive properties of neutrophils in sickle cell disease may be reversed by pharmacological nitric oxide donation (2008) Haematologica, 93, pp. 605-609Bank, A., On the road to gene therapy for beta-thalassemia and sickle cell anemia (2008) Pediatr Hematol Oncol, 25, pp. 1-4Shen, T.J., Rogers, H., Yu, X., Lin, F., Noguchi, C.T., Ho, C., Modification of globin gene expression by RNA targeting strategies (2007) Exp Hematol, 35, pp. 1209-1218Chang, J.C., Ye, L., Kan, Y.W., Correction of the sickle cell mutation in embryonic stem cells (2006) Proc Natl Acad Sci U S A, 103, pp. 1036-1040Wu, L.C., Sun, C.W., Ryan, T.M., Pawlik, K.M., Ren, J., Townes, T.M., Correction of sickle cell disease by homologous recombination in embryonic stem cells (2006) Blood, 108, pp. 1183-1188Birgens, H., Ljung, R., The thalassaemia syndromes (2007) Scand J Clin Lab Invest, 67, pp. 11-25Araújo, A.S., Silva, W.A., Leão, S.A., Bandeira, F.C., Petrou, M., Modell, B., A different molecular pattern of beta-thalassemia mutations in northeast (2003) Brazil. Hemoglobin, 27, pp. 211-217Taher, A., Isma'eel, H., Cappellini, M.D., Thalassemia intermedia: Revisited (2006) Blood Cells Mol Dis, 37, pp. 12-20Rund, D., Rachmilewitz, E., Beta-thalassemia (2005) N Engl J Med, 353, pp. 1135-1146Kuypers, F.A., de Jong, K., The role of phosphatidylserine in recognition and removal of erythrocytes (2004) Cell Mol Biol (Noisy-le-grand), 50, pp. 147-158Datta, P., Basu, S., Chakravarty, S.B., Chakravarty, A., Banerjee, D., Chandra, S., Enhanced oxidative cross-linking of hemoglobin E with spectrin and loss of erythrocyte membrane asymmetry in hemoglobin E beta-thalassemia (2006) Blood Cells Mol Dis, 37, pp. 77-81De Franceschi, L., Ronzoni, L., Cappellini, M.D., Cimmino, F., Siciliano, A., Alper, S.L., K-CL co-transport plays an important role in normal and beta thalassemic erythropoiesis (2007) Haematologica, 92, pp. 1319-1326Ayi, K., Turrini, F., Piga, A., Arese, P., Enhanced phagocytosis of ring-parasitized mutant erythrocytes: A common mechanism that may explain protection against falciparum malaria in sickle trait and beta-thalassemia trait (2004) Blood, 104, pp. 3364-3371Weiss, M.J., Zhou, S., Feng, L., Gell, D.A., Mackay, J.P., Shi, Y., Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia (2005) Ann N Y Acad Sci, 1054, pp. 103-117Toumba, M., Sergis, A., Kanaris, C., Skordis, N., Endocrine complications in patients with Thalassaemia Major (2007) Pediatr Endocrinol Rev, 5, pp. 642-648Aessopos, A., Berdoukas, V., Tsironi, M., The heart in transfusion dependent homozygous thalassaemia today - prediction, prevention and management (2008) Eur J Haematol, 80, pp. 93-106Weizer-Stern, O., Adamsky, K., Amariglio, N., Levin, C., Koren, A., Breuer, W., Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera (2006) Br J Haematol, 135, pp. 129-138Tanno, T., Bhanu, N.V., Oneal, P.A., Goh, S.H., Staker, P., Lee, Y.T., High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin (2007) Nat Med, 13, pp. 1096-1101Cohen, A.R., Galanello, R., Pennell, D.J., Cunningham, M.J., Vichinsky, E., (2004) Thalassemia, pp. 14-34. , Hematology Am Soc Hematol Educ ProgramAtaga, K.I., Cappellini, M.D., Rachmilewitz, E.A., Beta-thalassaemia and sickle cell anaemia as paradigms of hypercoagulability (2007) Br J Haematol, 139, pp. 3-13Panigrahi, I., Agarwal, S., Thromboembolic