21 research outputs found
Hb Évora [α2–35, Ser→Pro], a novel hemoglobin variant associated with an α-thalassemia phenotype
No full textA phase 2 study of HQK-1001, an oral fetal haemoglobin inducer, in β-thalassaemia intermedia
No full text[No abstract available]Bauer DE, 2012, BLOOD, V120, P2945, DOI [10.1182-blood-2012-06-292078, 10.1182-blood2012-06-292078]; Capellini M. D., 2000, BLOOD CELL MOL DIS, V26, P105; Collins H. A., 1995, BLOOD, V85, P43; Fucharoen S, 2012, BLOOD, V120; Fucharoen S, 2013, BRIT J HAEMATOL, V161, P587, DOI 10.1111-bjh.12304; Mankidy R, 2006, BLOOD, V108, P3179, DOI 10.1182-blood-2005-12-010934; Musallam KM, 2013, BLOOD, V121, P2199, DOI 10.1182-blood-2012-10-408021; Pace BS, 2002, BLOOD, V100, P4640, DOI 10.1182-blood-2002-02-0353; PERRINE SP, 1993, NEW ENGL J MED, V328, P81, DOI 10.1056-NEJM199301143280202; Thein SL, 2009, HUM MOL GENET, V18, pR216, DOI 10.1093-hmg-ddp401; Weatherall DJ, 2010, BLOOD, V115, P4331, DOI 10.1182-blood-2010-01-2513480
Multiple minisequencing screen for seven Southeast Asian nondeletional α-thalassemia mutations
No full text10.1373/49.5.800Clinical Chemistry495800-803CLCH
Development and Testing of an Unconventional Morphing Wing Concept with Variable Chord and Camber
No full textDriven by the need to improve the performance and energy-efficiency of aircraft, current research in the field of morphing wings is growing in significance. The most recently developed concepts typically adjust only one characteristic of the wing. Within this paper a new concept for morphing wings is developed and tested, enabling large changes of the chord length and camber simultaneously. By changing two characteristics of the wing instead of one, the range of flight missions can be extended more effectively. To achieve these large shape changes, highly adaptable leading and trailing sections are mounted onto a rigid wingbox. A thin polymer film is encompassing these three sections. By adjusting the length of this film, the outline of the wing can be changed significantly. A prototype has been designed and manufactured for wind tunnel tests. The leading and trailing sections are made of polyurethane foam, which can be compressed to 10 percent of its original volume. Different polyurethane foams are tested for optimal stiffness to withstand the aerodynamic loads acting on the wing, while being soft enough to accommodate the large deformations. The film encompassing the sections is retracted into the wingbox to achieve the desired shapes of the airfoil. On the one hand, this film needs to be very thin to fit into the wingbox, while on the other hand it needs to be stiff enough to withstand the pressure exerted by the foam. The manufactured prototype enables changes of the chord length by 30 percent and the camber by 10 percent of the chord length. These deformations were achieved without any significant kinking or buckling. Three different asymmetric airfoil shapes and two symmetric shapes with different chord lengths were tested in a series of wind tunnel tests. All five airfoil shapes deformed very little under wind loads. The lift and drag results were compared to generate values and matched very closely. The prototype fulfils all predefined requirements and performs very well over a wide range of airfoil shapes and wind speeds.Aerospace Structures & Computational Mechanic
A multi-omic approach to discovering methylation-based markers of colon cancer in cfDNA
No full textIn recent years the advent of multi-omic techniques have shown great promise in the field of oncology. In light of these advancements, this thesis focuses on the use of multiple data types to find methylation markers around transcription start site regions for colorectal cancer in the cell-free DNA (cfDNA) domain. It combines several methods of finding these markers, based on publicly available data obtained from solid tissue biopsies. These methods are both based on a single data type, as well as integrating multiple different data types. The resulting selections of methylation markers are