[EN] A rational and correct usage of available water resources in irrigation entails access to infrastructures that utilise pressurised pipelines to carry the required volumes of water from the catchment to the plant. The pressurised irrigation systems, whether at collective or smallholding level, permit a high degree of control over the water applied, and guarantee a high rate of application efficiency. Over the last 30 years, the adoption of these irrigation systems have led to the construction and start-up of numerous collective pressurised irrigation networks. In the Mediterranean region, where the production model is based on the intensive farming of small and medium-sized plots of land (areas not exceeding 0.5 hectares), the water distribution systems from the network to the allotment is normally via so-called multi-user hydrants. These devices have unique features that make them difficult to characterise and model. Traditionally their design and configuration has been the responsibility of the engineering design team who use their own experience as a criterion of design, disregarding the fact in many cases, of how the design and configuration affects the hydraulic response of these devices as well as the influence this will have on the infrastructure works connected downstream from these devices. This thesis deals with the study of these multi-user hydrants. Firstly it analyses their current state of operation, compiling the problems encountered at present, highlighting the metrological blocking of meters, corrosion, leaks, excessive load losses, unsuitable materials and equipment, etc. Problems that impair the equipment and make it impossible for them to perform the functions for which they were installed. Secondly, an attempt to organise the devices based on their configuration is done, classifying them according to the position of the water meter, in horizontal and vertical. Analyses of the regulations that define the characteristics of the hydrants (UNE-EN14267) is carried out, demonstrating that it is insufficient for these types of elements. Therefore, through the experience gained in the LHIR of UPV (The Hydraulics and Irrigation Laboratory of the Politechnic University of Valencia), and from the hydraulic trials of 13 of these devices, we propose tests of hydraulic characterisation that allow us to assess the correct configuration and operation of the aforementioned devices, analysing and proposing solutions for the main problem that was encountered - the blocking of metrological meters. Thirdly, once the situation of the multi-user hydrants is analysed, and after the problems encountered in the field and laboratory are compiled, a design protocol is developed that culminates in a draft of the Technical Specifications of the types of devices. The application of this draft with the collaboration of SEIASA (Spanish Society of Agricultural Infrastructures) leads to the development of a hydrant configuration type called "Costella", where the main challenges that were encountered ultimately are solved. This part of the thesis ends with validation through hydraulic tests in the laboratory (LHIR), of three hydrants with this configuration. The fourth and last part of the thesis proposes a method of analysis, based on the EPANET 2.0 application, which makes it possible to verify and configure this type of hydrant validating its operation before its installation in the network. Utilising all the experimental framework a model has been constructed using Computational Fluid Dynamics (CFD) from the collectors of the trialed hydrants. In paralllel every type of hydrant has been characterised by means of EPANET adjusting the resitance coefficients of the different unique components that constitute each hydrant. These CFD models have made it possible to validate the models in EPANET that simulate with great precision the real response of the collectors and therefore apply to the simulation of the whole hydrant. / [ES] Un aprovechamiento racional y ajustado de los recursos hídricos disponibles en el regadío implica la necesidad de disponer de infraestructuras que mediante conducciones a presión permitan llevar desde captación hasta la planta los volúmenes requeridos. Los sistemas de riego a presión, tanto a nivel colectivo como en parcela, permiten un alto control sobre el agua aplicada y garantizan una alta eficiencia de aplicación. La adopción de estos sistemas de riego ha conllevado en los últimos 30 años la construcción y puesta en marcha de numerosas redes colectivas de riego a presión. En el arco mediterráneo donde el modelo productivo se basa en una agricultura intensiva de parcelas de tamaño pequeño y medio (superficies medias no superiores a 0,5 ha), el sistema de distribución del agua desde la red a la parcela se realiza normalmente a través de hidrantes denominados multiusuario. Estos dispositivos presentan unas características singulares que los hacen difíciles de caracterizar y modelizar. Tradicionalmente su diseño y configuración ha corrido a cargo de los ingenieros proyectistas utilizando la propia experiencia como criterio de diseño, desconociendo, en muchos casos, cómo afecta el diseño y configuración a la respuesta hidráulica de estos dispositivos, y la influencia que éstos tendrán en las obras de infraestructura conectadas aguas abajo de los mismos. Esta Tesis aborda el estudio de estos hidrantes multiusuario. En primer lugar analizando su estado actual de funcionamiento, recopilando los problemas que se encuentran en la actualidad, resaltando el bloqueo metrológico de contadores, oxidaciones, fugas, pérdidas de carga excesivas, materiales y equipos no adecuados, etc. Problemas que deterioran estos equipos e imposibilitan que realicen las funciones para los que fueron instalados. En segundo lugar se intenta organizar, los dispositivos en función de su configuración, clasificándolos según la posición del contador de agua, en horizontales y verticales. Se analiza la normativa que define las características de los hidrantes (UNE-EN 14267), demostrando que es insuficiente para este tipo de elementos. Por lo que a través de la experiencia recogida en el LHIR (Laboratorio de Hidráulica y Riegos) de la UPV, y del ensayo hidráulico de 13 de estos dispositivos, se proponen ensayos de caracterización hidráulica que permitan evaluar la correcta configuración y funcionamiento de los mismos, analizando y proponiendo soluciones al principal problema encontrado, el bloqueo metrológico de contadores. Una vez analizada la situación de estos hidrantes multiusuario, y tras la recopilación de los problemas encontrados en campo y en laboratorio, se desarrolla un protocolo de diseño que culmina con la redacción de un Pliego de Condiciones Técnicas para este tipo de dispositivos. La aplicación de este pliego junto con la colaboración de SEIASA (Sociedad Española de Infraestructuras Agrarias) desemboca en el desarrollo de una configuración de hidrante tipo denominado "Costella", donde se solucionan los principales problemas planteados. Esta parte finaliza con la validación a través de ensayos hidráulicos en el laboratorio (LHIR), de tres hidrantes con esta