complications in beta-thalassemia: Beyond the horizon (2007) Thromb Res, 120, pp. 783-789Amer, J., Fibach, E., N-acetylcysteine amide, a novel cell-permeating thiol, restores cellular glutathione and protects human red blood cells from oxidative stress (2005) Free Radic Biol Med, 38, pp. 136-145Pattanapanyasat, K., Gonwong, S., Chaichompoo, P., Noulsri, E., Lerdwana, S., Sukapirom, K., Activated platelet-derived microparticles in thalassaemia (2007) Br J Haematol, 136, pp. 462-471Weinstein, B.I., Erramouspe, B., Albuquerque, D.M., Oliveira, D.M., Kimura, E.M., Costa, F.F., Hb Florida: A novel elongated C-terminal beta-globin variant causing dominant beta-thalassemia phenotype (2006) Am J Hematol, 81, pp. 358-360Singh, S.P., Gupta, S., Molecular pathogenesis and clinical variability of homozygous beta 0-thalassemia in populations of Jammu region of J&K state (India) (2006) Hematology, 11, pp. 271-275Kimura, E.M., Grignoli, C.R., Pinheiro, V.R., Costa, F.F., Sonati, M.F., Thalassemia intermedia as a result of heterozygosis for beta 0-thalassemia and alpha alpha alpha anti-3,7 genotype in a Brazilian patient (2003) Braz J Med Biol Res, 36, pp. 699-701Bailey, L., Kuroyanagi, Y., Franco-Penteado, C.F., Conran, N., Costa, F.F., Ausenda, S., Expression of the gamma-globin gene is sustained by the cAMP-dependent pathway in beta-thalassaemia (2007) Br J Haematol, 138, pp. 382-395dos Santos, C.O., Costa, F.F., AHSP and beta-thalassemia: A possible genetic modifier (2005) Hematology, 10, pp. 157-161dos Santos, C.O., Zhou, S., Secolin, R., Wang, X., Cunha, A.F., Higgs, D.R., Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function (2008) Am J Hematol, 83, pp. 103-108Franchini, M., Veneri, D., Iron-chelation therapy: An update (2004) Hematol J, 5, pp. 287-292Pootrakul, P., Sirankapracha, P., Sankote, J., Kachintorn, U., Maungsub, W., Sriphen, K., Clinical trial of deferiprone iron chelation therapy in beta-thalassaemia/haemoglobin E patients in Thailand (2003) Br J Haematol, 122, pp. 305-310Tsironi, M., Deftereos, S., Andriopoulos, P., Farmakis, D., Meletis, J., Aessopos, A., Reversal of heart failure in thalassemia major by combined chelation therapy: A case report (2005) Eur J Haematol, 74, pp. 84-85Neufeld, E.J., Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: New data, new questions (2006) Blood, 107, pp. 3436-3441Choudhry, V.P., Naithani, R., Current status of iron overload and chelation with deferasirox (2007) Indian J Pediatr, 74, pp. 759-764Yang, L.P., Keam, S.J., Keating, G.M., Deferasirox: A review of its use in the management of transfusional chronic iron overload (2007) Drugs, 67, pp. 2211-2230Rivera, S., Nemeth, E., Gabayan, V., Lopez, M.A., Farshidi, D., Ganz, T., Synthetic hepcidin causes rapid dose-dependent hypoferremia and is concentrated in ferroportin-containing organs (2005) Blood, 106, pp. 2196-2199Higgs, D.R., (2004) Gene regulation in hematopoiesis: New lessons from thalassemia, pp. 1-13. , Hematology Am Soc Hematol Educ ProgramWeatherall, D.J., Thalassaemia: The long road from bedside to genome (2004) Nat Rev Genet, 5, pp. 625-631Quek, L., Thein, S.L., Molecular therapies in beta-thalassaemia (2007) Br J Haematol, 136, pp. 353-365Dissayabutra, T., Tosukhowong, P., Seksan, P., The benefits of vitamin C and vitamin E in children with beta-thalassemia with high oxi

