A carregar...
58 resultados
Resultados da pesquisa
A mostrar 1 - 10 de 58
- Fenilcetonúria e suas variantes: revisão bibliográficaPublication . Machado, Joana; Cardoso, Inês LopesA fenilcetonúria representa o erro do metabolismo dos aminoácidos mais comum na população caucasiana, atingindo 1/10.000 nascimentos. Esta doença, de transmissão autossómica recessiva, resulta da deficiência em fenilalanina hidroxilase ou de erros no metabolismo da tetrahidrobiopterina. O diagnóstico precoce é extremamente importante, pois dele depende o tratamento que consiste na restrição alimentar de fenilalanina e proteínas naturais. Quando não tratada pode resultar em complicações neurológicas irreversíveis. Phenylketonuria represents the most common defect of aminoacid metabolism in Caucasian population, with a prevalence of 1/10.000 births. This disease, with autossomic recessive transmission, results from phenylalanine hydroxylase deficiency or defects on tetrahydrobiopterin metabolism. The early diagnosis is extremely important, since it will influence treatment, which consists of phenylalanine and natural proteins intake restriction. If not treated, it may lead to irreversible neurological complications.
- Pathologies and clinical cases in biochemistryPublication . Cardoso, Inês Lopes; Leal, Fernanda
- Detection of Staphylococcus aureus (MRSA/MSSA) in surfaces of dental medicine equipmentPublication . Gonçalves, Eva; Carvalhal, Rui; Mesquita, Rita; Azevedo, Joana; Coelho, Maria João; Magalhães, Ricardo; Ferraz, Maria Pia; Manso, M. Conceição; Gavinha, Sandra; Pina, Cristina Maria San Román Gomes de; Cardoso, Inês LopesMethicillin-Resistant Staphylococcus aureus (MRSA) represents one of the major causes of nosocomial infections, leading to high mortality. Surfaces in clinics, as well as the attending uniform and the hands of the dental doctor can be MRSA reservoirs. Having this in mind, the purpose of this study was to evaluate the presence of Methicillin-Sensitive Staphylococcus aureus (MSSA) and MRSA on dental medicine equipment surfaces. 354 Samples were collected from six equipment surfaces in six attendance areas before and after patient consultation and cultured in a selective medium. Polymerase Chain Reaction (PCR) was used to confirm the identity of bacterial strains as MRSA or MSSA. Data analysis was performed with chi-square tests with Bonferroni correction. It was observed 55.6% of uncontaminated samples. Contamination was: 17.5% MRSA (5.9% of samples collected before patient attendance and 11.6% after); 39.3% MSSA (14.1% collected before and 25.2% after). The prevalence of MRSA and MSSA was significantly higher after patient care. Integrated Clinic represented the most contaminated attendance area (MRSA 41.7%, MSSA 51.2%), the chair arm rest was the most contaminated surface for MRSA (29.7%) and the dental spittoon the most contaminated surface for MSSA (23.5%). Although a low level of contamination was observed, dental clinics, through patients possibly carrying bacteria, may be reservoirs for MRSA and MSSA transmission, and might contribute to potential nosocomial infections.
- Treacher Collins syndrome and implications in the oral cavityPublication . Duque, C.; Cardoso, Inês LopesBackground and Objective: Treacher Collins syndrome, also called mandibula-facial dysostosis, is a congenital disorder. It is the aim of this work to clarify the etiology, diagnosis, phenotypic craniofacial and oral characteristics of the syndrome, as well as to discuss the treatments to be applied. Methods: A bibliographic search was performed using the keywords: "Treacher Collins Syndrome", "treatment", "dental", "oral cavity", "TCOF1 gene". Results: Most cases have an autosomal dominant transmission and variable expressivity. Mutations in the TCOF1 gene on chromosome 5 are usually known to cause Treacher Collins syndrome. The phenotypic craniofacial features are: micrognathia, maxillary hypoplasia with palate cleft, malar hypoplasia, antimongoloid inclination of palpebral fissures, coloboma of lower eyelid and microtia. Problems in the oral cavity are frequent in these patients because the deficiencies of the bone bases provoke crowding and can lead to incorrect bite. Other oral manifestations include reduced salivary flow, high levels of caries and plaque. Conclusions: Diagnosis and treatment should be performed in an early stage and are important for the reestablishment of masticatory, respiratory and auditory functions.
- Hyperhomocysteinemia: how does it affect the development of cardiovascular disease?Publication . Cardoso, Inês LopesHomocysteine is an amino acid with an SH group, metabolised by the remethylation and transsulfuration pathways. Several genetic and environmental factors (like deficient nutrition status, systemic disease or consumption of certain drugs), can lead to changes in the levels of plasma homocysteine. Nowadays, hyperhomocysteinemia is considered an important and independent risk factor for atherosclerosis and cardiovascular disease. Several pathological mechanisms have been proposed for the effect of hyperhomocysteinemia in the development of cardiovascular disease. Among them are DNA methylation, decreased protein S-nitrosylation, production of reactive oxidative species and decrease in nitric oxide formation. Main strategies being tested for the treatment of this condition involve supplementation of folic acid, vitamins B6, B12 or riboflavin. From these, increased plasma folic acid levels by folate-rich diet or pharmacological supplementation seems to be the most effective.
