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| Registros recuperados: 28 | |
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| Rodriguez,David Enrique Aguilar; Lima,Carmen Silvia Passos; Lourenço,Gustavo Jacob; Figueiredo,Maria Estela; Carneiro,Jorge David Aivazoglu; Tone,Luiz Gonzaga; Llerena Jr.,Juan Clinton; Toscano,Raquel Alves; Brandalise,Silvia; Pinto Júnior,Walter; Costa,Fernando Ferreira; Bertuzzo,Carmen Sílvia. |
| Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD: 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black) was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790) and FANCC (delta322G, IVS4+4A -> T,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fanconi anaemia; DEB test; Molecular diagnosis; FANCA; FANCC. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200004 |
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| Bonatto,Naieli; Nogaroto,Viviane; Svidnicki,Paulo V.; Milléo,Fábio Q.; Grassiolli,Sabrina; Almeida,Mara C.; Vicari,Marcelo R.; Artoni,Roberto F.. |
| Maturity Onset Diabetes of the Young (MODY) presents monogenic inheritance and mutation factors which have already been identified in six different genes. Given the wide molecular variation present in the hepatocyte nuclear factor-1α gene (HNF1α) MODY3, the aimof this study was to amplify and sequence the coding regions of this gene in seven patients from the Campos Gerais region, Paraná State, Brazil, presenting clinical MODY3 features. Besides the synonymous variations, A15A, L17L, Q141Q, G288G and T515T, two missense mutations, I27L and A98V, were also detected. Clinical and laboratory data obtained from patients were compared with the molecular findings, including the I27L polymorphism that was revealed in some overweight/obese diabetic patients of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: MODY3; Molecular diagnosis; Diabetes mellitus; Nucleotide sequencing. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500005 |
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| Crego-vicente, Beatriz; Fernández-soto, Pedro; Febrer-sendra, Begoña; García-bernalt Diego, Juan; Boissier, Jérôme; Angora, Etienne K.; Oleaga, Ana; Muro, Antonio. |
| Schistosomiasis is a disease of great medical and veterinary importance in tropical and subtropical regions caused by different species of parasitic flatworms of the genus Schistosoma. The emergence of natural hybrids of schistosomes indicate the risk of possible infection to humans and their zoonotic potential, specifically for Schistosoma haematobium and S. bovis. Hybrid schistosomes have the potential to replace existing species, generate new resistances, pathologies and extending host ranges. Hybrids may also confuse the serological, molecular and parasitological diagnosis. Currently, LAMP technology based on detection of nucleic acids is used for detection of many agents, including schistosomes. Here, we evaluate our previously developed... |
| Tipo: Text |
Palavras-chave: LAMP; Schistosomiasis; Schistosome hybrids; Schistosoma haematobium; Schistosoma bovis; Molecular diagnosis; Species-specific LAMP; Genus-specific LAMP. |
| Ano: 2021 |
URL: https://archimer.ifremer.fr/doc/00686/79840/82659.pdf |
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| Elgharsalli, Refka; Aloui-bejaoui, Nejla; Sala, Hedi; Chollet, Bruno; Joly, Jean-pierre; Robert, Maeva; Couraleau, Yann; Arzul, Isabelle. |
| Marteilia refringens is a protozoan parasite recognized as a significant pathogen of the European flat oyster Ostrea edulis. The life cycle of this species is still poorly known, although there is evidence of the need for intermediate host(s). In the present study, we have used molecular approaches to identify this parasite in samples of the dwarf oyster Ostrea stentina after reports of massive mortality along the Tunisian coasts. In 2009 we evaluated the status of O. stentina from Monastir and checked if there was an infection with M. refringens, using polymerase chain reaction assays. Of the 103 tested O. stentina, 85 were PCRpositive using a Marteilia genus-specific assay. Additional assays were subsequently carried out on some samples collected in 2010... |
| Tipo: Text |
Palavras-chave: Marteilia refringens; Molecular diagnosis; IGS; ITS; Transmission electron microscopy; Ostrea stentina. |
| Ano: 2013 |
URL: http://archimer.ifremer.fr/doc/00124/23538/21422.pdf |
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| Furian,TQ; Borges,KA; Pilatti,RM; Almeida,C; Nascimento,VP do; Salle,CTP; Moraes,HL de S. |
| The ability of Pasteurella multocida to invade and multiply in its host is enhanced by the presence of the capsule, one of the most important virulence factors for this bacterium. Capsular typing methods are often used in epidemiological and pathogenesis studies of this agent. Five different serogroups have been identified based on serological typing. However, such tests are laborious, and agglutination of homologous antiserum may fail. The aim of this study was to develop a multiplex PCR protocol for the identification of the hyaD-hyaC and dcbF genes specific to serogroups A and D, respectively, and to compare these results with those of phenotypic tests for 54 strains isolated from fowl cholera cases in southern Brazil. The kappa coefficient and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Molecular diagnosis; Non-serologic tests; Pasteurellosis; Serogroup. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-635X2014000200004 |
