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| Registros recuperados: 4.682 | |
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| Batissoco,A.C.; Auricchio,M.T.B.M.; Kimura,L.; Tabith-Junior,A.; Mingroni-Netto,R.C.. |
| Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing impairment. Their father, who carried a wild-type allele and a p.L76P mutation, had normal hearing. The mutation leads to the substitution of leucine (L) by proline (P) at residue 76, an evolutionarily conserved position in Cx26 as well as in other connexins. This mutation is predicted to affect the first extracellular domain (EC1) or the second transmembrane domain (TM2). EC1 is important for... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: GJB2 gene Connexin 26 Hearing impairment p.L76P c.227C>; T. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000200004 |
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| Nephrogenic diabetes insipidus (NDI) is a rare disease characterized by renal inability to respond properly to arginine vasopressin due to mutations in the vasopressin type 2 receptor (V2(R)) gene in affected kindreds. In most kindreds thus far reported, the mode of inheritance follows an X chromosome-linked recessive pattern although autosomal-dominant and autosomal-recessive modes of inheritance have also been described. Studies demonstrating mutations in the V2(R) gene in affected kindreds that modify the receptor structure, resulting in a dys- or nonfunctional receptor have been described, but phenotypically indistinguishable NDI patients with a structurally normal V2(R) gene have also been reported. In the present study, we analyzed exon 3 of the... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Vasopressin; Receptor; Polymorphism; Diabetes insipidus; Receptor gene polymorphism. |
| Ano: 1997 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1997000400002 |
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| Henz,Gilmar P.; Lopes,Carlos A.; Reis,Ailton. |
| Okra pods with unusual brown lesions and rot were collected in a local supermarket in Brasília DF. The objective of this paper was to characterize the causal agent, to fulfill Koch's postulates and to determine some conditions conducive to disease. The pathogen was identified as Rhizoctonia solani based on morphological characteristics which fitted the fungus description, such as pale to brown hyphae, with nearly right-angled side branches constricted at the base, hyphal cells 6-10 µm wide with a septum near the base. Five isolates were obtained from infected pods and identified as AG 1-IB anastomosis group. Wounded or unwounded okra pods cv. Santa Cruz 47 were inoculated with mycelium disks of R. solani and kept in humid chambers at 12 ºC or 25 ºC. After... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Abelmoschus esculentus; Immature fruit; Disease. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-41582007000300008 |
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| Liu,Xiao Lei; Liu,Su Lin; Liu,Min; Kong,Bi He; Liu,Lei; Li,Yan Hong. |
| Investigating the endophytic bacterial community in special moss species is fundamental to understanding the microbial-plant interactions and discovering the bacteria with stresses tolerance. Thus, the community structure of endophytic bacteria in the xerophilous moss Grimmia montana were estimated using a 16S rDNA library and traditional cultivation methods. In total, 212 sequences derived from the 16S rDNA library were used to assess the bacterial diversity. Sequence alignment showed that the endophytes were assigned to 54 genera in 4 phyla (Proteobacteria, Firmicutes, Actinobacteria and Cytophaga/Flexibacter/Bacteroids). Of them, the dominant phyla were Proteobacteria (45.9%) and Firmicutes (27.6%), the most abundant genera included Acinetobacter,... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Bacterial diversity; Endophytes; Moss; Molecular method; Cultivated isolates. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822014000100022 |
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| Lanzieri,Tatiana M.; Cunha,Clóvis Arns da; Cunha,Rejane B.; Arguello,D. Fermin; Devadiga,Raghavendra; Sanchez,Nervo; Barria,Eduardo Ortega. |
| Abstract Objectives: To estimate acute otitis media incidence among young children and impact on quality of life of parents/caregivers in a southern Brazilian city. Methods: Prospective cohort study including children 0-5 years of age registered at a private pediatric practice. Acute otitis media episodes diagnosed by a pediatrician and impact on quality of life of parents/caregivers were assessed during a 12-month follow-up. Results: During September 2008-March 2010, of 1,136 children enrolled in the study, 1074 (95%) were followed: 55.0% were ≤2 years of age, 52.3% males, 94.7% white, and 69.2% had previously received pneumococcal vaccine in private clinics. Acute otitis media incidence per 1000 person-years was 95.7 (95% confidence interval:... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Acute otitis media; Children; Incidence; Quality of life. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702017000400468 |
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| Prokopp,C.R.; Rubin,M.A.; Sauzem,P.D.; de Souza,A.H.; Berlese,D.B.; Lourega,R.V.; Muniz,M.N.; Bonacorso,H.G.; Zanatta,N.; Martins,M.A.P.; Mello,C.F.. |
| The present study investigates the antinociceptive effect of the pyrazolyl-thiazole derivative 2-(5-trichloromethyl-5-hydroxy-3-phenyl-4,5-dihydro-1 H-pyrazol-1-yl)-4-(4-bromophenyl)-5-methylthiazole (B50) in mice. Male albino Swiss mice (30-40 g) were used in the acetic acid-induced abdominal writhes and tail-immersion tests. B50 caused dose-dependent antinociception (8, 23 and 80 µmol/kg, sc) in the acetic acid writhing assay (number of writhes: vehicle: 27.69 ± 6.15; B50 (8 µmol/kg): 16.92 ± 3.84; B50 (23 µmol/kg): 13.85 ± 3.84; B50 (80 µmol/kg): 9.54 ± 3.08; data are reported as means ± SEM for 9 animals per group). On the other hand, B50 did not cause antinociception in the tail immersion assay. Naloxone (2.75 µmol/kg, sc) prevented B50-induced... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Antinociception; Pyrazolyl-thiazole derivatives; Writhing test; Opioid mechanism; Naloxone. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000600013 |
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| Campos,Mireille Guimarães Vaz de; Chauffaille,Maria de Lourdes L. Ferrari; Rodrigues,Celso Arrais; Krum,Everson A.; Yamamoto,Mihoko. |
| The Philadelphia chromosome is observed in 5% of pediatric acute lymphocytic leukemia (ALL) and in 25% to 50% of adult ALL cases, and is associated with poor prognosis. Double Ph in a hyperdiploid karyotype is common in chronic myeloid leukemia (CML), but rarely found in ALL. We report here the case of a girl diagnosed with ALL at 7 years of age. After treatment with the pediatric protocol BFM 83 for ALL, she stayed in continuous complete remission for nine years. At age 19, she was re-admitted with a white blood cell count of 6.8 x 10(9)/L with 3% blasts, and a platelet count of 65 x 109/L. Bone marrow aspirate showed 92.6% lymphoid blast cells, and chromosome analysis after G-banding revealed the karyotype... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Relapsed acute lymphocytic leukemia; Double Philadelphia chromosome. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000300006 |
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| Registros recuperados: 4.682 | |
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