827 research outputs found
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Convective injection and photochemical decay of peroxides in the tropical upper troposphere: Methyl iodide as a tracer of marine convection
The convective injection and subsequent fate of the peroxides H2O2 and CH3OOH in the upper troposphere is investigated using aircraft observations from the NASA Pacific Exploratory Mission-Tropics A (PEM-Tropics A) over the South Pacific up to 12 km altitude. Fresh convective outflow is identified by high CH3I concentrations; CH3I is an excellent tracer of marine convection because of its relatively uniform marine boundary layer concentration, relatively well-defined atmospheric lifetime against photolysis, and high sensitivity of measurement. We find that mixing ratios of CH3OOH in convective outflow at 8-12 km altitude are enhanced on average by a factor of 6 relative to background, while mixing ratios of H2O2 are enhanced by less than a factor of 2. The scavenging efficiency of H2O2 in the precipitation associated with deep convection is estimated to be 55-70%. Scavenging of CH3OOH is negligible. Photolysis of convected peroxides is a major source of the HOx radical family (OH + peroxy radicals) in convective outflow. The timescale for decay of the convective enhancement of peroxides in the upper troposphere is determined using CH3I as a chemical clock and is interpreted using photochemical model calculations. Decline of CH3OOH takes place on a timescale of a 1-2 days, but the resulting HOx converts to H2O2, so H2O2 mixing ratios show no decline for ∼5 days following a convective event. The perturbation to HOx at 8-12 km altitude from deep convective injection of peroxides decays on a timescale of 2-3 days for the PEM-Tropics A conditions. Copyright 1999 by the American Geophysical Union
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On the origin of tropospheric ozone and NOx over the tropical South Pacific
The budgets of ozone and nitrogen oxides (NOx = NO + NO2) in the tropical South Pacific troposphere are analyzed by photochemical point modeling of aircraft observations at 0-12 km altitude from the Pacific Exploratory Mission-Tropics A campaign flown in September-October 1996. The model reproduces the observed NO2/NO concentration ratio to within 30% and has similar success in simulating observed concentrations of peroxides (H2O2, CH3OOH), lending confidence in its use to investigate ozone chemistry. It is found that chemical production of ozone balances only half of chemical loss in the tropospheric column over the tropical South Pacific. The net loss is 1.8 x 1011 molecules cm-2 s-1. The missing source of ozone is matched by westerly transport of continental pollution into the region. Independent analysis of the regional ozone budget with a global three-dimensional model corroborates the results from the point model and reveals the importance of biomass burning emissions in South America and Africa for the ozone budget over the tropical South Pacific. In this model, biomass burning increases average ozone concentrations by 7-8 ppbv throughout the troposphere. The NOx responsible for ozone production within the South Pacific troposphere below 4 km can be largely explained by decomposition of peroxyacetylnitrate (PAN) transported into the region with biomass burning pollution at higher altitudes. Copyright 1999 by the American Geophysical Union
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome
OBJECTIVE: To describe the genetic and clinical features of a simplex patient with distal hereditary motor neuropathy (dHMN) and lower limb spasticity (Silver-like syndrome) due to a mutation in the sigma nonopioid intracellular receptor-1 gene (SIGMAR1) and review the phenotypic spectrum of mutations in this gene. METHODS: We used whole-exome sequencing to investigate the proband. The variants of interest were investigated for segregation in the family using Sanger sequencing. Subsequently, a larger cohort of 16 unrelated dHMN patients was specifically screened for SIGMAR1 mutations. RESULTS: In the proband, we identified a homozygous missense variant (c.194T>A, p.Leu65Gln) in exon 2 of SIGMAR1 as the probable causative mutation. Pathogenicity is supported by evolutionary conservation, in silico analyses, and the strong phenotypic similarities with previously reported cases carrying coding sequence mutations in SIGMAR1. No other mutations were identified in 16 additional patients with dHMN. CONCLUSIONS: We suggest that coding sequence mutations in SIGMAR1 present clinically with a combination of dHMN and pyramidal tract signs, with or without spasticity, in the lower limbs. Preferential involvement of extensor muscles of the upper limbs may be a distinctive feature of the disease. These observations should be confirmed in future studies
Foreground Subtraction in Intensity Mapping with the SKA
21cm intensity mapping experiments aim to observe the diffuse neutral hydrogen (HI) distribution on large scales which traces the Cosmic structure. The Square Kilometre Array (SKA) will have the capacity to measure the 21cm signal over a large fraction of the sky. However, the redshifted 21cm signal in the respective frequencies is faint compared to the Galactic foregrounds produced by synchrotron and free-free electron emission. In this article, we review selected foreground subtraction methods suggested to effectively separate the 21cm signal from the foregrounds with intensity mapping simulations or data. We simulate an intensity mapping experiment feasible with SKA phase 1 including extragalactic and Galactic foregrounds. We give an example of the residuals of the foreground subtraction with a independent component analysis and show that the angular power spectrum is recovered within the statistical errors on most scales. Additionally, the scale of the Baryon Acoustic Oscillations is shown to be unaffected by foreground subtraction
