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1.
7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) are biomarkers of Smith-Lemli-Opitz Syndrome (SLOS), a congenital autosomal recessive disorder characterized by elevated 7-DHC level in patients. Hair samples have been shown to have great diagnostic and research value, which has long been neglected in the SLOS field. In this study, we sought to investigate the feasibility of using hair for SLOS diagnosis. In the presence of antioxidants (2,6-ditert-butyl-4-methylphenol and triphenylphosphine), hair samples were completely pulverized and extracted by micro-pulverized extraction in alkaline solution or in n-hexane. After microwave-assisted derivatization with N,O-Bis(trimethylsilyl)trifluoroacetamide, the analytes were measured by GC-MS. We found that the limits of determination for 7-DHC and CHOL were 10 ng/mg and 8 ng/mg, respectively. In addition, good linearity was obtained in the range of 50–4000 ng/mg and 30–6000 ng/mg for 7-DHC and CHOL, respectively, which fully meets the requirement for SLOS diagnosis and related research. Finally, by applying the proposed method to real hair samples collected from 14 healthy infants and two suspected SLOS patients, we confirmed the feasibility of hair analysis as a diagnostic tool for SLOS. In conclusion, we present an optimized and validated analytical method for the simultaneous determination of two SLOS biomarkers using human hair.  相似文献   
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《Current biology : CB》2022,32(1):74-85.e4
Download : Download video (38MB)  相似文献   
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Summary The most relevant properties of hypercycles were previously studied mainly from a theoretical point of view. We have developed a Monte Carlo method simulating hypercyclic organization to obtain information about the dynamics of this prebiotic organization. Nucleation, growth, and selective properties have been tested and the results obtained are in good agreement with those of the theoretical predictions. The influence of hypercyclic organization of the error threshold has also been studied. As a consequence of the emergence of a hypercycle, the value of this threshold decreases. The amount of this decrease depends on the population size. Moreover, for some interval of quality factor values, either the hypercycle organization or an error catastrophe can be produced, depending on the initial conditions. The influence of these phenomena on both the dynamic behavior and evolutionary advantages of the hypercycle, as well as their decisive roles on genome size, are discussed.Presented at the FEBS Symposium on Genome Organization and Evolution, held in Crete, Greece, September 1–5, 1986  相似文献   
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Experiments were conducted for 3 years at four locations and 1 year with six soil types at a common location in North Carolina to determine damage and control-cost functions for Heterodera glycines races 1 and 2 on soybean. In the experiments on native loamy sand and sandy soils, tolerance limits for initial population densities were 0 or very low, whereas in a muck, the tolerance limit was 315 eggs/500 cm³ soil. The aggressive race 2 was more damaging than race 1 in Lakeland sand and Norfolk loamy sand. The crop response was not different between races in the Appling sandy clay loam and Belhaven muck. Soybean yield responses to H. glycines were linear in six soil types in microplots at a common site. The amount of damage varied among these soil types, with lowest yields in the muck because of severe drought stress in this soil. An exponential function adequately described soybean yield response relative to nematode control with increasing rates of aldicarb in Norfolk loamy sand. Treatment with aldicarb in the Lakeland sand decreased the effective egg population of H. glycines but had only a minor effect in the muck.  相似文献   
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Summary This paper describes the ovarian pathologies observed when 108 different heteroallelic combinations were made involving 17 independent mutations at the ovarian tumor (otu) locus. Most of the mutant phenotypes can be explained as graded responses by individual germ cells to different levels of functionally active otu gene product (OGP) synthesized by the mutant cells themselves. The lowest and highest levels of OGP appear to be produced by otu 10 and otu 14, respectively. In most heteroallelic ovaries the alleles have additive effects, and hybrid germ cells reach a developmental stage more advanced than the weaker homozygote but less advanced than the stronger homozygote. However, examples of both positive and negative complementation also have been found, and these suggest that the products encoded by different mutant alleles can combine to form dimers or multimers which may be superior or inferior to the homodimers. In flies homozygous for otu 11 most ovarioles contain tumors, but some germ cells are able to develop further than those in otu 14 homozygotes. This suggests that, while otu 11 produces intermediate levels of OGP, it also produces a second product (which otu 14 cannot make) that is utilized at the period in oogenesis when development in cells homozygous for otu 14 is blocked. When otu 11 is combined with any one of eight specific alleles, it allows oocyte/nurse cell syncytia to differentiate that can complete development and undergo embryogenesis, if fertilized. The endopolyploid nurse cells of these hybrids have giant polytene chromosomes, and the presence of GPCs in functionally active, germ-line derived cells provides an interesting new system for experimental study. Analysis of the characteristic ovarian pathologies produced by flies of different genotypes leads to the conclusion that the products of the otu + gene are utilized during at least six different periods in Drosophila oogenesis.  相似文献   
