Iron Transformation Pathways and Redox Micro-Environments in Seafloor Sulfide-Mineral Deposits: Spatially Resolved Fe XAS and delta Fe-57/54 Observations

Hydrothermal sulfide chimneys located along the global system of oceanic spreading centers are habitats for microbial life during active venting. Hydrothermally extinct, or inactive, sulfide deposits also host microbial communities at globally distributed sites. The main goal of this study is to describe Fe transformation pathways, through precipitation and oxidation-reduction (redox) reactions, and examine transformation products for signatures of biological activity using Fe mineralogy and stable isotope approaches. The study includes active and inactive sulfides from the East Pacific Rise 9 degrees 50'N vent field. First, the mineralogy of Fe(III)-bearing precipitates is investigated using microprobe X-ray absorption spectroscopy (RXAS) and X-ray diffraction (mu XRD). Second, laser-ablation (LA) and micro-drilling (MD) are used to obtain spatially-resolved Fe stable isotope analysis by multicollector-inductively coupled plasma-mass spectrometry (MC-ICP-MS). Eight Fe -bearing minerals representing three mineralogical classes are present in the samples: oxyhydroxides, secondary phyllosilicates, and sulfides. For Fe oxyhydroxides within chimney walls and layers of Si-rich material, enrichments in both heavy and light Fe isotopes relative to pyrite are observed, yielding a range of delta Fe-57 values up to 6 parts per thousand. Overall, several pathways for Fe transformation are observed. Pathway 1 is characterized by precipitation of primary sulfide minerals from Fe(II)aq-rich fluids in zones of mixing between vent fluids and seawater. Pathway 2 is also consistent with zones of mixing but involves precipitation of sulfide minerals from Fe(II)aq generated by Fe(III) reduction. Pathway 3 is direct oxidation of Fe(II) aq from hydrothermal fluids to form Fe(III) precipitates. Finally, Pathway 4 involves oxidative alteration of pre-existing sulfide minerals to form Fe(III). The Fe mineralogy and isotope data do not support or refute a unique biological role in sulfide alteration. The findings reveal a dynamic range of Fe transformation pathways consistent with a continuum of micro-environments having variable redox conditions. These micro-environments likely support redox cycling of Fe and S and are consistent with culture-dependent and -independent assessments of microbial physiology and genetic diversity of hydrothermal sulfide deposits.

Bull's eye leaky wave antenna for terrestrial and space applications

This work presents the study of Bull's eye antenna designs, a type of leaky wave antenna (LWA), operating in the 60 GHz band. This band emerged as a new standard for specific terrestrial and space applications because the radio spectrumbecomes more congested up to the millimetre-wave band, starting at 30 GHz. Built on existing Bull's eye antenna designs, novel structures were simulated, fabricated and measured, so as to provide more exibility in the implementation of wireless solutions at this frequency. Firstly, the study of a 60 GHz Bull's eye antenna for straightforward integration onto a CubeSat is presented. An investigation of the design is carried out, from the description of the radiation mechanism supported by simulation results, to the radiation pattern measurement of a prototype which provides a gain of 19.1 dBi at boresight. Another design, based on a modified feed structure, uses a microstrip to waveguide transition to provide easier and inexpensive integration of a Bull's eye antenna onto a planar circuit. Secondly, the design of Bull's eye antennas capable of creating beam deflection and multi-beam is presented. In particular, a detail study of the deflection mechanism is proposed, followed by the demonstration of a Bull's eye antenna generating two separate beams at ±16° away from the boresight. In addition, a novel mechanically steerable Bull's eye antenna, based on the division of the corrugated area in paired sectors is presented. A prototype was fabricated and measured. It generated double beams at ±8° and ±15° from the boresight, and a single boresight beam. Thirdly, a Bull's eye antenna capable of generating two simultaneous orbital angular momentum (OAM) modes l = 3 is proposed. The design is based on a circular travelling wave resonator and would allow channel capacity increase through OAM multiplexing. An improved design based on two stacked OAM Bull's eye antennas capable of producing four orthogonal OAM modes l = (±3,±13) simultaneously is presented. A novel receiving scheme based on discretely sampled partial aperture receivers (DSPAR) is then introduced. This solution could provide a lower windage and a lower cost of implementation than current whole or partial continuous aperture.

