Influence of antecedent soil moisture content and land use on the surface runoff response to heavy rainfall simulation experiments investigated in Alpine catchments.

In small Alpine catchments, floods are mostly triggered by surface runoff generation during convective heavy precipitation events. Their magnitude also depends on the antecedent soil moisture content, which was shown in several previous studies. This study aims at understanding (a) which sites change their surface runoff response to rainfall events with high precipitation intensity under very moist pre-conditions to what extent and (b) on which site characteristics this depends on. Therefore, we conducted repeated rainfall simulation experiments (40-80 m2, 1 h, 100 mm h-1) at 20 sites in five Eastern Alpine areas and analyzed their results on the basis of soil-physical parameters derived from collected soil samples. The hay meadow sites reacted with a strong increase in surface runoff to reduced saturation deficits, the pasture sites showed a smaller but visible response. The forest sites had the highest water retention capacities. The change in the surface runoff response is a function of the saturation deficit at the beginning of the initial experiment (r = -0.58). The soil physical parameters, especially the fine pore fraction (r = 0.56), correlate with the difference of the total surface runoff coefficient between the initial and the repeated experiment. The fine pore fraction also shows a high correlation (r = -0.78) with the saturation deficit at the beginning of the initial experiment, although pores of this fraction were saturated during all experiments. (Non-quantifiable) Land use effects, which in turn influence the soil physical parameters, play an important role in explaining how the surface runoff response in the repeated rainfall simulation experiment differs from the initial experiment. The information on land use and soil characteristics allowed the sites to be categorized into four types in terms of surface runoff disposition and the increase in total surface runoff coefficient in the second rainfall simulation experiment.

Morphometric MRI analysis enhances visualization of cortical tubers in tuberous sclerosis.

PURPOSE: Focal cortical dysplasias (FCD) type IIb and cortical tubers in tuberous sclerosis complex (TSC) are histopathologically similar and are both epileptogenic lesions frequently causing pharmacoresistant epilepsies. Morphometric analysis of T1- and T2-weighted MRI volume data sets can enhance visualization of FCD. Here, we retrospectively investigated whether morphometric MRI analysis is of equal benefit for visualizing cortical tubers. MATERIALS AND METHODS: Morphometric analysis was applied to T1- and partly also T2-weighted 1.5T or 3T MRI volume data sets of 15 TSC patients using a fully automated MATLAB(®) script (i.e. MAP07) commonly used for FCD detection. In this study, focus was on the most sensitive of the resulting morphometric feature maps (i.e. the 'junction image') which highlights blurring of the gray-white matter junction in comparison to a normal database. The visualization of tubers in these 'junction images' was quantitatively compared with that in conventional MR sequences. RESULTS: In all patients, morphometric analysis visualized almost all tubers detected in the normal MRI, and additionally highlighted on average 23% (range 3-50%) more tubers which were not detected by visual analysis of the conventional MR sequences. When T2 volume data sets from a 3T scanner were available for postprocessing, the rate of additionally detected tubers increased to 29% on average. These formerly overlooked tubers were usually smaller than the tubers already found in the conventional MRI. CONCLUSION: Morphometric analysis of MRIs in TSC can highlight cortical tubers which are likely to be overlooked in conventional MRI sequences alone. Additionally detected tubers may be of potential importance for both presurgical evaluation and initial diagnosis of TSC.

Unusual variability of PRRT2 linked phenotypes within a family.

BACKGROUND: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene on chromosome 16p11.2 have recently been identified as a cause of paroxysmal kinesigenic dyskinesias (PKD), infantile convulsions and choreoathetosis (ICCA) syndrome or infantile convulsions (IC). AIMS: Here, we describe a family with four affected members. They all suffer from different diseases: febrile convulsion, epileptic seizures, PKD or headache. METHODS: The whole coding region of PRRT2 gene has been analyzed. RESULTS: Molecular testing revealed the PRRT2 gene mutation c649.delC in exon 2 for all three sibs as well as for the mother. CONCLUSION: Our presented family case shows the great variability within PRRT2 linked phenotypes even within the same family. Further and more detailed studies will be needed before genetic findings enter into the daily diagnostic and the daily genetic counseling with all its consequences.