986 resultados para MUTATION-RATE


Relevância:

20.00% 20.00%

Publicador:

Resumo:

OBJECTIVE: To compare the heart-rate monitoring with the doubly labelled water (2H2(18)O) method to estimate total daily energy expenditure in obese and non-obese children. DESIGN: Cross sectional study of obese and normal weight children. SUBJECTS: 13 prepubertal children: six obese (4M, 2F, 9.1 +/- 1.5 years, 47.3 +/- 9.7 kg) and seven non-obese (3M, 4F, 9.3 +/- 0.6 years, 31.8 +/- 3.2 kg). MEASUREMENTS: Total daily energy expenditure was assessed by means of the doubly labelled water method (TEEDLW) and of heart-rate monitoring (TEEHR). RESULTS: TEEHR was significantly (P < 0.05) higher than TEEDLW in obese children (9.47 +/- 0.84 MJ/d vs 8.99 +/- 0.63 MJ/d) whereas it was not different in non-obese children (8.43 +/- 2.02 MJ/d vs 8.42 +/- 2.30 MJ/d, P = NS). The difference of TEE assessed by HR monitoring in the obese group averaged 6.2 +/- 4.7%. At the individual level, the degree of agreement (difference between TEEHR and TEEDLW +/- 2s.d.) was low both in obese (-0.36, 1.32 MJ/d) and in non-obese children (-1.30, 1.34 MJ/d). At the group level, the agreement between the two methods was good in nonobese children (95% c.i. for the bias:-0.59, 0.63 MJ/d) but not in obese children (0.04, 0.92 MJ/d). Duration of sleep and energy expenditure during resting and physical activity were not significantly different in the two groups. Patterns of heart-rate (or derived energy expenditure) during the day-time were similar in obese and non-obese children. CONCLUSION: The HR monitoring technique provides an estimation of TEE close to that assessed by the DLW method in non-obese prepubertal children. In comparison with DLW, the HR monitoring method yields a greater TEE value in obese children.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

The objective of this work was to evaluate the ideal feeding rate and frequency for juvenile pompano (Trachinotus marginatus). Two experiments were carried out in a completely randomized design, with three replicates each. In experiment I, 25 fish (4.8±0.6 g and 6.48±0.01 cm) were stocked in 15 tanks (50 L) during 21 days and fed 4, 8, 12, 16, and 20% body weight per day. In experiment II, 20 fish (4.1±0.1 g and 6.6±0.1 cm) were stocked in 15 tanks (40 L) during 28 days and fed 2, 6, 8, and 10 times a day. The tested feeding rates and frequencies did not influence survival. Final weight and length in experiment I were significantly lower in fish fed 4% body weight per day, whereas in experiment II only weight was significantly lower in fish fed 2 and 6 times a day. At the end of both experiments, apparent feed conversion showed significant difference, with the worst value observed for fish fed 20% body weight per day in experiment I and 2 times a day in experiment II. Juvenile pompano show better growth performance when fed 8% body weight per day and 8 times a day.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

This paper analyzes the asymptotic performance of maximum likelihood (ML) channel estimation algorithms in wideband code division multiple access (WCDMA) scenarios. We concentrate on systems with periodic spreading sequences (period larger than or equal to the symbol span) where the transmitted signal contains a code division multiplexed pilot for channel estimation purposes. First, the asymptotic covariances of the training-only, semi-blind conditional maximum likelihood (CML) and semi-blind Gaussian maximum likelihood (GML) channelestimators are derived. Then, these formulas are further simplified assuming randomized spreading and training sequences under the approximation of high spreading factors and high number of codes. The results provide a useful tool to describe the performance of the channel estimators as a function of basicsystem parameters such as number of codes, spreading factors, or traffic to training power ratio.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

This 45th volume deals with the development of the Russian rouble, which suffered a severe depreciation crisis in 1998. In the aftermath of this event, a strong investment boom started in Russia. The new devalued rouble exchange rate gave price competitiveness to local industry. In addition to that, increasing export prices of Russian oil and natural gas deliveries have contributed to economic growth lately. Amid this boom period, inflationary pressure has remained high. Price increases have been higher than in the EU, Russia’s main trading partner. However, rouble/euro exchange rate has remained nominally rather stable in the current decade. This means, that rouble appreciates against euro in real terms, which is weakening Russia’s international competitiveness.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

Physiol Meas. 2007 Oct;28(10):1189-200. Epub 2007 Sep 18.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

SUMMARY : Human-induced habitat fragmentation constitutes a major threat to biodiversity. Small and isolated populations suffer from increased stochasticity and from limited rescue effects. These two factors may be sufficient to cause local extinctions but fragmentation induces some genetic consequences that can also contribute significantly to extinction risks. Increased genetic drift reduces the effectiveness of selection against deleterious mutations, leading to their progressive accumulation. Drift also decreases both the standing genetic variation and the rate of fixation of beneficial mutations, limiting the evolutionary potential of isolated populations. Demography and genetics further interact and feed back on each other, progressively driving fragmented populations into "extinction vortices". The aim of the thesis was to better understand the processes occurring in fragmented populations. For this, I combined simulation studies and empirical data from three species that live in structured habitats. Chapter 1 and 2 investigate the demography of two shrew species in fragmented habitats. I showed that connectivity and habitat quality strongly affect the demography of the greater white-tooted shrew, although demographic stochasticity was extremely high. I also demonstrated that habitat fragmentation is one of the leading factors allowing the local coexistence of two competing shrew species. Chapter 3 and 4 focus on measuring connectivity in fragmented populations based on genetic data. In particular, I showed that genetic data can be used to detect the landscape elements impeding dispersal. In Chapter 5 that deals with the accumulation of deleterious mutations in fragmented populations, I demonstrated that mutation accumulation, as well a time to extinction, can be predicted from simple demographic and genetic measures. In the last two chapters, I monitored individual reproductive success in an isolated tree frogs population. These data allowed quantifying the effective population size, a measure closely linked to population evolutionary potential. To conclude, this thesis brings some new insights into the processes occurring in fragmented populations, and I hope it will contribute to the improvement of the management and conservation of fragmented populations.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2-Kabuki score 0-10). Sequencing of the full coding region and intron-exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice-site mutations, 34 of which were novel. In five additional patients, novel, i.e. non-dbSNP132 variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense MLL2 mutations were usually more severely affected (median 'MLL2-Kabuki score' of 6) as compared to the patients without MLL2 mutations (median 'MLL2-Kabuki score' of 5), a significant difference (p < 0.0014). Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

