969 resultados para Lundberg, Ulla-Lena
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Investigação pioneira aplicando Radar de Penetração no Solo (GPR) na área da Praia do Atalaia, norte do Brasil, nos permitiu caracterizar, pela primeira vez, fácies e estratigrafia dos depósitos conhecidos informalmente como Sedimentos Pós-Barreiras (Plioceno e mais recente). Esta sucessão sedimentar recobre discordantemente o embasamento miocênico, representado pelas formações Pirabas/Barreiras. Três unidades estratigráficas foram reconhecidas. A Unidade 1, inferior, consiste em um intervalo com 6 m de espessura média dominado por reflexões pobremente definidas e de baixa amplitude, e que intergradam com reflexões de média escala dos tipos tangencial, obliquo e hummocky. A Unidade 2, intermediária, possui cerca de 9 m de espessura e inclui, principalmente, reflexões oblíquas de larga escala, cujas configurações variam de paralela, tangencial, sigmoidal a sigmoidal-complexa. A Unidade 3, superior, corresponde a um intervalo entre 3,5 e 9 m de espessura, sendo dominada por reflexões hummocky, seguidas por reflexões de média escala dos tipos oblíquo, paralelo a sub-paralelo, e em corte-e-preenchimento. A análise da configuração das reflexões internas e geometria das reflexões nos leva a propor que a unidade correspondente aos Sedimentos Pós-Barreiras é mais variável faciologicamente que inicialmente imaginado, incluindo depósitos eólicos (dunas costeiras), bem como depósitos de cordão litorâneo, planície de maré, canal e mangue. Além disto, o mapeamento das três unidades descritas acima é importante para desvendar a complexidade de sedimentação versus erosão durante o Neógeno tardio no norte do Brasil.
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ABSTRACT: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95% of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated only in Southeast Brazilian patients. This study is the first report on the distribution of CYP21 mutations in patients from the Amazon region. Direct sequencing of the CYP21 gene identified at least one mutation in 96% of the studied chromosomes. The most common mutations found were IVS2-13A/C > G (36%), Q318X (12%), V281L (12%), 1760_1761insT (9%), Cluster E6 (7%), and P30L (7%). The worldwide most common mutations were identified among patients from the Amazon region at frequencies that may be expected for a population resulting from the admixture of Europeans (predominantly Portuguese), African Blacks and Amerindians, in proportions that differ from those estimated for South Brazilian populations. Interethnic mixture may explain the differences in the frequencies of some mutations between Brazilian patients from the Amazon and from the Southeast of the country. However, the differences found may also be due to variation in the number of patients with the different clinical forms of 21-hydroxylase deficiency in the studies carried out so far.
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Vibrio cholerae, agente etiológico da cólera, é uma bactéria nativa de ambientes aquáticos de regiões temperadas e tropicais em todo o mundo. A cólera é endemica e epidemica em países da África, Ásia e Americas Central e do Sul. Neste trabalho o objetivo foi estudar a diversidade genética de isolados desta espécie, de ambientes aquáticos da Amazônia brasileira. Um total de 148 isolados de V.cholerae não-O1 e não-O139 (NAGs) e O1 ambientais da Amazônia, obtidos entre 1977 e 2007, foram caracterizados e comparados a linhagens clínicas de V.cholerae O1 da sexta e sétima pandemias. Utilizou-se os perfis de macrorestrição definidos em eletroforese em gel de agarose em campo pulsado (PFGE), para determinar a relação clonal entre V.cholerae non-O1 e O1 ambientais e clínicos. A presença de genes de virulência (hlyA/hem, hlyB, hlyC, rtxA, rtxC, tcp, ctx, zot, ace, stn/sto) e integrons de classe 1, 2 e 3 (intI 1, 2 e 3), foi analisada utilizando-se a reação em cadeia da polimerase. A análise dos perfis de macrorestrição revelou que os NAGs apresentaram uma grande diversidade genética comparada aos V.cholerae O1. Isolados de NAGs e O1 segregaram em distintos grupos e a maioria dos O1 ambientais apresentou relação clonal com isolados clínicos da sétima pandemia de cólera. A distribuição dos genes de virulência entre os NAGs é diferente a dos O1, os quais, em geral, foram positivos para todos os genes de virulência estudados exceto stn/sto e integrons de classe 1, 2 e 3. Alguns V.cholerae O1 ambientais pertencentes a linhagem da sétima pandemia, apresentaram uma extensiva perda de genes. Diferentes NAGs foram stn/sto+ e intI 1+. Dois alelos do gene aadA foram encontrados: aadA2 e aadA7. De modo interessante os V.cholerae O1 ambientais pertencentes à linhagem pandêmica, só foram isolados durante o período da última epidemia de cólera na região Amazônica brasileira (1991-1996).
