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We performed the first direct mass measurements of neutron-rich scandium, titanium, and vanadium isotopes around the neutron number 40 at the RIKEN RI Beam Factory using the time-of-flight magnetic-rigidity technique. The atomic mass excesses of ^{58-60}Sc, ^{60-62}Ti, and ^{62-64}V were measured for the first time. The experimental results show that the two-neutron separation energies in the vicinity of ^{62}Ti increase compared to neighboring nuclei. This shows that the masses of Ti isotopes near N=40 are affected by the Jahn-Teller effect. Therefore, a development of Jahn-Teller stabilization appears below the Cr isotopes, and the systematics in Sc, Ti, and V isotopes suggest that ^{62}Ti is located close to the peak of the Jahn-Teller effect.
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Interaction cross sections for ^{42-51}Ca on a carbon target at 280 MeV/nucleon have been measured for the first time. The neutron number dependence of derived root-mean-square matter radii shows a significant increase beyond the neutron magic number N=28. Furthermore, this enhancement of matter radii is much larger than that of the previously measured charge radii, indicating a novel growth in neutron skin thickness. A simple examination based on the Fermi-type distribution, and mean field calculations point out that this anomalous enhancement of the nuclear size beyond N=28 results from an enlargement of the core by a sudden increase in the surface diffuseness of the neutron density distribution, which implies the swelling of the bare ^{48}Ca core in Ca isotopes beyond N=28.
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Atomic nuclei are finite quantum systems composed of two distinct types of fermion--protons and neutrons. In a manner similar to that of electrons orbiting in an atom, protons and neutrons in a nucleus form shell structures. In the case of stable, naturally occurring nuclei, large energy gaps exist between shells that fill completely when the proton or neutron number is equal to 2, 8, 20, 28, 50, 82 or 126 (ref. 1). Away from stability, however, these so-called 'magic numbers' are known to evolve in systems with a large imbalance of protons and neutrons. Although some of the standard shell closures can disappear, new ones are known to appear. Studies aiming to identify and understand such behaviour are of major importance in the field of experimental and theoretical nuclear physics. Here we report a spectroscopic study of the neutron-rich nucleus (54)Ca (a bound system composed of 20 protons and 34 neutrons) using proton knockout reactions involving fast radioactive projectiles. The results highlight the doubly magic nature of (54)Ca and provide direct experimental evidence for the onset of a sizable subshell closure at neutron number 34 in isotopes far from stability.
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We perform the first direct mass measurements of neutron-rich calcium isotopes beyond neutron number 34 at the RIKEN Radioactive Isotope Beam Factory by using the time-of-flight magnetic-rigidity technique. The atomic mass excesses of ^{55-57}Ca are determined for the first time to be -18650(160), -13510(250), and -7370(990) keV, respectively. We examine the emergence of neutron magicity at N=34 based on the new atomic masses. The new masses provide experimental evidence for the appearance of a sizable energy gap between the neutron 2p_{1/2} and 1f_{5/2} orbitals in ^{54}Ca, comparable to the gap between the neutron 2p_{3/2} and 2p_{1/2} orbitals in ^{52}Ca. For the ^{56}Ca nucleus, an open-shell property in neutrons is suggested.
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In an experiment with the BigRIPS separator at the RIKEN Nishina Center, we observed two-proton (2p) emission from ^{67}Kr. At the same time, no evidence for 2p emission of ^{59}Ge and ^{63}Se, two other potential candidates for this exotic radioactivity, could be observed. This observation is in line with Q value predictions which pointed to ^{67}Kr as being the best new candidate among the three for two-proton radioactivity. ^{67}Kr is only the fourth 2p ground-state emitter to be observed with a half-life of the order of a few milliseconds. The decay energy was determined to be 1690(17) keV, the 2p emission branching ratio is 37(14)%, and the half-life of ^{67}Kr is 7.4(30) ms.