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The ethanol-oxidizing, proton-reducing Pelobacter acetylenicus was grown in chemostat cocultures with either Acetobacterium woodii, Methanobacterium bryantii, or Desulfovibrio desulfuricans. Stable steady state conditions with tightly coupled growth were reached at various dilution rates between 0.02 and 0.14 h-1. Both ethanol and H2 steady state concentrations increased with growth rate and were lower in cocultures with the sulfate reducer < methanogen < homoacetogen. Due to the higher affinity for H2, D. desulfuricans outcompeted M. bryantii, and this one A. woodii when inoculated in cocultures with P. acetylenicus. Cocultures with A. woodii had lower H2 steady state concentrations when bicarbonate reduction was replaced by the energetically more favourable caffeate reduction. Similarly, cocultures with D. desulfuricans had lower H2 concentrations with nitrate than with sulfate as electron acceptor. The Gibbs free energy (G) available to the H2-producing P. acetylenicus was independent of growth rate and the H2-utilizing partner, whereas the G available to the latter increased with growth rate and the energy yielding potential of the H2 oxidation reaction. The critical Gibbs free energy (Gc), i.e. the minimum energy required for H2 production and H2 oxidation, was-5.5 to-8.0 kJ mol-1 H2 for P. acetylenicus,-5.1 to-6.3 kJ mol-1 H2 for A. woodii,-7.5 to-9.1 kJ mol-1 H2 for M. bryantii, and-10.3 to-12.3 kJ mol-1 H2 for D. desulfuricans. Obviously, the potentially available energy was used more efficiently by homoacetogens > methanogens > sulfate reducers.  相似文献   
8.
To determine the level of cerebral blood flow reduction which causes striatal dopamine release, extracellular dopamine and cerebral blood flow was simultaneously determined using in vivo brain dialysis and a hydrogen clearance method, respectively, in the striatum of spontaneously hypertensive rats, before and during experimental cerebral ischemia. The ischemic flow threshold for neurotransmitter dopamine release was found to be 20% of the resting value or 8–10 ml/100g/min of cerebral blood flow, being similar to those for energy and membrane failures.  相似文献   
9.
Soils contain two different activities for oxidation of hydrogen   总被引:1,自引:0,他引:1  
Abstract Hydrogen oxidation rates were measured in a neutral compost soil and an acidic sandy loam at H2 mixing ratios of 0.01 to 5000 ppmv. The kinetics were biphasic showing two different K m values for H2, one at about 10–40 nM dissolved H2, the other at about 1.2–1.4 μM H2. The low- K m activity was less sensitive to chloroform fumigation than the high- K m activity. If sterile soil was amended with Paracoccus denitrificans or a H2-oxidizing strain isolated from compost soil, it exhibited only a high- K m (0.7–0.9 μM) activity. It also failed to utilize H2 mixing ratios below a threshold of 1.6–3.0 ppmv H2 (160–300 mPa). A similar result was obtained when fresh soil samples were suspended in water, and H2 oxidation was determined from the decrease of dissolved H2. However, H2 was again utilized to mixing ratios lower than 0.05 ppmv, if the supernatant of the soil suspension or the settled soil particles were dried onto sterile soil or purified quarz sand. Obviously, soils contain two different activities for oxidation of H2: (1) a high- K m, high-threshold activity which apparently is due to aerobic H2-oxidizing bacteria, and (2) a low- K m, low-threshold activity whose origin is unknown but presumably is due to soil enzymes.  相似文献   
10.
To compare the results obtained by incremental or constant work load exercises in the evaluation of endurance conditioning, a 20-week training programme was performed by 9 healthy human subjects on the bicycle ergometer for 1 h a day, 4 days a week, at 70-80% VO2max. Before and at the end of the training programme, (1) the blood lactate response to a progressive incremental exercise (18 W increments every 2nd min until exhaustion) was used to determine the aerobic and anaerobic thresholds (AeT and AnT respectively). On a different day, (2) blood lactate concentrations were measured during two sessions of constant work load exercises of 20 min duration corresponding to the relative intensities of AeT (1st session) and AnT (2nd session) levels obtained before training. A muscle biopsy was obtained from vastus lateralis at the end of these sessions to determine muscle lactate. AeT and AnT, when expressed as % VO2max, increased with training by 17% (p less than 0.01) and 9% (p less than 0.05) respectively. Constant workload exercise performed at AeT intensity was linked before training (60% VO2max) to a blood lactate steady state (4.8 +/- 1.4 mmol.l-1) whereas, after training, AeT intensity (73% VO2max) led to a blood lactate accumulation of up to 6.6 +/- 1.7 mmol.l-1 without significant modification of muscle lactate (7.6 +/- 3.1 and 8.2 +/- 2.8 mmol.kg-1 wet weight respectively). It is concluded that increase in AeT with training may reflect transient changes linked to lower early blood lactate accumulation during incremental exercise.(ABSTRACT TRUNCATED AT 250 WORDS)  相似文献   
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