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Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System
John F. Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M. H?lter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H. Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S. Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C. Wheeler, Rose-Mary Boustany, Diane E. Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L. Cotman
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0038310
Abstract: Cln3Δex7/8 mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death. Here, to more thoroughly investigate the manifestations of the common JNCL mutation, we performed a broad phenotyping study of Cln3Δex7/8 mice. Homozygous Cln3Δex7/8 mice, congenic on a C57BL/6N background, displayed subtle deficits in sensory and motor tasks at 10–14 weeks of age. Homozygous Cln3Δex7/8 mice also displayed electroretinographic changes reflecting cone function deficits past 5 months of age and a progressive decline of retinal post-receptoral function. Metabolic analysis revealed increases in rectal body temperature and minimum oxygen consumption in 12–13 week old homozygous Cln3Δex7/8mice, which were also seen to a lesser extent in heterozygous Cln3Δex7/8 mice. Heart weight was slightly increased at 20 weeks of age, but no significant differences were observed in cardiac function in young adults. In a comprehensive blood analysis at 15–16 weeks of age, serum ferritin concentrations, mean corpuscular volume of red blood cells (MCV), and reticulocyte counts were reproducibly increased in homozygous Cln3Δex7/8 mice, and male homozygotes had a relative T-cell deficiency, suggesting alterations in hematopoiesis. Finally, consistent with findings in JNCL patients, vacuolated peripheral blood lymphocytes were observed in homozygous Cln3Δex7/8 neonates, and to a greater extent in older animals. Early onset, severe vacuolation in clear cells of the epididymis of male homozygous Cln3Δex7/8 mice was also observed. These data highlight additional organ systems in which to study CLN3 function, and early phenotypes have been established in homozygous Cln3Δex7/8 mice that merit further study for JNCL biomarker development.
A generalized solution to a Cahn-Hilliard/Allen-Cahn system
Jose Luiz Boldrini,Patricia Nunes da Silva
Electronic Journal of Differential Equations , 2004,
Abstract: We study a system consisting of a Cahn-Hilliard and several Allen-Cahn type equations. This system was proposed by Fan, L.-Q. Chen, S. Chen and Voorhees for modelling Ostwald ripening in two-phase system. We prove the existence of a generalized solution whose concentration component is in $L^{infty}$.
Síndrome de Waardenburg tipo I: relato de caso
Silva, Patricia Capua Vieira da;Rangel, Paula;Couto Jr., Abelardo;
Arquivos Brasileiros de Oftalmologia , 2011, DOI: 10.1590/S0004-27492011000300013
Abstract: waardenburg syndrome (ws) type i is a non-progressive auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum (lateral displacement of the inner canthi). affected individuals may have higher risk of: neural tube defects, cleft lip and palate, limb abnormalities, and hirschsprung disease. the diagnosis is clinical and should be considered if the individual has two major or one major plus two minor criteria. pax3 is the only known gene associated to the syndrome. nevertheless, its use is mostly for genetic counseling. regarding different diagnosis, we may list: other causes of non-progressive auditory-pigmentary disorder comprising congenital sensorineural hearing loss, other types of waardenburg syndrome, piebaldism, albinism, vitiligo and teitz syndrome. this paper presents a case of an eleven year old boy with deafness and ophthalmologic alterations, based on his files and exams. it reinforced the importance of the ophthalmologist contributing for the diagnosis of this rare systemic disease, as it includes some ophthalmologic alterations. we remind that the early diagnosis allows adequate stimulation for the hearing loss, as well as preventive measures in case of pregnant women affected by genetic counseling.
Látex de amapá (Parahancornia fasciculata (Poir) Benoist, Apocynaceae): remédio e renda na floresta e na cidade
Silva, Murilo da Serra;Fantini, Alfredo Celso;Shanley, Patricia;
Boletim do Museu Paraense Emílio Goeldi. Ciências Humanas , 2011, DOI: 10.1590/S1981-81222011000200003
Abstract: the study investigated the production and trade chain as well as aspects of the consumption of the medicinal latex from amapa tree (parahancornia fasciculata) in the municipalities of belém and ponta de pedras, state of pará, brazil. our goal was to shed light upon several aspects related to the management and use of the product, revealing its importance to the life of producers and consumers. the approach used was the 'production to consumption chain' through qualitative and quantitative research methods, including market survey, interviews with extractivists, traders and consumers, workshops, guided visits and forest inventories. the eight thousand litters of milk sold annually in the belém markets benefit especially the poor people, to whom the use of the 'amapa milk' is secular. the revenue from the latex represents 42% of the total income from non timber forest products for the tappers. the large number of individuals and the j-shaped diameter distribution of trees suggest the possibility of its natural regeneration. the improvement of the tapping technique reveals that the extractivists have knowledge on the tree anatomy. the tradition in the use and management of amapa milk as well as the ecological characteristics of the species indicates a good potential for programs on its sustainable production.
