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As maiores taxas de recarga subterrânea do Sistema Aquífero Guarani (SAG) ocorrem nas áreas de afloramento das Formações Botucatu e Pirambóia. O principal objetivo deste trabalho foi avaliar as taxas de recarga subterrânea e suas relações com as variações da precipitação e do uso do solo na bacia hidrográfica do Ribeirão da Onça, situada em área de afloramento do SAG. A variação do nível freático foi medida em 11 poços de monitoramento, distribuídos em diferentes culturas agrícolas na bacia, durante o período de estudo (Outubro de 2004 até Setembro de 2011). Técnicas de tratamento de imagens multiespectrais foram usadas para mapear o uso do solo na bacia. A recarga direta em cada poço foi estimada por um método de escala local (Water Table Fluctuation, WTF) um método de escala de regional (Recession Curve Displacement Method, RCDM). Outro método de escala local foi avaliado (Chloride Mass Balance, CMB) em poços com cultura de pastagem. Foi estimado o armazenamento subterrâneo, o escoamento direto, o escoamento de base e a percolação profunda do aquífero em direção à Formação Botucatu. A espacialização da recarga direta para a bacia, usando os resultados do método WTF, foi feita de acordo com as áreas das culturas agrícolas. A recarga direta para a bacia foi estimada entre 80 mm e 359 mm, correspondente a 7% e 20% da precipitação anual de aproximadamente 1175 mm e de 1808 mm, respectivamente. A recarga direta, usando o método RCDM, variou entre 16% (229 mm) e 34% (~618 mm) da precipitação do ano 2009-2010 e 2010-2011, respectivamente. Foram observadas menores taxas de recarga nas áreas com cultura de eucaliptos em citros em relação às áreas com pastagem e cana-de-açúcar. Caso haja diminuição das precipitações e aumento das áreas de eucaliptos na bacia do Ribeirão da Onça, a recarga poderá sofrer diminuição, ocasionando menores escoamentos de base em direção ao Ribeirão da Onça. A avaliação contínua da recarga nas áreas de afloramento é essencial para a futura utilização das águas do SAG nas atividades agrícolas, industriais e de abastecimento público. / The major groundwater recharge rates of the Guarani Aquifer System (GAS) occur in the outcrop areas of Botucatu and Pirambóia Formations. This work aimed at estimating recharge rates and its relation with precipitation and land use in Ribeirão da Onça watershed, located in outcrop area of the GAS, during a seven years term monitoring (October 2004 until September 2011). The water table fluctuations were measured at 11 piezometers, located in different crops areas. Processing techniques for multispectral images were used to map the land use. Recharge was estimated trough a local-scale method (Water Table fluctuation, WTF) and a basin-scale method (Recession Curve Displacement Method, RCDM). Another local-scale method was used (Chloride Mass Balance, CMB) to estimate recharge rate in grassland area. The upscaling of recharge estimates using the results of WTF method for the watershed was performed, according to crop areas. Groundwater storage, quickflow, baseflow and deep percolation toward from the shallow aquifer to Botucatu Formation were also estimated. The results demonstrated that recharge estimates for areas with eucalyptus and citrus was lower than areas with grassland, sugar cane and citrus. Annual recharge rates estimated by WTF ranged from 80 mm (7%) to 359 mm (20%) for annual rainfall of about 1175 mm and 1808 mm, respectively. Recharge rates by RCDM ranged between about 229 (2009-2010) mm to 618 mm (2010-2011) for the entire watershed. CMB method provides mean recharge rate about 590 mm (2010-2011). These results suggest that if eucalyptus areas continue rising in the watershed, the recharge rates and baseflow would considerably decrease. The continuing assessment of recharge in outcrop areas is essential for future use of the GAS.

