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Rosa R.F.M.,Federal University of Health Sciences, Porto Alegre | Trevisan P.,Federal University of Health Sciences, Porto Alegre | Rosa R.C.M.,Federal University of Health Sciences, Porto Alegre | Lorenzen M.B.,Graduation in Medicine | And 4 more authors.
Pediatric Neurology

Background Trisomy 18 or Edwards syndrome is a chromosomal abnormality characterized by a broad clinical picture and a limited survival. More than 130 different abnormalities have been described in these patients - among them are neural tube defects. Methods We verified the frequency and types of major neural tube defects observed among patients with trisomy 18. Our sample consisted of consecutive patients evaluated by a clinical genetics service of a referral hospital in southern Brazil between 1975 and 2008. Fisher's exact test (two-tailed) and chi-square test with Yates' correction were used to compare frequencies (P < 0.05 values were considered as significant). Results During the period of evaluation, we identified 50 patients with trisomy 18; 33 (66%) were female and age at the first evaluation ranged from 1 day to 16 years (median 14 days). One cell line with full trisomy 18 was the predominant cytogenetic finding (90%). Three patients (6%) had major neural tube defects, all females. These were two patients (4%) with encephaloceles and one (2%) with myelomeningocele. This last patient undergo to correction surgery on her first day of life. Conclusions Our data, in accordance with the literature, support the idea that the presence of neural tube defects among patients with trisomy 18 is not coincidental (i.e., these defects are actually part of the spectrum of abnormalities presented in trisomy 18). Thus, the diagnosis of trisomy 18 should be considered in children with major neural tube defects, especially in the presence of other abnormalities or dysmorphisms. © 2013 Elsevier Inc. All rights reserved. Source

Olijnyk J.,Historic Center | Olijnyk J.,Federal University of Rio Grande do Sul | Pretto G.,Historic Center | Pretto G.,Federal University of Rio Grande do Sul | And 4 more authors.
Journal of Minimal Access Surgery

Background: According to the precepts of reduced surgical trauma and better cosmesis, an intermediate laparoscopic appendectomy technique between the conventional three-trocar procedure and Laparoendoscopic Single Site Surgery (LESS) was performed, based on literature review and experience of the surgical team. Patients and Methods: Patients with early stage acute appendicitis and a favourable anatomical presentation were selected. The procedure was performed with two ports: A 10 mm trocar at the umbilicus site for laparoscope and a 5 mm one just above the pubic bone for grasper. The appendix was secured by external wire traction through a right iliac fossa puncture with 14-gauge intravenous catheter. Results: From August 2009 to December 2012, we performed 42 cases; two required conversion to a conventional laparoscopic technique. There were no complications in the remaining, no wound infections and a mean operation time of 64.5 minutes. Conclusion: The use of two-port laparoscopic appendectomy can act as a LESS intermediate step procedure, without loss of instrumental triangulation and maintenance of appropriate counter-traction. This technique can be used as an alternative to the three-port laparoscopic procedure in patients with initial presentation of appendicitis and a favourable anatomical position. Source

Stroke is the leading cause of death in many countries of Latin America. Population studies are necessary in this region. Objectives:To evaluate the prevalence of stroke and its risk factors in a population of vulnerable communities of southern Brazil. Methods: Population-based crosssectional study with systematic sampling. Individuals aged 20 and over were included (n=3,391). Individuals with previous diagnosis of stroke or identified by a validate stroke questionnaire were compared with those without stroke in many variables. Results: 285 individuals (8.4%) had previous stroke. The group without stroke showed greater average of years of study than the group with stroke (p<0.001). Multivariable analysis identified as risk factors for stroke (p<0.05): age from 40 to 59, age from 60 to 79, widowhood, present smoking, previous smoking, hypertension and ischemic heart disease. Conclusion: The findings in this population indicate the need of preventive cost-effective public health policies in Brazil. Source

Rosario P.W.,Institute of Education and Research | Calsolari M.R.,Endocrinology Service

Background: Serum calcitonin (sCt) is measured in many patients with nodular thyroid disease, and the possibility of a false-positive result is a matter of concern, particularly in the case of mild hypercalcitoninemia. Among the conditions reported to cause sCt elevation, Hashimoto's thyroiditis (HT) and papillary thyroid carcinoma (PTC) are relevant. In view of the high frequency of these conditions in patients with nodular disease and the controversy regarding the extent to which they contribute to hypercalcitoninemia, the objective of this study was to determine the influence of the presence of HT and PTC on sCt levels. Methods: Three groups of patients >12 years of age were studied. The first group (group A, n=492) consisted of patients with nodular disease evaluated before thyroidectomy and without medullary thyroid carcinoma (MTC) upon histology. The second group (group B, n=583) consisted of subjects without nodules on ultrasound. The third group (group C, n=62) consisted of patients with PTC and distant metastases after total thyroidectomy. The levels of sCt and frequency of elevated sCt were compared in patients with versus without HT (groups A and B) and those with PTC>1 cm versus without PTC (group A). Results: No difference in sCt levels or in the frequency of elevated sCt was observed between patients with and without HT, irrespective of sex. Moreover, the presence of PTC>1 cm did not influence sCt levels or the frequency of hypercalcitoninemia. In fact, none of the 1075 patients in groups A and B had sCt>40 pg/mL, regardless of the presence of HT and PTC. Serum calcitonin was undetectable in any patient of group C. Conclusions: The finding of hypercalcitoninemia in patients with nodular disease should be interpreted as a suspicion of MTC, even in the presence of associated HT or cytology suggestive of PTC. © Copyright 2013, Mary Ann Liebert, Inc. 2013. Source

Koshiyama D.B.,Federal University of Health Sciences, Porto Alegre | Capra M.E.Z.,Grupo Hospitalar Conceicao | Paskulin G.A.,Federal University of Health Sciences, Porto Alegre | Rosa R.F.M.,Federal University of Health Sciences, Porto Alegre | And 4 more authors.
Annals of Hematology

Variant Philadelphia (Ph) chromosome can be observed in 5-10 % of chronic myelogenous leukemia (CML) patients. However, there are only a few studies which have analyzed the prognostic implications of these complex translocations in CML patients after the advent of imatinib mesylate and the results found are conflicting. We investigated the clinical features and cytogenetic response of Brazilian chronic phase (CP) CML patients with variant Ph treated with imatinib mesylate. Among 93 CP CML patients, eight (8.6 %) exhibited complex translocations, involving one (n = 6), two (n = 1), or three (n = 1) additional chromosomes. At 6, 12, and 18 months, a complete cytogenetic response was observed in 100 % of variant Ph patients, respectively. No significant difference was found between variant Ph and standard translocation patients regarding the response to IM treatment at 6, 12, and 18 months. Likewise, there was no statistically significant difference between the two groups concerning the overall survival, failure-free survival, progression-free survival, and event-free survival. The results obtained in our study, despite our sample size, suggest, in agreement to other data found in the literature, that the presence of variant Philadelphia chromosome does not bestow a prognostic disadvantage when compared to the group with classic Ph. This observation does not suggest the need to adjust the treatment protocol due to the presence of variant Ph. However, further studies with larger sample sizes and evaluating both the cytogenetic and molecular response to IM treatment should be conducted to confirm our findings. © 2012 Springer-Verlag Berlin Heidelberg. Source

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