Extremal graphs for the sum of the two largest signless Laplacian eigenvalues

Let G be a simple graph on n vertices and e(G) edges. Consider the signless Laplacian, Q(G) = D + A, where A is the adjacency matrix and D is the diagonal matrix of the vertices degree of G. Let q1(G) and q2(G) be the first and the second largest eigenvalues of Q(G), respectively, and denote by S+ n the star graph with an additional edge. It is proved that inequality q1(G)+q2(G) e(G)+3 is tighter for the graph S+ n among all firefly graphs and also tighter to S+ n than to the graphs Kk _ Kn−k recently presented by Ashraf, Omidi and Tayfeh-Rezaie. Also, it is conjectured that S+ n minimizes f(G) = e(G) − q1(G) − q2(G) among all graphs G on n vertices.

Espionage against Poland in the Documents and Analyses of the Polish Special Services (1944 - 1989) - as Illustrated by the Intelligence Activities of the USA

The text analyses the intelligence activity against Poland in the period 1944-1989. The paper also contains a case study, i.e. an analysis of the American intelligence service activity held against Poland. While examining the research thesis, the author used the documents and analyses prepared by the Ministry of Internal Affairs. In order to best illustrate the point, the author presented a number of cases of persons who spied for the USA, which was possible thanks to the analysis of the training materials of the Ministry of Internal Affairs directed to the officers of the Security Service and the Citizens’ Militia. The text tackles the following issues: (1) to what extent did the character of the socio-political system influence the number of persons convicted for espionage against Poland in the period under examination?, (2) what was the level of interest of the foreign intelligence services in Poland before the year 1990?, (3) is it possible to indicate the specificity of the U.S. intelligence activity against Poland? 1) The analysis of data indicates that the period 1946-1956 witnessed a great number of convictions for espionage, which is often associated with the peculiar political situation in Poland of that time. Up to 1953, the countries of the Eastern bloc had reproduced the Stalin’s system, which only ceased due to the death of Stalin himself. Since then, the communist systems gradually transformed into the system of nomenklatura. Irrespective of these changes, Poland still witnessed a wave of repressions, which resulted from the threats continuously looming over the communist authorities – combating the anti-communist underground movement, fighting with the Ukrainian Insurgent Army, the Polish government-in-exile, possible revisionism of borders, social discontent related to the socio-political reforms. Hence, a great number of convictions for espionage at that time could be ascribed to purely political sentences. Moreover, equally significant was the fact that the then judicial practice was preoccupied assessing negatively any contacts and relations with foreigners. This excessive number of convictions could ensue from other criminal-law provisions, which applied with respect to the crimes against the State, including espionage. What is also important is the fact that in the Stalin’s period the judiciary personnel acquired their skills and qualifications through intensive courses in law with the predominant spirit of the theory of evidence and law by Andrey Vyshinsky. Additionally, by the decree of 1944 the Penal Code of the Polish Armed Forces was introduced; the code envisaged the increase in the number of offences classified as penalised with death penalty, whereas the high treason was subject to the military jurisdiction (the civilians were prosecuted in military courts till 1955; the espionage, however, still stood under the military jurisdiction). In 1946, there was introduced the Decree on particularly dangerous crimes in the period of the State’s recovery, which was later called a Small Penal Code. 2) The interest that foreign intelligence services expressed in relation to Poland was similar to the one they had in all countries of Eastern and Central Europe. In the case of Poland, it should be noted that foreign intelligence services recruited Polish citizens who had previously stayed abroad and after WWII returned to their home country. The services also gathered information from Poles staying in immigrant camps (e.g. in FRG). The activity of the American intelligence service on the territory of FRG and West Berlin played a key role. The documents of the Ministry of Internal Affairs pointed to the global range of this activity, e.g. through the recruitment of Polish sailors in the ports of the Netherlands, Japan, etc. In line with the development in the 1970s, espionage, which had so far concentrated on the defence and strategic sectors, became focused on science and technology of the People’s Republic of Poland. The acquisition of collaborators in academic circles was much easier, as PRL opened to academic exchange. Due to the system of visas, the process of candidate selection for intelligence services (e.g. the American) began in embassies. In the 1980s, the activity of the foreign intelligence services concentrated on the specific political situation in Poland, i.e. the growing significance of the “Solidarity” social movement. 3) The specificity of the American intelligence activity against Poland was related to the composition of the residency staff, which was the largest in comparison to other Western countries. The wide range of these activities can be proved by the quantitative data of convictions for espionage in the years 1944-1984 (however, one has to bear in mind the factors mentioned earlier in the text, which led to the misinterpretation of these data). Analysing the data and the documents prepared by the Ministry of Internal Affairs, one should treat them with caution, as, frequently, the Polish counter-intelligence service used to classify the ordinary diplomatic practice and any contacts with foreigners as espionage threats. It is clearly visible in the language of the training materials concerned with “secret service methods of the intelligence activity” as well as in the documents on operational activities of the Security Service in relation to foreigners. The level of interest the USA had in Poland was mirrored in the classification of diplomatic posts, according to which Warsaw occupied the second place (the so-called Group “B”) on the three-point scale. The CIA experienced spectacular defeats during their activity in Poland: supporting the Polish underground anti-communist organisation Freedom and Independence and the so-called Munich-Berg episode (both cases took place in the 1950s). The text focuses only on selected issues related to the espionage activities against Poland. Similarly, the analysis of the problem has been based on selected sources, which has limited the research scope - however, it was not the aim of the author to present the espionage activity against Poland in a comprehensive way. In order to assess the real threat posed by the espionage activity, one should analyse the case of persons convicted for espionage in the period 1944-1989, as the available quantitative data, mentioned in the text, cannot constitute an explicit benchmark for the scale of espionage activity. The inaccuracies in the interpretation of data and variables, which can affect the evaluation of this phenomenon, have been pointed out in the text.

