RESUMO
Osteogenesis imperfecta (OI) is a genetic disease characterized by bone deformities and fractures. Most cases are caused by autosomal dominant mutations in the type I collagen genes COL1A1 and COL1A2; however, an increasing number of recessive mutations in other genes have been reported. The LEPRE1, CRTAP, and PPIB genes encode proteins that form the P3H1/CRTAP/CypB complex, which is responsible for posttranslational modifications of type I collagen. In general, mutations in these genes lead to severe and lethal phenotypes of recessive OI. Here, we describe sixteen genetic variations detected in LEPRE1, CRTAP, and PPIB from 25 Brazilian patients with OI. Samples were screened for mutations on single-strand conformation polymorphism gels and variants were determined by automated sequencing. Seven variants were detected in patients but were absent in control samples. LEPRE1 contained the highest number of variants, including the previously described West African allele (c.1080+1G>T) found in one patient with severe OI as well as a previously undescribed p.Trp675Leu change that is predicted to be disease causing. In CRTAP, one patient carried the c.558A>G homozygous mutation, predicted as disease causing through alteration of a splice site. Genetic variations detected in the PPIB gene are probably not pathogenic due to their localization or because of their synonymous effect. This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP, and PPIB genes. In addition, the results strengthen the proposition that LEPRE1 should be the first gene analyzed in mutation detection studies in patients with recessive OI.
Assuntos
Ciclofilinas/genética , Proteínas da Matriz Extracelular/genética , Genes Recessivos , Glicoproteínas de Membrana/genética , Mutação , Osteogênese Imperfeita/genética , Proteoglicanas/genética , Alelos , Colágeno Tipo I/metabolismo , Ciclofilinas/metabolismo , Análise Mutacional de DNA , Éxons , Proteínas da Matriz Extracelular/metabolismo , Frequência do Gene , Genótipo , Humanos , Íntrons , Glicoproteínas de Membrana/metabolismo , Chaperonas Moleculares , Complexos Multiproteicos , Osteogênese Imperfeita/metabolismo , Prolil Hidroxilases , Ligação Proteica , Processamento de Proteína Pós-Traducional , Proteoglicanas/metabolismoRESUMO
Nowadays there are many sun-protection cosmetics incorporating chemical and/or physical UV filters as active ingredients and there are no official methods to determine these kinds of compounds in sunscreen cosmetics. The objective of this work is to estimate TiO(2) concentration, without sample preparation, employing a portable energy dispersive X-ray fluorescence (EDXRF), aiming to estimate the sun protection factor (SPF) due to the physical barrier in sunscreen composition, and also identify the metals present in the samples. A portable EDXRF system was used for the analysis of fifteen commercial samples. It was also prepared three formulations estimated in FPS-30 using TiO(2) at 5%. Quantification was performed using calibration curves with standards from 1 to 30%. The physical barrier contribution in the SPF, associated to Ti concentration, was determined for all samples. The presence of some elements, like K, Zn, Br and Sr was detected in the sunscreen, identifying chemical elements that were not cited in the formulations. Three commercial samples were analyzed for total SPF determination and the result shows that the measured value is 10% lower than the nominal one.
Assuntos
Protetores Solares/química , Titânio/análise , Calibragem , Fluorescência , Espectrofotometria Ultravioleta , Raios XRESUMO
The cardiovascular activity of the aqueous fraction of the hydroalcoholic extract of Sida cordifolia leaves (AFSC) was evaluated. In normotensive non-anaesthetized rats was observed that AFSC (5, 10, 20, 30 and 40 mg/kg, i.v.) induced hypotension (6 +/- 2%; 8 +/- 2%; 11 +/- 2%; 19 +/- 3% and 33 +/- 3%, respectively) and bradycardia (0.3 +/- 3%; 13 +/- 4%; 38 +/- 6%; 64 +/- 7% and 80 +/- 5%, respectively). Hypotensive response was completely abolished after atropine (2 mg/kg; i.v.) but potentialized after hexamethonium (20 mg/kg; i.v.) (12 +/- 2%; 21 +/- 5%; 28 +/- 3%; 32 +/- 2% and 32 +/- 3%, respectively), while bradycardic response was completely abolished after atropine (2 mg/kg; i.v.) and attenuated with hexamethonium (20 mg/kg; i.v.) (1 +/- 0.3%; 5 +/- 1%; 7 +/- 1%; 7 +/- 1% and 10 +/- 1%, respectively). In hexamethonium treated rats, L-NAME significantly attenuated the hypotensive response (9 +/- 2%; 14 +/- 1%; 16 +/- 1%; 16 +/- 2% and 22 +/- 3%, respectively). In normotensive anaesthetized and vagotomized rats, hypotensive and bradycardic responses were significantly attenuated (0.5 +/- 0.2%; 1 +/- 0.4%; 3 +/- 0.6%; 4 +/- 0.8% and 6 +/- 1%, respectively, n = 6, and 7 +/- 2%; 12 +/- 5%; 15 +/- 2%, 17 +/- 2% and 25 +/- 3%, respectively). The anaesthesia with sodium thiopental did not affect the AFSC-induced responses when compared with those induced in non-anaesthetized rats (data not showed). In conclusion, the results obtained so far show that AFSC produce hypotension and bradycardia, mainly due to a direct stimulation of the endothelial vascular muscarinic receptor and indirect cardiac muscarinic activation, respectively.
