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Gitelman syndrome (GS) is clinically heterogeneous. The genotype and phenotype correlation has not been well established. Though the long-term prognosis is considered to be favorable, hypokalemia is difficult to cure. To analyze the clinical and genetic characteristics and treatment of all members of 13 GS pedigrees. Thirteen pedigrees (86 members, 17 GS patients) were enrolled. Symptoms and management, laboratory findings, and genotype–phenotype associations among all the members were analyzed. The average ages at onset and diagnosis were 27.6 ± 10.2 years and 37.9 ± 11.6 years, respectively. Males were an average of 10 years younger and exhibited more profound hypokalemia than females. Eighteen mutations were detected. Two novel mutations (p.W939X, p.G212S) were predicted to be pathogenic by bioinformatic analysis. GS patients exhibited the lowest blood pressure, serum K+, Mg2+, and 24-h urinary Ca2+levels. Although blood pressure, serum K+and Mg2+levels were normal in heterozygous carriers, 24-h urinary Na+excretion was significantly increased. During follow-up, only 41.2% of patients reached a normal serum K+level. Over 80% of patients achieved a normal Mg2+level. Patients were taking 2–3 medications at higher doses than usual prescription to stabilize their K+levels. Six patients were taking spironolactone simultaneously, but no significant elevation in the serum K+level was observed. The phenotypic variability of GS and therapeutic strategies deserve further research to improve GS diagnosis and prognosis. Even heterozygous carriers exhibited increased 24-h Na+urine excretion, which may make them more susceptible to diuretic-induced hypokalemia.

One-dimensional model is an important way to evaluate the performance and flow characteristics of dual-mode scramjet combustor. Current work is based on a modified one-dimensional model assisted by measurements acquired on a direct-connected scramjet facility. CH* images and gas-sampling facility have been employed to quantify heat release for optimizing one-dimensional model. The results show that modified one-dimensional model gives a better evaluation of axis parameters distribution, especially for Mach number, which is the standard parameter to evaluate combustion mode. The ram/scram mode derived by the analytical results has been investigated. Intensive heat release is beneficial to obtain more stable pre-combustion shock and subsonic flow in the recirculation zone.

Optical investigation are reported of 2TW, 45fs Ti:sapphire laser pulses in an optically ionized helium gas. The stimulated Raman backscattering (BSRS) spectrum, together with ion energy spectrum, are measured as a function of the electron density from 4.8x1018/cm3to 1.4x1019/cm3. The SRS reflectivity and the phenomena of transition from strongly coupled BSRS to weakly coupled BSRS were studied and compared with theory. Second harmonic emission in forward direction was also observed, and its origin is due to the radial electron density gradient caused by the ionization process. A good agreement is obtained between theory and experimental results.

An experimental investigation on the interaction between ultra-short intense laser pulses and microcapillary has been carried out. The X spectrum from glass microcapillary is obtained successfully. Experimental results show that the X-ray radiation enhanced intensively with increasing the capillary length. In the same condition, the X-ray radiation yields of capillary target are more than one order higher than that of plane one. The average electron temperature of capillary plasma is higher when the laser pulse energy is increased.

Understanding and estimating the energy consumed by machining are essential tasks as the energy consumption during machining is responsible for a substantial part of the environmental burden in manufacturing industry. Facing the problem, the present paper aims to analyse the correlation between numerical control (NC) codes and energy-consuming components of machine tools, and to propose a practical method for estimating the energy consumption of NC machining. Each energy-consuming component is respectively estimated by considering its power characteristics and the parameters extracted from the NC codes, and then the procedure estimating energy consumption is developed by accounting for the total energy consumption of the components via the NC program. The developed method is verified by comparing the estimated energy consumption with the actual measurement results of machining two test workpieces on two different machine tools, an NC milling machine and an NC lathe, and is also applied to evaluate the energy consumption of two different NC programs on the NC milling machine. The results obtained show that the method is efficient and practical, and can help process planning designers make robust decisions in choosing an effective energy-efficient NC program.

