We report a total of 23 novel mutations of the SLC2A2 ( GLUT2) gene in 49 patients with a clinical diagnosis of Fanconi-Bickel syndrome (FBS). Molecular genetic analysis has now been performed in more than 50% of the 109 FBS cases from 88 families that we have been able to locate world-wide since the original report in 1949. In these 49 patients, 33 different SLC2A2 mutations (9 missense, 7 nonsense, 10 frameshift, 7 splice-site) have been detected. Thus, our results confirm that mutations of SLC2A2 are the basic defect in patients with FBS. Mutations of SLC2A2 were detected in historical FBS patients in whom some of the characteristic clinical features (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy) and the effect of therapy were described for the first time. Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, the absence of hepatomegaly, or renal hyperfiltration. No single prevalent SLC2A2 mutation was responsible for a significant number of cases. In a high percentage (74%) of FBS patients, the mutation is homozygous, so we conclude that the prevalence of SLC2A2 mutations is relatively low in most populations. No mutational hot spots within SLC2A2 or even within homologous sequences among the genes for facilitative glucose transporters were detected.

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A dust density wave field is observed in a cloud of nanodust particles confined in a radio frequency plasma. Simultaneous measurements of the dust properties, grain size and density, as well as the wave parameters, frequency and wave number, allow for an estimate of the ion density, ion drift velocity, and the dust charge using a hybrid model for the wave dispersion. It appears that the charge on the dust grains in the cloud is drastically reduced to tens of elementary charges compared with isolated dust particles in a plasma. The charge is much higher at the cloud's periphery, i.e., towards the void in the plasma center and also towards the outer edge of the cloud.

Plasmas growing or containing nanometric dust particles are widely used and proposed in plasma technological applications for production of nano-crystals and surface deposition. Here, we give a compact review of in-situ methods for the diagnostics of nanodust and nanodusty plasmas, which have been developed in the framework of the SFB-TR24 to fully characterize these systems. The methods include kinetic Mie ellipsometry, angular-resolved Mie scattering, and 2D imaging Mie ellipsometry to get information about particle growth processes, particle sizes and particle size distributions. There, also the role of multiple scattering events is analyzed using radiative transfer simulations. Computed tomography and Abel inversion techniques to get the 3D dust density profiles of the particle cloud will be presented. Diagnostics of the dust dynamics yields fundamental dust and plasma properties like particle charges and electron and ion densities. Since nanodusty plasmas usually form dense dust clouds electron depletion (Havnes effect) is found to be significant.

The 3D dust distribution in dense dust clouds confined in argon rf plasmas is measured by a computed tomography (CT) technique based on the extinction of visible light. On the one hand, clouds of micron-sized particles were created by injecting standardized plastic particles into the plasma. On the other hand, sub-micron sized dust with well-defined properties is grown in situ in an argon acetylene mixture. Once created, both kinds of dust clouds decay in the course of minutes to hours. This decay is monitored by CT measurements. It is revealed that micro-dust clouds feature a drastic change of the dust distribution due to a size reduction of the dust. Dust clouds of sub-micron particles, in contrast, show a strong variation of the overall dust density while the relative dust distribution remains nearly unchanged. The evolution of the overall dust density is subject to two effects: the loss of particles due to an imperfect confinement and the reduction of the dust size via etching.