| 1. |
- Abdellaoui, G., et al.
(författare)
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First observations of speed of light tracks by a fluorescence detector looking down on the atmosphere
- 2018
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Ingår i: Journal of Instrumentation. - : IOP PUBLISHING LTD. - 1748-0221. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- EUSO-Balloon is a pathfinder mission for the Extreme Universe Space Observatory onboard the Japanese Experiment Module (JEM-EUSO). It was launched on the moonless night of the 25(th) of August 2014 from Timmins, Canada. The flight ended successfully after maintaining the target altitude of 38 km for five hours. One part of the mission was a 2.5 hour underflight using a helicopter equipped with three UV light sources (LED, xenon flasher and laser) to perform an inflight calibration and examine the detectors capability to measure tracks moving at the speed of light. We describe the helicopter laser system and details of the underflight as well as how the laser tracks were recorded and found in the data. These are the first recorded laser tracks measured from a fluorescence detector looking down on the atmosphere. Finally, we present a first reconstruction of the direction of the laser tracks relative to the detector.
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| 2. |
- Rosenberg, D., et al.
(författare)
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3D integrated superconducting qubits
- 2017
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Ingår i: npj Quantum Information. - : Springer Science and Business Media LLC. - 2056-6387. ; 3
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Tidskriftsartikel (refereegranskat)abstract
- As the field of quantum computing advances from the few-qubit stage to larger-scale processors, qubit addressability and extensibility will necessitate the use of 3D integration and packaging. While 3D integration is well-developed for commercial electronics, relatively little work has been performed to determine its compatibility with high-coherence solid-state qubits. Of particular concern, qubit coherence times can be suppressed by the requisite processing steps and close proximity of another chip. In this work, we use a flip-chip process to bond a chip with superconducting flux qubits to another chip containing structures for qubit readout and control. We demonstrate that high qubit coherence (T1, T2, echo > 20 μs) is maintained in a flip-chip geometry in the presence of galvanic, capacitive, and inductive coupling between the chips.
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| 3. |
- Yang, B., et al.
(författare)
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Exploring high-energy doubly excited states of NH by dissociative recombination of NH
- 2014
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Ingår i: Journal of Physics B. - : IOP Publishing. - 0953-4075 .- 1361-6455. ; 47:3, s. 035201-
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Tidskriftsartikel (refereegranskat)abstract
- We have investigated electron capture by NH+ resulting in dissociative recombination (DR). The impact energies studied of similar to 4-12 eV extend over the range below the two lowest predicted NH+ dissociative states in the Franck-Condon (FC) region of the ion. Our focus has been on the final state populations of the resulting N and H atoms. The neutral DR fragments are detected downstream of a merged electron and ion beam interaction zone in the TSR storage ring, which is located at the Max Planck Institute for Nuclear Physics in Heidelberg, Germany. Transverse fragment distances were measured on a recently developed high count-rate imaging detector. The distance distributions enabled a detailed tracking of the final state populations as a function of the electron collision energy. These can be correlated with doubly excited neutral states in the FC region of the ion. At low electron energy of similar to 5 eV, the atomic product final levels are nitrogen Rydberg states together with ground-state hydrogen. In a small electron energy interval near 7 eV, a significant part of the final state population forms hydrogen Rydberg atoms with nitrogen atoms in the first excited (D-2) term, showing the effect of Rydberg doubly excited states below the predicted 2(2)Pi ionic potential. The distance distributions above similar to 10 eV are compatible with nitrogen Rydberg states correlating to the doubly excited Rydberg state manifold below the ionic 2(4) Sigma(-) level.
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| 4. |
- Concepcion Gil-Rodriguez, Maria, et al.
(författare)
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De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
- 2015
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Ingår i: Human Mutation. - : Wiley: 12 months. - 1059-7794 .- 1098-1004. ; 36:4, s. 454-462
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Tidskriftsartikel (refereegranskat)abstract
- Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximate to 1%-2% of CdLS-like phenotypes.
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| 5. |
- Novotny, O., et al.
