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Rev Bras Ginecol Obstet. 2015;37(3):140-147
DOI 10.1590/S0100-720320150005203
The congenital diaphragmatic hernia is a defect in the formation of the diaphragm, which affects between 1:2,000 and 1:4,000 live births and represents 8% of major congenital anomalies. Medical advances in the last 30 years involving prenatal diagnosis, fetal intervention, neonatal surgical and clinical management have changed the survival of these patients. The historical evolution of these advances helps us to understand the effort in pursuit of better results of this defect, which is often lethal. Perspectives on the use of bioengineering and therapy involving stem cells may bring new hope for fetuses with congenital diaphragmatic hernia.
Summary
Rev Bras Ginecol Obstet. 2015;37(3):140-147
DOI 10.1590/S0100-720320150005203
The congenital diaphragmatic hernia is a defect in the formation of the diaphragm, which affects between 1:2,000 and 1:4,000 live births and represents 8% of major congenital anomalies. Medical advances in the last 30 years involving prenatal diagnosis, fetal intervention, neonatal surgical and clinical management have changed the survival of these patients. The historical evolution of these advances helps us to understand the effort in pursuit of better results of this defect, which is often lethal. Perspectives on the use of bioengineering and therapy involving stem cells may bring new hope for fetuses with congenital diaphragmatic hernia.
Summary
Rev Bras Ginecol Obstet. 2010;32(4):163-168
DOI 10.1590/S0100-72032010000400003
PURPOSE: to evaluate the effectiveness of the IUGR model by uterine artery ligation mimicking placental insufficiency in rats. METHODS: sprague-Dawley rat fetuses were divided into three groups: IUGR (intrauterine growth restriction), with fetuses in the right horn of pregnant rats subjected to right uterine artery ligation at 18.5 days of gestation (term = 22 days); C-IUGR (control of restriction), with control fetuses in the left horn, and EC (external control), with fetuses of intact rats. Animals were harvested by cesarean section at day 21.5 days of gestation. Fetuses were weighed and then sacrificed. The intestine, liver, kidney and placenta were weighed and dissected for morphometric and histological analysis. RESULTS: the morphometric data showed decreased body weight (BW), liver weight (LW) and intestinal weight (IW) of fetuses with IUGR compared to C-IUGR and EC (p<0.001). The placental weight (PW), renal weight (RW) and LW/BW, IW/BW, and RW/BW ratios did not change. IUGR fetuses had decreased kidney thickness (p<0.001) and decreased thickness of the intestinal mucosa and submucosa (p<0.05). Histological evaluation showed reduction of liver glycogen storage in fetuses with IUGR compared to C-IUGR and CE. CONCLUSIONS: the model described was efficient and caused symmetric fetal IUGR with decreased size of most organs, especially the liver, and changes in glycogen stores.
Summary
Rev Bras Ginecol Obstet. 2010;32(4):163-168
DOI 10.1590/S0100-72032010000400003
PURPOSE: to evaluate the effectiveness of the IUGR model by uterine artery ligation mimicking placental insufficiency in rats. METHODS: sprague-Dawley rat fetuses were divided into three groups: IUGR (intrauterine growth restriction), with fetuses in the right horn of pregnant rats subjected to right uterine artery ligation at 18.5 days of gestation (term = 22 days); C-IUGR (control of restriction), with control fetuses in the left horn, and EC (external control), with fetuses of intact rats. Animals were harvested by cesarean section at day 21.5 days of gestation. Fetuses were weighed and then sacrificed. The intestine, liver, kidney and placenta were weighed and dissected for morphometric and histological analysis. RESULTS: the morphometric data showed decreased body weight (BW), liver weight (LW) and intestinal weight (IW) of fetuses with IUGR compared to C-IUGR and EC (p<0.001). The placental weight (PW), renal weight (RW) and LW/BW, IW/BW, and RW/BW ratios did not change. IUGR fetuses had decreased kidney thickness (p<0.001) and decreased thickness of the intestinal mucosa and submucosa (p<0.05). Histological evaluation showed reduction of liver glycogen storage in fetuses with IUGR compared to C-IUGR and CE. CONCLUSIONS: the model described was efficient and caused symmetric fetal IUGR with decreased size of most organs, especially the liver, and changes in glycogen stores.
