Objectives To investigate the causes, theraputic and preventive methods of com- plications associated with transcatheter occlusion of at- rial septal defect ( ASD) using the Amplatzer septal oc- cluder (ASO) in childr...Objectives To investigate the causes, theraputic and preventive methods of com- plications associated with transcatheter occlusion of at- rial septal defect ( ASD) using the Amplatzer septal oc- cluder (ASO) in children. Methods 289 cases un- derwent transcatheter closure of ASD with ASO. Com- plications occurred in 9 cases. The complications in procedure included systemic circulatory systemic air embolism in 2, pulmonary air embolism in 1, pericar- dial tamponade in 1, ASO malposition requiring emer- gency surgical removal in 1, transient atrial extrasysto- les in 1 and sizing balloon rupture in 1 case. 2 cases with postoperative complications were found in the fol- low-up studies. These included perforation of mitral valve and ASO partially dislodged. In this study, 5 children with intraoperative complication received e- mergency therapy including surgical intervention, and others needed only follow-up, as the complications were transient or asymptomatic. Results There were no children death in this study. The 5 cases who re- ceived treatment were completely healing, and the oth- ers with intra - procedure complications were also had no sequela existed. Cases with mitral valve and ASO partially dislodged were still in follow-up studies, as the 2 patients having no symptoms. Conclutions Air embolism were occurred easily in atrial septal defect cases who received ASO therapy. Complications mainly caused by inappropriate operative procedure and some complications needed emergency treatments. Follow-up studies were important to cases with transcatheter oc- clusion therapy.展开更多
Cerebral Venous Sinus Thrombosis (CVST/CSVT) is occlusion of cerebral veins and venous sinuses of brain secondary to blood clot formation resulting in hindrance in the blood drainage system in brain, leading to distur...Cerebral Venous Sinus Thrombosis (CVST/CSVT) is occlusion of cerebral veins and venous sinuses of brain secondary to blood clot formation resulting in hindrance in the blood drainage system in brain, leading to disturbances the internal homeostasis of brain, raised intracranial pressure, cerebral edema, and 50% of cases will have venous infarction or venous hemorrhage (stroke). CVST although being a Rare disorder but may be more common in children than adults with greater risk in neonatal period i.e. first 28 days of life. Here we are discussing a case of Pediatric CVST in a 7-month-old baby boy who presented to Emergency Room (ER) with recurrent discrete episodes of vomiting, fever, seizures, drowsiness and respiratory distress. The fatal outcome in our child was attributed to delayed presentation in a tertiary care center, hence missed early diagnosis and treatment. In this child the CVST could be result of amalgamation of complex underlying ongoing multiple pathological processes: an acute systemic illness like sepsis, severe dehydration, undiagnosed and untreated complex congenital heart disease, tetralogy of fallot with osteum secondum atrial septal defect, worsening the coagulopathy. It takes this case even more unique. This discussion is to bring focus on the importance of knowledge about CVST amongst emergency physicians and primary care physicians, specially managing this rare disorder with flummox presentation mimicking other more common disorders, especially in pediatric and neonatal population where definitive history and chief complaints are often vague and difficult to obtain, making it more difficult to diagnose. We the authors hence reporting this case with intent to spread awareness of CVST, how to doubt it, detect it and then manage it, especially in places like Chhattisgarh, India, where CVST is not so uncommon. We believe early diagnosis, early presentation to tertiary care center with aggressive early treatment can significantly reduce the mortality. Should the parents brought the baby early to any tertiary care center owing to his complex deteriorating symptoms like high grade fever progressed to drowsiness and seizure episodes, could there be a different outcome for this child as well as his parents.展开更多
Congenital heart disease （CHD） is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect （ASD） is one of the most common defects of CHD. Previous studies have demon...Congenital heart disease （CHD） is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect （ASD） is one of the most common defects of CHD. Previous studies have demonstrated that mutations in the transcription factor T-box 20 （TBX20） contribute to congenital ASD. Whole-exome sequencing in combination with a CHD-related gene filter was used to detect a family of three generations with ASD. A novel TBX20 mutation, c.526G〉A （p.D176N）, was identified and co-segregated in all affected members in this family. This mutation was predicted to be deleterious by bioinformatics programs （SIFT, Polyphen2, and MutationTaster）. This mutation was also not presented in the current Single Nucleotide Polymorphism Database （dbSNP） or National Heart, Lung, and Blood Institute （NHLBI） Exome Sequencing Project （ESP）. In conclusion, our finding expands the spectrum of TBX20 mutations and provides additional support that TBX20 plays important roles in cardiac development. Our study also provided a new and cost-effective analysis strategy for the genetic study in small CHD pedigree.展开更多