then tested for significance on two independent datasets of cfDNA samples. The selections produced are tested on these datasets for their significance in distinguishing colorectal cancer samples from healthy samples. On one of these datasets, the selections are also tested for being differentially methylated between a group of patients with recurring tumors versus non-recurring tumors. The results on these two different datasets vary, showing that the methods of selecting potential methylation markers are capable of doing so on one platform, but that these results cannot be validated on another.Computer Science | Bioinformatic
Identification of the first mutation in a bre motif of the β-globin gene and its inheritance with two other α-globin gene mutations in a lebanese family
No full textA 7-year old boy presented with a history of recurrent respiratory infections and hypochromic microcytic anemia. Iron profiles were normal thereby prompting genetic analysis of α- and β-globin mutations. The first mutation in a BRE motif of the β-globin gene in the proband, sibling and the mother was identified. The proband and his sibling also inherited common α-globin mutations from the father and mother. In all cases, no serious thalassemia disease was detected. © 2013 Informa Healthcare USA, Inc.BOWDEN DK, 1987, J CLIN INVEST, V79, P39, DOI 10.1172-JCI112804; CAO A, 1994, BLOOD REV, V8, P1, DOI 10.1016-0268-960X(94)90002-7; Hardison RC, 2002, HUM MUTAT, V19, P225, DOI 10.1002-humu.10044; Muncie HL, 2009, AM FAM PHYSICIAN, V80, P339; Steinberg MH, 2009, DISORDERS OF HEMOGLOBIN: GENETICS, PATHOPHYSIOLOGY, AND CLINICAL MANAGEMENT, 2ND EDITION, P1, DOI 10.1017-CBO9780511596582; STUVE LL, 1990, MOL CELL BIOL, V10, P972; Suemasu CN, 2011, BRAZ J MED BIOL RES, V44, P16, DOI 10.1590-S0100-879X20110001000030
179: Unrelated donor umbilical cord blood transplant following intrauterine transfusions for treatment of alpha thalassemia major
No full textConjugated poly(azomethine)s via simple one-step polycondensation chemistry: Synthesis, thermal and optoelectronic properties
No full textThree conjugated triphenylamine-based poly(azomethine)s were prepared via well-known polycondensation chemistry using cheap and readily available starting materials and the results were contrasted with rrP3HT. Three functionalized diaminetriphenylamines (TPA(X), X ¼ –H, –OMe, –CN) were polymerized in a simple one-step process with 2,3-dihydrothieno[3,4-b][1,4]dioxine-5,7-dicarbaldehyde (ThOx), with water being the only side product. The resulting polymers (TPA(X)ThOx, X ¼ –H, –OMe, –CN) were characterized by GPC, IR and NMR, and show a good thermal stability. The opto-electronic properties could be tuned by changing the functionalization (X ¼ –H, –OMe, –CN) on the triphenylamine moiety. Photovoltaic devices based on TPA(X)ThOx/PCBM (1 : 2) showed power conversion efficiencies in the range of 0.02–0.04%. TRMC measurements showed that the presence of PCBM as an electron acceptor facilitates the formation of free mobile charges after excitation of the polymer. The low device efficiencies are attributed to a low hole-mobility of the polymer in combination with poor active layer morphology.Aerospace Structures & MaterialsAerospace Engineerin
Three New α-globin Variants: Hb Itapira [α30(b11)glu→val (α1)], Hb Bom Jesus Da Lapa [α30(b11)glu→ala (α1)] And Hb Boa Esperança [α16(a14)lys→thr (α2)]
No full textThree novel α-globin variants were found during a screening program for hemoglobinopathies in blood donors at the UNICAMP Hematology and Hemotherapy Center, Campinas, State of São Paulo, Southeastern Brazil. They were named for the town of origin of the carrier as Hb Itapira [α30(B11) Glu→Val], Hb Bom Jesus da Lapa [α30(B11)Glu→Ala] and Hb Boa EsperanÇa [α16(A14)Lys→Thr]. Hb Itapira, like Hb Bom Jesus da Lapa, shows an electrophoretic mobility similar to that of Hb S [β6(A3)Glu→Val, GAG→GTG] at alkaline pH; it is associated with a triplicate α-globin allele (αααanti 3.7) and corresponds to only 5.5% of the total hemoglobin (Hb). Hb Boa EsperanÇa, found