High Prevalence Of α-thalassemia Among Individuals With Microcytosis And Hypochromia Without Anemia

In order to determine the contribution of α-thalassemia to microcytosis and hypochromia, 339 adult outpatients seen at Unicamp University Hospital (with the exception of the Clinical Hematology outpatient clinics), who showed normal hemoglobin (Hb) levels and reduced mean corpuscular volume and mean corpuscular hemoglobin, were analyzed. Ninety-eight were Blacks (28.9%) and 241 were Caucasians (71.1%). In all cases, Hb A2 and F levels were either normal or low. The most common deletional and nondeletional forms of α-thalassemia [-α3.7, -α4.2, -MED, -(α)20.5, αHphIα, αNcolα, ααNcoI and αTSAUDI] were investigated by PCR and restriction enzyme analyses. A total of 169 individuals (49.9%) presented α-thalassemia: 145 (42.8%) were heterozygous for the -α3.7 deletion (-α3.7/αα) and 18 (5.3%) homozygous (-α3.7/-α3.7), 5 (1.5%) were heterozygous for the nondeletional form αHPhlα/αα, and 1 (0.3%) was a -MED carrier (-MED/αα). Among the Blacks, 56 (57.1%) showed the -α3.7/ αα genotype, whereas 12 (12.2%) were -α3.7/-α3.7 and I (1.0%) was an αHPhlα carrier; among the Caucasians, 89 (36.9%) were -α3.7/αα, 6 (2.5%) had the -α3.7/-α3.7 genotype, 4 (1.7%) presented the nondeletional form (αHPhlα/αα), and 1 (0.4%) was a -MED carrier. These results demonstrate that α-thalassemia, mainly through the -α3.7 deletion, is an important cause of microcytosis and hypochromia in individuals without anemia. These data are of clinical relevance since these hematological alterations are often interpreted as indicators of iron deficiency.346759762Weatherall, D.J., Clegg, J.G., (1981) The Thalassaemia Syndromes. 3rd Edn., , Blackwell Scientific Publications, OxfordBunn, H.F., Forget, B.G., (1986) Hemoglobin: Molecular, Genetics and Clinical Aspects, , W.B. Saunders, PhiladelphiaHiggs, D.R., Vickers, M.A., Wilkie, A.O.M., Pretorius, I.M., Jarman, A.P., Weatherall, D.J., A review of the molecular genetics of the human α-globin gene cluster (1989) Blood, 73, pp. 1081-1104Kazazian H., Jr., The thalassemia syndromes: Molecular basis and prenatal diagnosis in 1990 (1990) Seminars in Hematology, 27, pp. 209-228Harteveld, K.L., Losekoot, M., Ajgam, H., Van Der Wielen, M., Giordano, P.C., Bernini, L.F., α-Thalassaemia in the Netherlands: A heterogeneous spectrum of both deletions and point mutations (1997) Human