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151.
W. Brussel A. B. P. van Kuilenburg P. M. W. Janssens 《Nucleosides, nucleotides & nucleic acids》2013,32(9-11):1099-1102
Deficiency of dihydropyrimidine dehydrogenase (DPD) is a rare inborn error of pyrimidine metabolism. To date, only about 50 patients are known worldwide. The clinical picture is varied and is not yet fully described. Most patients are diagnosed at the age of 1–3 years. We present a patient diagnosed 8 weeks postpartum. The female patient presented in the first 3 days after birth with agitation, choking, and vomiting. Six weeks later, the patient presented again with vomiting and insufficient weight gain. Metabolic screening of urine showed a strongly increased excretion of uracil and thymine, with no other abnormalities. This suggested a deficiency of DPD which was confirmed by enzyme analysis in peripheral blood mononucleair (PBM) cells (patient: activity <0.01 nmol/mg/h; controls: 9.9 ± 2.8 nmol/mg/h). The patient was homozygous for the IVS14+1G>A mutation. MRI of the brain showed some cerebral atrophy; myelinization appeared normal. Many patients with DPD-deficiency suffer from convulsions and mental retardation, some show microcephaly, feeding difficulties, autism, and hypertonia. Our patient showed feeding difficulties and in the second half-year she developed slight motor retardation and generalized hypotonia. Further observation of the development of the patient may shed more light on the relationship between clinical symptoms and DPD deficiency. DPD deficiency may present in newborns with vomiting and hypotonia as the main symptoms. 相似文献
152.
153.
Millet S Gielkens K De Brabander D Janssens GP 《Animal : an international journal of animal bioscience》2011,5(7):1119-1123
With the ongoing social pressure on surgical castration of pigs, an increase in the population of pigs that are either not castrated or immunocastrated (IC) can be expected. In both cases, their nutrient requirements and performance will differ from surgically castrated pigs and will require changes in their management. Immunocastration is performed by giving two injections of a modified gonadotrophin-releasing hormone component along with an adjuvant, at least 4 weeks apart. This paper describes the reported differences in growth performance and carcass quality of IC male pigs in comparison with boars (BO) and barrows (BA). Theoretically, IC pigs remain physiologically boar until the second vaccination and therefore, growth may be comparable with BO until this second vaccination. From then on, IC male pigs consume more feed than BO and grow faster when fed ad libitum. IC showed a faster growth and better feed conversion ratio than BA. When fed restrictedly, BO grow faster and more efficiently than BA and IC. IC have a lower carcass yield than BA and BO, whereas meat percentage is intermediate. 相似文献
154.
Objective
A recent collaborative genome-wide association study replicated a large number of susceptibility loci and identified novel loci. This increase in known multiple sclerosis (MS) risk genes raises questions about clinical applicability of genotyping. In an empirical set we assessed the predictive power of typing multiple genes. Next, in a modelling study we explored current and potential predictive performance of genetic MS risk models.Materials and Methods
Genotype data on 6 MS risk genes in 591 MS patients and 600 controls were used to investigate the predictive value of combining risk alleles. Next, the replicated and novel MS risk loci from the recent and largest international genome-wide association study were used to construct genetic risk models simulating a population of 100,000 individuals. Finally, we assessed the required numbers, frequencies, and ORs of risk SNPs for higher discriminative accuracy in the future.Results
Individuals with 10 to 12 risk alleles had a significantly increased risk compared to individuals with the average population risk for developing MS (OR 2.76 (95% CI 2.02–3.77)). In the simulation study we showed that the area under the receiver operating characteristic curve (AUC) for a risk score based on the 6 SNPs was 0.64. The AUC increases to 0.66 using the well replicated 24 SNPs and to 0.69 when including all replicated and novel SNPs (n = 53) in the risk model. An additional 20 SNPs with allele frequency 0.30 and ORs 1.1 would be needed to increase the AUC to a slightly higher level of 0.70, and at least 50 novel variants with allele frequency 0.30 and ORs 1.4 would be needed to obtain an AUC of 0.85.Conclusion
Although new MS risk SNPs emerge rapidly, the discriminatory ability in a clinical setting will be limited. 相似文献155.
