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Ataxia-telangiectasia is a multisystemic disease with severe neurological affectation, immunodeficiency and telangiectasia. The disorder is caused by alterations in the ATM gene, whose size and complexity make molecular diagnosis difficult. We designed a target-enrichment next-generation sequencing strategy to characterize 28 patients from several regions of Spain. This approach allowed us to identify gene variants affecting function in 54 out of the 56 alleles analyzed, although the two unresolved alleles belong to brothers. We found 28 ATM gene mutations, of which 10 have not been reported. A total of 171 gene variants not affecting function were also found, of which 22 are reported to predispose to disease. Interestingly, all Roma (Spanish Gypsies) patients are homozygous for the same mutation and share the H3 ATM haplotype, which is strong evidence of a founder effect in this population. In addition, we generated a panel of 27 primary T cell lines from A-T patients, which revealed significant expression of ATM in two patients and traces of the protein in nine more. None of them retained residual ATM activity, and almost all T cell lines show increased or intermediate radiosensitivity.

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La ciencia y nosotros Ciencia como algoritmiaMuchAs fuenTes, no sóLo Wikipedia, vinculan la palabra "algoritmo" a una obra del científico musulmán al-Jwarizmi, que vivió en Persia entre los siglos VIII y IX. La Real Academia Española da una etimología diferente, pero su definición de "algoritmo" como "un conjunto ordenado y finito de operaciones que permite hallar la solución de un problema" es de amplia aceptación. En origen las operaciones se referían a números arábigos, al cálculo aritmético. Pero la noción de algoritmo se ha extendido al tratamiento de símbolos algebraicos o signos de cualquier clase. Remite ahora, en general, a procesos de computación controlada de la información para ejecutar tareas o programas, por ejemplo mediante ordenadores. Hay algoritmos de muchas clases, incluso probabilísticos y recursivos. Son muy interesantes los algoritmos evolutivos o genéticos que, en inteligencia artificial, manipulan información codificada digitalmente de manera similar a como evoluciona la información biológica registrada en forma de DNA; es decir, mediante replicación, variación y selección.Podría verse la ciencia y los procedimientos cientí-ficos a lo largo de la trayectoria del homo sapiens como una algoritmia evolutiva de la información transmitida culturalmente (no genética): una algoritmia dirigida a representar y manipular la realidad de manera cada vez más eficiente. Se trata de una concepción no alejada de la de hull (1988), Thagard (1993) y otros. La información científica aparece así como un segmento cre-

Introduction: Ongoing research in the use of electromagnetic stimulation as coadjuvant in fracture healing has led the authors to begin generating computer models in order to predict cellular growth changes when cells are electromagnetically stimulated. By generating these models, scientists will be able to better understand how electromagnetic fields affect cellular development. The experimental design integrated a cellular culture bioreactor along with an external magnetic stimulation system, which allowed for dermal models to be exposed to controlled magnetic fields. Methods: Initially, it was necessary to analyze the static growth of Normal Human Skin Fibroblast (NHSF) cells when they were exposed to Extremely Low Frequency -Electromagnetic Fields (ELF-EMFs). Using optimal conditions for the NHSF culture, from stimulation signal to scaffolding material, we were able to perform the dynamic flow stimulation experiments. Results: The following systems were developed: (1) a bioreactor aimed at cellular tissue culture, and (2) Helmholtz coils capable of generating stimulation signals for the cultured tissue. The authors were able to appreciate the quantified values of cellular density diluted in all the experiment samples that were taken and overall, the irradiated samples displayed an average increase of 53% higher cellular density for the same amount of initial cellular seeding when the cells were exposed to a 1 mT, 60 Hz magnetic field signal. Conclusion: ELF-EMF's indeed alter NHSF cell growth rates and it is the challenge of the authors to continue investigating what cellular mechanisms are altered when cells are exposed to ELF-EMF's.