Análisis de la ejecución presupuestaria en el gobierno autónomo descentralizado de la parroquia Checa en el período 2013

La presente Tesis se basa en el Análisis de la Ejecución presupuestaria del Gobierno Autónomo Descentralizado de la Parroquia Checa en el periodo 2013, para establecer si el presupuesto fue ejecutado de acuerdo al Plan Operativo Anual y se cumplió con los objetivos y metas propuestas en este año. En el Capítulo 1 se estudia al Gobierno Autónomo Descentralizado de la Parroquia Checa su misión, visión, funciones, competencias, estructura orgánica y funcional, reglamento interno de la junta Parroquial. En el Capítulo 2 se hemos recolecta información conceptual para esta investigación sobre el presupuesto, principios presupuestarios y el ciclo presupuestario además de información basada en leyes como el Código Orgánico de Organización Territorial, Autonomía y Descentralización, La Constitución de la República, Normativa de Presupuesto, Tesorería. En el Capítulo 3 se realiza la aplicación práctica mediante indicadores de calidad y de Gestión Financiera de cada una de las partidas presupuestarias de ingresos y gastos establecidas en la ejecución Presupuestaria en el año 2013 y su respectivo análisis. En el Capítulo 4 tenemos las Conclusiones y Recomendaciones emitidas al Gobierno Autónomo Descentralizado de la Parroquia Checa sobre la gestión realizada después de haber aplicado los indicadores de calidad y de Gestión Financiera.

Deficiência mental e sexualidade: Perspectivas e atitudes num centro ocupacional e de formação e inserção profissional

Dissertação de Mestrado apresentada ao Instituto Superior de Psicologia Aplicada para obtenção de grau de Mestre na especialidade de Psicologia Clínica.

Harmonised framework for ecological risk assessment of sediments from ports and estuarine zones of North and South Atlantic

This paper presents a harmonised framework of sediment quality assessment and dredging material characterisation for estuaries and port zones of North and South Atlantic. This framework, based on the weight-of-evidence approach, provides a structure and a process for conducting sediment/dredging material assessment that leads to a decision. The main structure consists of step 1 (examination of available data); step 2 (chemical characterisation and toxicity assessment); decision 1 (any chemical level higher than reference values? are sediments toxic?); step 3 (assessment of benthic community structure); step 4 (integration of the results); decision 2 (are sediments toxic or benthic community impaired?); step 5 (construction of the decision matrix) and decision 3 (is there environmental risk?). The sequence of assessments may be interrupted when the information obtained is judged to be sufficient for a correct characterisation of the risk posed by the sediments/dredging material. This framework brought novel features compared to other sediment/dredging material risk assessment frameworks: data integration through multivariate analysis allows the identification of which samples are toxic and/or related to impaired benthic communities; it also discriminates the chemicals responsible for negative biological effects; and the framework dispenses the use of a reference area. We demonstrated the successful application of this framework in different port and estuarine zones of the North (Gulf of Cadiz) and South Atlantic (Santos and Paranagua Estuarine Systems).