The objective of this work was to obtain prevalence estimates of cloudy vaginal mucus in artificially inseminated Holstein cows raised under intense heat, in order to assess the effect of meteorological conditions on its occurrence during estrus and to determine its effect on conception rate. In a first study, an association was established between the occurrence of cloudy vaginal mucus during estrus and the conception rate of inseminated cows (18,620 services), raised under intense heat (mean annual temperature of 22°C), at highly technified farms, in the arid region of northern Mexico. In a second study, data from these large dairy operations were used to assess the effect of meteorological conditions throughout the year on the occurrence of cloudy vaginal mucus during artificial insemination (76,899 estruses). The overall rate of estruses with cloudy vaginal mucus was 21.4% (16,470/76,899; 95% confidence interval = 21.1-21.7%). The conception rate of cows with clean vaginal mucus was higher than that of cows with abnormal mucus (30.6 vs. 22%). Prevalence of estruses with cloudy vaginal mucus was strongly dependent on high ambient temperature and markedly higher in May and June. Acceptable conception rates in high milk-yielding Holstein cows can only be obtained with cows showing clear and translucid mucus at artificial insemination.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

Estimer la filtration glomérulaire chez les personnes âgées, tout en tenant compte de la difficulté supplémentaire d'évaluer leur masse musculaire, est difficile et particulièrement important pour la prescription de médicaments. Le taux plasmatique de la creatinine dépend à la fois de la fraction d'élimination rénale et extra-rénale et de la masse musculaire. Actuellement, pour estimer là filtration glomérulaire différentes formules sont utilisées, qui se fondent principalement sur la valeur de la créatinine. Néanmoins, en raison de la fraction éliminée par les voies tubulaires et intestinales la clairance de la créatinine surestime généralement le taux de filtration glomérulaire (GFR). Le but de cette étude est de vérifier la fiabilité de certains marqueurs et algorithmes de la fonction rénale actuellement utilisés et d'évaluer l'avantage additionnel de prendre en considération la masse musculaire mesurée par la bio-impédance dans une population âgée (> 70 ans) et avec une fonction rénale chronique compromise basée sur MDRD eGFR (CKD stades lll-IV). Dans cette étude, nous comparons 5 équations développées pour estimer la fonction rénale et basées respectivement sur la créatinine sérique (Cockcroft et MDRD), la cystatine C (Larsson), la créatinine combinée à la bêta-trace protéine (White), et la créatinine ajustée à la masse musculaire obtenue par analyse de la bio-impédance (MacDonald). La bio-impédance est une méthode couramment utilisée pour estimer la composition corporelle basée sur l'étude des propriétés électriques passives et de la géométrie des tissus biologiques. Cela permet d'estimer les volumes relatifs des différents tissus ou des fluides dans le corps, comme par exemple l'eau corporelle totale, la masse musculaire (=masse maigre) et la masse grasse corporelle. Nous avons évalué, dans une population âgée d'un service interne, et en utilisant la clairance de l'inuline (single shot) comme le « gold standard », les algorithmes de Cockcroft (GFR CKC), MDRD, Larsson (cystatine C, GFR CYS), White (beta trace protein, GFR BTP) et Macdonald (GFR = ALM, la masse musculaire par bio-impédance. Les résultats ont montré que le GFR (mean ± SD) mesurée avec l'inuline et calculée avec les algorithmes étaient respectivement de : 34.9±20 ml/min pour l'inuline, 46.7±18.5 ml/min pour CKC, 47.2±23 ml/min pour CYS, 54.4±18.2ml/min pour BTP, 49±15.9 ml/min pour MDRD et 32.9±27.2ml/min pour ALM. Les courbes ROC comparant la sensibilité et la spécificité, l'aire sous la courbe (AUC) et l'intervalle de confiance 95% étaient respectivement de : CKC 0 68 (055-0 81) MDRD 0.76 (0.64-0.87), Cystatin C 0.82 (0.72-0.92), BTP 0.75 (0.63-0.87), ALM 0.65 (0.52-0.78). ' En conclusion, les algorithmes comparés dans cette étude surestiment la GFR dans la population agee et hospitalisée, avec des polymorbidités et une classe CKD lll-IV. L'utilisation de l'impédance bioelectrique pour réduire l'erreur de l'estimation du GFR basé sur la créatinine n'a fourni aucune contribution significative, au contraire, elle a montré de moins bons résultats en comparaison aux autres equations. En fait dans cette étude 75% des patients ont changé leur classification CKD avec MacDonald (créatinine et masse musculaire), contre 49% avec CYS (cystatine C), 56% avec MDRD,52% avec Cockcroft et 65% avec BTP. Les meilleurs résultats ont été obtenus avec Larsson (CYS C) et la formule de Cockcroft.