The interaction of CD40 with CD154 is a pivotal trigger of immune cascade-inducing acute liver failure, however its clinical significance has not been well studied. The present study aimed to investigate the clinical implications of serum-soluble CD154 (sCD154) levels and the expression of CD40 on monocytes in patients with fulminant hepatic failure (FHF). The results showed that serum sCD154 levels and CD40 expression on monocytes were significantly higher in FHF patients than in acute hepatitis (AH) patients and healthy controls, and were also significantly higher in FHF patients who died, compared with those who survived. We conclude that high serum levels of sCD154 may be linked to fatal outcome in patients with severe liver injury and may be a valuable prognostic marker for survival in patients with FHF.

The shape of the liquid–gas coexistence curve of 3He very near the critical point temperature Tcwas measured in the range −5× 10−3

The earlier microgravity heat capacity measurements in SF6by Haupt and Straub have been reanalyzed in this study. A simple power law as well as the minimal-subtraction renormalization (MSR) scheme were used to fit the measurements. In this paper the unexpected result that the SF6heat capacity measurements appear to be within the asymptotic critical region all the way out to a reduced temperature |t| ≃ 10−2is presented. This conclusion is in contradiction with the smaller asymptotic region |t| < 1.6× 10−4found in the original investigation. These heat capacity measurements were found to be inconsistent with renormalization group predictions using SF6compressibility measurements.

A challenging problem is to experimentally resolve the Yang-Yang dilemma for fluids-whether the critical singularity of the isochoric heat capacity is shared between the second temperature derivatives of pressure and chemical potentials. In the lattice-gas model, which serves as a well-established guidance to study fluid criticality, the divergence of the second derivative of pressure is solely responsible for the heat capacity anomaly. If it is proven that the heat capacity singularity is shared between the pressure and chemical potential derivatives, a revision of the conventional scaling theory for fluids based on the analogy between fluids and lattice-gas model will be required. Thus far, experiments on real fluids have been inconclusive, in particular, because of possible impurity effects and the intrinsic vapor-liquid asymmetry. A study of the 3He isotope gives a unique opportunity to resolve the Yang-Yang dilemma. In 3He all other impurities except 4He are frozen out. The almost perfect purity of the available 3He samples (typically less than 1 ppm of 4He in 3He) enables the elimination or quantitative study of impurity effects. Also the well-known symmetry of the 3He coexistence curve implies an absence of confluent singularities caused by liquid-gas asymmetry. In this paper we reanalyze early experimental data of near-critical 3He and show that they are internally not completely consistent. While the second derivative of chemical potential obtained from the density dependence of the two-phase isochoric heat capacity does not show a noticeable anomaly, the analysis of the same property obtained by combining the PVT and heat capacity implies the existence of the Yang-Yang anomaly. An unambiguous test of the Yang-Yang dilemma will require more accurate heat-capacity measurements closer to the critical point. To thoroughly distinguish between these alternatives one may ultimately require a microgravity experiment that will allow measurements very close to the critical point.

An experimental study of the thermal response to a stepwise rise of the wall temperature of two-phase near-critical SF6in low gravity for an initial temperature ranging from 0.1 to 10.1 K from the critical temperature is described. The change in the vapor temperature with time considerably exceeds the change in the wall temperature (overheating by up to 23% of the wall temperature rise). This strong vapor overheating phenomenon results from the inhomogeneous adiabatic heating process occurring in the two-phase near-critical fluid while the vapor bubble is thermally isolated from the thermostated walls by the liquid. One-dimensional numerical simulations of heat transfer in near-critical two-phase 3He confirm this explanation. The influence of heat and mass transfer between gas and liquid occurring at short time scales on the thermal behavior is analyzed. A model for adiabatic heat transfer, which neglects phase change but accounts for the difference between the thermophysical properties of the vapor and those of the liquid, is presented. A new characteristic time scale of adiabatic heat transfer is derived, which is found to be larger than that in a one-phase liquid and vapor.