configuración.La cuarta y última parte propone un método de análisis, basado en la aplicación EPANET, que permita verificar y realizar configuraciones de este tipo de hidrantes validando su funcionamiento antes de su instalación en la red. Utilizando toda la base experimental se ha construido un modelo mediante Técnicas Computacionales de Fluidos (CFD) de los colectores de los hidrantes ensayados. Paralelamente se ha caracterizado cada tipo de hidrante mediante EPANET ajustando los coeficientes de resistencia de los diferentes elementos singulares que configuran cada hidrates. Estos modelos CFD han permitido validar los modelos en EPANET que simulen con gran precisión la respuesta real de los colectores y por tanto aplicarlos a la s / [CA] Un aprofitament racional i ajustat dels recursos hídrics disponibles en el regadiu implica la necessitat de disposar d'infraestructures que, mitjançant conduccions a pressió, permeten portar els volums requerits des de la captació fins a la planta. Els sistemes de reg a pressió, tant en l'àmbit col·lectiu com en parcel·les, permeten un alt control sobre l'aigua aplicada i garanteixen una alta eficiència d'aplicació. L'adopció d'aquests sistemes de reg ha comportat en els últims trenta anys la implantació de nombroses xarxes col·lectives de reg a pressió. En l'arc mediterrani, on el model productiu es basa en una agricultura intensiva de parcel·les de dimensions petites i mitjanes (superfícies mitjanes no superiors a 0,5 ha), el sistema de distribució de l'aigua des de la xarxa fins a la parcel·la es du a terme normalment a través de hidrant denominades multiusuari. Aquests dispositius presenten unes característiques singulars que els fan difícils de caracteritzar i modelitzar. Tradicionalment, el disseny i la configuració han anant a càrrec dels enginyers projectistes utilitzant la pròpia experiència com a dissenyadors, i desconeixent, en molts casos, com afecta el disseny i la configuració a la resposta hidràulica d'aquests dispositius, i la influència que aquests tindran en les obres d'infraestructura connectades aigües avall. Aquesta tesi aborda l'estudi d'aquestes hidrants multiusuari. En primer lloc, analitzant-ne l'estat actual de funcionament, recopilant els problemes que hi ha en l'actualitat, ressaltant el bloqueig metrològic de comptadors, oxidacions, fuites, pèrdues de càrrega excessives, materials i equips no adequats, etc. Problemes que deterioren aquests equips i impossibiliten que duguen a terme les funcions per a les quals van ser instal·lats. En segon lloc, s'intenta organitzar els dispositius en funció de la configuració, i així es classifiquen, segons la posició del comptador d'aigua, en horitzontals i verticals. S'analitza la normativa que defineix les característiques de les hidrants (UNE-EN 14267), i es demostra que és insuficient per a aquesta classe d'elements. Per això, a través de l'experiència arreplegada en el LHIR (Laboratori d'Hidràulica i Regs) de la UPV, i de l'assaig hidràulic de 13 d'aquests dispositius, es proposen assajos de caracterització hidràulica que permeten avaluar-ne la configuració i el funcionament correctes, s'analitza el bloqueig metrològic de comptadors i es proposen solucions a aquest problema, que és el principal problema detectat. Una vegada analitzada la situació d'aquestes hidrants multiusuari de reg, i després de la recopilació dels problemes trobats en camp i en laboratori, es desenvolupa un protocol de disseny que culmina amb la redacció d'un plec de condicions tècniques per a aquest tipus de dispositius. L'aplicació d'aquest plec juntament amb la col·laboració de SEIASA (Societat Espanyola d'Infraestructures Agràries) desemboca en el desenvolupament d'una configuració de hidrant tipus denominat "Costella", en què se solucionen els principals problemes plantejats. Aquesta part finalitza amb la validació, a través d'assajos hidràulics en el laboratori (LHIR), de tres hidrants amb aquesta configuració. La quarta i última part proposa un mètode d'anàlisi, basat en l'aplicació EPANET 2.0, que permeta verificar i fer configuracions d'aquest de tipus hidrants validant-ne el funcionament abans d'instal·lar-los en la xarxa. Utilitzant tota la base experimental, s'ha construït un model mitjançant tècniques computacionals de fluids (CFD) dels col·lectors de les hidrants assajades. Paral·lelament, s'ha caracteritzat cada tipus d'hidrant mitjançant EPANET ajustant els coeficients de resistència dels diversos elements singulars que configuren cada hidrant. Aquests models CFD han permès validar els models en EPANET que simulen amb gran precisió la resposta real dels col·lectors y per tant aplicar-los a la / Balbastre Peralta, I. (2016). Análisis, caracterización y diseño de Hidrantes multiusuario para riego [Tesis doctoral]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/62214

Soil hydraulic properties, such as saturated hydraulic conductivity (Ks), have high spatial variation, but little is known about how to vary a few measurements of Ks over an area to model hydrology in a watershed with complex topography and multiple land uses. Variations in soil structure, macropores (especially in soil that shrink and swell), land use, and soil development can cause large variations in Ks within one soil type. Characterizing the impacts of soil properties that might vary systematically with land use and terrain attributes on Ks rates would provide insight on how management and human activity affect local and regional hydrology. The overall objective of this research was to develop a strategy for using published infiltration and Ks measurements by the Natural Resources Conservation Service for watershed hydrology applications in a Vertisol, and to extend this knowledge toward developing recommendations for future infiltration measurements. To achieve this goal, soil infiltration measurements were collected across three catenas of Houston Black and Heiden clays (fine, smectitic, thermic Udic Haplusterts) under three land uses (improved pasture, native prairie, and conventional tillage row crop). Measurement locations were selected to account for variation in terrain attributes. Overall, Ks values were not significantly different across different landscape positions; however, in fields under similar land uses, Ks values were found to be lower in the footslope positions and higher in the backslope positions. The pedotransfer function, ROSETTA, provided estimates of 64 percent of the overall variability in Ks while also providing accurate estimates of the mean of Ks when particle size distribution and bulk density are used as inputs in the model. Through the use of multiple regression analysis, soil antecedent water content, bulk density, clay content, and soil organic carbon along with two indicator variables for the catenas were highly correlated (r2 = 0.59) with Ks. The indicator variables explained 17 percent of the variation in Ks that could not be explained by measured soil properties. It is recommended that when NRCS measures Ks on benchmark soils, especially high clay soils, that they collect particle size distribution, bulk density, organic carbon, and antecedent water content data.