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Pacientes portadores de Distúrbios da Diferenciação Sexual (DDS) apresentam maior risco de desenvolver neoplasias. As alterações neoplásicas mais frequentes nestes pacientes são: o gonadoblastoma, o carcinoma in situ/tumores de células germinativas intra-tubulares não classificados. As células germinativas tipo II são as percussoras destas lesões na maioria dos casos. O gonadoblastoma é uma neoplasia benigna que não metastiza, mas pela alta prevalência e risco de evolução para as formas malignas de neoplasias gonadais, merece especial atenção. Em uma região próxima ao centrômero no braço curto do cromossomo Y, foi mapeado o gene TSPY, imputado como o gene do gonadoblastoma. Este gene expressa-se em grande quantidade nas células que constituem o gonadoblastoma. Foram avaliados 47 pacientes com DDS nos seus cariótipos e na pesquisa da prevalência do TSPY através da técnica da reação em cadeia de polimerase (PCR). As análises revelaram que 50% das pacientes com síndrome de Turner, mesmo sem o cromossomo Y, íntegro ou não, evidente no cariótipo, foram positivas para a presença do gene TSPY. Estes dados evidenciam a importância da investigação do referido gene no acompanhamento e orientação de gonadectomia em pacientes com DDS.
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O sistema de águas subterrâneas vigentes na cidade de Manaus (AM) é pertencente ao Aqüífero Alter do Chão, o qual é caracterizado por fácies sedimentares arenosa, argilosa, areno-argilosa e “Arenito Manaus” depositadas em ambiente fluvial e flúvio-deltáico. Estima-se que 32.500 km3 de água possam ser explorados, fornecendo poços confinados a semiconfinados com vazão de até 300 m3/h em poços de aproximadamente 220 m de profundidade. Grandes distorções, contudo, têm sido notadas, Manaus, em foco neste trabalho, tem poços com baixo rendimento (de 78 m3/h), devido à má colocação de filtros em conseqüência da falta de informações sobre os aqüíferos. Através do uso integrado de perfilagem geofísica de poço (perfis de raio gama, de potencial espontâneo e de resistência elétrica), sondagem elétrica vertical e informações litológicas de amostragem de calha, mapearam-se camadas litológicas permo-porosas com elevado potencial aqüífero nas zonas norte e leste da cidade de Manaus. Foram identificadas duas zonas aqüíferas. A primeira zona é marcada pelos 50 m iniciais de profundidade. Nesta zona distinguem-se três tipos de litologias: argilosa, arenosa e areno-argilosa com as mais variadas dimensões. Estas duas últimas litologias apresentam elevado potencial aqüífero. Mesmo assim, nesta zona não há tendência a conter um volume de água considerável, devido à limitada continuidade lateral dos corpos arenosos e estar sujeita aos estorvos antrópicos superficiais. Portanto, não indicada para explotação de água em grandes quantidades. A segunda zona se estende a partir dos 50 m até aproximadamente 290 m de profundidade. É caracterizada por dois tipos de litologias: arenosa e areno-argilosa. Ao contrário da primeira, a esta profundidade há propensão do armazenamento e exploração de água. Apresenta litologias com elevado potencial aqüífero, cujos corpos arenosos são mais espessos e possuem uma maior continuidade lateral que os da zona 1; e valores da veza o de quase 300 m3/h. Serve, então, para abastecimento público por causa das boas vazões, garantia de água de boa qualidade protegida de ações antrópicas. A análise feita quanto à variação lateral, em mapas, de resistência transversal e condutância longitudinal, revelou que nas porções inferiores a 50 m de profundidade os setores NE e SW correspondem às zonas permeáveis. Portanto, possuem menos faixas argilosas, sendo considerados os setores mais transmissivos do sistema aqüífero. Os poços com profundidade maiores que 50 m recomenda-se sua locações nas faixas NNW, SW e extremo sul, em virtude dos resultados obtidos através da perfilagens geofísicas de poços, as quais delineiam camadas permo-porosas de elevado potencial aquífero para a área estudada.