The performance of an energy sensitive, niobium superconducting tunnel junction (STJ) detector is investigated by measuring the pulse height produced by impacting molecular and atomic ions at different kinetic energies. Ions are produced by laser desorption and matrix-assisted laser desorption in a time-of-flight mass spectrometer. Our results show that the STJ detector pulse height decreases for increasing molecular ion mass, passes through a minimum at around 2000 Da, and then increases with increasing mass of molecular ions above 2000 Da. The detector does not show a decline in sensitivity for high mass ions as is observed with microchannel plate ion detectors. These detector plus height measurements are discussed in terms of several physical mechanisms involved in an ion-surface collision. Copyright © 2000 John Wiley & Sons, Ltd.

The performance of an energy sensitive, niobium superconducting tunnel junction (STJ) detector is investigated by measuring the pulse height produced by impacting molecular and atomic ions at different kinetic energies. Ions are produced by laser desorption and matrix‐assisted laser desorption in a time‐of‐flight mass spectrometer. Our results show that the STJ detector pulse height decreases for increasing molecular ion mass, passes through a minimum at around 2000 Da, and then increases with increasing mass of molecular ions above 2000 Da. The detector does not show a decline in sensitivity for high mass ions as is observed with microchannel plate ion detectors. These detector plus height measurements are discussed in terms of several physical mechanisms involved in an ion‐surface collision. Copyright © 2000 John Wiley & Sons, Ltd.

An apparatus to study the battery system has been set up. The thermal effects of charge and discharge of Ni-MH batteries have been studied. The calorimetric measurements indicate that the net heat dissipation during charging is larger than that during discharging. It is observed that the ratio of heat dissipation to charging energy varies with charging capacity, and almost 90 percent of charging energy is lost as heat dissipation near the end of the charging process at 97.7 mA. A jump of thermal curve near the end of discharge due to a secondary electrode reaction has been observed.

In this work some calorimetric measurements were also carried out on the electrorefining silver by using different current densities with a Calvet type microcalorimeter at room temperature. The ratio (R) of the measured heat ( $$Q$$ m) to the input electric energy ( $$Q$$ in) and the excess heat ( $$Q$$ ex), i.e., difference between $$Q$$ mand $$Q$$ induring the electrorefining process, were discussed in terms of general thermodynamics. It was found that the Rand $$Q$$ exfor silver were related with the current density or cell voltage employed in the experiment. The results obtained here also indicate that the heat generation under different conditions, such as different currents or voltages may be caused partially by the irreversibility of the process or by some unknown processes.

Measurements of the specific heat at constant volume and isothermal compressibility have been made along a near critical isochore in the liquid-gas critical region of3He. The critical density was determined to within 0.1% from pressure-density measurements along a near critical isotherm in the single phase region. The specific heat was measured in the gravity affected region in the reduced temperature range|T/Tc− 1| ≤ 3 × 10−4using a slow cooling drift technique. A new electrostriction technique was developed to measure the isothermal compressibility along isochores and isotherms near the critical point. Initial measurements that validate this new technique will also be presented.

An experimental study is presented for the thermal conductivity ? and the thermal relaxation for dilute mixtures of3He in4He with concentration 9×10-4?X(3He)?5×10-2 at saturated vapor pressure and in the normal phase near the superfluid transition. The conductivity results for ? are compared with predictions by Dohm and Folk from field-theoretic renormalization group(RG) theory. The conductivity ?s=[?-1(T)-?-1(T?)]-1, is compared with Ahlers' phenomenological arguments, and also with predictions by Dohm and Folk and by Onuki. The temperature difference transient ?T(t) across the fluid, measured as a function of timet after switching on and off the heat current, is analyzed. The thermal diffusion ratiokT and the mass diffusion coefficientD are obtained by fitting the calculated transient to the experimental one. The results are compared with the predictions that follow from the RG approach by Dohm and Folk. Very good agreement is obtained forkT. The transient is not very sensitive toD, and hence the determination is not accurate. Yet within the uncertainty, the deducedD also agrees with predictions. Appendices give (1) the corrections to ? from finite heat effects, (2) the calculation of the concentration susceptibility (?X/??)T,P, and (3) the calculation procedure for ?,kT, andD using the RG approach of Dohm and Folk.