Εισαγωγή: Το σύνδρομο της μεμονωμένης ανεπάρκειας της εκλυτικής ορμόνης των γοναδοτροπινών (IGD) χαρακτηρίζεται από μεμονωμένη λειτουργική ανεπάρκεια της υποθαλαμικής παραγωγής ή/και έκκρισης της GnRH οδηγώντας σε μεμονωμένη ανεπάρκεια των γοναδοτροπινών με φυσιολογική λειτουργικότητα των υπολοίπων υποφυσιακών ορμονών. Η συνύπαρξη IGD και ανοσμίας αναφέρεται ως σύνδρομο Kallmann (ΣΚ), ενώ η απουσία οσφρητικής διαταραχής αναφέρεται ως ιδιοπαθής υπογοναδοτροφικός υπογοναδισμός (ΙΥΥ). Σκοπός: Σκοπός της μελέτης είναι η περιγραφή των φαινοτυπικών χαρακτηριστικών ασθενών με μεμονωμένη ανεπάρκεια GnRH (ΙΥΥ και ΣΚ), η διερεύνηση της ύπαρξης μεταλλάξεων στα γονίδια KAL1, FGFR1 (υποδοχέας του αυξητικού παράγοντα των ινοβλαστών 1), PROK2 (προκινετισίνη 2), PROKR2 (υποδοχέας της προκινετισίνης 2) και GPR54 (KISS1R: υποδοχέας της κισσπεπτίνης) στους ασθενείς αυτούς, καθώς και η συσχέτιση μεταξύ του γονότυπου των ασθενών και ειδικών κλινικών φαινοτύπων. Επίσης διερευνείται η παρουσία μεταλλάξεων στο γονίδιο KAL1 σε ομάδα φαινομενικά υγιών παιδιών με ετερόπλευρη αγενεσία/δυσγενεσία νεφρού (ΕΝΑ), σε μια προσπάθεια καθορισμού της συχνότητας των μεταλλάξεων του γονιδίου KAL1 στην ΕΝΑ. Τέλος πραγματοποιείται in-vitro λειτουργικός έλεγχος δύο σημειακών μεταλλάξεων του γονιδίου FGFR1 που επηρεάζουν το ίδιο αμινοξύ της πρωτεΐνης (R254W και R254Q), με στόχο τη συσχέτιση των in-vitro ευρημάτων με τον κλινικό φαινότυπο των ασθενών. Ασθενείς: Μελετήθηκαν συνολικά εξήντα έξι (66) ασθενείς με μεμονωμένη ανεπάρκεια GnRH (26 με ΣΚ και 40 με ΙΥΥ), στους οποίους πραγματοποιήθηκε μοριακός έλεγχος των γονιδίων KAL1, FGFR1, PROK2, PROKR2 και GPR54. Επίσης μελετήθηκαν 13 παιδιά (ηλικίας κάτω των 15 ετών) στα οποία υπήρχε απεικονιστικά επιβεβαιωμένη συγγενής ετερόπλευρη νεφρική αγενεσία/δυσγενεσία, η οποία δεν παρατηρήθηκε στα πλαίσια γνωστού συνδρόμου και τα οποία ελέχθησαν για την παρουσία μεταλλάξεων στο γονίδιο KAL1. Μέθοδοι: Η μεθοδολογία του μοριακού γονιδιακού ελέγχου περιλάμβανε την απομόνωση DNA γονιδιώματος από δείγμα ολικού αίματος, τον εκλεκτικό πολλαπλασιασμό των εξονίων των υπό μελέτη γονιδίων με την αλυσιδωτή αντίδραση της πολυμεράσης (PCR amplification) και τον προσδιορισμό της αλληλουχίας του DNA στα προϊόντα της PCR (DNA sequencing). Ο in-vitro λειτουργικός έλεγχος των δύο μεταλλαγμένων μορφών του υποδοχέα FGFR1 (R254W και R254Q) περιλάμβανε την μελέτη της σηματοδοτικής δραστηριότητας του υποδοχέα κατόπιν διέγερσής του από τον προσδέτη FGF2, καθώς και τον προσδιορισμό των επιπέδων έκφρασης των μεταλλαγμένων μορφών του υποδοχέα FGFR1, τα οποία συγκρίθηκαν με τα αντίστοιχα του φυσιολογικού υποδοχέα (WT=wild type). Η μετάδοση σήματος του υποδοχέα FGFR1 αξιολογήθηκε με την τεχνική ανίχνευσης δραστηριότητας του γονιδίου αναφοράς της λουσιφεράσης. Η μέτρηση των επιπέδων της ολικής έκφρασης του FGFR1 πραγματοποιήθηκε με την τεχνική της ανάλυσης πρωτεϊνών με ηλεκτροφόρηση σε πήκτωμα πολυακριλαμιδίου, ακολουθούμενη από την τεχνική της ανάλυσης κατά Western. Η εκτίμηση της ενδοκυττάριας ωρίμανσης του πρωτεϊνικού μορίου του υποδοχέα FGFR1 έγινε μέσω ενζυμικής πέψης της γλυκοπρωτεΐνης με ενδογλυκοσιδάσες, ενώ ο υπολογισμός των επιπέδων έκφρασης του FGFR1 στην κυτταροπλασματική μεμβράνη έγινε με την πρόσδεση ραδιοσημασμένου αντισώματος (radiolabelled antibody binding assay). Αποτελέσματα: Εκ του μοριακού γονιδιακού ελέγχου που πραγματοποιήθηκε στους ασθενείς με IGD εντοπίσθηκαν πέντε διαφορετικές μεταλλάξεις στο γονίδιο KAL1 σε τρεις άρρενες ασθενείς με σύνδρομο Kallmann (Ε514Κ, Α660Τ, Ε37Κ, T235S, έλλειψη εξονίων 5-10), καθώς και μια σημειακή μετάλλαξη στο γονίδιο FGFR1 (R254W) σε έναν άρρενα ασθενή με ιδιοπαθή υπογοναδοτροφικό υπογοναδισμό. Εκ του in-vitro λειτουργικού ελέγχου των δύο σημειακών μεταλλάξεων του γονιδίου FGFR1 (R254W και R254Q) που μελετήθηκαν, προέκυψε ότι η μέγιστη σηματοδοτική δραστηριότητα για τη μεταλλαγμένη μορφή του υποδοχέα R254W παρουσιάζει μείωση κατά 45% σε σύγκριση με τον wild-type υποδοχέα (p<0.01), ενώ η μέγιστη απάντηση της μεταλλαγμένης μορφής R254Q μειώνεται κατά 15% σε σχέση με το wild-type υποδοχέα, διαφορά που δεν αναδείχθηκε στατιστικά σημαντική. Ωστόσο και οι δυο μεταλλαγμένες μορφές R254W και R254Q εμφανίζουν ελαττωμένα