Bioprospection of Petit Verdot grape pomace as a source of anti-inflammatory compounds.

The aim of this study was to evaluate the anti-inflammatory activity of Petit Verdot Extract and hexane, chloroform and ethyl acetate fractions obtained from grape pomace, in addition to identifying active compounds. The PVE and EAF reduced significantly paw edema and neutrophil migration when compared with control groups. The PVE reduced levels of TNF-α and IL1-β in the peritoneal fluid, whereas the EAF did not reduce cytokines significantly. Two hydroxybenzoic acids, two proanthocyanidins, three flavan-3-ol monomers and three anthocyanins were identified in the PVE and EAF by LC-MS/MS. The stilbene transresveratrol was identified only in the EAF. The phenolic compounds were quantified using HPLC-DAD analysis, except for the stilbenes, which were not sensible for the detection by the method. Since PVE and EAF showed significantly anti-inflammatory effects and high concentration of phenolic compounds, we concluded that Petit Verdot pomace could be an interesting source of anti-inflammatory bioactives.

RGS14 (414)-mediated prevention of an episodic memory loss: a study of molecular mechanism

A large proportion of human populations suffer memory impairments either caused by normal aging or afflicted by diverse neurological and neurodegenerative diseases. Memory enhancers and other drugs tested so far against memory loss have failed to produce therapeutic efficacy in clinical trials and thus, there is a need to find remedy for this mental disorder. In search for cure of memory loss, our laboratory discovered a robust memory enhancer called RGS14(414). A treatment in brain with its gene produces an enduring effect on memory that lasts for lifetime of rats. Therefore, current thesis work was designed to investigate whether RGS14(414) treatment can prevent memory loss and furthermore, explore through biological processes responsible for RGS-mediated memory enhancement. We found that RGS14(414) gene treatment prevented episodic memory loss in rodent models of normal aging and Alzheimer´s disease. A memory loss was observed in normal rats at 18 months of age; however, when they were treated with RGS14(414) gene at 3 months of age, they abrogated this deficit and their memory remained intact till the age of 22 months. In addition to normal aging rats, effect of memory enhancer treatment in mice model of Alzheimer´s disease (AD-mice) produced a similar effect. AD-mice subjected to treatment with RGS14(414) gene at the age of 2 months, a period when memory was intact, showed not only a prevention in memory loss observed at 4 months of age but also they were able to maintain normal memory after 6 months of the treatment. We posit that long-lasting effect on memory enhancement and prevention of memory loss mediated through RGS14(414) might be due to a permanent structural change caused by a surge in neuronal connections and enhanced neuronal remodeling, key processes for long-term memory formation. A neuronal arborization analysis of both pyramidal and non-pyramidal neurons in brain of RGS14(414)-treated rats exhibited robust rise in neurites outgrowth of both kind of cells, and an increment in number of branching from the apical dendrite of pyramidal neurons, reaching to almost three times of the control animals. To further understand of underlying mechanism by which RGS14(414) induces neuronal arborization, we investigated into neurotrophic factors. We observed that RGS14 treatment induces a selective increase in BDNF. Role of BDNF in neuronal arborization, as well as its implication in learning and memory processes is well described. In addition, our results showing a dynamic expression pattern of BDNF during ORM processing that overlapped with memory consolidation further support the idea of the implication of this neurotrophin in formation of long-term memory in RGS-animals. On the other hand, in studies of expression profiling of RGS-treated animals, we have demonstrated that 14-3-3ζ protein displays a coherent relationship to RGS-mediated ORM enhancement. Recent studies have demonstrated that the interaction of receptor for activated protein kinase 1 (RACK1) with 14-3-3ζ is essential for its nuclear translocation, where RACK1-14-3-3ζ complex binds at promotor IV region of BDNF and promotes an increase in BDNF gene transcription. These observations suggest that 14-3-3ζ might regulate the elevated level of BDNF seen in RGS14(414) gene treated animals. Therefore, it seems that RGS-mediated surge in 14-3-3ζ causes elevated BDNF synthesis needed for neuronal arborization and enhanced ORM. The prevention of memory loss might be mediated through a restoration in BDNF and 14-3-3ζ protein levels, which are significantly decreased in aging and Alzheimer’s disease. Additionally, our results demonstrate that RGS14(414) treatment could be a viable strategy against episodic memory loss.