Tissue plasminogen activator binds to endothelial cells via the calcium-regulated phospholipid-binding protein annexin II, an interaction that is inhibited by the prothrombotic amino acid homocysteine. We sought to identify the tissue plasminogen activator binding domain of annexin II and to determine the mechanism of its modulation by homocysteine. Tissue plasminogen activator binding to immobilized annexin II was inhibited by intact fluid phase annexin II but not by its "core" fragment (residues 25-339). Two overlapping "tail" peptides specifically blocked 65-75% of binding. Localization of the tissue plasminogen activator binding domain was confirmed upon specific inhibition by the hexapeptide LCKLSL (residues 7-12). Expressed C9G annexin II protein failed to support tissue plasminogen activator binding, while binding to C133G, C262G, and C335G was equivalent to that of wild type annexin II. Upon exposure to homocysteine, annexin II underwent a 135 +/- 4-Da increase in mass localizing specifically to Cys9 and a 60-66% loss in tissue plasminogen activator-binding capacity (I50 = 11 microM). Upon treatment of cultured endothelial cells with [35S]homocysteine, the dithiothreitol-sensitive label was recovered by immunoprecipitation with anti-annexin II IgG. These data provide a potential mechanism for the prothrombotic effect of homocysteine by demonstrating direct blockade of the tissue plasminogen activator binding domain of annexin II.

In this investigation, the 3D stress field of a single cylindrical fiber, which is embedded into a plate matrix, is examined. The composite body is subjected to an axial loading and both perfect imperfect bonding conditions at the interface are considered. The analysis, which is based on analytical considerations, reveals the load transfer characteristics from the fiber to the matrix and vice versa. Numerical results for the displacement and stress fields are given and shown to be sensitive to the diameter to thickness ratio, the respective material properties and the applied load ratio between the fiber and the matrix. Comparisons with available experimental data shows a very good agreement.

Measurements of the average thermal conductivity ?exp =hQ/?T and of the thermal relaxation time t to reach steady-state equilibrium conditions are reported in the superfluid phase for dilute mixtures of3He in4He. Hereh is the cell height,Q is the heat flux, and?T is the temperature difference across the fluid layer. The measurements were made over the impurity range 2×10-93He)<3×10-2 and with heat fluxes 0.32. Assuming the boundary resistanceRb, measured forX<10-5, to be independent ofX over the whole range ofX, a calculation is given for ?exp. ForQ smaller than a well-defined critical heat fluxQc (X) ?X0.9, ?exp is independent of Q and can be identified with the local conductivity ?eff, which is found to be independent of the reduced temperature ? = (T-T?)/T? for -?=10-2. Its extrapolated value at T? is found to depart forX?10-3 from the prediction ?? ?X-1, tending instead to a weaker divergence ?? ?X-a witha˜0.08. A finite conductivity asX tends to zero is not excluded by the data, however. ForQ >Qc(X), a nonlinear regime is entered. ForX?10-6, the measurements with the available temperature resolution are limited to the nonlinear conditions, but can be extrapolated into the linear regime forX?2×10-7. The results for ?exp(Q),Qc(X), and ?eff(XX) are found to be internally consistent, as shown by comparison with a theory by Behringer based on Khalatnikov's transport equations. Furthermore, the observed relaxation times t(X) in the linear regime are found to be consistent forX>10-5 with the hydrodynamic calculations using the measured ?eff(X). ForX<10-5, a faster relaxation mechanism than predicted seems to dominate. The transport properties in the nonlinear regimes are presented and unexplained observations are discussed.