επίπεδα ολικής έκφρασης (40% και 30% μείωση σε σχέση με τον wild-type, αντίστοιχα), ενώ η πρωτεϊνική ωρίμανση δεν φαίνεται να επηρεάζεται. Τέλος η έκφραση των μεταλλαγμένων μορφών R254W και R254Q επί της κυτταρικής επιφάνειας παρουσιάζεται σημαντικά ελαττωμένη (35%, p<0.01 και 15%, p<0.05, αντιστοίχως). Εκ του μοριακού γονιδιακού ελέγχου που πραγματοποιήθηκε στους ασθενείς με ΕΝΑ βρέθηκε μετάλλαξη του KAL1 σε έναν ασθενή 12 ετών, ο οποίος εμφάνιζε συνοδό ανοσμία, συγκινησία άνω άκρων και κρυψορχία. Στον ασθενή αυτόν τέθηκε η γενετική διάγνωση του ΣΚ και αργότερα υποβλήθηκε σε έγκαιρη έναρξη θεραπευτικής αγωγής. Συμπεράσματα: Το ποσοστό των γνωστών μεταλλάξεων που έχουν εντοπισθεί στους ασθενείς με IGD του Ελλαδικού χώρου είναι πολύ μικρό και επομένως παραμένει πρόσφορο το πεδίο για περαιτέρω έρευνα προς την κατεύθυνση της διευκρίνησης της μοριακής αιτιοπαθογένειας της νόσου. Η σύγκριση φαινότυπου-γονότυπου των ασθενών με σύνδρομο Kallmann υποδεικνύει ότι η παρουσία συνοδού ετερόπλευρης αγενεσίας νεφρού αποτελεί ισχυρή ένδειξη για την ύπαρξη μεταλλαγών στο γονίδιο KAL1. Η ανεύρεση μεταλλάξεων του γονιδίου KAL1 σε παιδιά με ΕΝΑ έχει διττή σημασία· αφενός επιβεβαιώνει την εμπλοκή της ανοσμίνης-1 (του προϊόντος του γονιδίου KAL1) στην οργανογένεση του νεφρού και αφετέρου οδηγεί στην πρώιμη διάγνωση του ΣΚ. Ο μοριακός έλεγχος του γονιδίου KAL1 σε παιδιά με ΕΝΑ συστήνεται επί συνύπαρξης και άλλων κλινικών σημείων του ΣΚ (ανοσμία, κινήσεις καθρέπτη, κρυψορχία, μικροφαλλία) ή ανάδειξης οικογενειακού ιστορικού υπογοναδισμού και ανοσμίας. Ο συγκριτικός λειτουργικός έλεγχος δύο μεταλλάξεων του FGFR1 που επηρεάζουν το ίδιο αμινοξύ (R254W, R254Q) αναδεικνύει την απώλεια της λειτουργικότητας των μεταλλαγμένων μορφών του υποδοχέα in-vitro. Αν και από τον in-vitro λειτουργικό έλεγχο προκύπτει ότι η μετάλλαξη R254W είναι πιο σοβαρή από τη μετάλλαξη R254Q, ωστόσο δεν παρατηρείται συσχέτιση του βαθμού της απώλειας της in-vitro λειτουργικότητας των μεταλλαγμένων μορφών του υποδοχέα με τον κλινικό φαινότυπο των ασθενών που φέρουν αυτές τις μεταλλάξεις. / Background: Isolated GnRH deficiency (IGD) is characterized by a functional deficit of GnRH production or secretion in the hypothalamus resulting in the loss of pulsatile secretion of GnRH and in impaired gonadotropin release, in the setting of otherwise normal anterior pituitary anatomy and function and in the absence of secondary causes of hypogonadotropic hypogonadism (HH). Kallmann syndrome (KS) is characterized by the association of IGD and anosmia, whereas patients with normal olfactory function are referred as having normosmic Idiopathic Hypogonadotropic Hypogonadism (nIHH). Objective: The objective of the study was to describe the different patients phenotypes with IGD (KS and nIHH), to identify mutations in the KAL1, FGFR1, PROK2, PROKR2 and GPR54 genes and to correlate specific phenotypes with the patients genotypes. We also studied the presence of KAL1 mutations in young children with unilateral renal agenesis/dysgenesis, in order to determine the incidence of KAL1 gene mutations in this population. In addition, we attempted to define the in vitro functionality of two FGFR1 mutants (R254W and R254Q), resulting from two different amino acid substitutions of the same residue, and to correlate the in vitro findings to the patients phenotypes. Patients: A total of 66 patients with IGD (26 with KS and 40 with nIHH) were included in this study and mutation analysis of KAL1, FGFR1, PROK2, PROKR2 and GPR54 genes was performed for this group of patients. We also studied 13 children (up to the age of 15) with unilateral renal agenesis/dysgenesis, confirmed by imaging studies. Mutation analysis of KAL1 gene was performed for the later group of patients. Methods: Gene mutation analysis methodology included DNA extraction, polymerase chain reaction amplification, and DNA sequence analysis of all exons of the KAL1, FGFR1, PROK2, PROKR2 and GPR54 genes. The in-vitro functional studies of two FGFR1 mutants (R254W and R254Q) included evaluation of the mutant signaling activity and the expression levels, which were compared to the wild type (WT) receptor signaling activity and expression. Signaling