Hospital infection control in intensive care unit: retrospective study Controle de infec o hospitalar em unidade de terapia intensiva: estudo retrospectivo
Patricia Terron Ghezzi M. Abegg,Ligiane de Lourdes da Silva
Semina : Ciências Biológicas e da Saúde , 2011,
Abstract: This study aimed at verifying the occurrence of isolated microorganisms of hospitalized patients during the stages of implantation of the Hospital Infection Control Commission (HICC) in an Intensive Care Unit at a private hospital in the city of Toledo, Paraná. It is about a retrospective study, during the period of February/ 2007 to March/ 2008. Of the total internments, 37 patients presented positive cultures and Pseudomonas aeruginosa was the most isolated microorganism, with 30.77% incidence, followed by Staphylococcus epidermidis, 23.08%, followed by other seven microorganisms with inferior incidences.This study aimed at verifying the occurrence of isolated microorganisms of hospitalized patients during the stages of implantation of the Hospital Infection Control Commission (HICC) in an Intensive Care Unit at a private hospital in the city of Toledo, Paraná. It is about a retrospective study, during the period of February/ 2007 to March/ 2008. Of the total internments, 37 patients presented positive cultures and Pseudomonas aeruginosa was the most isolated microorganism, with 30.77% incidence, followed by Staphylococcus epidermidis, 23.08%, followed by other seven microorganisms with inferior incidences. In the second phase, during the beginning of the activities, 10 patients presented infection, with the growth of Pseudomonas aeruginosa, 30%, Klebsiella sp., 15%, Staphylococcus aureus, Klebsiella pneumoniae, Staphylococcus epidermidis, Enterobacter cloacae, 10%, and Streptococcus hemolytic gamma, Escherichia coli, and Enterobacter sp., 5%. With the CCIH norms being actively used in the third phase of the data collection, it is possible to realize that this relation distances itself, resulting in five patients with infection, being Pseudomonas aeruginosa, 75% and Staphylococcus epidermidis and Streptococcus hemolytic beta, 12.5%. About one year after the beginning of the activities of the HICC, it is observed that in he fourth phase, six patients presented infection, with Pseudomonas aeruginosa,54.5% and Enterobacter aerogenes, 45.5%. The formation, the training, the commitment and collaborating awareness of the medical staff, associated with the daily use of the norms praised by the hospital Infection Control Commission, are essential tools to enable the satisfactory and meaningful result in the reduction of the cases of hospital infection, improving the quality of health assistance.
Alternating hemiplegia of childhood: Case report
Abram Topczewski,Jairo Wagner,Patricia da Silva Souza
Einstein (S?o Paulo) , 2006,
Abstract: The case of a 13-year old boy presenting alternating hemiplegia ofchildhood that began later than usual is reported. The clinical coursesuggests, however, a case of benign alternating hemiplegia ofchildhood. The treatment with flunarizine was good for the patient.
Latex of amapa (Parahancornia fasciculata (Poir) Benoist, Apocynaceae): remedy and income in the forest and in the town
Murilo da Serra Silva,Alfredo Celso Fantini,Patricia Shanley
Boletim do Museu Paraense Emílio Goeldi. Ciências Humanas , 2011,
Abstract: The study investigated the production and trade chain as well as aspects of the consumption of the medicinal latex from amapa tree (Parahancornia fasciculata) in the municipalities of Belém and Ponta de Pedras, State of Pará, Brazil. Our goal was to shed light upon several aspects related to the management and use of the product, revealing its importance to the life of producers and consumers. The approach used was the 'production to consumption chain' through qualitative and quantitative research methods, including market survey, interviews with extractivists, traders and consumers, workshops, guided visits and forest inventories. The eight thousand litters of milk sold annually in the Belém markets benefit especially the poor people, to whom the use of the 'amapa milk' is secular. The revenue from the latex represents 42% of the total income from non timber forest products for the tappers. The large number of individuals and the J-shaped diameter distribution of trees suggest the possibility of its natural regeneration. The improvement of the tapping technique reveals that the extractivists have knowledge on the tree anatomy. The tradition in the use and management of amapa milk as well as the ecological characteristics of the species indicates a good potential for programs on its sustainable production.
