79 research outputs found
How to explore… Inherited platelet disorders
peer reviewedInherited platelet disorders (IPD) include a set of rare diseases whose diagnosis is often difficult because it requires the use of complex biological assays in specialized centers. They are probably under-diagnosed. Clinicians should consider an IPD when facing a chronic thrombocytopenia resistant to intravenous immunoglobulins (IVIG) and steroids together with a family history of thrombocytopenia. A syndromic thrombocytopenia will be suspected by the family survey and specific clinical signs. The confirmation of the diagnosis will then require the use of specialized biological assays such as platelet aggregation, flow cytometry, electron microscopy, platelet secretion assays, karyotype and molecular biology.Les thrombopénies et thrombopathies constitutionnelles constituent un ensemble de pathologies rares dont le diagnostic est souvent difficile car il nécessite le recours à des analyses biologiques souvent réservées à des centres spécialisés. Elles sont probablement sous-diagnostiquées. Le clinicien devra les envisager devant une thrombopénie chronique ne répondant pas aux immunoglobulines intraveineuses et aux corticoïdes et la présence d’antécédents familiaux. Une thrombopénie syndromique sera suspectée en fonction des éléments de l’anamnèse familiale et de signes cliniques spécifiques. La confirmation du diagnostic nécessitera la réalisation d’examens biologiques spécialisés (agrégation plaquettaire, cytométrie en flux, microscopie électronique, tests de sécrétion, caryotype et biologie moléculaire)
Forced Stratified Turbulence: Successive Transitions with Reynolds Number
Numerical simulations are made for forced turbulence at a sequence of
increasing values of Reynolds number, R, keeping fixed a strongly stable,
volume-mean density stratification. At smaller values of R, the turbulent
velocity is mainly horizontal, and the momentum balance is approximately
cyclostrophic and hydrostatic. This is a regime dominated by so-called pancake
vortices, with only a weak excitation of internal gravity waves and large
values of the local Richardson number, Ri, everywhere. At higher values of R
there are successive transitions to (a) overturning motions with local
reversals in the density stratification and small or negative values of Ri; (b)
growth of a horizontally uniform vertical shear flow component; and (c) growth
of a large-scale vertical flow component. Throughout these transitions, pancake
vortices continue to dominate the large-scale part of the turbulence, and the
gravity wave component remains weak except at small scales.Comment: 8 pages, 5 figures (submitted to Phys. Rev. E
Estimating the Accuracy of Anal Cytology in the Presence of an Imperfect Reference Standard
Background: The study aim is to estimate sensitivity and specificity of anal cytology for histologic HSIL in analyses adjusted for the imperfect biopsy reference standard. Methods and Principal Findings: Retrospective cohort study of an anal dysplasia screening program for HIV infected adults. We estimated the prevalence of histologic HSIL by concurrent cytology category and the associated cytology ROC area. Cytology operating characteristics for HSIL were estimated and adjusted for the imperfect reference standard by 3 methodologies. The study cohort included 261 patients with 3 available measures: (1) referral cytology; (2) HRA cytology; and (3) HRA directed biopsy. The prevalence of biopsy HSIL varied according to the concurrent HRA cytology result: 64.5
Health-related quality of life after fast-track treatment results from a randomized controlled clinical equivalence trial
Purpose This randomized clinical equivalence trial was designed to evaluate health-related quality of life (HRQoL) after fast-track treatment for low-risk coronary artery bypass (CABG) patients. Methods Four hundred and ten CABG patients were randomly assigned to undergo either short-stay intensive care treatment (SSIC, 8 h of intensive care stay) or control treatment (care as usual, overnight intensive care stay). HRQoL was measured at baseline and 1 month, and one year after surgery using the multidimensional index of life quality (MILQ), the EQ-5D, the Beck Depression Inventory and the State-Trait Anxiety Inventory. Results At one month after surgery, no statistically significant difference in overall HRQoL was found (MILQ-score P-value = .508, overall MILQ-index P-value = .543, EQ-5D VAS P-value = .593). The scores on the MILQ-domains, physical, and social functioning were significantly higher at one month postoperatively in the SSIC group compared to the control group (P-value = .049; 95% CI: 0.01-2.50 and P-value =.014, 95% CI:0.24-2.06, respectively). However, these differences were no longer observed at long-term follow-up. Conclusions According to our definition of clinical equivalence, the HRQoL of SSIC patients is similar to patients receiving care as usual. Since safety and the financial benefits of this intervention were demonstrated in a previously reported analysis, SSIC can be considered as an adequate fast-track intensive care treatment option for low-risk CABG patients
sodC-Based Real-Time PCR for Detection of Neisseria meningitidis
Real-time PCR (rt-PCR) is a widely used molecular method for detection of
Neisseria meningitidis (Nm). Several rt-PCR assays for Nm
target the capsule transport gene, ctrA. However, over
16% of meningococcal carriage isolates lack ctrA,
rendering this target gene ineffective at identification of this sub-population
of meningococcal isolates. The Cu-Zn superoxide dismutase gene,
sodC, is found in Nm but not in other
Neisseria species. To better identify Nm, regardless of
capsule genotype or expression status, a sodC-based TaqMan
rt-PCR assay was developed and validated. Standard curves revealed an average
lower limit of detection of 73 genomes per reaction at cycle threshold
(Ct) value of 35, with 100% average reaction efficiency
and an average R2 of 0.9925. 99.7% (624/626) of Nm isolates
tested were sodC-positive, with a range of average
Ct values from 13.0 to 29.5. The mean sodC
Ct value of these Nm isolates was 17.6±2.2 (±SD).