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INTRODUÇÃO: Salmonella Typhi é o agente da febre tifóide (doença caracterizada por febre, cefaléia, mialgia, artralgia, diarréia ou constipação), cujo quadro pode se complicar e levar o paciente a óbito. No Brasil, a febre tifóide é endêmica nas regiões Norte e Nordeste, com surtos ocorridos nos meses de intenso calor. OBJETIVO: Analisar e comparar a variabilidade genética de S. Typhi isoladas de surto e casos esporádicos de febre tifóide ocorridos em determinado período na cidade de Belém (PA). MATERIAL E MÉTODOS: Foram analisadas 20 amostras de S. Typhi: 10 isoladas de um surto ocorrido no bairro do Guamá, Belém, entre os meses de dezembro/2005 e março/2006, e 10 de casos esporádicos ocorridos em diferentes localidades da mesma cidade e no mesmo período do surto. A caracterização genética foi realizada pela análise do perfil de macrorrestrição obtido pela enzima XbaI e definido por eletroforese em gel de campo pulsado (PFGE). RESULTADOS: A análise de XbaI-PFGE das amostras estudadas demonstrou uma similaridade genética de 83% a 100%. CONCLUSÃO: Este estudo pôde demonstrar a relação clonal das amostras S. Typhi causadoras de surto e de casos esporádicos de febre tifóide ocorridos na cidade de Belém no período de dezembro/2005 a março/2006.
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Periodontitis has been associated with rheumatoid arthritis. In experimental arthritis, concomitant periodontitis caused by oral infection with Porphyromonas gingivalis enhances articular bone loss. The aim of this study was to investigate how lipopolysaccharide (LPS) from P. gingivalis stimulates bone resorption. The effects by LPS P. gingivalis and four other TLR2 ligands on bone resorption, osteoclast formation, and gene expression in wild type and Tlr2-deficient mice were assessed in ex vivo cultures of mouse parietal bones and in an in vivo model in which TLR2 agonists were injected subcutaneously over the skull bones. LPS P. gingivalis stimulated mineral release and matrix degradation in the parietal bone organ cultures by increasing differentiation and formation of mature osteoclasts, a response dependent on increased RANKL (receptor activator of NF-κB ligand). LPS P. gingivalis stimulated RANKL in parietal osteoblasts dependent on the presence of TLR2 and through a MyD88 and NF-κB-mediated mechanism. Similarly, the TLR2 agonists HKLM, FSL1, Pam2, and Pam3 stimulated RANKL in osteoblasts and parietal bone resorption. LPS P. gingivalis and Pam2 robustly enhanced osteoclast formation in periosteal/endosteal cell cultures by increasing RANKL. LPS P. gingivalis and Pam2 also up-regulated RANKL and osteoclastic genes in vivo, resulting in an increased number of periosteal osteoclasts and immense bone loss in wild type mice but not in Tlr2-deficient mice. These data demonstrate that LPS P. gingivalis stimulates periosteal osteoclast formation and bone resorption by stimulating RANKL in osteoblasts via TLR2. This effect might be important for periodontal bone loss and for the enhanced bone loss seen in rheumatoid arthritis patients with concomitant periodontal disease.
