Browsing by Issue Date, starting with "2007"
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- Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: a novel method applied to the analysis of the Portuguese populationPublication . Carvalho, A; Marques, A; Maciel, P; Rodrigues, FToll-like receptors (TLRs) are cellular receptors that mediate recognition of microbial challenges and the subsequent inflammatory response. Genetic variations within these inflammation-associated genes may alter host-pathogen defence mechanisms affecting susceptibility towards infectious diseases. Taking into account the significance of these genes, we developed a simple and rapid method based in the bi-directional PCR amplification of specific alleles (Bi-PASA) for genotyping known sequence variants in TLR4 (Asp299Gly and Thr399Ile) and TLR9 (T-1237C) genes. This method allows genotype determination in a single reaction and is amenable to large-scale analysis. We used Bi-PASA to characterize the distribution of these polymorphisms in the Portuguese population. A total of 388 randomly selected blood donors of Portuguese origin (203 females and 185 males) were genotyped and allele frequencies were determined. Among the tested individuals, 11.1% and 10.8% were heterozygous for Asp299Gly and Thr399Ile, respectively. In what concerns the T-1237C variation in TLR9, the variant allele was present in 19.4% of the individuals tested. Besides confirming the usefulness of the Bi-PASA in polymorphism analysis, the data presented provide valuable information on TLR polymorphisms in the Portuguese population that can be used to stratify risk patients with increased susceptibility to infection.
- Acidente Vascular Cerebral em Doente com Anemia de Células FalciformesPublication . Caridade, S; Machado, A; Ferreira, CStroke in patients with sickle cell anemia is multifactorial but occurs mainly by 2 mechanisms: occlusive arteriopathy and obliteration of small vessels with plugs of sickle cells. The high individual risk can be assessed by simple and well-defined strategies such as ultrasounds with transcranial and cervical Doppler Ultrasonography. The authors report the clinical case of a 25 year-old black female patient with sickle cell anemia, who was admitted with right hemiparesis. Cerebral MRI showed small recent fronto-temporo-parietal cortical-subcortical infarcts and several, older, posterior periventricular lacunae of left preponderance. A brief discussion is made, with particular emphasis on the proper treatment and prevention of its cerebrovascular complications.
- Hérnia de BochdaleckPublication . Leão, P; Carneiro, T; Luís, D; Gomes, A
- Association between functional EGF+61 polymorphism and glioma riskPublication . Costa, BM; Ferreira, P; Costa, S; Canedo, P; Oliveira, P; Silva, AI; Pardal, F; Suriano, G; Machado, JC; Lopes, JM; Reis, RMPURPOSE: Epidermal growth factor (EGF) plays a critical role in cancer. A polymorphism in the EGF gene (EGF+61) may influence its expression and contribute to cancer predisposition and aggressiveness. In the present study, we aimed to elucidate the role of EGF+61 in glioma susceptibility and prognosis. EXPERIMENTAL DESIGN: A case-control study involving 197 glioma patients and 570 controls was done. Univariate and multivariate logistic regression analyses were used to calculate odds ratio (OR) and 95% confidence intervals (95% CI). False-positive report probability was also assessed. The luciferase reporter gene assay was used to ascertain the functional consequences of this polymorphism. RESULTS: Corroborating the univariate analysis, the multivariate model showed that the G allele conferred higher risks for gliomas (OR, 1.32; 95% CI, 1.04-1.67), glioblastomas (OR, 1.47; 95% CI, 1.02-2.10), and oligodendrogliomas (OR, 1.55; 95% CI, 1.07-2.23). The GG genotypes were associated with increased risk for gliomas (OR, 1.71; 95% CI, 1.07-2.73), glioblastomas (OR, 2.03; 95% CI, 1.02-4.05), and oligodendrogliomas (OR, 2.72; 95% CI, 1.18-6.28). In addition, the AG+GG genotypes were associated with higher risk for gliomas (OR, 1.52; 95% CI, 1.03-2.23) and oligodendrogliomas (OR, 2.80; 95% CI, 1.35-5.79). No significant association was observed between the EGF+61 polymorphism and glioblastoma or oligodendroglioma patients' overall survival. The luciferase reporter gene assay exhibited a significant increased promoter activity for the G variant compared with the reference A allele. CONCLUSIONS: These findings support the role of the EGF+61 polymorphism as a susceptibility factor for development of gliomas and show its implication on EGF promoter activity.