Genetics, 100, pp. 465-471Higgs, D.R., α-Thalassaemia (1993) Baillieres Clinical Haematology, 6, pp. 117-150Kattamis, A.C., Camaschella, C., Sivera, P., Surrey, S., Fortina, P., Human α-thalassemia syndromes: Detection of molecular defects (1996) American Journal of Hematology, 53, pp. 81-91Bianco, I., Cappabianca, M.P., Foglietta, E., Lerone, M., Deidda, G., Morlupi, L., Grisanti, P., Graziani, B., Silent thalassemias: Genotypes and phenotypes (1997) Haematologica, 82, pp. 269-280Galanello, R., Sollaino, C., Paglietti, E., Barella, S., Perra, C., Doneddu, I., Pirroni, M.G., Cao, A., α-Thalassemia carrier identification by DNA analysis in the screening for thalassemia (1998) American Journal of Hematology, 59, pp. 273-278Sonati, M.F., Costa, F.F., Hemoglobin Bart's in a Brazilian black population (1990) Brazilian Journal of Medical and Biological Research, 23, pp. 395-396Sonati, M.F., Farah, S.B., Ramalho, A.S., Costa, F.F., High prevalence of α-thalassemia in a Black population of Brazil (1991) Hemoglobin, 15, pp. 309-311Zago, M.A., Costa, F.F., Bottura, C., Hemoglobin H disease in three Brazilian families (1984) Revista Brasileira de Genética, 7, pp. 137-147Wenning, M.R.S.C., Kimura, E.M., Costa, F.F., Saad, S.T.O., Gervásio, S.A., De Jorge, S.B., Borges, E., Sonati, M.F., α-Globin genes: Thalassemic and structural alterations in a Brazilian population (2000) Brazilian Journal of Medical and Biological Research, 33, pp. 1041-1045Dodé, C., Krishnamoorthy, R., Lamb, J., Rochette, J., Rapid analysis of -α3.7 thalassaemia and αααanti 3.7 triplication by enzymatic amplification analysis (1993) British Journal of Haematology, 82, pp. 105-111Bowden, D.K., Vickers, M.A., Higgs, D.R., A PCR-based strategy to detect the common severe determinants of a thalassaemia (1992) British Journal of Haematology, 81, pp. 104-108Oron-Karni, V., Filon, D., Oppenheim, A., Rund, D., Rapid detection of the common Mediterranean α-globin deletions/rearrangements using PCR (1998) American Journal of Hematology, 58, pp. 306-310Hall, G.W., Thein, S.L., Newland, C.A., Chisholm, J.T.S., Kanavakis, E., Kattamis, C., Higgs, D.R., A base substitution (T→C) in codon 29 of the α2-globin gene causes α thalassemia (1993) British Journal of Haematology, 85, pp. 546-552Pearson, H.A., Ehrenkranz, R.A., Rinder, H.M., Hemosiderosis in a normal child secondary to oral iron medication (2000) Pediatrics, 105, pp. 429-43