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The low-lying structure of the neutron-rich nucleus (50)Ar has been investigated at the Radioactive Isotope Beam Factory using in-beam γ-ray spectroscopy with (9)Be((54)Ca,(50)Ar+γ)X, (9)Be((55)Sc,(50)Ar+γ)X, and (9)Be((56)Ti,(50)Ar+γ)X multinucleon removal reactions at â¼220 MeV/u. A γ-ray peak at 1178(18) keV is reported and assigned as the transition from the first 2(+) state to the 0(+) ground state. A weaker, tentative line at 1582(38) keV is suggested as the 4(1)(+)â2(1)(+) transition. The experimental results are compared to large-scale shell-model calculations performed in the sdpf model space using the SDPF-MU effective interaction with modifications based on recent experimental data for exotic calcium and potassium isotopes. The modified Hamiltonian provides a satisfactory description of the new experimental results for (50)Ar and, more generally, reproduces the energy systematics of low-lying states in neutron-rich Ar isotopes rather well. The shell-model calculations indicate that the N=32 subshell gap in (50)Ar is similar in magnitude to those in (52)Ca and (54)Ti and, notably, predict an N=34 subshell closure in (52)Ar that is larger than the one recently reported in (54)Ca.
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BACKGROUND: In this randomized controlled trial, we examined whether intra- and postoperative infusion of low-dose ketamine decreased postoperative morphine requirement and morphine-related adverse effects as nausea and vomiting after scoliosis surgery. METHODS: After IRB approval and informed consent, 36 patients, aged 10-19 years, undergoing posterior correction surgery for adolescent idiopathic scoliosis, were randomly allocated into two groups: intra- and postoperative ketamine infusion at a rate of 2 µg/kg/min until 48 h after surgery (ketamine group, n = 17) or infusion of an equal volume of saline (placebo group, n = 19). All patients were administered total intravenous anesthesia with propofol and remifentanil during surgery and intravenous morphine using a patient-controlled analgesia device after surgery. The primary outcome was cumulative morphine consumption in the initial 48 h after surgery. Pain scores (Numerical Rating Scale, NRS, 0-10), sedation scales, incidence of postoperative nausea and vomiting (PONV), and antiemetic consumption were recorded by nurses blinded to the study protocol for 48 h after surgery. RESULTS: Patient characteristics did not differ between the two groups. Cumulative morphine consumption for 48 h after surgery was significantly lower in the ketamine group compared to the placebo group (0.89 ± 0.08 mg/kg vs. 1.16 ± 0.07 mg/kg, 95% confidence interval for difference between the means, 0.03-0.48 mg/kg, P = 0.019). NRS pain, sedation scales, and incidence of PONV did not differ between the two groups. Antiemetic consumption was significantly smaller in ketamine group. CONCLUSIONS: Intra- and postoperative infusion of low-dose ketamine reduced cumulative morphine consumption and antiemetic requirement for 48 h after surgery.
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Ketamina/administração & dosagem , Escoliose/cirurgia , Adolescente , Criança , Feminino , Humanos , Masculino , Morfina/administração & dosagem , Dor Pós-Operatória/prevenção & controle , Náusea e Vômito Pós-Operatórios/prevenção & controle , Adulto JovemRESUMO
Red-fleshed oranges (Citrus sinensis) contain high levels of carotenoids and lycopene. The growing consumer demand for products with health benefits has increased interest in these types of Citrus cultivars as a potential source of nutraceuticals. However, little is known about the physiology of these cultivars under Brazilian conditions. Transcriptome and gene expression analyses are important tools in the breeding and management of red-fleshed sweet orange cultivars. Reverse transcription quantitative polymerase chain reaction is a method of quantifying gene expression, but various standardizations are required to obtain precise, accurate, and specific results. Among the standardizations required, the choice of suitable stable reference genes is fundamental. The objective of this study was to evaluate the stability of 11 candidate genes using various tissue and organ samples from healthy plants or leaves from citrus greening disease (Huanglongbing)-symptomatic plants of a Brazilian red-fleshed cultivar ('Sanguínea de Mombuca'), in order to select the most suitable reference gene for investigating gene expression under these conditions. geNorm and NormFinder identified genes that encoded translation initiation factor 3, ribosomal protein L35, and translation initiation factor 5A as the most stable genes under the biological conditions tested, and genes coding actin (ACT) and the subunit of the PSI reaction center subunit III were the least stable. Phosphatase, malate dehydrogenase, and ACT were the most stable genes in the leaf samples of infected plants.