(författare)
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DISSOCIATIVE RECOMBINATION MEASUREMENTS OF HCl+ USING AN ION STORAGE RING
- 2013
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 777:1, s. 54-
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Tidskriftsartikel (refereegranskat)abstract
- We have measured dissociative recombination (DR) of HCl+ with electrons using a merged beams configuration at the TSR heavy-ion storage ring located at the Max Planck Institute for Nuclear Physics in Heidelberg, Germany. We present the measured absolute merged beams recombination rate coefficient for collision energies from 0 to 4.5 eV. We have also developed a new method for deriving the cross section from the measurements. Our approach does not suffer from approximations made by previously used methods. The cross section was transformed to a plasma rate coefficient for the electron temperature range from T = 10 to 5000 K. We show that the previously used HCl+ DR data underestimate the plasma rate coefficient by a factor of 1.5 at T = 10 K and overestimate it by a factor of three at T = 300 K. We also find that the new data may partly explain existing discrepancies between observed abundances of chlorine-bearing molecules and their astrochemical models.
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| 6. |
- Novotný, O., et al.
(författare)
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DISSOCIATIVE RECOMBINATION MEASUREMENTS OF NH+ USING AN ION STORAGE RING
- 2014
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 792:2
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Tidskriftsartikel (refereegranskat)abstract
- We have investigated dissociative recombination (DR) of NH+ with electrons using a merged beams configuration at the TSR heavy-ion storage ring located at the Max Planck Institute for Nuclear Physics in Heidelberg, Germany. We present our measured absolute merged-beams recombination rate coefficient for collision energies from 0 to 12 eV. From these data, we have extracted a cross section, which we have transformed to a plasma rate coefficient for the collisional plasma temperature range from T-p1 = 10 to 18,000 K. We show that the NH+ DR rate coefficient data in current astrochemical models are underestimated by up to a factor of approximately nine. Our new data will result in predicted NH+ abundances lower than those calculated by present models. This is in agreement with the sensitivity limits of all observations attempting to detect NH+ in interstellar clouds.
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| 7. |
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| 8. |
- Kannan, Bharath, et al.
(författare)
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Generating spatially entangled itinerant photons with waveguide quantum electrodynamics
- 2020
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Ingår i: Science advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 6:41
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Tidskriftsartikel (refereegranskat)abstract
- Realizing a fully connected network of quantum processors requires the ability to distribute quantum entanglement. For distant processing nodes, this can be achieved by generating, routing, and capturing spatially entangled itinerant photons. In this work, we demonstrate the deterministic generation of such photons using superconducting transmon qubits that are directly coupled to a waveguide. In particular, we generate two-photon N00N states and show that the state and spatial entanglement of the emitted photons are tunable via the qubit frequencies. Using quadrature amplitude detection, we reconstruct the moments and correlations of the photonic modes and demonstrate state preparation fidelities of 84%. Our results provide a path toward realizing quantum communication and teleportation protocols using itinerant photons generated by quantum interference within a waveguide quantum electrodynamics architecture.
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| 9. |
- Kjaergaard, M., et al.
(författare)
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Demonstration of Density Matrix Exponentiation Using a Superconducting Quantum Processor
- 2022
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Ingår i: Physical Review X. - 2160-3308. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Quantum computers hold the potential to outperform classical supercomputers at certain tasks. To implement algorithms on a quantum computer, programmers use conventional computers and hardware to create a set of classical control signals that implement a desired quantum algorithm. However, feeding the quantum information forward requires an inefficient conversion: extraction of quantum information, conversion to classical control signals, and reinjection of those signals into the system to implement quantum operations. Here, we demonstrate a more natively quantum strategy to programming quantum computers. Our approach uses the density matrix exponentiation (DME) protocol, a general technique for using a quantum state to enact a quantum operation. It can be thought of as a subroutine with which programmers can turn multiple copies of a quantum state into instructions for next steps in a quantum algorithm.We implement DME using two qubits in a superconducting quantum processor. Our implementation relies on a high-fidelity two-qubit gate and a novel technique called quantum measurement emulation to approximately reset a known quantum state. These developments enable us to demonstrate the DME protocol for the first time on a small-scale quantum processor and benchmark its performance.While DME was originally proposed in the context of a specific quantum machine-learning algorithm, it may also represent a fundamentally different approach to quantum programming. It allows the possibility of encoding quantum algorithms directly into quantum states and executing those algorithms on other quantum states, enabling a new class of efficient quantum algorithms.