- Sintomas vasomotores em doentes submetidos a tratamento hormonalPublication . Quinta, A; Cabral-Ribeiro, J; Ribeiro dos Santos, AOs sintomas vasomotores são um efeito lateral frequente do bloqueio hormonal, capazes de produzir grande desconforto ao doente e que podem persistir durante anos com frequência e intensidade inalteradas. Como os sintomas vasomotores e o seu impacto são por vezes difíceis de quantificar, a utilização de escalas (frequência x severidade) pode ajudar a objectivar o impacto na qualidade de vida dos doentes e assim orientar a decisão de tratamento. Existem várias alternativas para o tratamento dos sintomas vasomotores desde simples medidas dietéticas, terapêuticas comportamentais e tratamento farmacológico, devendo ser individualizadas e ajustadas a cada doente. Realizamos uma pequena revisão sobre o tema com foco nas várias alternativas terapêuticas. sintomas vasomotores, bloqueio hormonal, estrogénios, acetato de megesterol, acetato de ciproterona, acetato de medroxiprogesterona, venlafaxina
- Transvesical thoracoscopy: A natural orifice translumenal endoscopic approach for thoracic surgeryPublication . Lima, E; Henriques-Coelho, T; Rolanda, C; Pêgo, JM; Silva, D; Carvalho, JL; Correia-Pinto, JBackground Recently there has been an increasing enthusiasm for using natural orifices translumenal endoscopic surgery (NOTES) to perform scarless abdominal procedures. We have previously reported the feasibility and safety of the transvesical endoscopic peritoneoscopy in a long-term survival porcine model as useful for those purposes. Herein, we report our successful experience performing transvesical and transdiaphragmatic endoscopic approach to the thoracic cavity in a long-term survival study in a porcine model. Methods Transvesical and transdiaphragmatic endoscopic thoracoscopy was performed in six anesthetized female pigs. A 5 mm transvesical port was created on the bladder wall and an ureteroscope was advanced into the peritoneal cavity. After diaphragm inspection, we introduced through the left diaphragmatic dome a ureteroscope into the left thoracic cavity. In all animals, we performed thoracoscopy as well as peripheral lung biopsy. Animals were sacrificed by day 15 postoperatively. Results We easily introduced a 9.8 Fr ureteroscope into the thoracic cavity that allowed us to visualize the pleural cavity and to perform simple surgical procedures such as lung biopsies without complications. There were neither respiratory distress episodes nor surgical complications to report. Postmortem examination revealed complete healing of vesical and diaphragmatic holes, whereas no signs of infection or adhesions were observed in the peritoneal or thoracic cavities. Conclusion This study demonstrates the feasibility of transvesical thoracoscopy in porcine model. However, although this study extends the potential applications of NOTES to the thoracic cavity, new instruments and further work are needed to provide evidence that this could be translated to humans and with advantages for patients.
- IgE-mediated hypersensitivity after ibuprofen administrationPublication . Bluth, MH; Beleza, P; Hajee, F; Jordão, MJ; Figueiredo, J; Almeida, F; Smith-Norowitz, TAlthough many immunoglobulin-related drug sensitivities have been described, there is a paucity of reports regarding IgE-related drug sensitivities. Here we describe a case of a patient who demonstrated IgE-mediated sensitivity to ibuprofen.
- Third-generation cholecystectomy by natural orifices: transgastric and transvesical combined approachPublication . Rolanda, C; Lima, E; Pêgo, JM; Henriques-Coelho, T; Silva, D; Moreira, I; Macedo, G; Carvalho, JL; Correia-Pinto, JBACKGROUND: An isolated transgastric port has some limitations in performing transluminal endoscopic cholecystectomy. However, transvesical access to the peritoneal cavity has recently been reported to be feasible and safe. OBJECTIVE: To assess the feasibility and the technical benefits of transgastric and transvesical combined approach to overcome the limitations of isolated transgastric ports. DESIGN: We created a transgastric and transvesical combined approach to perform cholecystectomy in 7 consecutive anesthetized female pigs. The transgastric access was achieved after perforation and dilation of the gastric wall with a needle knife and with a balloon, respectively. Under cystoscopic control, an ureteral catheter, a guidewire, and a dilator of the ureteral sheath were used to place a transvesical 5-mm overtube into the peritoneal cavity. By using a gastroscope positioned transgastrically and a ureteroscope positioned transvesically, we carried out cholecystectomy in all animals. RESULTS: Establishment of transvesical and transgastric accesses took place without complications. Under a carbon dioxide pneumoperitoneum controlled by the transvesical port, gallbladder identification, cystic duct, and artery exposure were easily achieved in all cases. Transvesical gallbladder grasping and manipulation proved to be particularly valuable to enhance gastroscope-guided dissection. With the exclusion of 2 cases where mild liver-surface hemorrhage and bile leak secondary to the sliding of cystic clips occurred, all remaining cholecystectomies were carried out without incidents. LIMITATIONS: Once closure of the gastric hole proved to be unreliable when using endoclips, the animals were euthanized; necropsy was performed immediately after the surgical procedure. CONCLUSIONS: A transgastric and transvesical combined approach is feasible, and it was particularly useful to perform a cholecystectomy through exclusive natural orifices.
- Ileus paralítico no pós-operatórioPublication . Leão, P
- Third-generation nephrectomy by natural orifice transluminal endoscopic surgeryPublication . Lima, E; Rolanda, C; Pêgo, JM; Henriques-Coelho, T; Silva, D; Osório, L; Moreira, I; Carvalho, JL; Correia-Pinto, JPURPOSE: Recently there has been increasing enthusiasm for performing simple abdominal procedures by transgastric surgery. We previously reported the usefulness of a combined transgastric and transvesical approach to cholecystectomy. In this study we assessed the feasibility of combined transgastric and transvesical approach for performing a more complex surgical procedure, such as nephrectomy, in a porcine model. MATERIALS AND METHODS: In a nonsurvival study combined transgastric and transvesical approaches were established in 6 female pigs. Under ureteroscope guidance we installed a transvesical 5 mm over tube into the peritoneal cavity and a flexible gastroscope was passed orally into the peritoneal cavity by a gastrotomy. We performed right or left nephrectomy with instruments introduced by the 2 devices that worked in the renal hilum, alternating device intervention for dissection and retraction procedures. RESULTS: Four right and 2 left nephrectomies were performed. There were no complications during the creation of transvesical and transgastric access. In all animals we visualized the 2 kidneys. The renal vessels and ureter were reasonably individualized and ligated separately with ultrasonic scissors, which were introduced through the transvesical port. In 2 early cases mild hemorrhage occurred after ultrasonic ligation. To overcome this complication we applied clips successfully before ultrasonic ligation in the remaining animals. Thus, complete renal release and mobilization to the stomach were achieved in all animals. CONCLUSIONS: Nephrectomy by natural orifices using the combined transgastric and transvesical approach is technically feasible, although to our knowledge there is no reliable method for removing the specimen with current instruments.