As maiores taxas de recarga subterrânea do Sistema Aquífero Guarani (SAG) ocorrem nas áreas de afloramento das Formações Botucatu e Pirambóia. O principal objetivo deste trabalho foi avaliar as taxas de recarga subterrânea e suas relações com as variações da precipitação e do uso do solo na bacia hidrográfica do Ribeirão da Onça, situada em área de afloramento do SAG. A variação do nível freático foi medida em 11 poços de monitoramento, distribuídos em diferentes culturas agrícolas na bacia, durante o período de estudo (Outubro de 2004 até Setembro de 2011). Técnicas de tratamento de imagens multiespectrais foram usadas para mapear o uso do solo na bacia. A recarga direta em cada poço foi estimada por um método de escala local (Water Table Fluctuation, WTF) um método de escala de regional (Recession Curve Displacement Method, RCDM). Outro método de escala local foi avaliado (Chloride Mass Balance, CMB) em poços com cultura de pastagem. Foi estimado o armazenamento subterrâneo, o escoamento direto, o escoamento de base e a percolação profunda do aquífero em direção à Formação Botucatu. A espacialização da recarga direta para a bacia, usando os resultados do método WTF, foi feita de acordo com as áreas das culturas agrícolas. A recarga direta para a bacia foi estimada entre 80 mm e 359 mm, correspondente a 7% e 20% da precipitação anual de aproximadamente 1175 mm e de 1808 mm, respectivamente. A recarga direta, usando o método RCDM, variou entre 16% (229 mm) e 34% (~618 mm) da precipitação do ano 2009-2010 e 2010-2011, respectivamente. Foram observadas menores taxas de recarga nas áreas com cultura de eucaliptos em citros em relação às áreas com pastagem e cana-de-açúcar. Caso haja diminuição das precipitações e aumento das áreas de eucaliptos na bacia do Ribeirão da Onça, a recarga poderá sofrer diminuição, ocasionando menores escoamentos de base em direção ao Ribeirão da Onça. A avaliação contínua da recarga nas áreas de afloramento é essencial para a futura utilização das águas do SAG nas atividades agrícolas, industriais e de abastecimento público. / The major groundwater recharge rates of the Guarani Aquifer System (GAS) occur in the outcrop areas of Botucatu and Pirambóia Formations. This work aimed at estimating recharge rates and its relation with precipitation and land use in Ribeirão da Onça watershed, located in outcrop area of the GAS, during a seven years term monitoring (October 2004 until September 2011). The water table fluctuations were measured at 11 piezometers, located in different crops areas. Processing techniques for multispectral images were used to map the land use. Recharge was estimated trough a local-scale method (Water Table fluctuation, WTF) and a basin-scale method (Recession Curve Displacement Method, RCDM). Another local-scale method was used (Chloride Mass Balance, CMB) to estimate recharge rate in grassland area. The upscaling of recharge estimates using the results of WTF method for the watershed was performed, according to crop areas. Groundwater storage, quickflow, baseflow and deep percolation toward from the shallow aquifer to Botucatu Formation were also estimated. The results demonstrated that recharge estimates for areas with eucalyptus and citrus was lower than areas with grassland, sugar cane and citrus. Annual recharge rates estimated by WTF ranged from 80 mm (7%) to 359 mm (20%) for annual rainfall of about 1175 mm and 1808 mm, respectively. Recharge rates by RCDM ranged between about 229 (2009-2010) mm to 618 mm (2010-2011) for the entire watershed. CMB method provides mean recharge rate about 590 mm (2010-2011). These results suggest that if eucalyptus areas continue rising in the watershed, the recharge rates and baseflow would considerably decrease. The continuing assessment of recharge in outcrop areas is essential for future use of the GAS.