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| 10. |
- Krantz, Christina, et al.
(författare)
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Cross-sectional study on exhaled nitric oxide in relation to upper airway inflammatory disorders with regard to asthma and perennial sensitization
- 2022
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Ingår i: Clinical and Experimental Allergy. - : Wiley. - 0954-7894 .- 1365-2222. ; 52:2, s. 297-311
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Tidskriftsartikel (refereegranskat)abstract
- Background Fractional exhaled nitric oxide (FeNO) is a well-known marker of type-2 inflammation. FeNO is elevated in asthma and allergic rhinitis, with IgE sensitization as a major determinant. Objective We aimed to see whether there was an independent association between upper airway inflammatory disorders (UAID) and FeNO, after adjustment for asthma and sensitization, in a multi-centre population-based study. Methods A total of 741 subjects with current asthma and 4155 non-asthmatic subjects participating in the second follow-up of the European Community Respiratory Health Survey (ECRHS III) underwent FeNO measurements. Sensitization status was based on measurement of IgE against airborne allergens; information on asthma, UAID and medication was collected through interview-led questionnaires. Independent associations between UAID and FeNO were assessed in adjusted multivariate regression models and test for interaction with perennial sensitization and asthma on the relation between UAID and FeNO were made. Results UAID were associated with higher FeNO after adjusting for perennial sensitization, asthma and other confounders: with 4.4 (0.9-7.9) % higher FeNO in relation to current rhinitis and 4.8 (0.7-9.2) % higher FeNO in relation to rhinoconjunctivitis. A significant interaction with perennial sensitization was found in the relationship between current rhinitis and FeNO (p = .03) and between rhinoconjunctivitis and FeNO (p = .03). After stratification by asthma and perennial sensitization, the association between current rhinitis and FeNO remained in non-asthmatic subjects with perennial sensitization, with 12.1 (0.2-25.5) % higher FeNO in subjects with current rhinitis than in those without. Conclusions & Clinical Relevance Current rhinitis and rhinoconjunctivitis was associated with higher FeNO, with an interaction with perennial sensitization. This further highlights the concept of united airway disease, with correlations between symptoms and inflammation in the upper and lower airways and that sensitization needs to be accounted for in the relation between FeNO and rhinitis.
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| 11. |
- Novotny, O., et al.
(författare)
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Dissociative Recombination Measurements of Chloronium Ions (D2Cl+) Using an Ion Storage Ring
- 2018
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 862:2
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Tidskriftsartikel (refereegranskat)abstract
- We report our plasma rate coefficient and branching ratio measurements for dissociative recombination (DR) of D2Cl+ with electrons. The studies were performed in a merged-beams configuration using the TSR heavy-ion storage ring located at the Max Planck Institute for Nuclear Physics in Heidelberg, Germany. Starting with our absolute merged-beams recombination rate coefficient at a collision energy of approximate to 0 eV, we have extracted the cross section and produced a plasma rate coefficient for a translational temperature of approximate to 8 K. Furthermore, extrapolating our cross-section results using the typical low-energy DR behavior, we have generated a plasma rate coefficient for translational temperatures from 5 to 500 K. We find good agreement between our extrapolated results and previous experimental DR studies on D2Cl+. Additionally, we have investigated the three fragmentation channels for DR of D2Cl+. Here we report on the dissociation geometry of the three-body fragmentation channel, the kinetic energy released for each of the three outgoing channels, the molecular internal excitation for the two outgoing channels that produce molecular fragments, and the fragmentation branching ratios for all three channels. Our results, in combination with those of other groups, indicate that any remaining uncertainties in the DR rate coefficient for H2Cl+ appear unlikely to explain the observed discrepancies between the inferred abundances of HCl and H2Cl+ in molecular clouds and predictions from astrochemical models.
