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The objective of this study was to study the relationship between increase in number of steps measured by pedometers, behavioral estrous parameters and time of ovulation, in order to investigate whether the number of steps can be used as a tool for estrous detection and as a predictor for time of ovulation. In total, 63 ovulations were observed in 43 Holstein-Friesian cows. Different behavioral signs of estrus were observed at 3h intervals. Cows were equipped with pedometers, which stored number of steps in 2h time periods and pedometer estrus alerts were defined using different algorithms and thresholds. The percentage of behavioral estruses also detected by pedometers measurements, ranged between 51 and 87% for all estrous periods. When only estrous periods where taken into account in which more than one animal was in estrus, detection percentages increased up to 95%. Number of steps taken during the estrous period was higher when more animals were in behavioral estrus at the same time, and number of steps taken during the estrous period was also higher for primiparous cows compared to multiparous cows. Ovulation occurred 29.3+/-3.9h after onset of increased number of steps (ranging between 39 and 22 h) and 19.4+/-4.4h after the end of increased number of steps (ranging between 35 and 12h). The intervals were not influenced by the number of animals that were in estrus at the same time or by parity. In conclusion, pedometers can detect estrus accurately and appear to be a promising tool for prediction of ovulation and hence could be a tool for improving fertilization rates. 相似文献
13.
Vermeulen N Pavlovic M Ehrmann MA Gänzle MG Vogel RF 《Applied and environmental microbiology》2005,71(10):6260-6266
Protein hydrolysis and amino acid metabolism contribute to the beneficial effects of sourdough fermentation on bread quality. In this work, genes of Lactobacillus sanfranciscensis strain DSM 20451 involved in peptide uptake and hydrolysis were identified and their expression during growth in sourdough was determined. Screening of the L. sanfranciscensis genome with degenerate primers targeting prt and analysis of proteolytic activity in vitro provided no indication for proteolytic activity. Proteolysis in aseptic doughs and sourdoughs fermented with L. sanfranciscensis was inhibited upon the addition of an aspartic protease inhibitor. These results indicate that proteolysis was not linked to the presence of L. sanfranciscensis DSM 20451 and that this strain does not harbor a proteinase. Genes encoding the peptide transport systems Opp and DtpT and the intracellular peptidases PepT, PepR, PepC, PepN, and PepX were identified. Both peptide uptake systems and the genes pepN, pepX, pepC, and pepT were expressed by L. sanfranciscensis growing exponentially in sourdough, whereas pepX was not transcribed. The regulation of the expression of Opp, DtpT, and PepT during growth of L. sanfranciscensis in sourdough was investigated. Expression of Opp and DtpT was reduced approximately 17-fold when the peptide supply in dough was increased. The expression of PepT was dependent on the peptide supply to a lesser extent. Thus, the accumulation of amino nitrogen by L. sanfranciscensis in dough is attributable to peptide hydrolysis rather than proteolysis and amino acid metabolism by L. sanfranciscensis during growth in sourdough is limited by the peptide availability. 相似文献
14.
Nicoline BM Voet Gijs Bleijenberg George W Padberg Baziel GM van Engelen Alexander CH Geurts 《BMC neurology》2010,10(1):56
Background
In facioscapulohumeral dystrophy (FSHD) muscle function is impaired and declines over time. Currently there is no effective treatment available to slow down this decline. We have previously reported that loss of muscle strength contributes to chronic fatigue through a decreased level of physical activity, while fatigue and physical inactivity both determine loss of societal participation. To decrease chronic fatigue, two distinctly different therapeutic approaches can be proposed: aerobic exercise training (AET) to improve physical capacity and cognitive behavioural therapy (CBT) to stimulate an active life-style yet avoiding excessive physical strain. The primary aim of the FACTS-2-FSHD (acronym for Fitness And Cognitive behavioural TherapieS/for Fatigue and ACTivitieS in FSHD) trial is to study the effect of AET and CBT on the reduction of chronic fatigue as assessed with the Checklist Individual Strength subscale fatigue (CIS-fatigue) in patients with FSHD. Additionally, possible working mechanisms and the effects on various secondary outcome measures at all levels of the International Classification of Functioning, Disability and Health (ICF) are evaluated.Methods/Design
A multi-centre, assessor-blinded, randomized controlled trial is conducted. A sample of 75 FSHD patients with severe chronic fatigue (CIS-fatigue ≥ 35) will be recruited and randomized to one of three groups: (1) AET + usual care, (2) CBT + usual care or (3) usual care alone, which consists of no therapy at all or occasional (conventional) physical therapy. After an intervention period of 16 weeks and a follow-up of 3 months, the third (control) group will as yet be randomized to either AET or CBT (approximately 7 months after inclusion). Outcomes will be assessed at baseline, immediately post intervention and at 3 and 6 months follow up.Discussion
The FACTS-2-FSHD study is the first theory-based randomized clinical trial which evaluates the effect and the maintenance of effects of AET and CBT on the reduction of chronic fatigue in patients with FSHD. The interventions are based on a theoretical model of chronic fatigue in patients with FSHD. The study will provide a unique set of data with which the relationships between outcome measures at all levels of the ICF could be assessed.Trial registration
Dutch Trial Register, NTR1447.15.