activity was determined by a FGF2/FGFR1dependent transcription reporter assay. Receptor total expression levels were assessed by Western blot assay and receptor cell surface expression was measured by radiolabelled antibody binding assay. Results: We identified 5 different mutations in KAL1 gene in three unrelated male patients with KS (Ε514Κ, Α660Τ, Ε37Κ, T235S, deletion of exons 5-10 of KAL1 gene with STS gene deletion) and one point mutation in FGFR1 gene (R254W) in a male patient with nIHH. The in-vitro functional studies of the two FGFR1 mutants (R254W and R254Q) showed that R254W maximal receptor signaling capacity was reduced by 45% (p<0.01), while maximal signaling of R254Q was also reduced (−15%) but the reduction was not statistically significant relative to WT. However, both mutants displayed diminished total protein expression levels (40% and 30% reduction relative to WT, respectively), while protein maturation was unaffected. Accordingly, cell surface expression levels of the mutant receptors were also significantly reduced (35% p<0.01 and 15% p<0.05, respectively). Sequence analysis of KAL1 gene in the group of patients with unilateral renal agenesis/dysgenesis revealed genetic defects in KAL1 gene in a 12 year old child with associated anosmia, bimanual synkinesis of upper limbs and cryptorchidism. The genetic diagnosis of Kallmann syndrome was established in this case, enabling a prompt therapeutic intervention for puberty induction at a later stage. Conclusions: Up to date very few mutations have been described in patients with IGD in the Greek population and the genetic causes of IGD still remains unclear in the majority of cases, pointing out the importance of further studies for determining the molecular pathogenesis of the disease. The phenotype of renal agenesis/dysgenesis strongly indicates the existence of KAL1 gene defects in the genotype of patients with sporadic KS, providing evidence for the X-linked mode of inheritance and offering the opportunity for genetic counseling. The detection of KAL1 gene mutations in children with unilateral renal agenesis (URA) not only confirms the involvement of anosmin-1 (the product of KAL1 gene) in kidney organogenesis, but it can also lead to an early prepubertal diagnosis of KS. Sequence analysis of KAL1 gene in patients with URA is recommended in those cases with associated clinical signs of KS (e.g. anosmia, mirror movements, cryptorchidism, microphallus) or with familial history of hypogonadism or/and anosmia. The comparative functional analysis of two FGFR1 mutations affecting the same residue (R254W, R254Q) in two unrelated patients with IGD showed that both are loss-of-function mutations and that a tryptophan substitution at R254 (R254W) is more disruptive to receptor structure than the more conserved glutamine substitution (R254Q). However, no clear correlation between the severity of in vitro loss-of-function and phenotypic presentation could be assigned.

Karabaglar is a rural area where agricultural community lives and which locates in the vicinity of Mugla town. It was registered as third grade natural site that must be preserved according to its rural character, natural and cultural assets and rural life. Property pattern consisting of private ownerships (yurts), specific road network that emerges from irims and kesiks, traditional houses, variety of vegetation, abundant water, self-sufficient agricultural production, and traditional life style are the main features that create and shape Karabaglar. Kesiks, irims, kabaliks, and yurts are the major man-made components, which are unique to Karabaglar, and these characteristics conform to the natural landscape structure. Urban growth, interventions due to misuse of lands, new housing demands of urban residents in Karabaglar resulted in urban pressure on the area. This situation puts forth the conservation necessity of Karabaglar. This research analyzes the speculative housing development in Karabaglar, identifies the type of interventions and their physical, social, economic and environmental effects on Karabaglar / in addition, develops proposals for sustainability of the traditional pattern of Karabaglar.

