Evaluation of the conventional surveying equipment applied to deformation analysis of heritage buildings. A case study: the bell tower of Santa María la Blanca church in Agoncillo (La Rioja, Spain)

Contributed to: "Measuring the Changes": 13th FIG International Symposium on Deformation Measurements and Analysis; 4th IAG Symposium on Geodesy for Geotechnical and Structural Enginering (Lisbon, Portugal, May 12-15, 2008).

Model of sources: a proposal for the hierarchy, merging strategy and representation of the information sources in virtual models of historical buildings

Contributed to: Fusion of Cultures: XXXVIII Annual Conference on Computer Applications and Quantitative Methods in Archaeology – CAA2010 (Granada, Spain, Apr 6-9, 2010)

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neurotrophic Growth Factor (NGF). -- Case Presentation: We present the case of a female patient diagnosed with CIPA at the age of 8 months. The patient is currently 6 years old and her psychomotor development conforms to her age (RMN, SPECT and psychological study are in the range of normality). PCR amplification of DNA, followed by direct sequencing, was used to investigate the presence of NTRK1 gene mutations. Reverse transcriptase (RT)-PCR amplification of RNA, followed by cloning and sequencing of isolated RT-PCR products was used to characterize the effect of the mutations on NTRK1 mRNA splicing. The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene. One of these alterations, c.574+1G > A, is located at the splice donor site of intron 5. We also found a second mutation, c.2206-2 A > G, not previously reported in the literature, which is located at the splice acceptor site of intron 16. Each parent was confirmed to be a carrier for one of the mutations by DNA sequencing analysis. It has been proposed that the c.574+1G > A mutation would cause exon 5 skipping during NTRK1 mRNA splicing. We could confirm this prediction and, more importantly, we provide evidence that the novel c.2206-2A > G mutation also disrupts normal NTRK1 splicing, leading to the use of an alternative splice acceptor site within exon 17. As a consequence, this mutation would result in the production of a mutant NTRK1 protein with a seven aminoacid in-frame deletion in its tyrosine kinase domain. --Conclusions: We present the first description of a CIPA-associated NTRK1 mutation causing a short interstitial deletion in the tyrosine kinase domain of the receptor. The possible phenotypical implications of this mutation are discussed.

La gestión de la innovación como la gestión de un ecosistema heterogéneo y estructurado

[ES] Este artículo aborda la innovación como un proceso evolutivo que toma lugar en un ecosistema heterogéneo estructurado. Esto permite entender la gestión de la innovación como la gestión de las interacciones en un ecosistema que se quiere modificar.

[R_Enciso_Concepcion] Levantamiento topográfico de la ermita y el crucero de la Concepción (Enciso, La Rioja)

[ES] Este proyecto tiene una continuación en el siguiente registro:

Squaring the circle. Social and environmental implications of pre-pottery neolithic building technology at Tell Qarassa (South Syria)

We present the results of the microstratigraphic, phytolith and wood charcoal study of the remains of a 10.5 ka roof. The roof is part of a building excavated at Tell Qarassa (South Syria), assigned to the Pre-Pottery Neolithic B period (PPNB). The Pre-Pottery Neolithic (PPN) period in the Levant coincides with the emergence of farming. This fundamental change in subsistence strategy implied the shift from mobile to settled aggregated life, and from tents and huts to hard buildings. As settled life spread across the Levant, a generalised transition from round to square buildings occurred, that is a trademark of the PPNB period. The study of these buildings is fundamental for the understanding of the ever-stronger reciprocal socio-ecological relationship humans developed with the local environment since the introduction of sedentism and domestication. Descriptions of buildings in PPN archaeological contexts are usually restricted to the macroscopic observation of wooden elements (posts and beams) and mineral components (daub, plaster and stone elements). Reconstructions of microscopic and organic components are frequently based on ethnographic analogy. The direct study of macroscopic and microscopic, organic and mineral, building components performed at Tell Qarassa provides new insights on building conception, maintenance, use and destruction. These elements reflect new emerging paradigms in the relationship between Neolithic societies and the environment. A square building was possibly covered here with a radial roof, providing a glance into a topologic shift in the conception and understanding of volumes, from round-based to square-based geometries. Macroscopic and microscopic roof components indicate buildings were conceived for year-round residence rather than seasonal mobility. This implied performing maintenance and restoration of partially damaged buildings, as well as their adaptation to seasonal variability

[B_Zalla_Bolunburu] Documentación Geométrica de la Ferrería Bolunburu (Zalla, Bizkaia)

[ES] El conjunto de dos edificios divididos en varias estancias, un canal de captación de aguas y un puente, todo ello arruinado. Los muros aún se mantienen en pie aunque ya no quedan restos de los tejados ni del mobiliario, maquinaria o decoración.

Frame-level features conveying phonetic information for language and speaker recognition

150 p.

Frame presentations: variants of the reals, rings of functions, their Dedekind completions, and the unit circle

176 p.