<p>Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease.</p><p>Obesity appears when energy intake exceeds energy expenditure which leads to an abnormal accumulation of fat in the adipocyte tissue. We have studied a family with a balanced chromosomal translocation t(4;15) segregating with severe obesity. The chromosomal breakpoints create a fusion gene involving the gene for isoform 1 of RAR-related orphan receptor A (<i>RORa1</i>) which is implicated in the regulation of adipogenesis and lipoprotein metabolism. We hypothesize that the obesity in this family is caused by haploinsufficiency of this gene or a gain of function of the fusion gene.</p><p>Ichthyosis prematurity syndrome (IPS) is a rare skin disorder belonging to a group of autosomal recessive congenital ichthyosis. We have mapped the locus for IPS to chromosome 9q34. Within the IPS locus, we identified a core haplotype with a high carrier frequency among affected, which indicate a possible founder mutation for the disease. The minimal shared region in affected patients contains seven genes which are candidates for IPS.</p><p>Meniere's disease (MD) is characterised by spontaneous attacks of vertigo, fluctuating sensorineural low frequency hearing loss, aural fullness, and tinnitus. We mapped the MD locus to chromosome 12p13 using three Swedish families. The linked region is 463 kb, containing only one gene, a phosphoinositide-3-kinase (<i>PIK3C2G</i>). Involvement of phosphatidylinositol 3-kinases (PI-3K) in the intra cellular signalling cascades of cells in mammalian balance epithelia makes this gene a good candidate gene for MD.</p>

Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease. Obesity appears when energy intake exceeds energy expenditure which leads to an abnormal accumulation of fat in the adipocyte tissue. We have studied a family with a balanced chromosomal translocation t(4;15) segregating with severe obesity. The chromosomal breakpoints create a fusion gene involving the gene for isoform 1 of RAR-related orphan receptor A (RORa1) which is implicated in the regulation of adipogenesis and lipoprotein metabolism. We hypothesize that the obesity in this family is caused by haploinsufficiency of this gene or a gain of function of the fusion gene. Ichthyosis prematurity syndrome (IPS) is a rare skin disorder belonging to a group of autosomal recessive congenital ichthyosis. We have mapped the locus for IPS to chromosome 9q34. Within the IPS locus, we identified a core haplotype with a high carrier frequency among affected, which indicate a possible founder mutation for the disease. The minimal shared region in affected patients contains seven genes which are candidates for IPS. Meniere's disease (MD) is characterised by spontaneous attacks of vertigo, fluctuating sensorineural low frequency hearing loss, aural fullness, and tinnitus. We mapped the MD locus to chromosome 12p13 using three Swedish families. The linked region is 463 kb, containing only one gene, a phosphoinositide-3-kinase (PIK3C2G). Involvement of phosphatidylinositol 3-kinases (PI-3K) in the intra cellular signalling cascades of cells in mammalian balance epithelia makes this gene a good candidate gene for MD.

Σκοπός της παρούσας εργασίας ήταν η μελέτη της έκφρασης των γονιδίων NFY-C και RORA σε αδενοκαρκινώματα παχέος εντέρου και η σχέση της έκφρασης του NFY-C με την κατάσταση του γονιδίου p53. Η NFY-C πρωτεΐνη είναι μια από τις τρεις υπομονάδες του μεταγραφικού παράγοντα NFY, ο οποίος προσδένεται στους υποκινητές πολλών ευκαρυωτικών γονιδίων, περιλαμβανομένων γονιδίων που σχετίζονται με τον κυτταρικό κύκλο, επάγοντας τη μεταγραφή τους. Η ογκοκατασταλτική πρωτεΐνη p53 συνδέεται με τον NFY για τη μεταγραφή γονιδίων. Η πρωτεΐνη RORA είναι ένας υποδοχέας στεροειδών ορμονών, ο οποίος εμπλέκεται σε μια σειρά κυτταρικών διαδικασιών. Στην παρούσα μελέτη προσδιορίστηκαν τα επίπεδα mRNA του NFY-C και του RORA με ποσοτική RT-PCR σε 81 δείγματα καρκινικού ιστού παχέος εντέρου και 53 δείγματα φυσιολογικού ιστού παχέος εντέρου από ασθενείς με αδενοκαρκίνωμα παχέος εντέρου και διερευνήθηκε η σχέση τους με τα κλινικοπαθολογικά χαρακτηριστικά των ασθενών. Η πρωτεϊνική έκφραση του NFY-C προσδιορίστηκε με ανοσοϊστοχημεία σε 92 δείγματα νεοπλασματικού ιστού και 36 δείγματα φυσιολογικού ιστού παχέος εντέρου. Η κατάσταση των εξωνίων 5, 6, 7 και 8 του γονιδίου p53 προσδιορίστηκε με τη μέθοδο PCR-SSCP. Τα επίπεδα mRNA και πρωτεΐνης του NFY-C ήταν αυξημένα στους καρκινικούς ιστούς σε σχέση με τους φυσιολογικούς