Production of functional killer protein in batch cultures upon a shift from aerobic to anaerobic conditions
Silva, Gildo Almeida da;Poli, Jandora Severo;Poletto, Carolina Madalozzo;Schaker, Patricia Dayane Carvalho;Valente, Patricia;
Brazilian Archives of Biology and Technology , 2011, DOI: 10.1590/S1516-89132011000300022
Abstract: the aim of this work was to study the production of functional protein in yeast culture. the cells of saccharomyces cerevisiae embrapa 1b (k+r+) killed a strain of saccharomyces cerevisiae embrapa 26b (k-r-)in grape must and yepd media. the lethal effect of toxin-containing supernatant and the effect of aeration upon functional killer production and the correlation between the products of anaerobic metabolism and the functional toxin formation were evaluated. the results showed that at low sugar concentration, the toxin of the killer strain of sacch. cerevisiae was only produced under anaerobic conditions . the system of killer protein production showed to be regulated by pasteur and crabtree effects. as soon as the ethanol was formed, the functional killer toxin was produced. the synthesis of the active killer toxin seemed to be somewhat associated with the switch to fermentation process and with concomitant alcohol dehydrogenase (adh) activity.
Spatial Analysis of Affected Areas by Extreme Hydrological Events in Rio de Janeiro (The Host City for the 2016 Olympic Games)—Brazil  [PDF]
Leandro Andrei Beser de Deus, Camilla Silva Motta Santos, Patricia Gomes da Silveira, Marcos Aurélio Vasconcelos Freitas, Paulo Márcio Leal Menezes
Journal of Geographic Information System (JGIS) , 2013, DOI: 10.4236/jgis.2013.54032
Abstract:

The most frequent types of disasters in Brazil are associated with extreme hydrological events. Adding to this situation, in Brazil, there are the extreme sociospatial discrepancies that are historically constructed. They leave marks in space, making specific areas, for political interest or not, more vulnerable to the different mentioned processes. To this extent, the public management should plan actions and, also, it may act in a more holistic way adding new trends, such as, the use of geotechnologies that are applied to environmental management in the realm of urban planning. From a case study in the city of Rio de Janeiro, this paper aims to contribute and draw attention to such issues. It may reach its target through pointing and spatially analyzing which areas are in the most critical situation related to the occurrence of extreme hydrological events. To achieve this goal, it was proposed a methodology to inventory the occurrence of inundation/flooding for a certain period, in this case 2001-2008. Besides, the methodology could systematize data and integrate them with other important issues for supporting the process of identification and analysis of the most critical areas. Historical aspects of occupation and the most vulnerable socio-environmental aspects were raised, too, in order to validate the highlighted areas. This integration was enabled concerning the support of geoprocessing techniques. The results of this integration subsidized the mapping and spatial analysis of the affected areas in the city and the criticality in relation to the extreme hydrological events. Finally, it was possible to observe that the identification of the most critical affected areas does not mean the exhaustion of the subject. The location of these areas is directly linked to the sample that was used as the basis for analyses. This data set only represents recorded events by the Municipal Civil Defense respecting the studied time frame. However, the results permit to take notes and raise relevant environmental questions about the roots and the occurred impacts that were originated from the extreme hydrological events, which have been observed in recent decades.

Utiliza??o de medicamentos por gestantes usuárias do Sistema único de Saúde no município de Santa Rosa (RS, Brasil)
Brum,Lucimar Filot da Silva; Pereira,Patricia; Felicetti,Lilian Leticia; Silveira,Renata Dischke da;
Ciência & Saúde Coletiva , 2011, DOI: 10.1590/S1413-81232011000500012
Abstract: in order to ascertain the use of prescribed and unprescribed drugs among pregnant patients of the unified health system (sus), a descriptive study comprised of a sample of pregnant women was carried out in the city of santa rosa, state of rio grande do sul, brazil. data were collected by means of structured interviews and consultation of patient records of pregnant women in the prenatal period. the prevalence of drug use was 90%, corresponding to an average of 4.1 drugs per pregnant woman, of which 83.6% were prescribed and 16.4% were self-medicated. of this total, 17.5% of the drugs were included in fetal risk category c. the use of drugs during pregnancy is frequent and the majority of the pregnant women used one or more prescribed and unprescribed drugs during pregnancy. these data suggest the need for preventive measures to promote rational drug use during pregnancy.
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