A translational research experience in Argentina.

Background: The Argentinean programwas initiatedmore than a decade ago as the first experience of systematic translational research focused on NCL in Latin America. The aim was to overcome misdiagnoses and underdiagnoses in the region. Subjects: 216 NCL suspected individuals from 8 different countries and their direct family members. Methods: Clinical assessment, enzyme testing, electron microscopy, and DNA screening. Results and discussion: 1) The study confirmed NCL disease in 122 subjects. Phenotypic studies comprised epileptic seizures and movement disorders, ophthalmology, neurophysiology, image analysis, rating scales, enzyme testing, and electron microscopy, carried out under a consensus algorithm; 2) DNA screening and validation of mutations in genes PPT1 (CLN1), TPP1 (CLN2), CLN3, CLN5, CLN6, MFSD8 (CLN7), and CLN8: characterization of variant types, novel/knownmutations and polymorphisms; 3) Progress of the epidemiological picture in Latin America; and 4) NCL-like pathology studies in progress. The Translational Research Program was highly efficient in addressing the misdiagnosis/underdiagnosis in the NCL disorders. The study of “orphan diseases” in a public administrated hospital should be adopted by the health systems, as it positively impacts upon the family's quality of life, the collection of epidemiological data, and triggers research advances. This article is part of a Special Issue entitled: “Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)”publishedVersio

On noise treatment in radio measurements of cosmic ray air showers

Precise measurements of the radio emission by cosmic ray air showers require an adequate treatment of noise. Unlike to usual experiments in particle physics, where noise always adds to the signal, radio noise can in principle decrease or increase the signal if it interferes by chance destructively or constructively. Consequently, noise cannot simply be subtracted from the signal, and its influence on amplitude and time measurement of radio pulses must be studied with care. First, noise has to be determined consistently with the definition of the radio signal which typically is the maximum field strength of the radio pulse. Second, the average impact of noise on radio pulse measurements at individual antennas is studied for LOPES. It is shown that a correct treatment of noise is especially important at low signal-to-noise ratios: noise can be the dominant source of uncertainty for pulse height and time measurements, and it can systematically flatten the slope of lateral distributions. The presented method can also be transfered to other experiments in radio and acoustic detection of cosmic rays and neutrinos.Comment: 4 pages, 6 figures, submitted to NIM A, Proceedings of ARENA 2010, Nantes, Franc

The wavefront of the radio signal emitted by cosmic ray air showers

Analyzing measurements of the LOPES antenna array together with corresponding CoREAS simulations for more than 300 measured events with energy above $10^{17}\,$eV and zenith angles smaller than $45^\circ$, we find that the radio wavefront of cosmic-ray air showers is of approximately hyperbolic shape. The simulations predict a slightly steeper wavefront towards East than towards West, but this asymmetry is negligible against the measurement uncertainties of LOPES. At axis distances $\gtrsim 50\,$m, the wavefront can be approximated by a simple cone. According to the simulations, the cone angle is clearly correlated with the shower maximum. Thus, we confirm earlier predictions that arrival time measurements can be used to study the longitudinal shower development, but now using a realistic wavefront. Moreover, we show that the hyperbolic wavefront is compatible with our measurement, and we present several experimental indications that the cone angle is indeed sensitive to the shower development. Consequently, the wavefront can be used to statistically study the primary composition of ultra-high energy cosmic rays. At LOPES, the experimentally achieved precision for the shower maximum is limited by measurement uncertainties to approximately $140\,$g/cm$^2$. But the simulations indicate that under better conditions this method might yield an accuracy for the atmospheric depth of the shower maximum, $X_\mathrm{max}$, better than $30\,$g/cm$^2$. This would be competitive with the established air-fluorescence and air-Cherenkov techniques, where the radio technique offers the advantage of a significantly higher duty-cycle. Finally, the hyperbolic wavefront can be used to reconstruct the shower geometry more accurately, which potentially allows a better reconstruction of all other shower parameters, too.Comment: accepted by JCA