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
Progressive external ophthalmoplegia is a common clinical feature in mitochondrial disease caused by nuclear DNA defects and single, large-scale mitochondrial DNA deletions and is less frequently associated with point mutations of mitochondrial DNA. Peripheral neuropathy is also a frequent manifestation of mitochondrial disease, although its prevalence and characteristics varies considerably among the different syndromes and genetic aetiologies. Based on clinical observations, we systematically investigated whether the presence of peripheral neuropathy could predict the underlying genetic defect in patients with progressive external ophthalmoplegia. We analysed detailed demographic, clinical and neurophysiological data from 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia. Seventy-eight patients (67%) had a single mitochondrial DNA deletion, 12 (10%) had a point mutation of mitochondrial DNA and 26 (22%) had mutations in either POLG, C10orf2 or RRM2B, or had multiple mitochondrial DNA deletions in muscle without an identified nuclear gene defect. Seventy-seven patients had neurophysiological studies; of these, 16 patients (21%) had a large-fibre peripheral neuropathy. The prevalence of peripheral neuropathy was significantly lower in patients with a single mitochondrial DNA deletion (2%) as compared to those with a point mutation of mitochondrial DNA or with a nuclear DNA defect (44% and 52%, respectively; P<0.001). Univariate analyses revealed significant differences in the distribution of other clinical features between genotypes, including age at disease onset, gender, family history, progressive external ophthalmoplegia at clinical presentation, hearing loss, pigmentary retinopathy and extrapyramidal features. However, binomial logistic regression analysis identified peripheral neuropathy as the only independent predictor associated with a nuclear DNA defect (P=0.002; odds ratio 8.43, 95% confidence interval 2.24-31.76). Multinomial logistic regression analysis identified peripheral neuropathy, family history and hearing loss as significant predictors of the genotype, and the same three variables showed the highest performance in genotype classification in a decision tree analysis. Of these variables, peripheral neuropathy had the highest specificity (91%), negative predictive value (83%) and positive likelihood ratio (5.87) for the diagnosis of a nuclear DNA defect. These results indicate that peripheral neuropathy is a rare finding in patients with single mitochondrial DNA deletions but that it is highly predictive of an underlying nuclear DNA defect. This observation may facilitate the development of diagnostic algorithms. We suggest that nuclear gene testing may enable a more rapid diagnosis and avoid muscle biopsy in patients with progressive external ophthalmoplegia and peripheral neuropathy
Searching for Exoplanets Using a Microresonator Astrocomb
Detection of weak radial velocity shifts of host stars induced by orbiting
planets is an important technique for discovering and characterizing planets
beyond our solar system. Optical frequency combs enable calibration of stellar
radial velocity shifts at levels required for detection of Earth analogs. A new
chip-based device, the Kerr soliton microcomb, has properties ideal for
ubiquitous application outside the lab and even in future space-borne
instruments. Moreover, microcomb spectra are ideally suited for astronomical
spectrograph calibration and eliminate filtering steps required by conventional
mode-locked-laser frequency combs. Here, for the calibration of astronomical
spectrographs, we demonstrate an atomic/molecular line-referenced,
near-infrared soliton microcomb. Efforts to search for the known exoplanet HD
187123b were conducted at the Keck-II telescope as a first in-the-field
demonstration of microcombs
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease
OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL). METHODS: Combined analysis of newly identified patients with NEFL-related CMT and all previously reported cases from the literature. RESULTS: Five new unrelated patients with CMT carrying the NEFL mutations P8R and N98S and the novel variant L311P were identified. Combined data from these cases and 62 kindreds from the literature revealed four common mutations (P8R, P22S, N98S and E396K) and three mutational hotspots accounting for 37 (55%) and 50 (75%) kindreds, respectively. Eight patients had de novo mutations. Loss of large-myelinated fibres was a uniform feature in a total of 21 sural nerve biopsies and 'onion bulb' formations and/or thin myelin sheaths were observed in 14 (67%) of them. The neurophysiological phenotype was broad but most patients with E90K and N98S had upper limb motor conduction velocities <38 m/s. Age of onset was ≤3 years in 25 cases. Pyramidal tract signs were described in 13 patients and 7 patients were initially diagnosed with or tested for inherited ataxia. Patients with E90K and N98S frequently presented before age 3 years and developed hearing loss or other neurological features including ataxia and/or cerebellar atrophy on brain MRI. CONCLUSIONS: NEFL-related CMT is clinically and genetically heterogeneous. Based on this study, however, we propose mutational hotspots and relevant clinical-genetic associations that may be helpful in the evaluation of NEFL sequence variants and the differential diagnosis with other forms of CMT
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