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Search Results: 1 - 10 of 11874 matches for " Laura Vilarinho "
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PAH mutational spectrum: still expanding  [PDF]
Laura Vilarinho, Sofia Esteves, Elisabete Ramos, António Amorim, Luisa Azevedo
Open Journal of Genetics (OJGen) , 2011, DOI: 10.4236/ojgen.2011.12002
Abstract: Phenylketonuria (PKU, MIM 261600) is the most common inborn error of amino acid metabolism. To date, a total of more than 500 mutations have been associated with the disease. In this report, the novel p.Glu182Lys mutation, found in a Portuguese family in combination with the previously reported p.Leu 348Val, is presented and its putative deleterious impact discussed.
Cadeia Respiratória Mitocondrial Aspectos Clínicos, Bioquímicos, Enzimáticos e Moleculares Associados ao Dé?ce do Complexo I
Ferreira,Mariana; Aguiar,Tatiana; Vilarinho,Laura;
Arquivos de Medicina , 2008,
Abstract: mitochondrial cytopathies are a group of genetically heterogeneous disorders, that is characterized by alterations in the mitochondrial structure and oxidative phosphorylation deficiency (oxphos). oxphos system consists of five multimeric protein complexes and two electron carriers. nadh-ubiquinone oxidoreductase (complex i), the first and largest of the five complexes, is the major entry point of electrons, from krebs cycle, of the oxphos system. complex i deficiency is a frequently diagnosed defect of the mitochondrial oxphos system, caused by mutations in either the mitochondrial dna (mtdna) or the nuclear dna. because of this dual genetic control, which contributes to the complexity of the oxphos system, defects on complex i results in a broad spectrum of clinical phenotypes, that are usually associated to severe metabolic disorders of childhood, including progressive cardiomyopathy, encephalomyopathy, leukodystrophy or leigh syndrome. research on the mechanisms underlying mitochondrial complex i deficiency has used several models, such as neurospora crassa and human cell cybrids, and has taken advantage by the routinary use of novel biochemical tools, such as blue native polyacrylamide gel electrophoresis. given the complexity of this oxphos enzyme, both in structure and maintenance, it is difficult to achieve the molecular diagnosis of patients in a routine basis. in portugal, the study of these patients did not go beyond the biochemical activity measurements of respiratory chain enzymes and screening of most common point mutations and rearrangements of mtdna, until some months ago. as a consequence, at the molecular level, the majority of the complex i deficiency cases remain unsolved, being essential to move forward to a more wide-ranging study. moreover, a correct diagnosis will permit adequate genetic counselling and prenatal diagnosis.
Consequences of primer binding-sites polymorphisms on genotyping practice  [PDF]
Estefania M. Martins, Laura Vilarinho, Sofia Esteves, Mónica Lopes-Marques, António Amorim, Luísa Azevedo
Open Journal of Genetics (OJGen) , 2011, DOI: 10.4236/ojgen.2011.12004
Abstract: Herein we investigated the effect of primer binding site polymorphisms in achieving correct genotyping when a mismatch occurs in distinct positions of the primer sequence. For that purpose primer sequences were designed in order to carry either allelic form at the 3’ end and at 3 bp, 5 bp and 7 bp apart from the 3’ end of an intronic polymorphism (rs2247836) observed in phenylalanine hydroxylase (PAH) gene. For one of the alleles annealing failure was obtained when the mismatch occurs at all the four primer-site locations. Primer sequences carrying the alternative SNP allele resulted to be less specific as the distance to the primer-3’ end was increased. Altogether, these results revealthat effects in the extension of the annealing failure is allele and mismatch-position dependent.
Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss
Célia Nogueira,Miguel Coutinho,Cristina Pereira,Alessandra Tessa,Filippo M. Santorelli,Laura Vilarinho
Genetics Research International , 2011, DOI: 10.4061/2011/587602
Abstract: The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic) and searched for variations in two frequent genes, GJB2 and GJB6, in the non-syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrp gene (namely, m.5558A>G). We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84). Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL. 1. Introduction Sensorineural hearing loss (SNHL) is one of the most common disabilities in human, and genetics is an important aspect in research and clinical practice for SNHL. One in 1000 children is born with bilateral SNHL, and 50–70% of them have monogenic causes for their deafness [1]. In addition, 10% of the people over 65 years have SNHL that limits considerably speech communication. Although the etiology is polygenic in most of the cases, with different contribution of ageing and environment, discovering monogenic causes has important clinical implications in terms of better counseling and management. Hereditary hearing loss can be classified into syndromic and nonsyndromic depending on the associated features. Whilst over 400 genetic syndromes have been described in association with mono- or bilateral deafness, syndromic conditions account for about 30% of hereditary congenital hearing loss, whereas the relative contribution to all deaf people is much higher (>70%) for nonsyndromic subtypes [1]. Nonsyndromic sensorineural hearing loss (NSSNHL) is predominantly inherited in an autosomal recessive patterns (DFNB loci) (80%) but can be also autosomal dominantly (DFNA) (15–20%), X-linked (DFN) (2-3%), or maternally (1%) transmitted. A polygenic or multifactorial pattern of inheritance should be postulated for late onset cases of hearing impairment [2, 3]. To date, 134 deafness loci (77 DFNB and 57 DFNA) have been reported, with more than 40 genes cloned [4]. Further heterogeneity is, however, expected to emerge. Mutations in the GJB2 and GJB6 genes on the DFNB1 locus at chromosome 13q11-q12 are responsible for up to 50% of autosomal recessive (AR)
Fenilcetonúria revisitada
Vilarinho,Laura; Queirós,Ana; Leandro,Paula; Almeida,Isabel Tavares de; Rivera,Isabel;
Arquivos de Medicina , 2006,
Abstract: pku, the most common amino acid disorder in the caucasian population, became the paradigma of an easily diagnosed disease by neonatal screening. early treatment prevents neurological damage and severe mental retardation. in portugal, until the end of 2005, 2,481,988 newborns were screened for by the national neonatal screening program and 226 pku patients identified, displaying a prevalence of 1/11,031. one-hundred and three patients, corresponding to 196 independent alleles, were fully genotyped. among the 29 different mutations identified, ivs10nt-11g→a revealed to be the most frequent one (17.3%). these results demonstrate that, as expected, pku is a highly heterogeneous disease at the molecular level.
Diagnóstico pré-natal de Síndrome de Smith-Lemli-Opitz
Cardoso,Maria Luís; Fortuna,Ana Maria; Castedo,Sérgio; Martins,Margarida; Montenegro,Nuno; Jakobs,Cornelis; Clayton,Peter; Vilarinho,Laura;
Arquivos de Medicina , 2005,
Abstract: the smith-lemli-opitz syndrome (slo) is an autosomal recessive polimalformative metabolic syndrome, characterized by a recognizable pattern of minor facial anomalies, congenital anomalies of many organs, failure to thrive, and mental retardation. it is caused by a defect in the enzyme 7-dehydrocholesterol reductase, which is responsible for the last step of cholesterol biosynthesis pathway. the smith-lemli-opitz syndrome is characterized by low plasma cholesterol levels and elevated concentrations of the cholesterol precursor 7-dehydrocholesterol. we report on a pregnancy with a positive integrated prenatal screening test for down?s syndrome, with unusually low maternal serum levels of unconjugated oestriol (ue3). an increased nuchal translucency was noted in the 11 weeks? scan. the fetal karyotype revealed a normal 46,xy karyotype. detailed ultrasound scan at 18 weeks revealed ambiguous genitalia, short femur length, cleft lip heart defect and intrauterine growth retardation. based on these findings and the maternal serum levels of ue3 prenatal diagnosis, slo was suspected and later confirmed by the demonstration of low levels of cholesterol and high levels of 7-dehydrocholesterol and 8-dehydrocholesterol in a stored frozen sample of amniotic fluid. pregnancy was terminated at 20 weeks and the mutational analysis of dhcr7 gene on dna obtained from foetal tissues revealed homozygosity for the common caucasian mutation ivs81g>c associated with slo severe phenotypes. the state of the art on prenatal diagnosis of smith-lemli-opitz syndrome is reviewed.
CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population  [PDF]
Filipa Ferreira, Inês Leal, David Sousa, Teresa Costa, Concei??o Mota, Ana Marta Gomes, Daniela Lopes, Maria do Carmo Macário, Isabel Tavares, Helena Pinto, Jo?o Paulo Oliveira, Rita Magri?o, Célia Carmona, Sónia Ramos, Raquel Neiva, Ana Marc?o, Laura Vilarinho
Open Journal of Genetics (OJGen) , 2018, DOI: 10.4236/ojgen.2018.84008
Abstract: Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene. Methods: Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS, followed by direct sequencing of the coding exons of CTNS. Results: From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining
Congenital tuberculosis: a case report
Vilarinho, Liana Consuelo Santana;
Brazilian Journal of Infectious Diseases , 2006, DOI: 10.1590/S1413-86702006000500014
Abstract: congenital tubercolosis is an unusual and severe clinical pattern of tuberculosis presentation of mycobacterium tuberculosis infection. furthermore, it usually has a difficult treatment. we report a two-month-old male infant who presented with fever, dyspnea and a diffuse micronodular pattern at x-ray; mother with severe tuberculosis. treatment with the triple drug regimen was initiated, but the child developed jaundice and an increase in liver enzymes on various occasions during treatment. a regimen specifically developed for cases of intolerance was initiated but there was no improvement in hyperthermia. finally, the dose of inh and rmp was increased, the fever receded and the child was cured. this case remarks difficulties on diagnosis and therapeutic management about this important severe disease in public health, and alert for development of protocols that foresee these difficulties.
A trajetória do aprendizado tecnológico nos censos demográficos no Brasil
Vilarinho, Paulo Ferreira;
Cadernos EBAPE.BR , 2006, DOI: 10.1590/S1679-39512006000200010
Abstract: the study analyses the technological development performed by the instituto brasileiro de geografia e estatística - ibge. it focuses on the demographic census from its origins until the year 2000 census. its main theoretical basis is the technological accumulation (bell, pavitt, 1993) associated with dynamic competencies (teece; pisano; schuen, 1990) and innovation and learning theories (g.dosi, 1988). the empirical basis uses the analytical structure of learning and technological-capability paths (figueiredo, 2001) to classify the innovation and knowledge socialization resources and its effects on the organizations processes. the data were collected through examining documents and making interviews in the boards of technical directors of ibge in 2002. the study demonstrates that ibge has evolved over 50 years from a basic degree of technological experimentation - assimi-lated from the developed countries - into an international advanced level of technological competence which was exported in 2000. finally, this study considers that government institutions' non-integrated understanding tends to establish restricted circles of specialists and not optimizing the use of low depreciated technologies.
A percep??o da captura política da saúde suplementar no Brasil
Vilarinho, Paulo Ferreira;
Cadernos EBAPE.BR , 2010, DOI: 10.1590/S1679-39512010000400009
Abstract: this paper analyzes the public and private relationship in the private health system in brazil. it focuses on the relevant stakeholders' actions and strategies according to the theoretical basis of the institutional vision of the organizational theory. the empirical and documental data were collected between 2003 and 2006 and were subjected to qualitative analysis. the study suggests that the social phenomenal changes, as aging and income losses of the middle class force the redirection of the corporation strategy of private players towards a safety environment for their economic interests, reducing the public-private partnership equilibrium through an incremental political capture process.
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