文摘Objectives To investigate the causes, theraputic and preventive methods of com- plications associated with transcatheter occlusion of at- rial septal defect ( ASD) using the Amplatzer septal oc- cluder (ASO) in children. Methods 289 cases un- derwent transcatheter closure of ASD with ASO. Com- plications occurred in 9 cases. The complications in procedure included systemic circulatory systemic air embolism in 2, pulmonary air embolism in 1, pericar- dial tamponade in 1, ASO malposition requiring emer- gency surgical removal in 1, transient atrial extrasysto- les in 1 and sizing balloon rupture in 1 case. 2 cases with postoperative complications were found in the fol- low-up studies. These included perforation of mitral valve and ASO partially dislodged. In this study, 5 children with intraoperative complication received e- mergency therapy including surgical intervention, and others needed only follow-up, as the complications were transient or asymptomatic. Results There were no children death in this study. The 5 cases who re- ceived treatment were completely healing, and the oth- ers with intra - procedure complications were also had no sequela existed. Cases with mitral valve and ASO partially dislodged were still in follow-up studies, as the 2 patients having no symptoms. Conclutions Air embolism were occurred easily in atrial septal defect cases who received ASO therapy. Complications mainly caused by inappropriate operative procedure and some complications needed emergency treatments. Follow-up studies were important to cases with transcatheter oc- clusion therapy.
文摘Cerebral Venous Sinus Thrombosis (CVST/CSVT) is occlusion of cerebral veins and venous sinuses of brain secondary to blood clot formation resulting in hindrance in the blood drainage system in brain, leading to disturbances the internal homeostasis of brain, raised intracranial pressure, cerebral edema, and 50% of cases will have venous infarction or venous hemorrhage (stroke). CVST although being a Rare disorder but may be more common in children than adults with greater risk in neonatal period i.e. first 28 days of life. Here we are discussing a case of Pediatric CVST in a 7-month-old baby boy who presented to Emergency Room (ER) with recurrent discrete episodes of vomiting, fever, seizures, drowsiness and respiratory distress. The fatal outcome in our child was attributed to delayed presentation in a tertiary care center, hence missed early diagnosis and treatment. In this child the CVST could be result of amalgamation of complex underlying ongoing multiple pathological processes: an acute systemic illness like sepsis, severe dehydration, undiagnosed and untreated complex congenital heart disease, tetralogy of fallot with osteum secondum atrial septal defect, worsening the coagulopathy. It takes this case even more unique. This discussion is to bring focus on the importance of knowledge about CVST amongst emergency physicians and primary care physicians, specially managing this rare disorder with flummox presentation mimicking other more common disorders, especially in pediatric and neonatal population where definitive history and chief complaints are often vague and difficult to obtain, making it more difficult to diagnose. We the authors hence reporting this case with intent to spread awareness of CVST, how to doubt it, detect it and then manage it, especially in places like Chhattisgarh, India, where CVST is not so uncommon. We believe early diagnosis, early presentation to tertiary care center with aggressive early treatment can significantly reduce the mortality. Should the parents brought the baby early to any tertiary care center owing to his complex deteriorating symptoms like high grade fever progressed to drowsiness and seizure episodes, could there be a different outcome for this child as well as his parents.
基金Project supported by the National Natural Science Foundation of China （Nos. 81370204, 81300072, and 81101475） Electronic supplementary materials： The online version of this article （htlp：//dx.doi.org/10.1631/jzus.B1400062） contains supplementary materials, which are available to authorized users
文摘Congenital heart disease （CHD） is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect （ASD） is one of the most common defects of CHD. Previous studies have demonstrated that mutations in the transcription factor T-box 20 （TBX20） contribute to congenital ASD. Whole-exome sequencing in combination with a CHD-related gene filter was used to detect a family of three generations with ASD. A novel TBX20 mutation, c.526G〉A （p.D176N）, was identified and co-segregated in all affected members in this family. This mutation was predicted to be deleterious by bioinformatics programs （SIFT, Polyphen2, and MutationTaster）. This mutation was also not presented in the current Single Nucleotide Polymorphism Database （dbSNP） or National Heart, Lung, and Blood Institute （NHLBI） Exome Sequencing Project （ESP）. In conclusion, our finding expands the spectrum of TBX20 mutations and provides additional support that TBX20 plays important roles in cardiac development. Our study also provided a new and cost-effective analysis strategy for the genetic study in small CHD pedigree.