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| Galicia-García,Porfirio Raúl; Silva-Rojas,Hilda Victoria; Mendoza-Onofre,Leopoldo Ernesto; Zavaleta-Mancera,Hilda Araceli; Córdova-Téllez,Leobigildo; Espinosa-Calderón,Alejandro. |
| ABSTRACT Ustilago maydis is a basidiomycete known as the causative agent of 'common smut', worldwide disease of maize that is recognized by the galls it forms, which have considerable potential as a gourmet food. Results of infection are quite variable, even under optimal greenhouse conditions. In order to find pathogenic strains able to be used as a highly infective and stable inoculum for the successful production of galls either in greenhouses or in the field, ears with gall symptoms containing teliospores were recovered from maize plants. The teliospores were suspended in water and plated on nutrient-rich medium. Twenty-six colonies developed, containing three types of yeast-like colonies: saprotrophic, pathogenic, and solopathogenic. DAPI staining... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Basidiomycete; Maize galls; Mating types; Molecular diagnosis; Smut. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-33062016000400683 |
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| Cerqueira Melo, Rita de Cássia; Dorea Bragança, Carlos Augusto; Nogueira Pestana, Katia; Silva, Harllen Sandro Alves da; Ferreira, Claudia Fortes; Alves Santos de Oliveira, Saulo. |
| Modifications were made in the PCR conditions aiming to overcome the problem of non-amplification of the Xanthomonas phaseoli pv. manihotis (Xpm) fragment, using the primer pair XV / XK described in the literature. The objective of this study was to propose changes in the primers already described (XV / XK_MOD) and validate the use of these new primers in identifying Xpm. The validation procedure was carried out with the primer pair XV and XK_MOD, using different strains of Xpm, other plant pathogenic and endophytic bacteria genera and one isolate of X. phaseoli pv. passiflorae. As a control, additional reactions were conducted in multiplex with the universal primers for the 16S rRNA gene of the bacteria together with XV / XK and XV / XK_MOD. Using the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Xpm; Cassava bacterial blight; Molecular diagnosis; Resistance. |
| Ano: 2019 |
URL: http://periodicos.uem.br/ojs/index.php/ActaSciAgron/article/view/42708 |
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| Costa,R.L.; Vitari,G.L.V.; Silva,C.B.; Peckle,M.P.; Pires,M.S.; Brandolini,S.V.P.B.; Pinheiro,J.; Massard,C.L.; Santos,H.A.. |
| ABSTRACT In Brazil, some studies have indicated that Neorickettsia risticii circulates in horses, but it is unclear which are the possible intermediate vectors of this bacterium in the country. The aim of this study was to use molecular techniques in order to analyze the presence of N. risticii in snails and larval stages of trematodes in farms in a region with a history of seroreactive horses towards this bacterium, in Rio de Janeiro, Brazil. Convenience sampling was used in the studied region. The collected snails were exposed to incandescent light (60W) for 2-4 hours in order to investigate trematodes in larval forms. Deoxyribonucleic acid (DNA) was extracted from snail tissue and trematode. Real-time PCR (qPCR) technique was used to investigate the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Equine neorickettsiosis; Molecular diagnosis; QPCR; Intermediate hosts. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352016000601470 |
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| Thomaz-Soccol,Andréa; Mocellin,Marcos; Mulinari,Fabiane; Castro,Edilene Alcântara de; Queiroz-Telles,Flávio de; Alcântara,Fernanda de Souza; Bavaresco,Marcello Tortelli; Hennig,Luciane; Andraus,Anielo; Luz,Ennio; Thomaz-Soccol,Vanete. |
| The aim of the present work was to study the clinical aspects and relevance of molecular diagnosis in late mucocutaneous leishmaniasis patients in Parana, Brazil. Twenty one suspected cases of mucocutaneous leishmaniasis (MCL) in patients from the endemic areas of leishmaniasis were assessed. Different methods used in diagnosing the disease and the polymerase chain reaction (PCR) technique were compared in order to establish the sensitivity of each method. Out of the 21 patients analyzed, 14.3% presented other etiologies such as vasculitis, syphilis, and paracoccidioidomycosis, with all tests negative for leishmaniasis. Out of the remaining 15 patients, 6.7% cases were confirmed for leishmaniasis by direct examination; 46.67% were positive for culture,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mucocutaneous leishmaniasis; Molecular diagnosis; Leishmania (Viannia) braziliensis. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132011000300008 |