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Citrus sinensis/genética , Regulação da Expressão Gênica de Plantas , Genes de Plantas , Transcriptoma , Biologia Computacional/métodos , Variação GenéticaRESUMO
A new isomer with a half-life of 23.0(8) ms has been identified at 2406 keV in (126)Pd and is proposed to have a spin and parity of 10(+) with a maximally aligned configuration comprising two neutron holes in the 1h(11/2) orbit. In addition to an internal-decay branch through a hindered electric octupole transition, ß decay from the long-lived isomer was observed to populate excited states at high spins in (126)Ag. The smaller energy difference between the 10(+) and 7(-) isomers in (126)Pd than in the heavier N=80 isotones can be interpreted as being ascribed to the monopole shift of the 1h(11/2) neutron orbit. The effects of the monopole interaction on the evolution of single-neutron energies below (132)Sn are discussed in terms of the central and tensor forces.
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To detect and track structural changes in atomic nuclei, the systematic study of nuclear levels with firm spin-parity assignments is important. While linear polarization measurements have been applied to determine the electromagnetic character of gamma-ray transitions, the applicable range is strongly limited due to the low efficiency of the detection system. The multi-layer Cadmium-Telluride (CdTe) Compton camera can be a state-of-the-art gamma-ray polarimeter for nuclear spectroscopy with the high position sensitivity and the detection efficiency. We demonstrated the capability to operate this detector as a reliable gamma-ray polarimeter by using polarized 847-keV gamma rays produced by the [Formula: see text]([Formula: see text]) reaction. By combining the experimental data and simulated calculations, the modulation curve for the gamma ray was successfully obtained. A remarkably high polarization sensitivity was achieved, compatible with a reasonable detection efficiency. Based on the obtained results, a possible future gamma-ray polarimetery is discussed.
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The level structures of the very neutron-rich nuclei 128Pd and 126Pd have been investigated for the first time. In the r-process waiting-point nucleus 128Pd, a new isomer with a half-life of 5.8(8) µs is proposed to have a spin and parity of 8(+) and is associated with a maximally aligned configuration arising from the g(9/2) proton subshell with seniority υ=2. For 126Pd, two new isomers have been identified with half-lives of 0.33(4) and 0.44(3) µs. The yrast 2(+) energy is much higher in 128Pd than in 126Pd, while the level sequence below the 8(+) isomer in 128Pd is similar to that in the N=82 isotone 130Cd. The electric quadrupole transition that depopulates the 8(+) isomer in 128Pd is more hindered than the corresponding transition in 130Cd, as expected in the seniority scheme for a semimagic, spherical nucleus. These experimental findings indicate that the shell closure at the neutron number N=82 is fairly robust in the neutron-rich Pd isotopes.
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Exactly 100 years ago, in 1896, Pendred first described the association of congenital deafness with thyroid goitre (MM#274600). The incidence of Pendred syndrome is estimated at 7.5-10/100,000, and may be responsible for as much as 10% of hereditary deafness. The cause of the congenital deafness in Pendred syndrome is obscure, although a Mondini type malformation of the cochlea exists in some patients. The reason for the association between the thyroid and cochlear defects is similarly obscure, leading some investigators to suggest that the two recessive defects may be occurring together by chance in highly consanguineous families. An in vivo defect in thyroid iodine organification in Pendred syndrome patients has been reported. However, the molecular basis of this defect is unknown and the presence of an intrinsic thyroidal defect has not been conclusively demonstrated. We have adopted a genetic linkage study as a first step towards identifying the gene. The availability of an inbred Pendred syndrome kindred allowed us to utilize an efficient DNA pooling strategy to perform a genome-wide linkage search for the disease locus. In this way, we have mapped the disease locus to an approximately 9-cM interval between GATA23F5 and D7S687 on chromosome 7. In addition, we demonstrate an intrinsic thyroid iodine organification defect in a patient's thyroid cells as the cause of the thyroid dysfunction.