The generating function of the generalized Fibonacci sequence

Using tools of the theory of orthogonal polynomials we obtain the generating function of the generalized Fibonacci sequence established by Petronilho for a sequence of real or complex numbers {Qn} defined by Q0 = 0, Q1 = 1, Qm = ajQm−1 + bjQm−2, m ≡ j (mod k), where k ≥ 3 is a fixed integer, and a0, a1, . . . , ak−1, b0, b1, . . . , bk−1 are 2k given real or complex numbers, with bj #0 for 0 ≤ j ≤ k−1. For this sequence some convergence proprieties are obtained.

Förändringar i informationshanteringen med användandet av molntjänster : Förändringsanalys hos ett företag inom retailbranschen

Den här studien, som har bedrivits i samarbete med konsultföretaget Pipe, har studerat informationshanteringsprocessen hos småföretag inom retailbranschen. Företaget som ägnar sig åt butiksplanering med hjälp av CAD-program har idag ingen koppling mellan CAD-programmet och den molndatabas som lagrar information. Syftet med arbetet är att beskriva hur ett åtgärdsförslag skulle kunna se ut för att företaget ska kunna förbättra sin informationshantering genom användandet utav en molndatabas. Vi har även beskrivit problemområdet kring kopplingar mellanmolndatabaser och designprogram. För att besvara studiens syfte har vi genomfört en fallstudie, och svaret på forskningsfrågorna, 1. Hur ser informationshanteringsprocessen ut idag? 2. Hur kan informationshanteringsprocessen förbättras? 2. Vilka arbetssteg skulle kunna tas bort om företaget inför en koppling mellanmolndatabasen och designprogrammet? 3. Är en molnbaserad lösning ett möjligt alternativ för att använda för småföretag i retailbranschen? 4. Hur ser det ut i andra branscher som använder sig av CAD-program? Har vi hittat genom att genomföra intervjuer. Intervjuerna har hjälpt oss att genomföra en förändringsanalys där vi genom handlingsgrafer och mål- och problemlistor har kommit fram till ett antal åtgärdsförslag som företaget bör genomföra för att förbättra sin informationshanteringsprocess. Utifrån förändringsanalysen har vi kunnat dra slutsatsen att informationshanteringsprocessen skulle kunna förbättras och snabbas upp genom att införa en koppling mellan designprogrammet och en molndatabas. Detta skulle innebära att material automatiskt laddas upp från designprogrammet tillmolndatabasen, som även kunden har tillgång till. På så sätt samlas all information på ett och samma ställe. Genom litteraturstudier har vi också kommit fram till att en molnbaserad lösning vore möjligt för företaget, då det är en billig och smidig lösning för företag som inte har så stora resurser.

Scaling laws and thermodynamic analysis for vascular branching of microvessels

When blood flows through small vessels, the two-phase nature of blood as a suspension of red cells (erythrocytes) in plasma cannot be neglected, and with decreasing vessel size, a homogeneous continuum model become less adequate in describing blood flow. Following the Haynes’ marginal zone theory, and viewing the flow as the result of concentric laminae of fluid moving axially, the present work provides models for fluid flow in dichotomous branching composed by larger and smaller vessels, respectively. Expressions for the branching sizes of parent and daughter vessels, that provides easier flow access, are obtained by means of a constrained optimization approach using the Lagrange multipliers. This study shows that when blood behaves as a Newtonian fluid, Hess – Murray law that states that the daughters-to-parent diameter ratio must equal to 2^(-1/3) is valid. However, when the nature of blood as a suspension becomes important, the expression for optimum branching diameters of vessels is dependent on the separation phase lengths. It is also shown that the same effect occurs for the relative lengths of daughters and parent vessels. For smaller vessels (e. g., arterioles and capillaries), it is found that the daughters-to-parent diameter ratio may varies from 0,741 to 0,849, and the daughters-to-parent length ratio varies from 0,260 to 2,42. For larger vessels (e. g., arteries), the daughters-to-parent diameter ratio and the daughters-to-parent length ratio range from 0,458 to 0,819, and from 0,100 to 6,27, respectively. In this paper, it is also demonstrated that the entropy generated when blood behaves as a single phase fluid (i. e., continuum viscous fluid) is greater than the entropy generated when the nature of blood as a suspension becomes important. Another important finding is that the manifestation of the particulate nature of blood in small vessels reduces entropy generation due to fluid friction, thereby maintaining the flow through dichotomous branching vessels at a relatively lower cost.