και διέφεραν ανάμεσα σε όγκους διαφορετικής εντόπισης. Τα υψηλά επίπεδα mRNA του NFY-C σχετίστηκαν με μεγαλύτερο ελεύθερο νόσου διάστημα (TTP) σε ασθενείς σταδίου Β. Η NFY-C πρωτεΐνη εντοπίστηκε μόνο στο κυτταρόπλασμα του κυττάρου και όχι στον πυρήνα και η έκφρασή της διέφερε ανάμεσα σε όγκους διαφορετικού σταδίου. Τα επίπεδα mRNA του RORA ήταν μειωμένα στους καρκινικούς ιστούς σε σχέση με τους φυσιολογικούς και διέφεραν ανάμεσα σε όγκους διαφορετικής εντόπισης. Η πρωτεϊνική έκφραση του NFY-C σχετίζεται με την κατάσταση του p53 ως προς την επιβίωση των ασθενών και το TTP. Συμπερασματικά, οι διαφορές έκφρασης των μορίων NFY-C και RORA υποδηλώνουν έναν πιθανό ρόλο στην καρκινογένεση του παχέος εντέρου. / The aim of the current study was to evaluate NFY-C and RORA expression and investigate the correlation of NFY-C expression with p53 status in patients with colorectal carcinoma. NFY-C protein is one of the three subunits of nuclear factor Y, which binds to the promoters of many eucaryotic genes, including cell cycle – related genes, inducing their transcription. p53 tumor supressor protein binds to NFY and induce gene expression. RORA protein is a steroid hormone receptor, which is implicated in many cellular processes. In the current study NFY-C and RORA mRNA levels were evaluated by quantitative RT-PCR in 81 neoplastic colorectal tissue specimens and 53 normal tissue specimens from patients with colorectal adenocarcinoma and were analysed in relation to clinicopathological parameters of the patients. Protein expression of NFY-C was assessed by immunochemistry in 92 malignant and 36 normal samples from patients with colorectal adenocarcinoma. p53 status of the exons 5, 6, 7 and 8 was detected using PCR-SSCP method. NFY-C mRNA and protein levels were elevated in malignant tissues compared to normal tissues and were related to the primary site of the tumor. Elevated mRNA levels of NFYC of stage B patients were significantly correlated with time to disease progression. NFY-C protein was detected only in the cytoplasm and not in the nucleus and its expression was correlated with the stage of the disease. RORA mRNA levels were decreased in normal tissues compared to malignant tissues and were related to the primary site. Protein expression of NFY-C in combination with p53 status is associated with overall survival and time to disease progression of the patients. In conclusion, the differential expression of NFY-C and RORA indicates a possible role for these molecules in colon carcinogenesis.

Age-related macular degeneration (AMD) is a prevalent cause of vision loss and irreversible blindness that affects more than 11 million Americans. AMD is a multifactorial disease with a number of genetic, demographic, and environmental risk factors. Currently the etiology of AMD is still unclear and there are no effective cure for this devastating disease, but recent studies have demonstrated that RORA is a candidate gene involved in AMD pathophysiology. RORA is a critical regulator of multiple biological processes and has been implicated in various physiological processes including circadian rhythm, lipid metabolism, photoreceptor development, autism, and inflammation. Our current study will explore in depth the role of RORA in AMD. We will look at the effects of RORA in the retina of mice. Localization studies of retinal tissues obtained from mice with a conditional knockout of RORA in epithelial cells showed little effect of RORA on structural cells of the retina. However, there was a decrease in VEGF and TGF-B proteins in RORA knockout. This is an interesting finding because VEGF and TGF-B has an important function in angiogenesis and neovascularization which are pathophysiological effects of AMD. In addition, we will try to identify gene targets of RORA that have also been linked with AMD. By identifying the targets of RORA and discovering how RORA regulates these targets, we hope to better understand the role of RORA in AMD pathophysiology. ChIP-seq and software analysis of the data was performed to identify all genomic targets of RORA linked with AMD. A number of promising genes were found in both RORA and AMD networks. The next step of this study is to perform quantitative analysis of these genes and how their expression is affected by RORA. Also, we will perform additional conditional RORA knockout models in cone cells and developing retinal cells to further understand the role of RORA in the retina and AMD pathogenesis.

No description available.