Summary
Rev Bras Ginecol Obstet. 2010;32(6):260-266
DOI 10.1590/S0100-72032010000600002
PURPOSE: to describe the maternal complications due to therapeutic endoscopic procedures in fetal Medicine performed at an university center in Brazil. METHODS: retrospective observational study including patients treated from April 2007 to May 2010 who underwent laser ablation of placental vessels (LAPV) for severe twin-twin transfusion syndrome (TTTS); fetal tracheal occlusion (FETO) and endoscopic removal of tracheal balloon in cases of severe congenital diaphragmatic hernia (CDH); LAPV with or without bipolar coagulation of the umbilical cord in cases of twin reversed arterial perfusion (TRAP) sequence. The main variables described for each disease/type of surgery were maternal complications and neonatal survival (discharge from nursery). RESULTS: fifty-six patients underwent 70 procedures: Severe TTTS (34 patients; 34 surgeries); severe CDH (16 patients; 30 surgeries), and TRAP sequence (6 patients; 6 surgeries). Among 34 women who underwent LAPV for TTTS, two (2/34=5.9%) experienced amniotic fluid leakage to the peritoneal cavity and seven (7/34=20.6%) miscarried after the procedure. Survival of at least one twin was 64.7% (22/34). Among 30 interventions performed in cases of CDH, there was amniotic fluid leakage into the maternal peritoneal cavity in one patient (1/30=3.3%) and premature preterm rupture of membranes after three (3/30=30%) fetoscopies for removal of the tracheal balloon. Infant survival with discharge from nursery was 43.8% (7/16). Among six cases of TRAP sequence, there was bleeding into the peritoneal cavity after surgery in one patient (1/6=16.7%) and neonatal survival with discharge from nursery was 50% (3/6). CONCLUSIONS: in agreement with the available data in literature, at our center, the benefits related to therapeutic endoscopic interventions for TTTS, CDH and TRAP sequence seem to overcome the risks of maternal complications, which were rarely considered severe.
Summary
Rev Bras Ginecol Obstet. 2010;32(6):260-266
DOI 10.1590/S0100-72032010000600002
PURPOSE: to describe the maternal complications due to therapeutic endoscopic procedures in fetal Medicine performed at an university center in Brazil. METHODS: retrospective observational study including patients treated from April 2007 to May 2010 who underwent laser ablation of placental vessels (LAPV) for severe twin-twin transfusion syndrome (TTTS); fetal tracheal occlusion (FETO) and endoscopic removal of tracheal balloon in cases of severe congenital diaphragmatic hernia (CDH); LAPV with or without bipolar coagulation of the umbilical cord in cases of twin reversed arterial perfusion (TRAP) sequence. The main variables described for each disease/type of surgery were maternal complications and neonatal survival (discharge from nursery). RESULTS: fifty-six patients underwent 70 procedures: Severe TTTS (34 patients; 34 surgeries); severe CDH (16 patients; 30 surgeries), and TRAP sequence (6 patients; 6 surgeries). Among 34 women who underwent LAPV for TTTS, two (2/34=5.9%) experienced amniotic fluid leakage to the peritoneal cavity and seven (7/34=20.6%) miscarried after the procedure. Survival of at least one twin was 64.7% (22/34). Among 30 interventions performed in cases of CDH, there was amniotic fluid leakage into the maternal peritoneal cavity in one patient (1/30=3.3%) and premature preterm rupture of membranes after three (3/30=30%) fetoscopies for removal of the tracheal balloon. Infant survival with discharge from nursery was 43.8% (7/16). Among six cases of TRAP sequence, there was bleeding into the peritoneal cavity after surgery in one patient (1/6=16.7%) and neonatal survival with discharge from nursery was 50% (3/6). CONCLUSIONS: in agreement with the available data in literature, at our center, the benefits related to therapeutic endoscopic interventions for TTTS, CDH and TRAP sequence seem to overcome the risks of maternal complications, which were rarely considered severe.
