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- A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locusPublication . Milili, M; Antunes, H; Blanco-Betancourt, C; Nogueiras, A; Santos, E; Vasconcelos, J; Castro e Melo, J; Schiff, CMales with X-linked agammaglobulinaemia (XLA) due to mutations in the Bruton tyrosine kinase gene constitute the major group of congenital hypogammaglobulinaemia with absence of peripheral B cells. In these cases, blockages between the pro-B and pre-B cell stage in the bone marrow are found. The remaining male and female cases clinically similar to XLA represent a genotypically heterogeneous group of diseases. In these patients, various autosomal recessive disorders have been identified such as mutations affecting IGHM, CD79A, IGLL1 genes involved in the composition of the pre-B cell receptor (pre-BCR) or the BLNK gene implicated in pre-BCR signal transduction. In this paper, we report on a young female patient characterised by a severe non-XLA agammaglobulinaemia that represents a new case of Igmu defect. We show that the B cell blockage at the pro-B to pre-B cell transition is due to a large homologous deletion in the IGH locus encompassing the IGHM gene leading to the inability to form a functional pre-BCR. The deletion extends from the beginning of the diversity (D) region to the IGHG2 gene, with all JH segments and IGHM, IGHD, IGHG3 and IGHG1 genes missing. CONCLUSION: alteration in Igmu expression seems to be relatively frequent and could account for most of the reported cases of autosomal recessive agammaglobulinaemia.
- Transvesical endoscopic peritoneoscopy: intra-abdominal scarless surgery for urologic applicationsPublication . Lima, E; Rolanda, C; Correia-Pinto, JFor many abdominal procedures, advantages such as minimal scarring, reduced pain, and faster recovery have made laparoscopy the favored approach over traditional open surgery. The most recent minimally invasive approach is natural orifice transluminal endoscopic surgery (NOTES), which limits morbidity because this surgery does not require incision. This article reviews the history, development, and current and future applications of NOTES in the field of urology.
- Transvesical endoscopic peritoneoscopy: a novel 5 mm port for intra-abdominal scarless surgery.Publication . Lima, E; Rolanda, C; Pêgo, JM; Henriques-Coelho, T; Silva, D; Carvalho, JL; Correia-Pinto, JPURPOSE: Recently various groups reported successful attempts to perform intra-abdominal surgery through a transgastric pathway. We assessed the feasibility and safety of a novel transvesical endoscopic approach to the peritoneal cavity through a 5 mm port in a porcine model. MATERIALS AND METHODS: Transvesical endoscopic peritoneoscopy was performed in 8 anesthetized female pigs, including 3 nonsurvival and 5 survival animals. Under cystoscopic guidance a vesical hole was created on the ventral bladder wall with an open-ended ureteral catheter. An over tube with a luminal diameter of 5.5 mm was placed in the peritoneal cavity, guided by a 0.035-inch guidewire. In all animals we performed peritoneoscopy of the entire abdomen as well as liver biopsy and falciform ligament section. A vesical catheter was placed for 4 days in all survival animals, which were sacrificed by day 15 postoperatively. RESULTS: After a learning curve in the first 3 nonsurvival animals the creation of a vesical hole and placement of the over tube were performed without complication in all survival animals. In these animals we easily introduced an EndoEYEtrade mark into the peritoneal cavity, which provided a view of all intra-abdominal viscera, as well as a 9.8Fr ureteroscope, which allowed simple surgical procedures without complications. In survival experiments all pigs recovered. Necropsy examination revealed complete healing of the vesical hole and no signs of infection or adhesions into the peritoneal cavity. CONCLUSIONS: Transvesical endoscopic peritoneoscopy was technically feasible and it could be safely performed in a porcine model. This study provides encouragement for additional preclinical studies of transvesical surgery with or without combinations with other natural orifices approaches to design new intra-abdominal scarless procedures in what seems to be third generation surgery.
- Primeira determinação de prevalência de doença celíaca numa população portuguesaPublication . Antunes, H; Abreu, I; Nogueira, A; Sá, C; Gonçalves, C; Cleto, P; Garcia, F; Alves, A; Lemos, DThe prevalence of celiac disease is unknown in Portugal. In European countries the prevalence is between 1:200 and 1:400. The incidence obtained through diagnosed cases in the paediatric gastroenterology units in Portugal was 1:3648. To determine the best current celiac disease screening method and its prevalence in a portuguese population, 536 sera of teenagers with 14 years +/- 6 months from Braga town schools were tested as follows: a) total IgA, b) anti-tissue transglutaminase antibodies c) anti-endomysium antibodies (AEA). One female adolescent, with negative AEA and anti-transglutaminase antibodies had a diagnosed celiac disease; this patient was under appropriate diet. Eleven adolescents had positive anti-transglutaminase antibodies and 4 of these had also positive AEA. A jejunal biopsy was carried out on the latter adolescents. Three presented intestinal villous atrophy, 2 a flat mucosa and 1 a moderate atrophy. One female adolescent had a normal mucosa. The prevalence was 1:134, [confidence interval at 95%, 1:53-1:500]. Conclusions: Presently, total IgA with determination of anti-tissue transglutaminase antibodies is apparently the best screening method; it is less expensive test and, given the use of ELISA, less dependent on the observer. The celiac disease prevalence found in the present study falls within the range of prevalence recently found in other European populations, which implies that the celiac disease is under-diagnosed in Portugal.
- Searching the best approach for third-generation cholecystectomyPublication . Rolanda, C; Lima, E; Correia-Pinto, J
- 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.
- 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.
- 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.
- Isotretinoin and inflammatory bowel diseasePublication . Rolanda, C; Macedo, G
- Prosthetic Esophageal Transmural Erosion After Mesh HiatoplastyPublication . Leão, P; Carneiro, T; Oliveira, M; Luís, D; Rolanda, C; Machado, A; Pereira, P; Macedo, G; Gomes, A