Cognitive approaches and optical multispectral data for semi-automated classification of landforms in a rugged mountainous area

This paper introduces a new open source, knowledge-based framework for automatic interpretation of remote sensing images, called InterIMAGE. This framework owns a flexible modular architecture, in which image processing operators can be associated to both root and leaf nodes of the semantic network, which constitutes a differential strategy in comparison to other object-based image analysis platforms currently available. The architecture, main features as well as an overview on the interpretation strategy implemented in InterIMAGE is presented. The paper also reports an experiment on the classification of landforms. Different geomorphometric and textural attributes obtained from ASTER/Terra images were combined with fuzzy logic and drove the interpretation semantic network. Object-based statistical agreement indices, estimated from a comparison between the classified scene and a reference map, were used to assess the classification accuracy. The InterIMAGE interpretation strategy yielded a classification result with strong agreement and proved to be effective for the extraction of landforms

Genotyping Of Kell, Duffy, Kidd And Rhd In Patients With β Thalassemia

Determination of Rh, Kell, Duffy and Kidd phenotypes in addition to ABO is used to prevent the alloimmunization to red blood cells (RBCs) antigens and as part of the antibody identification process in patients with β Thalassemia. However, phenotyping in these patients can be time consuming and difficult to interpret. In these situations, it would be valuable to have an alternative to hemagglutination tests to determine the patient's antigen profile. We used PCR-RFLP to genotype such patients. DNA was prepared from 50 patients with β Thalassemia who had been phenotyped by routine hemagglutination, and tested for Kell, Kidd, Duffy/ GATA mutation by PCR-RFLP. RHD/non-D was analysed by PCR product size associated to RHD gene sequence in intron 4 and exon 10/3'UTR. The genotyping assays were performed without knowledge of phenotype results. For RHD/non-D, 47 were RhD+ and RHD+/RHCE+, and 3 were RhD- and RHD-/RHCE+. For Kell, 48 kk were K2K2 and 2 Kk were K1K2. For Duffy, of 44 samples that had normal GATA box, 8 Fy(a+b-) were FYA/FYA, 15 Fy(a+b+) were FYB/FYB, and 19 Fy(a+b+) were FYA/FYB; of the other 4 samples 3 were FYA/FYB and heterozygous GATA mutation, and 1 Fy(a-b-) was FYB/FYB, homozygous GATA mutation. Two samples phenotyped as Fy(a+b-) that had normal GATA, presented the 265T/298 A mutations and two samples phenotyped as Fy(a-b+) were genotyped was FYA/FYB. For Kidd, 15 Jk(a+b) were JKA/JKA, 12 Jk(a-b+) were JKB/JKB, and 20 Jk(a+b+) were JKA/JKB. Three samples phenotyped as JK(a+b+) were genotyped as JKB/JKB. Genotype is more accurate than phenotype for determination of blood groups in polytransfused patients with β Thalassemia. Genotyping in these patients can be helpful to select antigen-negative RBCs for transfusion.2226976Blumberg, N., Peck, K., Ross, K., Avila, E., Immune response to chronic red blood cell transfusion (1983) Vox Sang, 44, pp. 212-217Economidou, J., Constantoulakis, M., Augoustaki, O., Adinolfi, M., Frequency of antibodies to various antigenic determinants in polytransfused patients with homozygous thalassemia in Greece (1971) Vox Sang, 20, p. 252Sirchia, G., Zanella, A., Parravicini, A., Morelati, F., Rebulla, P., Masera, G., Red cell alloantibodies in patients with thalassemia major. Results of na Italian cooperative study (1985) Transfusion, 25, p. 110Spanos, T., Karageorga, M., Ladis, V., Peristeri, J., Hatziliami, A., Kattamis, C., Red cell alloantibodies in patients with thalassemia (1990) Vox Sang, 58, p. 50Greenwalt, T.J., Zelenski, K.R., Transfusion support for hemoglobinopathies (1984) Clin. Haematol., 13, pp. 151-165Charache, S., Problems in transfusion therapy (1990) N. Engl. J. Med., 322, pp. 1666-1668. , editorialPerkins, H.A., The safety of the blood supply: Making decisions in transfusion medicine (1992) Blood Safety: Current Challenges, pp. 125-150. , Nance