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Porto Alegre, Brazil

Rosa R.F.M.,UFCSPA | Rosa R.C.M.,UFCSPA | Zen P.R.G.,UFCSPA | Graziadio C.,UFCSPA | Paskulin G.A.,Federal University of Rio Grande do Sul
Revista Paulista de Pediatria | Year: 2013

Objective: To review the clinical, etiological, diagnostic, and prognostic characteristics of trisomy 18 (Edwards syndrome). Data sources: Scientific articles in the MedLine, Lilacs, and SciELO databases were searched using the descriptors 'trisomy 18' and 'Edwards syndrome'. The research was not limited to a specific time period and included all articles in such databases. Data synthesis: Edwards syndrome is a disease characterized by a broad clinical picture and a very reserved prognosis. There are descriptions of more than 130 different anomalies, which can involve virtually all organs and systems. Its findings are the result of the presence of three copies of chromosome 18. The main chromosomal constitution observed among these patients is a free trisomy of chromosome 18, which is associated with the phenomenon of nondisjunction, especially in maternal gametogenesis. Most fetuses with Edwards syndrome die during the embryonic and fetal life. The median of survival among live births has usually varied between 2.5 and 14.5 days. Conclusions: Knowledge on the clinical picture and on the prognosis of Edwards syndrome patients is of great importance regarding the neonatal care and the decisions about invasive treatments. The speed to have a confirmed diagnosis is important for making decisions about medical procedures. Often, interventions are performed under emergency conditions, without many opportunities for discussion, and they involve difficult medical and ethical issues.

Rosa R.F.M.,Medical geneticist at UFCSPA CHSCPA | da Silva A.P.,Medical genetics program | Goetze T.B.,UFCSPA | de Almeida Bier B.,UFCSPA | And 3 more authors.
Brazilian Journal of Otorhinolaryngology | Year: 2011

Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. Purpose: To investigate the ear abnormalities of a sample of patients with OAVS. Materials and methods: The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid computed tomography and with normal karyotype. We performed a review of its clinical features, giving emphasis to the ear findings. Results: Nine patients were male, the ages ranged from 1 day to 17 years. Ear abnormalities were observed in all patients and involved the external (n=12), middle (n=10) and inner ear (n=3). Microtia was the most frequent finding (n=12). The most common abnormalities of the middle ear were: opacification (n=2), displacement (n=2) and malformation of the ossicular chain. Agenesis of the internal auditory canal (n=2) was the most frequent alteration of the inner ear. Conclusions: Ear abnormalities are variable in patients with OAVS and often there is no correlation between findings in the external, middle and inner ear. The evaluation of these structures is important in the management of individuals with OAVS.

Sitta A.,Servico de Genetica Medica | Ribas G.S.,Servico de Genetica Medica | Mescka C.P.,Federal University of Rio Grande do Sul | Barschak A.G.,UFCSPA | And 4 more authors.
Cellular and Molecular Neurobiology | Year: 2014

Maple syrup urine disease (MSUD) is a metabolic disease caused by a deficiency in the branched-chain α-keto acid dehydrogenase complex, leading to the accumulation of branched-chain keto acids and their corresponding branched-chain amino acids (BCAA) in patients. Treatment involves protein-restricted diet and the supplementation with a specific formula containing essential amino acids (except BCAA) and micronutrients, in order to avoid the appearance of neurological symptoms. Although the accumulation of toxic metabolites is associated to appearance of symptoms, the mechanisms underlying the brain damage in MSUD remain unclear, and new evidence has emerged indicating that oxidative stress contributes to this damage. In this context, this review addresses some of the recent findings obtained from cells lines, animal studies, and from patients indicating that oxidative stress is an important determinant of the pathophysiology of MSUD. Recent works have shown that the metabolites accumulated in the disease induce morphological alterations in C6 glioma cells through nitrogen reactive species generation. In addition, several works demonstrated that the levels of important antioxidants decrease in animal models and also in MSUD patients (what have been attributed to protein-restricted diets). Also, markers of lipid, protein, and DNA oxidative damage have been reported in MSUD, probably secondary to the high production of free radicals. Considering these findings, it is well-established that oxidative stress contributes to brain damage in MSUD, and this review offers new perspectives for the prevention of the neurological damage in MSUD, which may include the use of appropriate antioxidants as a novel adjuvant therapy for patients. © 2013 Springer Science+Business Media.

Goltz F.R.,Federal University of Health Sciences, Porto Alegre | Stenzel L.M.,UFCSPA | Schneider C.D.,Federal University of Health Sciences, Porto Alegre
Revista Brasileira de Psiquiatria | Year: 2013

Objective: To identify disordered eating behaviors and body image dissatisfaction, as well as their relationship to body fat (BF), among male athletes in high risk sports for eating disorders. Methods: One hundred and fifty-six male athletes were divided into the following categories: weightclass sports, sports where leanness improves performance, and sports with aesthetic ideals. BF was assessed and three questionnaires were used: the Eating Attitudes Test; the Bulimic Investigatory Test, Edinburgh; the Body Shape Questionnaire. Results: Disordered eating behaviors and body image dissatisfaction were found in 43 (27.6%) and 23 athletes (14.7%), respectively, and an association was detected between the two variables (p, 0.001). Athletes with and without disordered eating behaviors did not differ in %BF (11.065.2% and 9.864.0%, respectively; p = 0.106). However, athletes with body image dissatisfaction had higher %BF than those who were satisfied (12.665.9% and 9.763.9%, respectively; p = 0.034). There were no differences in BF, frequency of disordered eating behaviors, and body image dissatisfaction between sports categories. Conclusion: Nearly one-quarter of athletes showed disordered eating behaviors, which was associated with body image dissatisfaction. Athletes with higher %BF were more likely to be dissatisfied with body image. There was no difference in eating behavior and body image between athletes from different sports categories. © 2013 Associação Brasileira de Psiquiatria.

Debarba H.G.,Federal University of Rio Grande do Sul | Grandi J.,Federal University of Rio Grande do Sul | MacIel A.,Federal University of Rio Grande do Sul | Zanchet D.,UFCSPA
Studies in Health Technology and Informatics | Year: 2012

Hepatectomies are resections in which segments of the liver are extracted. While medical images are fundamental in the surgery planning procedure, the process of analysis of such images slice-by-slice is still tedious and inefficient. In this work we propose a strategy to efficiently and semi-automatically segment and classify patient-specific liver models in 3D through a mobile display device. The method is based on volume visualization of standard CT datasets and allows accurate estimation of functional remaining liver volume. Experiments showing effectiveness of the method are presented, and quantitative and qualitative results are discussed. © 2012 The authors and IOS Press. All rights reserved.

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