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| 12. |
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| 13. |
- Bourre-Tessier, Josiane, et al.
(författare)
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Electrocardiographic Findings in Systemic Lupus Erythematosus: Data From an International Inception Cohort
- 2015
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Ingår i: Arthritis Care and Research. - : Wiley. - 2151-4658 .- 2151-464X. ; 67:1, s. 128-135
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Tidskriftsartikel (refereegranskat)abstract
- Objective. To estimate the early prevalence of various electrocardiographic (EKG) abnormalities in patients with systemic lupus erythematosus (SLE) and to evaluate possible associations between repolarization changes (increased corrected QT [QTc] and QT dispersion [QTd]) and clinical and laboratory variables, including the anti-Ro/SSA level and specificity (52 or 60 kd). Methods. We studied adult SLE patients from 19 centers participating in the Systemic Lupus International Collaborating Clinics (SLICC) Inception Registry. Demographics, disease activity (Systemic Lupus Erythematosus Disease Activity Index 2000 [SLEDAI-2K]), disease damage (SLICC/American College of Rheumatology Damage Index [SDI]), and laboratory data from the baseline or first followup visit were assessed. Multivariate logistic and linear regression models were used to asses for any cross-sectional associations between anti-Ro/SSA and EKG repolarization abnormalities. Results. For the 779 patients included, mean +/- SD age was 35.2 +/- 13.8 years, 88.4% were women, and mean +/- SD disease duration was 10.5 +/- 14.5 months. Mean +/- SD SLEDAI-2K score was 5.4 +/- 5.6 and mean +/- SD SDI score was 0.5 +/- 1.0. EKG abnormalities were frequent and included nonspecific ST-T changes (30.9%), possible left ventricular hypertrophy (5.4%), and supraventricular arrhythmias (1.3%). A QTc >= 440 msec was found in 15.3%, while a QTc >= 460 msec was found in 5.3%. Mean +/- SD QTd was 34.2 +/- 14.7 msec and QTd >= 40 msec was frequent (38.1%). Neither the specificity nor the level of anti-Ro/SSA was associated with QTc duration or QTd, although confidence intervals were wide. Total SDI was significantly associated with a QTc interval exceeding 440 msec (odds ratio 1.38 [95% confidence interval 1.06, 1.79]). Conclusion. A substantial proportion of patients with recent-onset SLE exhibited repolarization abnormalities, although severe abnormalities were rare.
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| 14. |
- Gutes, A., et al.
(författare)
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A flow injection voltammetric electronic tongue applied to paper mill industrial waters
- 2006
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Ingår i: Sensors and actuators. B, Chemical. - : Elsevier BV. - 0925-4005 .- 1873-3077. ; 115:1, s. 390-395
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Tidskriftsartikel (refereegranskat)abstract
- A voltammetric electronic tongue with automated operation based on the flow injection (FIA) technique was applied to the characterization of wastewaters coming from the paper mill industry. A metallic multielectrode array - formed by platinum, gold and rhodium electrodes - was employed as the detection system, while the measurements were based on large amplitude pulse voltammetry (LAPV). LAPV consisted in scans of pulses from to 0 to 1.8 V at 0.2 V steps. Five current values were recorded for each pulse, so a set of 300 current values (three electrodes × 20 pulses × five values) was recorded for each sample. Samples were first discriminated using Principal Component Analysis (PCA), while Artificial Neural Networks were used for the characterization and prediction of chemical oxygen demand, conductivity and pH. The system may be used for the quick identification and monitoring of the quality of used waters in these industrial facilities. © 2005 Elsevier B.V. All rights reserved.
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| 15. |
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| 16. |
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| 17. |
- Kannan, Bharath, et al.