Lore T. Verryckt David S. Ellsworth Sara Vicca Leandro Van Langenhove Josep Peñuelas Philippe Ciais Juan M. Posada Clément Stahl Sabrina Coste Elodie A. Courtois Michael Obersteiner Jérôme Chave Ivan A. Janssens 《Biotropica》2020,52(6):1183-1193
Leaf-level net photosynthesis (An) estimates and associated photosynthetic parameters are crucial for accurately parameterizing photosynthesis models. For tropical forests, such data are poorly available and collected at variable light conditions. To avoid over- or underestimation of modeled photosynthesis, it is critical to know at which photosynthetic photon flux density (PPFD) photosynthesis becomes light-saturated. We studied the dependence of An on PPFD in two tropical forests in French Guiana. We estimated the light saturation range, including the lowest PPFD level at which Asat (An at light saturation) is reached, as well as the PPFD range at which Asat remained unaltered. The light saturation range was derived from photosynthetic light-response curves, and within-canopy and interspecific differences were studied. We observed wide light saturation ranges of An. Light saturation ranges differed among canopy heights, but a PPFD level of 1,000 µmol m−2 s−1 was common across all heights, except for pioneer trees species that did not reach light saturation below 2,000 µmol m−2 s−1. A light intensity of 1,000 µmol m−2 s−1 sufficed for measuring Asat of climax species at our study sites, independent of the species or the canopy height. Because of the wide light saturation ranges, results from studies measuring Asat at higher PPFD levels (for upper canopy leaves up to 1,600 µmol m−2 s−1) are comparable with studies measuring at 1,000 µmol m−2 s−1. 相似文献
156.
Niels van den Berg Mar Rodríguez‐Girondo Kees Mandemakers Angelique A. P. O. Janssens Marian Beekman P. Eline Slagboom 《Aging cell》2020,19(6)
Loci associated with longevity are likely to harbor genes coding for key players of molecular pathways involved in a lifelong decreased mortality and decreased/compressed morbidity. However, identifying such loci is challenging. One of the most plausible reasons is the uncertainty in defining long‐lived cases with the heritable longevity trait among long‐living phenocopies. To avoid phenocopies, family selection scores have been constructed, but these have not yet been adopted as state of the art in longevity research. Here, we aim to identify individuals with the heritable longevity trait by using current insights and a novel family score based on these insights. We use a unique dataset connecting living study participants to their deceased ancestors covering 37,825 persons from 1,326 five‐generational families, living between 1788 and 2019. Our main finding suggests that longevity is transmitted for at least two subsequent generations only when at least 20% of all relatives are long‐lived. This proves the importance of family data to avoid phenocopies in genetic studies. 相似文献
157.
158.
Donna Vanhauteghem Geert Paul Jules Janssens Angelo Lauwaerts Stanislas Sys Filip Boyen Eric Cox Evelyne Meyer 《PloS one》2013,8(3)
Our previous work described a clear loss of Escherichia coli (E. coli) membrane integrity after incubation with glycine or its N-methylated derivatives N-methylglycine (sarcosine) and N,N-dimethylglycine (DMG), but not N,N,N-trimethylglycine (betaine), under alkaline stress conditions. The current study offers a thorough viability analysis, based on a combination of real-time physiological techniques, of E. coli exposed to glycine and its N-methylated derivatives at alkaline pH. Flow cytometry was applied to assess various physiological parameters such as membrane permeability, esterase activity, respiratory activity and membrane potential. ATP and inorganic phosphate concentrations were also determined. Membrane damage was confirmed through the measurement of nucleic acid leakage. Results further showed no loss of esterase or respiratory activity, while an instant and significant decrease in the ATP concentration occurred upon exposure to either glycine, sarcosine or DMG, but not betaine. There was a clear membrane hyperpolarization as well as a significant increase in cellular inorganic phosphate concentration. Based on these results, we suggest that the inability to sustain an adequate level of ATP combined with a decrease in membrane functionality leads to the loss of bacterial viability when exposed to the proton scavengers glycine, sarcosine and DMG at alkaline pH. 相似文献
159.
Daphne H. E. W. Huberts Georges E. Janssens Sung Sik Lee Ima Avalos Vizcarra Matthias Heinemann 《Journal of visualized experiments : JoVE》2013,(78)
We demonstrate the use of a simple microfluidic setup, in which single budding yeast cells can be tracked throughout their entire lifespan. The microfluidic chip exploits the size difference between mother and daughter cells using an array of micropads. Upon loading, cells are trapped underneath these micropads, because the distance between the micropad and cover glass is similar to the diameter of a yeast cell (3-4 μm). After the loading procedure, culture medium is continuously flushed through the chip, which not only creates a constant and defined environment throughout the entire experiment, but also flushes out the emerging daughter cells, which are not retained underneath the pads due to their smaller size. The setup retains mother cells so efficiently that in a single experiment up to 50 individual cells can be monitored in a fully automated manner for 5 days or, if necessary, longer. In addition, the excellent optical properties of the chip allow high-resolution imaging of cells during the entire aging process. 相似文献
160.
Anne-Laure Page Nathalie de Rekeneire Sani Sayadi Said Aberrane Ann-Carole Janssens Claire Rieux Ali Djibo Jean-Claude Manuguerra Hubert Ducou-le-Pointe Rebecca F. Grais Myrto Schaefer Philippe J. Guerin Emmanuel Baron 《PloS one》2013,8(7)