Les techniques d'analyse du visage nécessitent généralement une représentation pertinente des images, notamment en passant par des techniques de réduction de la dimension, intégrées dans des schémas plus globaux, et qui visent à capturer les caractéristiques discriminantes des signaux. Dans cette thèse, nous fournissons d'abord une vue générale sur l'état de l'art de ces modèles, puis nous appliquons une nouvelle méthode intégrant une approche non-linéaire, Kernel Similarity Principle Component Analysis (KS-PCA), aux Modèles Actifs d'Apparence (AAMs), pour modéliser l'apparence d'un visage dans des conditions d'illumination variables. L'algorithme proposé améliore notablement les résultats obtenus par l'utilisation d'une transformation PCA linéaire traditionnelle, que ce soit pour la capture des caractéristiques saillantes, produites par les variations d'illumination, ou pour la reconstruction des visages. Nous considérons aussi le problème de la classification automatiquement des poses des visages pour différentes vues et différentes illumination, avec occlusion et bruit. Basé sur les méthodes des représentations parcimonieuses, nous proposons deux cadres d'apprentissage de dictionnaire pour ce problème. Une première méthode vise la classification de poses à l'aide d'une représentation parcimonieuse active (Active Sparse Representation ASRC). En fait, un dictionnaire est construit grâce à un modèle linéaire, l'Incremental Principle Component Analysis (Incremental PCA), qui a tendance à diminuer la redondance intra-classe qui peut affecter la performance de la classification, tout en gardant la redondance inter-classes, qui elle, est critique pour les représentations parcimonieuses. La seconde approche proposée est un modèle des représentations parcimonieuses basé sur le Dictionary-Learning Sparse Representation (DLSR), qui cherche à intégrer la prise en compte du critère de la classification dans le processus d'apprentissage du dictionnaire. Nous faisons appel dans cette partie à l'algorithme K-SVD. Nos résultats expérimentaux montrent la performance de ces deux méthodes d'apprentissage de dictionnaire. Enfin, nous proposons un nouveau schéma pour l'apprentissage de dictionnaire adapté à la normalisation de l'illumination (Dictionary Learning for Illumination Normalization: DLIN). L'approche ici consiste à construire une paire de dictionnaires avec une représentation parcimonieuse. Ces dictionnaires sont construits respectivement à partir de visages illuminées normalement et irrégulièrement, puis optimisés de manière conjointe. Nous utilisons un modèle de mixture de Gaussiennes (GMM) pour augmenter la capacité à modéliser des données avec des distributions plus complexes. Les résultats expérimentaux démontrent l'efficacité de notre approche pour la normalisation d'illumination. / Face analysis techniques commonly require a proper representation of images by means of dimensionality reduction leading to embedded manifolds, which aims at capturing relevant characteristics of the signals. In this thesis, we first provide a comprehensive survey on the state of the art of embedded manifold models. Then, we introduce a novel non-linear embedding method, the Kernel Similarity Principal Component Analysis (KS-PCA), into Active Appearance Models, in order to model face appearances under variable illumination. The proposed algorithm successfully outperforms the traditional linear PCA transform to capture the salient features generated by different illuminations, and reconstruct the illuminated faces with high accuracy. We also consider the problem of automatically classifying human face poses from face views with varying illumination, as well as occlusion and noise. Based on the sparse representation methods, we propose two dictionary-learning frameworks for this pose classification problem. The first framework is the Adaptive Sparse Representation pose Classification (ASRC). It trains the dictionary via a linear model called Incremental Principal Component Analysis (Incremental PCA), tending to decrease the intra-class redundancy which may affect the classification performance, while keeping the extra-class redundancy which is critical for sparse representation. The other proposed work is the Dictionary-Learning Sparse Representation model (DLSR) that learns the dictionary with the aim of coinciding with the classification criterion. This training goal is achieved by the K-SVD algorithm. In a series of experiments, we show the performance of the two dictionary-learning methods which are respectively based on a linear transform and a sparse representation model. Besides, we propose a novel Dictionary Learning framework for Illumination Normalization (DL-IN). DL-IN based on sparse representation in terms of coupled dictionaries. The dictionary pairs are jointly optimized from normally illuminated and irregularly illuminated face image pairs. We further utilize a Gaussian Mixture Model (GMM) to enhance the framework's capability of modeling data under complex distribution. The GMM adapt each model to a part of the samples and then fuse them together. Experimental results demonstrate the effectiveness of the sparsity as a prior for patch-based illumination normalization for face images.