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The Banks Presbyterian Church History is a history written by Mrs. Lena P. Kell entitled “The Early History of Banks Presbyterian Church” describing the history of the church from 1870s to 1947. The church is located in Waxhaw, North Carolina near Fort Mill. (Photocopies)
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An increasing volume of publications has addressed the role of tectonics in inland areas of northern Brazil during the Neogene and Quaternary, despite its location in a passive margin. Hence, northern South America plate in this time interval might have not been as passive as usually regarded. This proposal needs further support, particularly including field data. In this work, we applied an integrated approach to reveal tectonic structures in Miocene and late Quaternary strata in a coastal area of the Amazonas lowland. The investigation, undertaken in Marajo Island, mouth of the Amazonas River, consisted of shallow sub-surface geophysical data including vertical electric sounding and ground penetrating radar. These methods were combined with morphostructural analysis and sedimentological/stratigraphic data from shallow cores and a few outcrops. The results revealed two stratigraphic units, a lower one with Miocene age, and an upper one of Late Pleistocene-Holocene age. An abundance of faults and folds were recorded in the Miocene deposits and, to a minor extent, in overlying Late Pleistocene-Holocene strata. In addition to characterize these structures, we discuss their origin, considering three potential mechanisms: Andean tectonics, gravity tectonics related to sediment loading in the Amazon Fan, and rifting at the continental margin. Amongst these hypotheses, the most likely is that the faults and folds recorded in Marajo Island reflect tectonics associated with the history of continental rifting that gave rise to the South Atlantic Ocean. This study supports sediment deposition influenced by transpression and transtension associated with strike-slip divergence along the northern Equatorial Brazilian margin in the Miocene and Late Pleistocene-Holocene. This work records tectonic evidence only for the uppermost few ten of meters of this sedimentary succession. However, available geological data indicate a thickness of up to 6 km, which is remarkably thick for an area regarded as a passive margin. (C) 2012 Elsevier Ltd. All rights reserved.
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The 3rd Schizophrenia International Research Society Conference was held in Florence, Italy, April 14-18, 2012 and this year had as its emphasis, "The Globalization of Research". Student travel awardees served as rapporteurs for each oral session and focused their summaries on the most significant findings that emerged and the discussions that followed. The following report is a composite of these summaries. We hope that it will provide an overview for those who were present, but could not participate in all sessions, and those who did not have the opportunity to attend, but who would be interested in an update on current investigations ongoing in the field of schizophrenia research. (C) 2012 Elsevier B.V. All rights reserved.
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Background: The association between suicidal behavior and quality of life (QoL) in bipolar disorder (BD) is poorly understood. Worse QoL has been associated with suicide attempts and suicidal ideation in schizophrenic patients, but this relationship has not been investigated in BD. This study tested whether a history of suicide attempts was associated with poor QoL in a well-characterized sample of patients with BD, as has been observed in other psychiatric disorders and in the general population. Methods: One hundred eight patients with Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition BD type I (44 with previous suicide attempts, 64 without previous suicide attempts) were studied. Quality of life was assessed using the World Health Organization's Quality of Life Instrument Short Version. Depressive and manic symptoms were assessed using the Hamilton Depression Rating Scale-17 items and the Young Mania Rating Scale. Results: Patients with BD and previous suicide attempts had significantly lower scores in all the 4 domains of the World Health Organization's Quality of Life Instrument Short Version scale than did patients with BD but no previous suicide attempts (physical domain P=.001; psychological domain P <.0001; social domain P=.001, and environmental domain P=.039). In the euthymic subgroup (n=70), patients with previous suicide attempts had significantly lower scores only in the psychological and social domains (P=.020 and P=.004). Limitations: This was a cross-sectional study, and no causal associations can be assumed. Conclusions: Patients with BD and a history of previous suicide attempts seem to have a worse QoL than did patients who never attempted suicide. Poorer QoL might be a marker of poor copying skills and inadequate social support and be a risk factor for suicidal behavior in BD. Alternatively, poorer QoL and suicidal behavior might be different expressions of more severe BD. (C) 2012 Elsevier Inc. All rights reserved.