in two different individuals, moves faster than Hb A and exhibits an abnormal functional performance. Copyright © Informa Healthcare.312151157Hardison, R.C., Chui, D.H.K., Giardine, B., Riemer, C., Patrinos, G.P., Anagnou, N., Miller, W., Wajcman, H., HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server (2002) Hum Mutat, 19 (3), pp. 225-233. , http://globin.cse.psu.eduDacie, J.V., Lewis, S.M., (1995) Practical Haematology, , 8th ed. Edinburgh: Churchill LivingstoneDodé, C., Rochette, J., Krishnamoorthy, R., Locus assignment of human α globin mutations by selective amplification and direct sequencing (1990) Br J Haematol, 76 (2), pp. 275-281Dodé, C., Krishnamoorthy, R., Lamb, J., Rochette, J., Rapid analysis of ?α 3.7 thalassaemia and ααα anti 3.7 triplication by enzymatic amplification analysis (1993) Br J Haematol, 83 (1), pp. 105-111Rossi-Fanelli, A., Antonini, E., Studies on the oxygen and carbon monoxide equilibria of human hemoglobin (1958) Arch Biochem Biophys, 77 (2), pp. 478-492Chanutin, A., Curnish, R.R., Effect of organic and inorganic phosphates on the oxygen equilibrium of human erythrocytes (1967) Arch Biochem Biophys, 121 (1), pp. 96-102Benesch, R., Benesch, R.E., The effect of organic phosphates from the human erythrocyte on the allosteric properties of hemoglobin (1967) Biochem Biophys Res Commun, 26 (2), pp. 162-167Tan, A.S.C., Quah, T.C., Low, P.S., Chong, S.S., A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia (2001) Blood, 98 (1), pp. 250-251Antonini, E., Brunoni, M., (1970) Hemoglobin and Myoglobin in Their Reaction with Ligands, , 1st ed. Amsterdam: North-Holland Publishing CompanyVestri, R., Pieragostini, E., Yang, F., di Gregório, P., Rando, A., Masina, P., Expression of triplicated and quadruplicated α globin genes in sheep (1991) Br J Haematol, 77 (1), pp. 110-116Vestri, R., Pieragostini, E., Ristaldi, M.S., Expression gradient in sheep αα and ααα globin gene haplotypes: MRNA levels (1994) Blood, 83 (8), pp. 2317-232
Virtual surgery to predict optimized conduit size for adult Fontan patients with 16-mm conduits
No full textObjectives: Recent evidence suggests that conduits implanted in Fontan patients at the age of 2-4 years become undersized for adulthood. The objective of this study is to use computational fluid dynamic models to evaluate the effect of virtual expansion of the Fontan conduit on haemodynamics and energetics of the total cavopulmonary connection (TCPC) under resting conditions and increased flow conditions. Methods: Patient-specific, magnetic resonance imaging-based simulation models of the TCPC were performed during resting and increased flow conditions. The original 16-mm conduits were virtually enlarged to 3 new sizes. The proposed conduit sizes were defined based on magnetic resonance imaging-derived conduit flow in each patient. Flow efficiency was evaluated based on power loss, pressure drop and resistance and thrombosis risk was based on flow stagnation volume and relative residence time (RRT). Results: Models of 5 adult patients with a 16-mm extracardiac Fontan connection were simulated and subsequently virtually expanded to 24-32 mm depending on patient-specific conduit flow. Virtual expansion led to a 40-65% decrease in pressure gradient across the TCPC depending on virtual conduit size. Despite improved energetics of the entire TCPC, the pulmonary arteries remained a significant contributor to energy loss (60-73% of total loss) even after virtual surgery. Flow stagnation volume inside the virtual conduit and surface area in case of elevated RRT (>20/Pa) increased after conduit enlargement but remained negligible (flow stagnation <2% of conduit volume in rest, <0.5% with exercise and elevated RRT <3% in rest, <1% with exercise). Conclusions: Virtual expansion of 16-mm conduits to 24-32 mm, depending on patient-specific conduit flow, in Fontan patients significantly improves TCPC efficiency while thrombosis risk presumably remains low.RID/KEWO/HOR-OntwikkelingPattern Recognition and BioinformaticsChemE/Transport Phenomen