Jongmans MC Verwiel ET Heijdra Y Vulliamy T Kamping EJ Hehir-Kwa JY Bongers EM Pfundt R van Emst L van Leeuwen FN van Gassen KL Geurts van Kessel A Dokal I Hoogerbrugge N Ligtenberg MJ Kuiper RP 《American journal of human genetics》2012,90(3):426-433
Revertant mosaicism is an infrequently observed phenomenon caused by spontaneous correction of a pathogenic allele. We have observed such reversions caused by mitotic recombination of mutant TERC (telomerase RNA component) alleles in six patients from four families affected by dyskeratosis congenita (DC). DC is a multisystem disorder characterized by mucocutaneous abnormalities, dystrophic nails, bone-marrow failure, lung fibrosis, liver cirrhosis, and cancer. We identified a 4 nt deletion in TERC in a family with an autosomal-dominant form of DC. In two affected brothers without bone-marrow failure, sequence analysis revealed pronounced overrepresentation of the wild-type allele in blood cells, whereas no such skewing was observed in the other tissues tested. These observations suggest that this mosaic pattern might have resulted from somatic reversion of the mutated allele to the normal allele in blood-forming cells. SNP-microarray analysis on blood DNA from the two brothers indeed showed independent events of acquired segmental isodisomy of chromosome 3q, including TERC, indicating that the reversions must have resulted from mitotic recombination events. Subsequently, after developing a highly sensitive method of detecting mosaic homozygosity, we have found four additional cases with a mosaic-reversion pattern in blood cells; these four cases are part of a cohort of 17 individuals with germline TERC mutations. This shows that revertant mosaicism is a recurrent event in DC. This finding has important implications for improving diagnostic testing and understanding the variable phenotype of DC. 相似文献
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Nienke E. Verbeek Nicoline A. T. van der Maas Floor E. Jansen Marjan J. A. van Kempen Dick Lindhout Eva H. Brilstra 《PloS one》2013,8(6)
Objectives
To determine the prevalence of Dravet syndrome, an epileptic encephalopathy caused by SCN1A-mutations, often with seizure onset after vaccination, among infants reported with seizures following vaccination. To determine differences in characteristics of reported seizures after vaccination in children with and without SCN1A-related Dravet syndrome.Methods
Data were reviewed of 1,269 children with seizures following immunization in the first two years of life, reported to the safety surveillance system of the Dutch national immunization program between 1 January 1997 and 31 December 2006. Selective, prospective follow-up was performed of children with clinical characteristics compatible with a diagnosis of Dravet syndrome.Results
In 21.9% (n = 279) of children, a diagnosis of Dravet syndrome could not be excluded based on available clinical data (median age at follow-up 16 months). Additional follow-up data were obtained in 83.9% (n = 234) of these children (median age 8.5 years).15 (1.2% of 1,269; 95%CI:0.6 to 1.8%) children were diagnosed with SCN1A-related Dravet syndrome. Of all reported seizures following vaccinations in the first year of life, 2.5% (95%CI:1.3 to 3.6%) were due to SCN1A-related Dravet syndrome, as were 5.9% of reported seizures (95%CI:3.1 to 8.7%) after 2nd or 3rd DTP-IPV-Hib vaccination.Seizures in children with SCN1A-related Dravet syndrome occurred more often with a body temperature below 38.5°C (57.9% vs. 32.6%, p = 0.020) and reoccurred more often after following vaccinations (26.7% vs. 4.0%, p = 0.003), than in children without a diagnosis of SCN1A-related Dravet Syndrome.Conclusions
Although Dravet syndrome is a rare genetic epilepsy syndrome, 2.5% of reported seizures following vaccinations in the first year of life in our cohort occurred in children with this disorder. Knowledge on the specific characteristics of vaccination-related seizures in this syndrome might promote early diagnosis and indirectly, public faith in vaccination safety. 相似文献17.