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CD40 ligand (CD40L) deficiency or X-linked hyper-IgM syndrome (X-HIGM) is a well-described primary immunodeficiency in which Pneumocystis jiroveci pneumonia is a common clinical feature. We have identified an unusual high incidence of fungal infections and other not yet described infections in a cohort of 11 X-HIGM patients from nine unrelated Brazilian families. Among these, we describe the first case of paracoccidioidomycosis (PCM) in X-HIGM. The molecular genetic analysis of CD40L was performed by gene sequencing and evaluation of CD40L protein expression. Nine of these 11 patients (82%) had fungal infections. These included fungal species common to CD40L deficiency (P. jiroveci and Candida albicans) as well as Paracoccidioides brasiliensis. One patient presented with PCM at age 11 years and is now doing well at 18 years of age. Additionally, one patient presented with a simultaneous infection with Klebsiella and Acinetobacter, and one with condyloma caused by human papilloma virus. Molecular analysis revealed four previously described CD40L mutations, two novel missense mutations (c.433 T>G and c.476 G>C) resulting in the absence of CD40L protein expression by activated CD4(+) cells and one novel insertion (c.484_485insAA) within the TNFH domain leading to a frame shift and premature stop codon. These observations demonstrated that the susceptibility to fungal infections in X-HIGM extends beyond those typically associated with X-HIGM (P. jiroveci and C. albicans) and that these patients need to be monitored for those pathogens.
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Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
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Abstract Background Many important toxins and antibiotics are produced by non-ribosomal biosynthetic pathways. Microcystins are a chemically diverse family of potent peptide toxins and the end-products of a hybrid NRPS and PKS secondary metabolic pathway. They are produced by a variety of cyanobacteria and are responsible for the poisoning of humans as well as the deaths of wild and domestic animals around the world. The chemical diversity of the microcystin family is attributed to a number of genetic events that have resulted in the diversification of the pathway for microcystin assembly. Results Here, we show that independent evolutionary events affecting the substrate specificity of the microcystin biosynthetic pathway have resulted in convergence on a rare [D-Leu1] microcystin-LR chemical variant. We detected this rare microcystin variant from strains of the distantly related genera Microcystis, Nostoc, and Phormidium. Phylogenetic analysis performed using sequences of the catalytic domains within the mcy gene cluster demonstrated a clear recombination pattern in the adenylation domain phylogenetic tree. We found evidence for conversion of the gene encoding the McyA2 adenylation domain in strains of the genera Nostoc and Phormidium. However, point mutations affecting the substrate-binding sequence motifs of the McyA2 adenylation domain were associated with the change in substrate specificity in two strains of Microcystis. In addition to the main [D-Leu1] microcystin-LR variant, these two strains produced a new microcystin that was identified as [Met1] microcystin-LR. Conclusions Phylogenetic analysis demonstrated that both point mutations and gene conversion result in functional mcy gene clusters that produce the same rare [D-Leu1] variant of microcystin in strains of the genera Microcystis, Nostoc, and Phormidium. Engineering pathways to produce recombinant non-ribosomal peptides could provide new natural products or increase the activity of known compounds. Our results suggest that the replacement of entire adenylation domains could be a more successful strategy to obtain higher specificity in the modification of the non-ribosomal peptides than point mutations.