SJ, ed. Bethesda: American Association of Blood BanksColes, S.M., Klein, H.G., Holland, P.V., Alloimmunization in two multitransfused patient populations (1981) Transfusion, 21, pp. 462-466Michail-Merianou, V., Pamphili-Panouspoulou, L., Piperi-Lowes, L., Pelegrinis, E., Karaklis, A., Alloimmunization to red cell antigens in thalassemia: Comparative study of usual versus better-match transfusion programmes (1987) Vox Sang, 52, p. 95Reid, M.E., Yazdanbakhsh, K., Molecular insights into blood groups and implications for blood transfusions (1998) Current Opinion in Hematology, 5, pp. 93-102Avent, N.D., Human erythrocyte antigen expression: Its molecular bases (1997) Br. J. Biom. Sci., 54, pp. 16-37Lee, T.H., Donegan, E., Slichter, S., Bush, M.P., Transient increase in circulating donor leucocytes after allogeneic transfusions in Immunocompetent recipients compatible with donor cell proliferation (1995) Blood, 85, pp. 1207-1214Adams, F.T., Davenport, R.D., Rcardon, D.A., Roth, M.S., Detection of circulating donor white blood cells in patients receiving multiple trasnfusions (1992) Blood, 80, pp. 551-555Lee, T.-H., Paglieroni, T., Ohro, H., Holland, P.V., Bush, M.P., Longterm multi-lineage chimerism of donor leucocytes in transfused trauma patients (1996) Blood, 88, p. 265. , abstrRios, M., Cash, K., Strupp, A., Uehlinger, J., Reid, M.E., DNA from urine sediment or buccal cells can be used for blood group molecular genotyping (1999) Immunehematology, 15, pp. 61-65Reid, M.E., Rios, M., Powell, D., Charles-Pierre, D., Malavade, V., DNA from blood samples can be used to genotype patients who have recently received a transfusion (2000) Transfusion, 40, pp. 1-6Davies, L., Dibner, M.D., Battey, J.F., (1986) Basic Methods in Molecular Biology, , Elsevier Science Publishing Co. Inc., New YorkLee, S., Wu, X., Reid, M.E., Zelinski, T., Redman, C., Molecular basis of the Kell (K1) phenotype (1995) Blood, 85, pp. 912-916Olivès, B., Merriman, M., Bailly, P., Bain, S., Barnett, A., Todd, J., Cartron, J.-P., Merriman, T., The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility (1997) Hum. Mol. Genet., 6, pp. 1017-1020Chaudhuri, A., Polyakova, J., Zbrezezna, V., Williams, K., Gulati, S., Pogo, A.O., Cloning of glycoprotein D cDNA, which encodes the major subunit of the Duffy blood group system and the receptor for the Plasmodium vivax malaria parasite (1993) Proc. Natl. Acad. Sci. USA, 90, pp. 10793-10797Iwamoto, S., Omi, T., Kajii, E., Ikemoto, S., Genomic organization of the glycophorin D gene: Duffy blood group Fy a/Fy b alloantigen system is associated with a polymorphism at the 44-amino residue (1995) Blood, 85, pp. 622-626Tournamille, C., Collin, Y., Cartron, J.-P., Van Le Kim, C., Disruption of a GATA motif in the Duffy gene promotor abolishes erythroid gene expression in Duffy-negative individuals (1995) Nature Genet., 10, pp. 224-228Rios, M., Reid, M.E., Naime, D., Chaudhuri, A., Pogo, A.O., Bianco, C., Importance of GATA box analysis in genotyping for the Duffy blood group system (1997) Transfusion, 37 (S), pp. 101S. , abstrZimmerman, P.A., Woolley, I., Masinde, G.L., Miller, S.M., McNamara, D.T., Hazlett, F., Mgone Alpers, M.P., Kazura, J.W., Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea (1999) Proc Natl Acad Sci. USA, 96 (24), pp. 13973-13977. , Nov 23Olsson, M.L., Hansson, C., Akesson, I.E., Avent, N.D., Daniels, G.L., Detection of the common alleles at the Duffy blood group locus by allele-specific primer PCR (1997) Transfusion, 37 (S), pp. 102S. , abstrCartron, J.-P., Bailly, P., Van Le Kim, C., Insights into the structure and function of membrane polypeptides carrying blood group antigens (1998) Vox Sang, 74 (SUPPL. 2), pp. 29-64Huang, C.H., Molecular insights into the Rh protein family and associated antigens (1997) Curr Opin Hematol., 4, pp. 94-103Huang, C.H., Blumenfeld, O.O., MNSs blood groups and major glycophorins: Molecular basis for allelic variation (1995) Molecular Basis of Major Human Blood Group Antigens, pp. 153-183. , cartron J-P, Pouger P, eds. New York: Plenum PressAvent, N.D., Reid, M.E., The Rh Blood group system: A review (2000) Blood, 95, pp. 1-1