Of the 626 Nm tested, 178 were nongroupable (NG) ctrA-negative
Nm isolates, and 98.9% (176/178) of these were detected by
sodC rt-PCR. The assay was 100% specific, with all
244 non-Nm isolates testing negative. Of 157 clinical specimens tested,
sodC detected 25/157 Nm or 4 additional specimens compared
to ctrA and 24 more than culture. Among 582 carriage specimens,
sodC detected Nm in 1 more than ctrA and
in 4 more than culture. This sodC rt-PCR assay is a highly
sensitive and specific method for detection of Nm, especially in carriage
studies where many meningococcal isolates lack capsule genes
Influence of the Ms-modulus on the early-age volume change and heat release of slag and fly ash pastes activated by sodium hydroxide and sodium silicate
Blended pastes composed of slag and fly ash (ratio 50:50) are used with sodium hydroxide and sodium silicate as precursors. Each composition has the same solution to binder ratio (S/B) and the Ms-modulus varies between 1.04 and 1.58. All the experiments were conducted at a constant temperature of 20°C. The physical mechanisms related to the volume change in sealed condition are studied by means of repeated thermal variation using an adapted Autoshrink device, a new testing protocol and by means of isothermal calorimetry tests. From these tests, the autogenous strain, the coefficient of thermal expansion (CTE) and the heat release are determined. It is observed from the results, that an increase of the Ms-modulus causes a decrease of the autogenous shrinkage and the CTE. A linear relationship is observed between the autogenous shrinkage and the heat release by the binder. Thus, the development of the autogenous shrinkage seems to be mainly driven by one major mechanism in case of slag and fly ash paste activated by sodium hydroxide and sodium silicate
Particle dispersion and mixing induced by breaking internal gravity
The purpose of this paper is to analyze diapycnal mixing induced by the breaking of an internal gravity wave — the primary wave — either standing or propagating. To achieve this aim we apply two different methods. The first method consists of a direct estimate of vertical eddy diffusion from particle dispersion while the second method relies upon potential energy budgets [Winters, K.B., Lombard, P.N., Riley, J.J., D’Asaro, E.A., 1995. J. Fluid Mech. 289, 115–128; Winters, K.B., D’Asaro, E.A., 1996. J. Fluid Mech. 317, 179–193]. The primary wave we consider is of small amplitude and is statically stable, a case for which the breaking process involves two-dimensional instabilities. The dynamics of the waves have been previously analyzed by means of two-dimensional direct numerical simulations [Bouruet-Aubertot, P., Sommeria, J., Staquet, C., 1995. J. Fluid Mech. 285, 265–301; Bouruet-Aubertot, P., Sommeria, J., Staquet, C., 1996. Dyn. Atmos. Oceans 29, 41–63; Koudella, C., Staquet, C., 1998. In: Davis, P. (Ed.), Proceedings of the IMA Conference on Mixing and Dispersion on Stably-stratified Flows, Dundee, September 1996. IMA Publication]. High resolution three-dimensional calculations of the same wave are also reported here [Koudella, C., 1999].A local estimate of mixing is first inferred from the time evolution of sets of particles released in the flow during the breaking regime. We show that, after an early evolution dominated by shear effects, a diffusion law is reached and the dispersion coefficient is fairly independent of the initial seeding location of the particles in the flow.The eddy diffusion coefficient, K, is then estimated from the diapycnal diffusive flux. A good agreement with the value inferred from particle dispersion is obtained. This finding is of particular interest regarding the interpretation of in situ estimates of K inferred either from tracer dispersion or from microstructure measurements. Computation of the Cox number, equal to the ratio of eddy diffusivity to molecular diffusivity, shows that the Cox number varies within the interval [9, 262], which corresponds to the range of vertical eddy diffusivity measured in the interior of the ocean. The Cox number is found to depend on the turbulent Froude number squared.We show eventually that mixing results in a weak distortion of the initial density profile and we relate this result to observations made at small scale in the ocean.Comparisons between the analysis of the two-dimensional and high resolution (2563) three-dimensional direct numerical simulations of the primary wave were also conducted. We show that the energetics and the amount of mixing are very close when the primary wave is of small amplitude. This results from the fact that, for a statically stable wave, the dynamics of the initially two-dimensional primary wave remains mostly two-dimensional even after the onset of wavebreaking
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