Assuntos
Pressão Sanguínea/efeitos dos fármacos , Sistema Cardiovascular/efeitos dos fármacos , Frequência Cardíaca/efeitos dos fármacos , Malvaceae/química , Extratos Vegetais/farmacologia , Folhas de Planta/química , Anestesia , Animais , Bradicardia/induzido quimicamente , Eletrocardiografia/efeitos dos fármacos , Masculino , Ratos , Ratos Wistar , VagotomiaRESUMO
Male and female rats were treated daily for 13 weeks with an ethanol extract of Cissampelos sympodialis leaves (9, 45 and 225 mg[sol ]kg). The food consumption, body weight and behavioural effects in the open-field test were evaluated by weekly monitoring. The results showed that the extract chronic treatment in female rats (45 and 225 mg[sol ]kg) reduced significantly the food intake and the body weight, and produced several alterations in the open-field test. These findings indicate that repeated oral administration of the extract may produce a sex-dependent difference in anoretic and behavioural effects.
Assuntos
Antidepressivos/farmacologia , Cissampelos , Fitoterapia , Extratos Vegetais/farmacologia , Administração Oral , Animais , Antidepressivos/administração & dosagem , Antidepressivos/uso terapêutico , Comportamento Animal/efeitos dos fármacos , Relação Dose-Resposta a Droga , Esquema de Medicação , Ingestão de Alimentos/efeitos dos fármacos , Feminino , Masculino , Extratos Vegetais/administração & dosagem , Extratos Vegetais/uso terapêutico , Folhas de Planta , Ratos , Ratos WistarRESUMO
The bronchodilator activity of an aqueous fraction (AF) of a 70% hydroalcoholic extract of the leaves of Cissampelos sympodialis Eichl. was evaluated in the guinea-pig. The AF inhibited the spontaneous tone of the trachea (IC(50), 13.9 µg/ml), which was potentiated (IC(50), 4.6 µg/ml) by 3-isobutyl-l-methylxanthine, blocked by ß(2) adrenoceptor blocking agent timolol, but unaffected by removal of epithelium or addition of NG-Nitro-L-arginine methyl ester or methylene blue. The AF also antagonized contractions induced by carbachol, capsaicin and arachidonic acid in normal trachea and by ovalbumin in trachea obtained from sensitized guinea-pigs. The IC(50)-values in these experiments varied from 34.1-70.5 µg/ml. Further, the AF (100 mg/kg) by the more effective i.p. route increased the preconvulsive time of animals exposed to an aerosol of histamine to 63.5 ± 5 s 1 h after administration compared to 28 ± 1 s in the untreated group. In addition, the AF at 100 mg/kg i.p. or i.G. protected the sensitized guinea-pigs against anaphylactic shock induced by ovalbumin aerosol by 78.6 and 86.7% respectively.
RESUMO
The effect of soya bean oil deodorizing (SODD) on sugar cane juice fermentation in batch culture by zymomonas mobilis CP4 and Saccharomyces cerevisiae has beens investigated. At 15 per cent (w/v) total reducing sugars and no SODD added, the sugars were not fully metabolized as the results for Zymomonas and Saccharomyces were respectively: conversion efficiency 22.4 per cent and 12,2 per cent; maximum specific groth rate 0,20 h-1 and 0,21 h-1 whereas the biomass formed by the bacteria was about half that formed by the yeast as growth yield was 0,011 for Zymomonas and 0,026 for Saccharomyces. However, when cane juice was added with SODD 0,01 per cent(v/v) the sugars were more efficiency utilised as the results for Zymomonas and Saccharomyces raised respectively: 41,2 per cent and 17,6 per cent which are 84 per cent and 45 per cent higher as cane juice was used without SODD; 0,19 per cent and 0,21 per cent h-1, and Yx/s for zymomonas lowered to 0,008 and Saccharomyces increased to 0,044(AB)
Assuntos
Desodorização , Etanol , Fermentação , Saccharomyces cerevisiae , Óleo de Soja , ZymomonasRESUMO
Report of a multidisciplinary study of patients affected with tuberous sclerosis, 8 of them males and 7 females, with ages ranging from 19 months to 23 years; 11 of these cases were sporadic, while the remaining 4 cases lacked information regarding family data. The following skin signs were observed: Pringle's adenoma in 9 cases; achromatic spots in 9 cases; periungueal fibroma in 3 cases. One of the patients had a heart tumor. Two patients had borderline intelligence, while the other 13 were mentally retarded of varying degrees. Epileptic seizures were present in 13 patients, atypical absence and tonus crises were frequent. Three of the patients had had infantile spasms in the first year of life as the first neurological symptom of the disease. Computer assisted axial tomography was performed in 7 cases and was positive in all of them, by revealing intracranial calcifications even in 4 cases in which the standard X-ray pictures had been silent about this eventuality.
Assuntos
Esclerose Tuberosa , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnósticoRESUMO
Sao apresentados os resultados de estudo multidisciplinar de 15 pacientes con esclerose tuberosa, 8 do sexo masculino e 7 do sexo feminino, com idades entre 19 meses e 23 anos; 11 foram considerados como casos esporadicos e, em 4, nao foi possivel precisar os antecedentes familiares.Foram observadas as seguintes manifestacoes cutaneas: adenoma de Pringle em 9 casos; manchas acromicas em 9 casos; fibroma periungueal em 3 casos. Dos 15 casos 13 apresentaram D.M., deficiencia mental, enquanto os outros 2 tinham inteligencia limitrofe. Com excecao de 2 pacientes, todos tinham crises epilepticas e os tipos de crises mais frequentemente observados foram as ausencias atipicas e as crises tonicas. Espasmos infantis estavam presentes em 3 casos e em apenas um caso o eletrencefalograma apresentou aspecto hipsarritmico. A tomografia axial computadorizada, realizada em 7 casos, revelou calcificacoes periventriculares em todos, mesmo naqueles que apresentaram RX simples de cranio normal (4 casos)