Summary
Rev Bras Ginecol Obstet. 2011;33(12):381-387
DOI 10.1590/S0100-72032011001200002
PURPOSE: To compare postnatal survival to hospital discharge of fetuses with severe isolated left-sided congenital diaphragmatic hernia, who underwent tracheal occlusion, with that of nonrandomized contemporaneous controls. METHODS: Experimental nonrandomized controlled study, performed from April 2007 to September 2011. Fetuses with severe isolated left-sided congenital diaphragmatic hernia with liver herniation into the chest and lung area-to-head circumference ratio <1.0, who underwent tracheal occlusion (study group) or expectant management (non-randomized contemporaneous controls), were compared in terms of lung area-to-head circumference ratio and observed/expected lung area-to-head circumference ratio (observed/expected lung area-to-head circumference ratio) at the time of diagnosis, gestational age at birth, and survival to hospital discharge. Modifications in lung area-to-head circumference ratio and o/e lung area-to-head circumference ratio after tracheal occlusion were also analyzed. Fisher's exact test, Mann-Whitney's or Wilcoxon's tests were used for the comparisons. RESULTS: There were no significant differences between the Study Group (TO=28) and Controls (n=13) in terms of the lung area-to-head circumference ratio (p=0.709) and the observed/expected lung area-to-head circumference ratio (p=0.5) at the time of diagnosis and gestational age at birth (p=0.146). The survival to hospital discharge was higher (p=0.012) in the tracheal occlusion group (10/28=35.7%) than in controls (0/13=0.0%). There was a significant increase in lung area-to-head circumference ratio (p<0.001) and observed/expected lung area-to-head circumference ratio (p<0.001) between the diagnosis of the congenital diaphragmatic hernia [lung area-to-head circumference ratio: 0.80 (0.40-0.94); observed/expected lung area-to-head circumference ratio: 27.0 (15.3-45.0)], and the day before retrieval of the balloon [lung area-to-head circumference ratio: 1.2 (0.50-1.80); observed/expected lung area-to-head circumference ratio: 40.0 (17.5-60.0)]. CONCLUSIONS: There was a significant improvement in the survival rate to hospital discharge of fetuses with severe isolated left-sided congenital diaphragmatic hernia, who underwent tracheal occlusion in comparison to nonrandomized contemporaneous controls.
Summary
Rev Bras Ginecol Obstet. 2011;33(12):381-387
DOI 10.1590/S0100-72032011001200002
PURPOSE: To compare postnatal survival to hospital discharge of fetuses with severe isolated left-sided congenital diaphragmatic hernia, who underwent tracheal occlusion, with that of nonrandomized contemporaneous controls. METHODS: Experimental nonrandomized controlled study, performed from April 2007 to September 2011. Fetuses with severe isolated left-sided congenital diaphragmatic hernia with liver herniation into the chest and lung area-to-head circumference ratio <1.0, who underwent tracheal occlusion (study group) or expectant management (non-randomized contemporaneous controls), were compared in terms of lung area-to-head circumference ratio and observed/expected lung area-to-head circumference ratio (observed/expected lung area-to-head circumference ratio) at the time of diagnosis, gestational age at birth, and survival to hospital discharge. Modifications in lung area-to-head circumference ratio and o/e lung area-to-head circumference ratio after tracheal occlusion were also analyzed. Fisher's exact test, Mann-Whitney's or Wilcoxon's tests were used for the comparisons. RESULTS: There were no significant differences between the Study Group (TO=28) and Controls (n=13) in terms of the lung area-to-head circumference ratio (p=0.709) and the observed/expected lung area-to-head circumference ratio (p=0.5) at the time of diagnosis and gestational age at birth (p=0.146). The survival to hospital discharge was higher (p=0.012) in the tracheal occlusion group (10/28=35.7%) than in controls (0/13=0.0%). There was a significant increase in lung area-to-head circumference ratio (p<0.001) and observed/expected lung area-to-head circumference ratio (p<0.001) between the diagnosis of the congenital diaphragmatic hernia [lung area-to-head circumference ratio: 0.80 (0.40-0.94); observed/expected lung area-to-head circumference ratio: 27.0 (15.3-45.0)], and the day before retrieval of the balloon [lung area-to-head circumference ratio: 1.2 (0.50-1.80); observed/expected lung area-to-head circumference ratio: 40.0 (17.5-60.0)]. CONCLUSIONS: There was a significant improvement in the survival rate to hospital discharge of fetuses with severe isolated left-sided congenital diaphragmatic hernia, who underwent tracheal occlusion in comparison to nonrandomized contemporaneous controls.