A partir de 280 isolados fúngicos de cana-de-açúcar, 18 cepas foram avaliadas quanto á presença de genes da policetídeo sintase por meio da técnica do PCR. Estes fungos foram identificados taxonomicamente por uma abordagem polifásica, classificando-os dentro de quatro ordens e nove gêneros. A avaliação da atividade biológica demonstrou a presença de metabolitos com propriedades antibióticas quando enfrentados a micro-organismos patogênicos. Segundo a análise de correspondência múltipla, esta atividade poderia estar associada com a local de isolamento dos fungos. Foram detectadas 36 seqüências similares a genes PKS a partir de 17 destes fungos. A análise filogenética do domínio KS, conduzida pelo método de neighbor-joining, indicou que 16 seqüências se acomodaram dentro do grupo monofilético dos PKS envolvidos na produção de policetídeos não reduzidos e as outras 10 seqüências se acomodaram dentro do grupo monofilético dos PKS envolvidos na produção de policetídeos reduzidos. A análise do domínio CMT também apontou que as seqüências podiam se acomodaram em grupos de PKS dependendo do grau de redução do policetídeo, todas as seqüências CMT se relacionaram com PKS envolvidos na produção de policetídeos reduzidos. As análises dos modelos estruturais também demonstraram que as seqüências estavam altamente relacionadas com estruturas protéicas da família das enzimas de condensação, destacando a presença de uma hélice característica que carrega o resíduo de cisteína, responsável pela atividade de condensação. Extratos orgânicos obtidos de cultivos dos fungos foram avaliados parar detectar a presença de compostos tipo lovastatina. Por meio de cromatografia CCDS, detectaram-se bandas de 10 extratos com o mesmo deslocamento que a lovastatina padrão, mas apenas 6 destas foram confirmados por CLAE. O isolado A. flavus CBMAI 1023, foi selecionado para a realização de experimentos de produção a maior escala onde foi possível isolar e caracterizar um novo policetídeo. / From a group of 280 sugarcane-derived fungi 18 strains were assessed for the presence of polyketide synthase genes by PCR approaches. These fungi were identified taxonomically by a polyphasic approach classifying into four orders and nine genres. Biological activity tests showed the presence of antibiotic metabolites against pathogenic microorganisms and the relationship of this activity might be linked with the fungal isolate location by multiple correspondence analyses. 36 sequences similar to PKS genes fragments were detected from 17 of these fungi. A neighbor-joining phylogenetic analysis of the KS domain showed that 16 sequences fit on the monophyletic group of PKS evolved with production of non reduced polyketides, and the other 10 sequences fit on the monophyletic group of PKS evolved with the production of reduced polyketides. CMT domain analysis also pointed that the sequences fit with groups of PKS depending on polyketide reduction grade, all ten related to PKS evolved with the synthesis of reduced polyketides. Protein structural analysis also pointed out that these sequences are closely related with proteins from condensing enzyme family, highlighting the presence of a characteristic helix elbow that bears the cysteine residue responsible for the condensation activity. The fungi were also tested for their capacity of producing lovastatin compounds where chromatographic TLC detected bands from 10 extracts with the same dislocation compared to a lovastatin, but only 6 were confirmed by HPLC. The A. flavus CBMAI (1023) were selected for upscale production experiments, from where it was possible isolate and characterize a new polyketide compound.

A partir de 280 isolados fúngicos de cana-de-açúcar, 18 cepas foram avaliadas quanto á presença de genes da policetídeo sintase por meio da técnica do PCR. Estes fungos foram identificados taxonomicamente por uma abordagem polifásica, classificando-os dentro de quatro ordens e nove gêneros. A avaliação da atividade biológica demonstrou a presença de metabolitos com propriedades antibióticas quando enfrentados a micro-organismos patogênicos. Segundo a análise de correspondência múltipla, esta atividade poderia estar associada com a local de isolamento dos fungos. Foram detectadas 36 seqüências similares a genes PKS a partir de 17 destes fungos. A análise filogenética do domínio KS, conduzida pelo método de neighbor-joining, indicou que 16 seqüências se acomodaram dentro do grupo monofilético dos PKS envolvidos na produção de policetídeos não reduzidos e as outras 10 seqüências se acomodaram dentro do grupo monofilético dos PKS envolvidos na produção de policetídeos reduzidos. A análise do domínio CMT também apontou que as seqüências podiam se acomodaram em grupos de PKS dependendo do grau de redução do policetídeo, todas as seqüências CMT se relacionaram com PKS envolvidos na produção de policetídeos reduzidos. As análises dos modelos estruturais também demonstraram que as seqüências estavam altamente relacionadas com estruturas protéicas da família das enzimas de condensação, destacando a presença de uma hélice característica que carrega o resíduo de cisteína, responsável pela atividade de condensação. Extratos orgânicos obtidos de cultivos dos fungos foram avaliados parar detectar a presença de compostos tipo lovastatina. Por meio de cromatografia CCDS, detectaram-se bandas de 10 extratos com o mesmo deslocamento que a lovastatina padrão, mas apenas 6 destas foram confirmados por CLAE. O isolado A. flavus CBMAI 1023, foi selecionado para a realização de experimentos de produção a maior escala onde foi possível isolar e caracterizar um novo policetídeo. / From a group of 280 sugarcane-derived fungi 18 strains were assessed for the presence of polyketide synthase genes by PCR approaches. These fungi were identified taxonomically by a polyphasic approach classifying into four orders and nine genres. Biological activity tests showed the presence of antibiotic metabolites against pathogenic microorganisms and the relationship of this activity might be linked with the fungal isolate location by multiple correspondence analyses. 36 sequences similar to PKS genes fragments were detected from 17 of these fungi. A neighbor-joining phylogenetic analysis of the KS domain showed that 16 sequences fit on the monophyletic group of PKS evolved with production of non reduced polyketides, and the other 10 sequences fit on the monophyletic group of PKS evolved with the production of reduced polyketides. CMT domain analysis also pointed that the sequences fit with groups of PKS depending on polyketide reduction grade, all ten related to PKS evolved with the synthesis of reduced polyketides. Protein structural analysis also pointed out that these sequences are closely related with proteins from condensing enzyme family, highlighting the presence of a characteristic helix elbow that bears the cysteine residue responsible for the condensation activity. The fungi were also tested for their capacity of producing lovastatin compounds where chromatographic TLC detected bands from 10 extracts with the same dislocation compared to a lovastatin, but only 6 were confirmed by HPLC. The A. flavus CBMAI (1023) were selected for upscale production experiments, from where it was possible isolate and characterize a new polyketide compound.