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Cromossomos Humanos Par 7/genética , Surdez/genética , Bócio/genética , Iodo/metabolismo , Glândula Tireoide/metabolismo , Mapeamento Cromossômico , Surdez/congênito , Surdez/etiologia , Feminino , Ligação Genética , Marcadores Genéticos , Bócio/etiologia , Humanos , Técnicas In Vitro , Iodeto Peroxidase/genética , Masculino , Linhagem , Síndrome , Tireoglobulina/genéticaRESUMO
A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to human chromosome 6p25. These disorders have been postulated to be either allelic to each other or associated with a cluster of tightly linked genes. We have identified two primary congenital glaucoma (PCG) patients with chromosomal anomalies involving 6p25. In order to identify a gene involved in PCG, the chromosomal breakpoints in a patient with a balanced translocation between 6p25 and 13q22 were cloned. Cloning of the 6p25 breakpoint led to the identification of two candidate genes based on proximity to the breakpoint. One of these, FKHL7, encoding a forkhead transcription factor, is in close proximity to the breakpoint in the balanced translocation patient and is deleted in a second PCG patient with partial 6p monosomy. Furthermore, FKHL7 was found to harbour mutations in patients diagnosed with Rieger anomaly (RA), Axenfeld anomaly (AA) and iris hypoplasia (IH). This study demonstrates that mutations in FKHL7 cause a spectrum of glaucoma phenotypes.
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Cromossomos Humanos Par 6 , Proteínas de Ligação a DNA/genética , Glaucoma/genética , Fatores de Transcrição/genética , Anormalidades Múltiplas/genética , Sequência de Aminoácidos , Sequência de Bases , Mapeamento Cromossômico , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 2 , Proteínas de Ligação a DNA/fisiologia , Feminino , Fatores de Transcrição Forkhead , Expressão Gênica , Glaucoma/patologia , Humanos , Hidroliases/genética , Masculino , Dados de Sequência Molecular , Linhagem , Fenótipo , Polimorfismo Conformacional de Fita Simples , Alinhamento de Sequência , Fatores de Transcrição/fisiologia , Translocação GenéticaRESUMO
Malattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) refer to two autosomal dominant diseases characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium (RPE). Both loci were mapped to chromosome 2p16-21 (refs 5,6) and this genetic interval has been subsequently narrowed. The importance of these diseases is due in large part to their close phenotypic similarity to age-related macular degeneration (AMD), a disorder with a strong genetic component that accounts for approximately 50% of registered blindness in the Western world. Just as in ML and DHRD, the early hallmark of AMD is the presence of drusen. Here we use a combination of positional and candidate gene methods to identify a single non-conservative mutation (Arg345Trp) in the gene EFEMP1 (for EGF-containing fibrillin-like extracellular matrix protein 1) in all families studied. This change was not present in 477 control individuals or in 494 patients with age-related macular degeneration. Identification of this mutation may aid in the development of an animal model for drusen, as well as in the identification of other genes involved in human macular degeneration.
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Cromossomos Humanos Par 2 , Distrofias Hereditárias da Córnea/genética , Proteínas da Matriz Extracelular/genética , Mutação Puntual , Drusas Retinianas/genética , Envelhecimento , Substituição de Aminoácidos , Animais , Mapeamento Cromossômico , Cromossomos Artificiais de Levedura , Distrofias Hereditárias da Córnea/fisiopatologia , Feminino , Angiofluoresceinografia , Regulação da Expressão Gênica , Humanos , Masculino , Camundongos , Epitélio Pigmentado Ocular/patologia , Drusas Retinianas/fisiopatologia , Transcrição GênicaRESUMO
Heavy ion beam probe (HIBP) systems have been designed for the new tokamak, PLATO [A. Fujisawa, AIP Conf. Proc. 1993, 020011 (2018)]. The designs have been completed, and the installations are in progress. Two HIBPs are being installed in toroidal sections 180° apart to investigate long-range correlations in the toroidal direction. Each HIBP consists of an injection beamline and a detection beamline as usual. Yet, one of the HIBPs is equipped with an additional detection beamline; the measurement positions of its two detection beamlines can be placed on almost the same magnetic surface yet at poloidal angles that differ by â¼180°. The use of three detection beamlines allows us to investigate spatial asymmetry and long-range correlations in both the toroidal and poloidal directions, simultaneously. The detected beam intensity is expected to be enough for turbulence measurements in almost the entire plasma region when the electron density is up to 1 × 1019 m-3 by selecting appropriate ion species for the probe beam. Each detector has three channels 10 mm apart, allowing measurement of local structures of micro-scale turbulence. Therefore, using the HIBPs on the PLATO tokamak will enable both local and global properties of plasma turbulence to be investigated, simultaneously.