Summary
Rev Bras Ginecol Obstet. 2010;32(1):47-54
DOI 10.1590/S0100-72032010000100008
ABSTRACT About 1% of all pregnancies present structural anomalies. During the last three decades, various experimental studies in large animals, associated with the technological advance of diagnostic imaging and fetoscopy equipment, have led to great progress in the knowledge of the pathophysiology of various congenital defects. Such knowledge applied to intrauterine correction of abnormalities has transformed the natural history of several previously fatal diseases, leading to a considerable number of survivors. Fetal intervention, such as open fetal surgery, may be indicated in meningomyelocele or in congenital cystic adenomatoid malformation, and in sacrococcygeal teratoma, which lead to secondary fetal hydropsy. Besides, minimally invasive procedures using fetoscopy may have application in congenital diaphragmatic hernia, in feto-fetal transfusion, in twin pregnancies with an acardiac fetus, in the posterior urethral valve, and in hypoplasia of the cardiac chambers, with good results. Even though open fetal surgery and minimally invasive procedures are still experimental and still need to be fully validated, a correct echographic diagnosis and the patient's referral to tertiary centers providing multidisciplinary fetal care contribute to the survival of fetuses with congenital diseases of usually fatal evolution.
Summary
Rev Bras Ginecol Obstet. 2010;32(1):47-54
DOI 10.1590/S0100-72032010000100008
ABSTRACT About 1% of all pregnancies present structural anomalies. During the last three decades, various experimental studies in large animals, associated with the technological advance of diagnostic imaging and fetoscopy equipment, have led to great progress in the knowledge of the pathophysiology of various congenital defects. Such knowledge applied to intrauterine correction of abnormalities has transformed the natural history of several previously fatal diseases, leading to a considerable number of survivors. Fetal intervention, such as open fetal surgery, may be indicated in meningomyelocele or in congenital cystic adenomatoid malformation, and in sacrococcygeal teratoma, which lead to secondary fetal hydropsy. Besides, minimally invasive procedures using fetoscopy may have application in congenital diaphragmatic hernia, in feto-fetal transfusion, in twin pregnancies with an acardiac fetus, in the posterior urethral valve, and in hypoplasia of the cardiac chambers, with good results. Even though open fetal surgery and minimally invasive procedures are still experimental and still need to be fully validated, a correct echographic diagnosis and the patient's referral to tertiary centers providing multidisciplinary fetal care contribute to the survival of fetuses with congenital diseases of usually fatal evolution.
Summary
Rev Bras Ginecol Obstet. 1999;21(8):475-479
DOI 10.1590/S0100-72031999000800008
SUMMARY Purpose: to evaluate the role of prenatal diagnosis of gastroschisis in the quality of assistance to and in the evolution of neonates with gastroschisis. Methods: a retrospective survey of 25 charts of neonates with gastroschisis treated at the State University of Campinas, between January 1989 and June 1998. Results: comparing the groups with prenatal (PN) and neonatal (NN) diagnosis, no differences regarding incidence of prematurity, birth weight and relations hip between weight and gestational age were observed. The median time from birth to surgery was 5 h. Such interval was shorter in the PN than the NN group (2.25 h versus 13 h; p<0.05). Primary closure of the defect was achieved in 17 neonates (68%) of both groups. Although this difference was not statistically significant, survival was higher among infants of the PN group (85.7% versus 45.5%). Conclusions: prenatal diagnosis of gastroschisis contributes favorably to improve perinatal assistance, resulting in reduced mortality of these children.