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| Hung,Hung-Chang; Chan,Chi-Ho; Tsao,Shih-Ming; Chen,Shiuan-Chih; Wu,Tzu-Chin; Lu,Min-Chi; Wu,Der-Jinn; Huang,Shu-Ju; Lee,Yuan-Ti. |
| OBJECTIVE: The diagnostic efficacy of the BDProbeTEC ET Mycobacterium tuberculosis (MTB) complex direct detection assay (DTB) performed on bronchoalveolar lavage (BAL) specimens and sputum smears was compared with acid-fast bacilli (AFB) smear microscopy. METHOD: AFB smear microscopy, DTB and culture results of 286 patients with pulmonary tuberculosis were retrospectively reviewed. A total of 120 patients provided expectorated sputum samples, and 166 patients provided BAL specimens. Culture results and clinical diagnosis were used as gold standards. RESULTS: The sensitivity and specificity of the DTB assay in detecting MTB in sputum specimens was significantly higher compared to AFB smear microscopy (83.7% and 82.4%, vs. 75.6%, and 41.2%, respectively).... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Bronchoalveolar lavage; Mycobacterium tuberculosis; Acid-fast bacilli staining; Molecular diagnosis; BDProbeTEC ET system. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702012000300005 |
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| Rivera,Vanessa; Gaviria,Marcela; Muñoz-Cadavid,Cesar; Cano,Luz; Naranjo,Tonny. |
| ABSTRACT The diagnosis of cryptococcosis is usually performed based on cultures of tissue or body fluids and isolation of the fungus, but this method may require several days. Direct microscopic examination, although rapid, is relatively insensitive. Biochemical and immunodiagnostic rapid tests are also used. However, all of these methods have limitations that may hinder final diagnosis. The increasing incidence of fungal infections has focused attention on tools for rapid and accurate diagnosis using molecular biological techniques. Currently, PCR-based methods, particularly nested, multiplex and real-time PCR, provide both high sensitivity and specificity. In the present study, we evaluated a nested PCR targeting the gene encoding the ITS-1 and ITS-2... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cryptococcus neoformans/Cryptococcus gattiicomplex; Nested PCR; Cryptococcosis; Molecular diagnosis. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702015000600563 |
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| Quiles,Milene Gonçalves; Boettger,Bruno Cruz; Inoue,Fernanda Matsiko; Monteiro,Jussimara; Santos,Daniel Wagner; Ponzio,Vinicius; Carlesse,Fabianne; Cappellano,Paola; Carvalhaes,Cecilia Godoy; Pignatari,Antonio Carlos Campos. |
| ABSTRACT Bloodstream infections (BSIs) are serious infections associated with high rates of morbidity and mortality. Every hour delay in initiation of an effective antibiotic increases mortality due to sepsis by 7%. Turnaround time (TAT) for conventional blood cultures takes 48 h, forcing physicians to streamline therapy by exposing patients to broad-spectrum antimicrobials. Our objective was (1) to evaluate the accuracy and TAT of an optimized workflow combining direct matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) and in-house real-time polymerase chain reaction (PCR) for bacterial identification and antimicrobial resistance profiling directly from positive blood bottles for diagnosing bloodstream infections... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Bloodstream infections; Molecular diagnosis; Molecular panels; PCR; Mass spectrometry. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702019000300164 |
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| Cruz,Heidi Lacerda Alves da; Montenegro,Rosana de Albuquerque; Lima,Juliana Falcão de Araújo; Poroca,Diogo da Rocha; Lima,Juliana Figueirêdo da Costa; Montenegro,Lílian Maria Lapa; Crovella,Sergio; Schindler,Haiana Charifker. |
| The polymerase chain reaction (PCR) and its variations, such as the nested-PCR, have been described as promising techniques for rapid diagnosis of tuberculosis (TB). With the aim of evaluating the usefulness of a nested-PCR method on samples of blood and urine of patients suspected of tuberculosis we analyzed 192 clinical samples, using as a molecular target the insertion element IS6110 specific of M. tuberculosis genome. Nested-PCR method showed higher sensitivity in patients with extrapulmonary tuberculosis (47.8% and 52% in blood and urine) when compared to patients with the pulmonary form of the disease (sensitivity of 29% and 26.9% in blood and urine), regardless of the type of biological sample used. The nested-PCR is a rapid technique that, even if... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mycobacterium tuberculosis; Nested-PCR; Blood; Urine; Molecular diagnosis; IS6110 insertion sequence. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822011000100041 |
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| Registros recuperados: 28 | |
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