Elevated hypercoagulability markers in hemoglobin sc disease

Hemoglobin SC disease is a very prevalent hemoglobinopathy, however very little is known specifically about this condition. There appears to be an increased risk of thromboembolic events in hemoglobin SC disease, but studies evaluating the hemostatic alterations are lacking. We describe a cross-sectional observational study evaluating coagulation activation markers in adult hemoglobin SC patients, in comparison with sickle cell anemia patients and healthy controls. A total of 56 hemoglobin SC and 39 sickle cell anemia patients were included in the study, all in steady state, and 27 healthy controls. None of the patients were in use of hydroxyurea. Hemoglobin SC patients presented a significantly up-regulated relative expression of tissue factor, as well as elevations in thrombin-antithrombin complex and D-dimer, in comparison to controls (p<0.01). Hemoglobin SC patients presented lower tissue factor expression, and thrombin-antithrombin complex and D-dimer levels when compared to sickle cell anemia patients (p<0.05). Endothelial activation (soluble thrombomodulin and soluble vascular cell adhesion molecule-1), and inflammation (tumor necrosis factor-alpha) markers were both significantly elevated in hemoglobin SC patients when compared to controls, being as high as the levels seen in sickle cell anemia. Overall, in hemoglobin SC patients, higher hemolytic activity and inflammation were associated with a more intense activation of coagulation, and hemostatic activation was associated with two very prevalent chronic complications seen in hemoglobin SC disease: retinopathy and osteonecrosis. In summary, our results demonstrate that hemoglobin SC patients present a hypercoagulable state, although this manifestation was not as intense as that seen in sickle cell anemia.Hemoglobin SC disease is a very prevalent hemoglobinopathy, however very little is known specifically about this condition. There appears to be an increased risk of thromboembolic events in hemoglobin SC disease, but studies evaluating the hemostatic alte1004466471CNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICOFAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOsem informaçãosem informaçã

Guidelines on the treatment of anemia of chronic renal failure using recombinant human erythropoietin: associação brasileira de hematologia, hemoterapia e terapia celular guidelines project: Associação médica brasileira - 2014

The guidelines project is a joint initiative of the Associação Médica Brasileira and the Conselho Federal de Medicina. It aims to collect information to standardize decisions and help create strategies during diagnosis and treatment. These data were prepa366450453sem informaçãosem informaçã

Estimating additive and dominance variances for complex traits in pigs combining genomic and pedigree information

Knowledge of dominance effects should improve ge-netic evaluations, provide the accurate selection of purebred animals, and enable better breeding strategies, including the exploitation of het-erosis in crossbreeds. In this study, we combined genomic and pedi-gree data to study the relative importance of additive and dominance genetic variation in growth and carcass traits in an F2 pig population. Two GBLUP models were used, a model without a polygenic effect (ADM) and a model with a polygenic effect (ADMP). Additive effects played a greater role in the control of growth and carcass traits than did dominance effects. However, dominance effects were important for all traits, particularly in backfat thickness. The narrow-sense and broad-sense heritability estimates for growth (0.06 to 0.42, and 0.10 to 0.51, respectively) and carcass traits (0.07 to 0.37, and 0.10 to 0.76, respec-tively) exhibited a wide variation. The inclusion of a polygenic effect in the ADMP model changed the broad-sense heritability estimates only for birth weight and weight at 21 days of age

Enhancement of antibiotic activity by Cordia verbenacea DC

Escherichia coli is known to produce enterotoxins whose properties and its role in diarrheal disease has been extensively investigated. Some species of Staphylococcus are often recognized as etiological agents of many animal and human opportunistic infections. This study is the first test of change in resistance of antibiotic activity by Cordia verbenacea DC. against multiresistant strains of Escherichia coli and Staphylococcus aureus. In this study, the hexane and methanol extract of Cordia verbenacea DC. were tested for antibacterial activity alone and in combination with aminoglycosides against bacterial strains. The synergy of the methanolic and hexane were verified by microdilution method. A synergistic effect of both extracts combined with the aminoglycosides was demonstrated. It is therefore suggested that the extracts from Cordia verbenacea DC. could be used as a source of natural products derived from this plant with resistance-modifying antibacterial activity, providing a new weapon against the problem of bacterial resistance to antibiotics.Colegio de Farmacéuticos de la Provincia de Buenos Aire