(författare)
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Waveguide quantum electrodynamics with superconducting artificial giant atoms
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 583:7818, s. 775-779
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Tidskriftsartikel (refereegranskat)abstract
- Models of light–matter interactions in quantum electrodynamics typically invoke the dipole approximation1,2, in which atoms are treated as point-like objects when compared to the wavelength of the electromagnetic modes with which they interact. However, when the ratio between the size of the atom and the mode wavelength is increased, the dipole approximation no longer holds and the atom is referred to as a ‘giant atom’2,3. So far, experimental studies with solid-state devices in the giant-atom regime have been limited to superconducting qubits that couple to short-wavelength surface acoustic waves4–10, probing the properties of the atom at only a single frequency. Here we use an alternative architecture that realizes a giant atom by coupling small atoms to a waveguide at multiple, but well separated, discrete locations. This system enables tunable atom–waveguide couplings with large on–off ratios3 and a coupling spectrum that can be engineered by the design of the device. We also demonstrate decoherence-free interactions between multiple giant atoms that are mediated by the quasi-continuous spectrum of modes in the waveguide—an effect that is not achievable using small atoms11. These features allow qubits in this architecture to switch between protected and emissive configurations in situ while retaining qubit–qubit interactions, opening up possibilities for high-fidelity quantum simulations and non-classical itinerant photon generation12,13.
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| 18. |
- Kjaergaard, M., et al.
(författare)
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Superconducting Qubits: Current State of Play
- 2020
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Ingår i: Annual Review of Condensed Matter Physics. - : Annual Reviews. - 1947-5454 .- 1947-5462. ; 11, s. 369-395
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Forskningsöversikt (refereegranskat)abstract
- Superconducting qubits are leading candidates in the race to build a quantum computer capable of realizing computations beyond the reach of modern supercomputers. The superconducting qubit modality has been used to demonstrate prototype algorithms in the noisy intermediate-scale quantum (NISQ) technology era, in which non-error-corrected qubits are used to implement quantum simulations and quantum algorithms. With the recent demonstrations of multiple high-fidelity, two-qubit gates as well as operations on logical qubits in extensible superconducting qubit systems, this modality also holds promise for the longer-term goal of building larger-scale error-corrected quantum computers. In this brief review, we discuss several of the recent experimental advances in qubit hardware, gate implementations, readout capabilities, early NISQ algorithm implementations, and quantum error correction using superconducting qubits. Although continued work on many aspects of this technology is certainly necessary, the pace of both conceptual and technical progress in recent years has been impressive, and here we hope to convey the excitement stemming from this progress.
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| 19. |
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| 20. |
- Krantz, Marcus, 1975-, et al.
(författare)
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A detailed molecular network map and model of the NLRP3 inflammasome
- 2023
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Ingår i: Frontiers in Immunology. - : Frontiers Media S.A.. - 1664-3224. ; 14
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Tidskriftsartikel (refereegranskat)abstract
- The NLRP3 inflammasome is a key regulator of inflammation that responds to a broad range of stimuli. The exact mechanism of activation has not been determined, but there is a consensus on cellular potassium efflux as a major common denominator. Once NLRP3 is activated, it forms high-order complexes together with NEK7 that trigger aggregation of ASC into specks. Typically, there is only one speck per cell, consistent with the proposal that specks form - or end up at - the centrosome. ASC polymerisation in turn triggers caspase-1 activation, leading to maturation and release of IL-1β and pyroptosis, i.e., highly inflammatory cell death. Several gain-of-function mutations in the NLRP3 inflammasome have been suggested to induce spontaneous activation of NLRP3 and hence contribute to development and disease severity in numerous autoinflammatory and autoimmune diseases. Consequently, the NLRP3 inflammasome is of significant clinical interest, and recent attention has drastically improved our insight in the range of involved triggers and mechanisms of signal transduction. However, despite recent progress in knowledge, a clear and comprehensive overview of how these mechanisms interplay to shape the system level function is missing from the literature. Here, we provide such an overview as a resource to researchers working in or entering the field, as well as a computational model that allows for evaluating and explaining the function of the NLRP3 inflammasome system from the current molecular knowledge. We present a detailed reconstruction of the molecular network surrounding the NLRP3 inflammasome, which account for each specific reaction and the known regulatory constraints on each event as well as the mechanisms of drug action and impact of genetics when known. Furthermore, an executable model from this network reconstruction is generated with the aim to be used to explain NLRP3 activation from priming and activation to the maturation and release of IL-1β and IL-18. Finally, we test this detailed mechanistic model against data on the effect of different modes of inhibition of NLRP3 assembly. While the exact mechanisms of NLRP3 activation remains elusive, the literature indicates that the different stimuli converge on a single activation mechanism that is additionally controlled by distinct (positive or negative) priming and licensing events through covalent modifications of the NLRP3 molecule. Taken together, we present a compilation of the literature knowledge on the molecular mechanisms on NLRP3 activation, a detailed mechanistic model of NLRP3 activation, and explore the convergence of diverse NLRP3 activation stimuli into a single input mechanism.