The thermal conductivity ? and the associated relaxation time t to reach steady-state conditions are reported for the normal phase of several very dilute mixtures of3He in4He (X<4 × 10-6) at saturated vapor pressure near T?. The measurements were made over the reduced temperature range 2.5 × 10-6-1, where ? = (T-T?)/T?, and are representative for pure4He. The spacing between the cell plates was 0.147 cm. The systematic uncertainty in the conductivity data is estimated to increase from ~2% for ?=0.2 to ~4% for ?=3 × 10-6. The random scatter due to finite temperature resolution increases to ~7% at the smallest ?. The data are in agreement within the combined uncertainty with recent ones by Tam and Ahlers (cell F, spacing 0.20 cm) and with previous ones in this laboratory taken with a different plate spacing. The thermal diffusivity coefficientDT = ? / ?Cp obtained from t is found to agree within better than 15% with the calculated one using data for ?, the density ?, and the specific heatCp. Measurements of the effective boundary resistivityRb in the superfluid phase are described.Rb is found to depend on the thermal history of the cell when cycled up to 77 K and above. Also,Rb shows the beginning of an anomalous increase for ¦?¦?10-4. The possible reasons for this anomaly are discussed, and their impact on the analysis of conductivity data in the normal phase is appraised.

A cell for the simultaneous measurements of temperature and3He concentration gradients, induced by a heat currentQ across a fluid helium layer is described. This cell is operated over the temperature range 1.7≤T<2.5 K. Measurement of the anomalous boundary resistance ΔRb in superfluid4He(X(3He)∼2 ppb) near Tλ for heat currents between 8 and 47 µW/cm2 are described. The results for both the weakly divergent and the heat-dependent, more strongly divergent contributions to ΔRb are presented. The observed amplitude of the linear part is found to be larger than predictions by Onuki, by Ginzburg and Sobaynin and by Frank and Dohm, and also larger than recent data by Duncan and Ahlers (DA). These discrepancies are discussed in the light of the effective boundary area in the cell. The nonlinear part of ΔRb is consistent with the data by DA. It is found that the maximum observed ΔRb at the superfluid transition is independent ofQ. Analysis of the conductivity data of mixtures leads to the conjecture that ΔRb will decrease will the addition of3He. Our measurement of both the effective thermal diffusion ratiokT* and of the thermal conductivity κeff over the range 10−6−2 show departures from the predictions by Khalatnikov. In particular forX<10−3,kT* is found to be a function of X, and κeff deviates from the predicted κeff∝X−1. This last result confirms measurements with a previous cell. In the appendices, determinations and tabulations of auxiliary thermodynamic derivatives, such as (∂V/∂X)T,P and (∂S/∂X)T,P are presented.

Both the off-diagonal Seebeck effect and the off-diagonal Peltier effect were investigated on the same textured sample YBa2Cu3O7−δand with the use of the same experimental setup. The effectiveness of several kinds of heat-conductive media was studied for the measurement. The flatness of both the sample and the heat-conducting block, and the matching between them were found very important for the reduction of the heat resistance of the interfaces. A reasonable agreement was found between the off-diagonal Seebeck coefficient measured by the off-diagonal Seebeck effect and that by the off-diagonal Peltier effect. The steplike feature in the relation between the off-diagonal Seebeck coefficient and the annealing temperature may imply a nonmonotonous change of the Seebeck coefficient along the caxis (Sc) with oxygen content.

Les kératodermies palmo-plantaires focales (KPPF) héréditaires sont caractérisées par une hyperkératose localisée des paumes et des plantes, volontiers aux points d’appui. Elles sont dues à des mutations de gènes codant pour des protéines essentielles pour l’intégrité mécanique de la peau. Nous rapportons dans notre travail, une nouvelle forme de KPPF héréditaire autosomique dominante, qui prédispose au développement de carcinome épidermoïde.