This thesis deals with the theoretical description of the infiltration process and field measurements of infiltration in the cadastral territory of Bohaté Málkovice. The research work carried out in 2011 in an experimental area on Haplic Chernozem/FAO, medium-heavy loam soil. The experimental area was divided into two parts, the topsoil layer on these surfaces was processed by both classic and minimization technologies. The plots were sown by spring barley. The applied measurements of water infiltration into the soil were two-cylinder method and MiniDisc. Within the vicinity of the infiltration experiments with intact soil were collected samples for laboratory determination of saturated hydraulic conductivity. From the field measurements and laboratory experiments were determined values of hydraulic conductivity (saturated and unsaturated), and other infiltration characteristics, the cumulative infiltration and infiltration rate. To evaluate the infiltration of the heats was used three-paramether Philp type equation that provides a good estimate of saturated hydraulic conductivity. For the evaluation of the MiniDisc there was used the Zangova method that provides the unsaturated hydraulic conductivity. The laboratory evaluation of the saturated hydraulic conductivity was compared with the estimated values obtained from the field measurements. The values of the saturated hydraulic conductivity from the laboratory measurements are closely comparable with estimates obtained from the steady infiltration rates from the field experiments. The research results also showed that medium-heavy loam soil, when being processed by minimization including modification of the soil surface by digging, have a positive effect on the infiltration of water into the soil. This fact leads to a higher protection plants in the vegetative period and improvement of the retention and storage capacity of soil.

The purpose of my thesis is to analyse sociological and theological reasons for formation of the Faith Church and also clarify the doctrinal difference from The Christian Fellowship Church in the Czech Republic. This thesis consists of four chapters. The first chapter presents the general characteristics of The Pentecostal movement and classifies The Christian Fellowship Church in the Czech Republic and The Church of Faith as a specific christian stream and movement. The second chapter focuses on historical context and circumstances in which The Church of Faith emerges and describes the ground for departure of this part of the church from their original organization Christian Fellowship Church in the Czech Republic. The next chapter deals with specific theological base of The Church of Faith, especially in the field of ecclesiology and namely perception of the authority in the church, demonology and anthropology, the importance of healing in the context of soteriology and characteristic concept of eschatology. The fourth chapter deals with the state registration process of the Christian Fellowship Church in the Slovak republic which gave the way to the start of the Church of Faith. It also deals with the difference between legal position of the new religious movements in the Czech and Slovak society.

Les duplicacions segmentàries (DSs), o també anomenades duplicons o Low copy Repeats (LCRs), són regions de coma mínim 1 kb amb un alt nivell d'identitat (>90%), que estan presents almenys dues vegades en el genoma. La regió 8p23.1 consta de 6.5 Mb a la part distal del braç curt del cromosoma 8 i està flanquejada per duplicacions segmentàries. Degut a la seva arquitectura genòmica aquesta regió és susceptible a patir reordenaments mediats per recombinació homòloga no al·lèlica entre les DSs, com per exemple la inversió polimòrfica de 8p23.1 [inv(8)(p23)], present en un de cada quatre individus de la població general europea i japonesa, així com d'altres reorganitzacions menys corrents.El treball realitzat en aquesta tesi doctoral pretén aprofundir en la caracterització de la complexa arquitectura genòmica d'aquesta regió. En la nostra primera aproximació a l'estudi de les DSs que flanquegen la regió cromosòmica 8p23.1, es va identificar una nova família gènica específica de primats, la família gènica FAM90A.Així, bona part d'aquesta tesi doctoral està centrada en l'anàlisi de l'origen, formació, evolució i expansió de FAM90A en els homínids. Per altra banda també s'ha analitzant en detall la variabilitat de FAM90A com a variant en número de còpia (CNV) en diferents poblacions humanes.Finalment, s'ha establert la freqüència de la inversió que afecta a 8p23.1 en població espanyola. També s'ha procedit a genotipar diversos individus homozigots per la inversió i s'ha predit l' estatus de la inversió en 150 individus del projecte HapMap i s'ha analitzat l'efecte que té aquesta reorganització sobre els nivells d'expressió dels gens de la regió. / Segmental duplications (SDs), also known as duplicons or Low Copy Repeats (LCRs), are regions of a minimum of 1 kb with a high sequence identity level (>90%), which are present at least two times in the genome. The 8p23.1 region extends 6.5 Mb at the distal part of the short arm of chromosome 8 and it is flanked by segmental duplications. Due to its genomic architecture the region is prone to suffer rearrangements mediated by non-allelic homologous recombination between these SDs, such as the polymorphic inversion of 8p23.1 [inv(8)(p23)], which is present in one out of every four of European and Japanese general population individuals, as well as other less frequent rearrangements.The aim of the work presented in this doctoral thesis is to get insights in the characterization of the genomic architecture of this complex region. Our first approach to study the SDs flanking 8p23.1 region resulted in the identification of a novel gene family which is primate specific, the FAM90A gene family. Thus, this doctoral thesis is mainly focused on the analysis of the origins, formation, evolution and expansion of FAM90A in hominoids. It has also been analyzed in detail the variability of FAM90A as a copy number variant (CNV) in different human populations.Finally, it has been established the frequency of the inversion affecting 8p23.1 region in the Spanish population. Several homozygous inverted individuals have been genotyped and the status for the inversion has been predicted for 150 HapMap individuals, as well as the effect of this rearrangement on the gene expression levels of the genes contained in the region.