Summary
Rev Bras Ginecol Obstet. 1999;21(8):475-479
DOI 10.1590/S0100-72031999000800008
SUMMARY Purpose: to evaluate the role of prenatal diagnosis of gastroschisis in the quality of assistance to and in the evolution of neonates with gastroschisis. Methods: a retrospective survey of 25 charts of neonates with gastroschisis treated at the State University of Campinas, between January 1989 and June 1998. Results: comparing the groups with prenatal (PN) and neonatal (NN) diagnosis, no differences regarding incidence of prematurity, birth weight and relations hip between weight and gestational age were observed. The median time from birth to surgery was 5 h. Such interval was shorter in the PN than the NN group (2.25 h versus 13 h; p<0.05). Primary closure of the defect was achieved in 17 neonates (68%) of both groups. Although this difference was not statistically significant, survival was higher among infants of the PN group (85.7% versus 45.5%). Conclusions: prenatal diagnosis of gastroschisis contributes favorably to improve perinatal assistance, resulting in reduced mortality of these children.
Summary
Rev Bras Ginecol Obstet. 2009;31(11):540-546
DOI 10.1590/S0100-72032009001100003
PURPOSE: to verify the association between ultrasonographic signs during gestation and post-delivery evolution in fetuses with bilateral obstructive uropathies, followed up in an expectant way. METHODS: fetuses with bilateral obstructive uropathies presenting severe oligoamnios and narrow thorax have been compared with fetuses with bilateral obstructive uropathies without those alterations, concerning the presence or absence of cysts in both kidneys, and the presence or absence of parenchymal hyperechogenicity in both kidneys. Cases of neonatal death were compared with cases of neonatal discharge from the nursery, regarding the same renal echographic aspects mentioned above, the presence of severe oligoamnios and narrow thorax. The sensitivity, specificity, positive and negative predictive value of the presence of bilateral renal cysts, bilateral renal hyperechogenicity, severe oligoamnios and narrow fetal thorax for the neonatal death were calculated. RESULTS: severe oligoamnios and narrow thorax were more frequent (p=0.03; p<0.001) in fetuses with bilateral renal cysts, as compared to those with echographically normal renal parenchyma. Neonatal death was more frequent among cases with severe oligoamnios (p<0.001), narrow thorax (p<0.001) and bilateral renal cysts (p<0.002), when respectively compared with cases without those alterations. The best values of sensitivity, specificity, positive and negative predictive value for the death of neonatal/breastfeeding infants were obtained using the echographic aspect of narrow thorax, and were 81.8, 100, 100 and 79.3%, respectively. CONCLUSIONS: in cases of fetuses with bilateral obstructive uropathies followed up in an expectant way, the ultrasonographic signs more associated to bad prognosis are severe oligoamnios, narrow fetal thorax and presence of bilateral renal cysts.
Summary
Rev Bras Ginecol Obstet. 2009;31(11):540-546
DOI 10.1590/S0100-72032009001100003
PURPOSE: to verify the association between ultrasonographic signs during gestation and post-delivery evolution in fetuses with bilateral obstructive uropathies, followed up in an expectant way. METHODS: fetuses with bilateral obstructive uropathies presenting severe oligoamnios and narrow thorax have been compared with fetuses with bilateral obstructive uropathies without those alterations, concerning the presence or absence of cysts in both kidneys, and the presence or absence of parenchymal hyperechogenicity in both kidneys. Cases of neonatal death were compared with cases of neonatal discharge from the nursery, regarding the same renal echographic aspects mentioned above, the presence of severe oligoamnios and narrow thorax. The sensitivity, specificity, positive and negative predictive value of the presence of bilateral renal cysts, bilateral renal hyperechogenicity, severe oligoamnios and narrow fetal thorax for the neonatal death were calculated. RESULTS: severe oligoamnios and narrow thorax were more frequent (p=0.03; p<0.001) in fetuses with bilateral renal cysts, as compared to those with echographically normal renal parenchyma. Neonatal death was more frequent among cases with severe oligoamnios (p<0.001), narrow thorax (p<0.001) and bilateral renal cysts (p<0.002), when respectively compared with cases without those alterations. The best values of sensitivity, specificity, positive and negative predictive value for the death of neonatal/breastfeeding infants were obtained using the echographic aspect of narrow thorax, and were 81.8, 100, 100 and 79.3%, respectively. CONCLUSIONS: in cases of fetuses with bilateral obstructive uropathies followed up in an expectant way, the ultrasonographic signs more associated to bad prognosis are severe oligoamnios, narrow fetal thorax and presence of bilateral renal cysts.