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Reaction cross sections (sigma(R)) for 19C, 20C and the drip-line nucleus 22C on a liquid hydrogen target have been measured at around 40A MeV by a transmission method. A large enhancement of sigma(R) for 22C compared to those for neighboring C isotopes was observed. Using a finite-range Glauber calculation under an optical-limit approximation the rms matter radius of 22C was deduced to be 5.4+/-0.9 fm. It does not follow the systematic behavior of radii in carbon isotopes with N < or = 14, suggesting a neutron halo. It was found by an analysis based on a few-body Glauber calculation that the two-valence neutrons in 22C preferentially occupy the 1s(1/2) orbital.
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Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular pressure. Analyses of sequence tagged site (STS) content and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma (GLC1A) were used to prioritize candidate genes for mutation screening. A gene encoding a trabecular meshwork protein (TIGR) mapped to the narrowest disease interval by STS content and radiation hybrid mapping. Thirteen glaucoma patients were found to have one of three mutations in this gene (3.9 percent of the population studied). One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies.
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Cromossomos Humanos Par 1 , Proteínas do Olho/genética , Glaucoma de Ângulo Aberto/genética , Glicoproteínas , Malha Trabecular/metabolismo , Sequência de Bases , Mapeamento Cromossômico , Cromossomos Artificiais de Levedura , Proteínas do Citoesqueleto , Feminino , Ligação Genética , Haplótipos , Humanos , Masculino , Dados de Sequência Molecular , Mutação , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita Simples , Sitios de Sequências RotuladasRESUMO
Bardet-Biedl syndrome (BBS) has been shown to be a genetically heterogeneous disorder involving genes mapping to at least six known loci. One BBS gene (MKKS) has been identified and the form of the disorder caused by this gene is allelic to McKusick-Kaufman syndrome. MKKS codes for a putative chaperonin, suggesting that other BBS genes may also code for components of chaperone complexes or be substrates of chaperone function.
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Síndrome de Bardet-Biedl/genética , Peptídeos e Proteínas de Sinalização Intracelular , Proteínas Associadas aos Microtúbulos , Animais , Chaperoninas/fisiologia , Mapeamento Cromossômico , Clonagem Molecular , Chaperoninas do Grupo II , Humanos , Chaperonas Moleculares/genética , Proteínas Nucleares/fisiologia , Ubiquitina-Proteína Ligases , Região do Complexo-t do GenomaRESUMO
The recent progress seen in the development of high-quality genetic markers and high-density human genetic maps is facilitating new strategies for mapping disease-causing and disease-susceptibility genes. These strategies, which include homozygosity mapping, DNA pooling, and the utilization of linkage disequilibrium, have been successfully applied to the mapping and fine mapping of several loci causing diseases segregating in genetically isolated populations.
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Mapeamento Cromossômico/métodos , DNA/análise , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Marcadores Genéticos , Genótipo , Humanos , LinhagemRESUMO
Radial imaging techniques, such as projection-reconstruction (PR), are used in magnetic resonance imaging (MRI) for dynamic imaging, angiography, and short-T(2) imaging. They are robust to flow and motion, have diffuse aliasing patterns, and support short readouts and echo times. One drawback is that standard implementations do not support anisotropic field-of-view (FOV) shapes, which are used to match the imaging parameters to the object or region-of-interest. A set of fast, simple algorithms for 2-D and 3-D PR, and 3-D cones acquisitions are introduced that match the sampling density in frequency space to the desired FOV shape. Tailoring the acquisitions allows for reduction of aliasing artifacts in undersampled applications or scan time reductions without introducing aliasing in fully-sampled applications. It also makes possible new radial imaging applications that were previously unsuitable, such as imaging elongated regions or thin slabs. 2-D PR longitudinal leg images and thin-slab, single breath-hold 3-D PR abdomen images, both with isotropic resolution, demonstrate these new possibilities. No scan time to volume efficiency is lost by using anisotropic FOVs. The acquisition trajectories can be computed on a scan by scan basis.