The Virome of two Fusarium spp. Collections and its Potential for Controlling Fusarium Disease

This research aims to discover the virome diversity and composition in Fusarium poae and Fusarium proliferatum collections, characterize the mycovirus that may have an effect on host pathogenicity to provide potential materials for the biological control of Fusarium spp. pathogens. Next-Generation Sequencing (NGS) analysis of 30 F. poae isolates revealed an extreme diversity of mycoviruses. Bioinformatic analysis shows that contigs associated with viral genome belong to the families: Hypoviridae, Mitoviridae, Partitiviridae, Polymycoviridae, proposed Alternaviridae, proposed Fusagraviridae, proposed Fusariviridae, proposed Yadokariviridae, and Totiviridae. The complete genomes of 12 viruses were obtained by assembling contigs and overlapping cloning sequences. Moreover, all the F. poae isolates analyzed are multi-infected. Fusarium poae partitivirus 1 appears in all the 30 strains, followed by Fusarium poae fusagravirus 1 (22), Fusarium poae mitovirus 2 (18), Fusarium poae partitivirus 3 (16), and Fusarium poae mitovirus 2 and 3 (11). Using the same approach, the virome of F. proliferatum collections resulted in lower diversity and abundance. The identified mycoviruses belong to the family Mitoviridae and Mymonaviridae. Interestingly, most F. proliferatum isolates are not multi-infected. The complete genomes of four viruses were obtained by assembling contigs and overlapping cloning sequences. By multiple liner regression of the virome composition and growth rate of 30 F. poae, Fusarium poae mitovirus 3 is significantly correlated with the growth rate among F. poae collection. Furthermore, the principal component analysis of the virome composition from 30 F. poae showed that the presence of Fusarium poae mitovirus 3 and other two viruses could increase the F. poae growth rate. The curing experiment and pathogenicity test in Petri indicated that Fusarium poae hypovirus 1 might be associated with the host hypovirulence phenotype, while Fusarium poae fusagravirus 1 and Fusarium poae partitivirus 3 may have some beneficial effect on host pathogenicity.

From trust who to trust what. A fresh perspective on trust in the era of blockchain

In the last few years, a remarkable technological revolution has been taking place around the world. Such a technological revolution is not just a means to the end of improving efficiency, but an important end of social order. In this work, I show that blockchain is one important example. I discuss that the success of a disintermediated transaction is conditioned on the level of trust in the rules-of-code. In what follows, the dissertation is organized in three studies. Study 1 is a theoretical paper where I present and discuss a model of how blockchain-like technologies can automate and algorithmically dictate the nurturing of trust. Based on study 1, study 2 is aimed to develop and validate a quantitative scale to measure each component of the proposed trust model. Lastly, study 3 is intended to investigate how telematic equipment can affect individual trusting behavior under condition of information asymmetry. The introduction of black box in the Italian automobile insurance market is the set of this study. Overall, the dissertation offers some major contributions for theory and practice about the dynamics underlying the development of trust in the rising era of blockchain transactions.

Frequency Of The Allelic Variant C.1150t > C In Exon 10 Of The Fibroblast Growth Factor Receptor 3 (fgfr3) Gene Is Not Increased In Patients With Pathogenic Mutations And Related Chondrodysplasia Phenotypes.

Mutations in the FGFR3 gene cause the phenotypic spectrum of FGFR3 chondrodysplasias ranging from lethal forms to the milder phenotype seen in hypochondroplasia (Hch). The p.N540K mutation in the FGFR3 gene occurs in ∼70% of individuals with Hch, and nearly 30% of individuals with the Hch phenotype have no mutations in the FGFR3, which suggests genetic heterogeneity. The identification of a severe case of Hch associated with the typical mutation c.1620C > A and the occurrence of a c.1150T > C change that resulted in a p.F384L in exon 10, together with the suspicion that this second change could be a modulator of the phenotype, prompted us to investigate this hypothesis in a cohort of patients. An analysis of 48 patients with FGFR3 chondrodysplasia phenotypes and 330 healthy (control) individuals revealed no significant difference in the frequency of the C allele at the c.1150 position (p = 0.34). One patient carrying the combination `pathogenic mutation plus the allelic variant c.1150T > C' had a typical achondroplasia (Ach) phenotype. In addition, three other patients with atypical phenotypes showed no association with the allelic variant. Together, these results do not support the hypothesis of a modulatory role for the c.1150T > C change in the FGFR3 gene.