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| 21. |
- Krantz, Philip, 1984, et al.
(författare)
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A quantum engineer's guide to superconducting qubits
- 2019
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Ingår i: Applied Physics Reviews. - : AIP Publishing. - 1931-9401. ; 6:2
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this review is to provide quantum engineers with an introductory guide to the central concepts and challenges in the rapidly accelerating field of superconducting quantum circuits. Over the past twenty years, the field has matured from a predominantly basic research endeavor to a one that increasingly explores the engineering of larger-scale superconducting quantum systems. Here, we review several foundational elements-qubit design, noise properties, qubit control, and readout techniques-developed during this period, bridging fundamental concepts in circuit quantum electrodynamics and contemporary, state-of-The-Art applications in gate-model quantum computation.
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| 22. |
- Kreckel, Holger, et al.
(författare)
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High-resolution storage-ring measurements of the dissociative recombination of H-3(+) using a supersonic expansion ion source
- 2010
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Ingår i: Physical Review A. Atomic, Molecular, and Optical Physics. - 1050-2947 .- 1094-1622. ; 82:4, s. 042715-
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Tidskriftsartikel (refereegranskat)abstract
- We have performed measurements of the dissociative electron recombination (DR) of H-3(+) at the ion storage ring TSR utilizing a supersonic expansion ion source. The ion source has been characterized by continuous wave cavity ring-down spectroscopy. We present high-resolution DR rate coefficients for different nuclear spin modifications of H-3(+) combined with precise fragment imaging studies of the internal excitation of the H-3(+) ions inside the storage ring. The measurements resolve changes in the energy dependence between the ortho-H-3(+) and para-H-3(+) rate coefficients at low center-of-mass collision energies. Analysis of the imaging data indicates that the stored H-3(+) ions may have higher rotational temperatures than previously assumed, most likely due to collisional heating during the extraction of the ions from the ion source. Simulations of the ion extraction shed light on possible origins of the heating process and how to avoid it in future experiments.
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| 23. |
- Majdi, Soodabeh, 1980, et al.
(författare)
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Electrochemical Measurements of Optogenetically Stimulated Quantal Amine Release from Single Nerve Cell Varicosities in Drosophila Larvae
- 2015
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Ingår i: Angewandte Chemie International Edition. - : Wiley. - 1433-7851 .- 1521-3773. ; 54:46, s. 13609-13612
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Tidskriftsartikel (refereegranskat)abstract
- The nerve terminals found in the body wall of Drosophila melanogaster larvae are readily accessible to experimental manipulation. We used the light-activated ion channel, channelrhodopsin-2, which is expressed by genetic manipulation in TypeII varicosities to study octopamine release in Drosophila. We report the development of a method to measure neurotransmitter release from exocytosis events at individual varicosities in the Drosophila larval system by amperometry. A microelectrode was placed in a region of the muscle containing a varicosity and held at a potential sufficient to oxidize octopamine and the terminal stimulated by blue light. Optical stimulation of TypeII boutons evokes exocytosis of octopamine, which is detected through oxidization at the electrode surface. We observe 22700 +/- 4200 molecules of octopamine released per vesicle. This system provides a genetically accessible platform to study the regulation of amine release at an intact synapse.
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| 24. |
- Miller, David T., et al.
(författare)
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Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- 2010
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 86:5, s. 749-764
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Tidskriftsartikel (refereegranskat)abstract
- Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.
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| 25. |
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