Bonné AC Bodmer D Schoenmakers EF van Ravenswaaij CM Hoogerbrugge N van Kessel AG 《Current molecular medicine》2004,4(8):849-854
Renal cell carcinomas (RCCs) occur in both sporadic and familial forms. In a subset of families the occurrence of RCCs co-segregates with the presence of constitutional chromosome 3 translocations. Previously, such co-segregation phenomena have been widely employed to identify candidate genes in various hereditary (cancer) syndromes. Here we survey the translocation 3-positive RCC families that have been reported to date and the subsequent identification of its respective candidate genes using positional cloning strategies. Based on allele segregation, loss of heterozygosity and mutation analyses of the tumors, a multi-step model for familial RCC development has been generated. This model is relevant for (i) understanding familial tumorigenesis and (ii) rational patient management. In addition, a high throughput microarray-based strategy is presented that will enable the rapid identification of novel positional candidate genes via a single step procedure. The functional consequences of the (fusion) genes that have been identified so far, the multi-step model and its consequences for clinical diagnosis, the identification of persons at risk and genetic counseling in RCC families are discussed. 相似文献
18.
Nicoline M. Korthagen Jeroen Bastiaans Jan C. van Meurs Kiki van Bilsen P. Martin van Hagen Willem A. Dik 《Journal of biochemical and molecular toxicology》2015,29(7):299-304
Antimalarials chloroquine (CQ) and hydroxychloroquine (HCQ) are widely used as antiinflammatory drugs, but side effects include retinopathy and vision loss. The objective of this study was to examine the effect of CQ and HCQ on the barrier integrity of retinal pigment epithelial (RPE) cell monolayers in vitro. Permeability of ARPE‐19 cell monolayers was determined using Fluorescein isothiocyanate (FITC)‐labeled dextran. The influence of CQ and HCQ on cell death and the expression tight junction molecules was examined. CQ and HCQ significantly increased ARPE‐19 monolayer permeability after 3 and 18 h, respectively, and enhanced mRNA levels for claudin‐1 and occludin. Cytotoxicity was only observed after 18 h exposure. Thus, CQ and HCQ rapidly enhance RPE barrier permeability in vitro, independent of cytotoxicity or loss of zonula occludens‐1, claudin‐1, and occludin expression. Our findings suggest that CQ/HCQ‐induced permeability of the RPE layer may contribute to blood–retinal barrier breakdown in case of CQ/HCQ‐induced retinopathy. 相似文献
19.
Influence of repeated rectal ultrasound examinations on hormone profiles and behaviour around oestrus and ovulation in dairy cattle 总被引:3,自引:0,他引:3
Roelofs JB Bouwman EG Dieleman SJ Van Eerdenburg FJ Kaal-Lansbergen LM Soede NM Kemp B 《Theriogenology》2004,62(7):1337-1352
Frequent rectal ultrasound is often used to assess time of ovulation. This study investigated whether frequent rectal ultrasound examination, affects behavioural oestrus and peri-ovulatory hormone profiles (LH, oestradiol and progesterone). Additionally, the relation between peri-ovulatory hormone profiles, oestrous behaviour and time of ovulation was studied. Oestrus was synchronised in two consecutive cycles of Holstein Friesian cattle (parity from 1 to 6; n = 24 cycles). In 12 of these cycles, time of ovulation was assessed by three-hourly rectal ultrasound (assessment of ovulation time with ultrasound group: UG) the other half served as controls (n = 12; no assessment of ovulation time group: CG). There were no significant differences between the onset of oestrus (33.8 +/- 1.6 h), duration of oestrus (13.4 +/- 0.9 h) or intensity of oestrous behaviour (1047 +/- 180 points) between UG and CG treated animals. Furthermore, LH, oestradiol and progesterone profiles were similar between UG and CG. For UG, ovulation took place 30.2 +/- 1.9 h after onset of oestrus. This interval had the largest variation (21 h) of all parameters studied, ranging between 19 and 40 h after onset of oestrus. The smallest variation (6 h) was found in the timing of ovulation in relation to the LH-peak; ovulation took place 25.3 +/- 0.6 h (range: 21.5-27.5 h) after the peak in LH. This study demonstrated that repeated rectal ultrasound does not alter behavioural oestrus or peri-ovulatory hormone profiles and is therefore a useful tool for assessing time of ovulation. Further research, using ultrasound, can now be carried out to find predictors for time of ovulation. 相似文献
20.
Nicoline W. E. van den Berg Dean R. P. P. Chan Pin Yin Wouter R. Berger Jolien Neefs Rianne H. A. C. M. De Bruin-Bon Henk A. Marquering Annelie Slaar R. Nils Planken Joris R. de Groot 《Cardiovascular ultrasound》2018,16(1):17