- Prevalence of antibiotic (ß-lactams, tetracycline, metronidazole, erythromycin) resistance genes in periodontic infectionsPublication . Freitas, Daniel; Gonçalves, Lara; Coelho, Maria João; Ferraz, Maria Pia; Magalhães, Ricardo; Pina, Cristina Maria San Román Gomes de; Cardoso, Inês LopesObjective: Porphyromonas gingivalis and Prevotella intermedia are thought to be pathogens in adult periodontitis. Antibiotherapy is usually needed in the treatment of periodontitis being often prescribed empirically. To allow prescription of a specific antibiotic treatment, identification of resistance genes should be performed. The aim of this study was the identification of the presence of TetM, TetQ, TEM, cfxA, MefA, ErmB and Nim resistance genes in previously identified P. intermedia and P. gingivalis isolated from samples collected from periodontal infections. Method: PCR was used for the identification of TetM, TetQ, TEM, cfxA, MefA, ErmB and Nim resistance genes in strains isolated from samples collected from periodontal infections. Results: It was seen that 8% of isolates had one of the tested tetracycline resistance genes. A total of 32% of β-lactamases resistance genes was observed in isolated strains. It was also observed that 2% of isolates had one of the analysed erythromycin resistance genes. None of the isolates showed the presence of the metronidazole resistance gene. Conclusions: Most strains harboring β-lactamase resistance genes had been previously identified as P. intermedia. No tetracycline resistance gene and a very low percentage of β-lactamase resistance genes were observed in P. gingivalis strains.
- A telomerase e a terapêutica do cancro: futuras perspectivasPublication . Pedrosa, Nuno; Cardoso, Inês Lopes; Machado, Joana QueirozOs telómeros localizam-se nas terminações dos cromossomas, sendo essenciais para a manutenção da sua integridade, prevenindo fusões terminais. Grande parte das proteínas com localização nos telómeros foram recentemente identificadas, contudo muitas das suas funções continuam por esclarecer. Mutações em genes codificantes destas proteínas causam diversas síndromes genéticas raras, caracterizadas por instabilidade genética, cromossómica e predisposição para cancro. A compreensão do funcionamento biológico do telómero, permitirá o desenvolvimento de novos métodos de diagnóstico, prevenção e terapêuticas mais eficazes para cada síndrome. Telomeres are located at chromosomes ends, having essential roles in preventing terminal fusions. Several telomeric proteins were recently identified, however most of their functions are not yet understood. Mutations at the genes encoding these proteins cause a number of rare genetic syndromes, characterized by genetic and/or chromosome instability and predisposition to cancer. The understanding of the whole mechanism of operation of telomere biology, will enable the development of new methods of diagnosis, prevention and more effective treatment for each syndrome.
- C-Reactive protein and neurodegenerative diseasesPublication . Cardoso, Inês Lopes; Leal, Fernanda
- Genetic and environmental factors involved in the development of periodontal diseasePublication . Cardoso, Inês Lopes; Nieto Medina, DanielaThe goal of this work was to make a search on the genetic and environmental factors involved in the development of periodontal disease, in order to have a better understanding and therefore be able to give a better treatment to our patients. One of the most common immune/inflammatory disease of infectious origin is the periodontitis. This disease can have a negative impact in health and life quality, since patients can lose their teeth. Chronic and aggressive periodontal diseases are complex diseases with multifactorial etiology, that result in the destruction of the supporting structures of teeth. The immune system of the host plays an important role in this process. As environmental risk factors are smoking habits, nutrients and food diet, obesity and involved metabolic syndromes, stress and depression. Concerning genetic risk factors, several studies show the existence of familial aggregation and polymorphisms of diverse genes as well as epigenetic changes have been associated with increased susceptibility to periodontitis.
- Nodule-specific modulation of glutamine synthetase in transgenic medicago truncatula leads to inverse alterations in asparagine synthetase expressionPublication . Carvalho, Helena; Cardoso, Inês Lopes; Lima, Ligia; Melo, Paula; Cullimore, Julie V.Transgenic Medicago truncatula plants were produced harboring chimeric gene constructs of the glutamine synthetase (GS) cDNA clones (MtGS1a or MtGS1b) fused in sense or antisense orientation to the nodule-specific leghemoglobin promoter Mtlb1. A series of transgenic plants were obtained showing a 2- to 4-fold alteration in nodule GS activity when compared with control plants. Western and northern analyses revealed that the increased or decreased levels of GS activity correlate with the amount of cytosolic GS polypeptides and transcripts present in the nodule extracts. An analysis of the isoenzyme composition showed that the increased or decreased levels of GS activity were attributable to major changes in the homo-octameric isoenzyme GS1a. Nodules of plants transformed with antisense GS constructs showed an increase in the levels of both asparagine synthetase (AS) polypeptides and transcripts when compared with untransformed control plants, whereas the sense GS transformants showed decreased AS transcript levels but polypeptide levels similar to control plants. The polypeptide abundance of other nitrogen metabolic enzymes NADH-glutamic acid synthase and aspartic acid aminotransferase as well as those of major carbon metabolic enzymes phosphoenolpyruvate carboxylase, carbonic anhydrase, and sucrose synthase were not affected by the GS-gene manipulations. Increased levels of AS polypeptides and transcripts were also transiently observed in nodules by inhibiting GS activity with phosphinothricin. Taken together, the results presented here suggest that GS activity negatively regulates the level of AS in root nodules of M. truncatula. The potential role of AS in assimilating ammonium when GS becomes limiting is discussed.