The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular m...The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract malformations were observed during her mid-gestation anatomic survey. Following referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to have a dilated aortic root and a poorly ossified sternum with mild pectus deformity. After elective termination, single nucleotide polymorphism microarray testing identified a novel 204 kb microdeletion involving the short arm of chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene. Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1 or TGFBR2 gene, our experience suggests a more complex picture of LDS. The study of such cases might further elucidate its pathogenesis.展开更多
Objective: Smoking cessation during pregnancy is a modifiable intervention that can improve maternal and neonatal outcomes. Encouraging smoking cessation is an assessed measure of the Meaningful Use incentives to ensu...Objective: Smoking cessation during pregnancy is a modifiable intervention that can improve maternal and neonatal outcomes. Encouraging smoking cessation is an assessed measure of the Meaningful Use incentives to ensure best practices with the increased use of the electronic medical record (EMR). Physician EMR prompts have been used shown to be successful with preventive care but there is a paucity of data evaluating prompts within obstetrics. The objective of this study is to determine the effectiveness of enhanced smoking cessation prompts in a prenatal EMR. Methods: A retrospective cohort study of an enhanced smoking cessation prompting system within our prenatal EMR was performed. Pregnant women who reported tobacco use at first prenatal visit were included. The number of times a smoking cessation method was offered and documented, the number of documented attempts at smoking cessation, and the final number of cigarettes smoked were compared pre and post the enhancement of the smoking cessation prompting system. Results: 95 patients were included (48 pre-enhancement;47 post-enhancement). Post-enhancement, the documentation of smoking cessation method offered increased (0 vs. 1, p = 0.03) and documentation of smoking cessation attempts increased (1 vs. 2, p = 0.006). There was no change in the final number of cigarettes smoked (p = 0.9). Conclusions: Enhanced prompting systems increase documentation related to smoking cessation with no change in number of cigarettes smoked. In the era of Meaningful Use guidelines which focus on documentation in the EMR, continued research must be done to assure that software enhancements and improved documentation truly result in improved patient care.展开更多
文摘The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract malformations were observed during her mid-gestation anatomic survey. Following referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to have a dilated aortic root and a poorly ossified sternum with mild pectus deformity. After elective termination, single nucleotide polymorphism microarray testing identified a novel 204 kb microdeletion involving the short arm of chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene. Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1 or TGFBR2 gene, our experience suggests a more complex picture of LDS. The study of such cases might further elucidate its pathogenesis.
文摘Objective: Smoking cessation during pregnancy is a modifiable intervention that can improve maternal and neonatal outcomes. Encouraging smoking cessation is an assessed measure of the Meaningful Use incentives to ensure best practices with the increased use of the electronic medical record (EMR). Physician EMR prompts have been used shown to be successful with preventive care but there is a paucity of data evaluating prompts within obstetrics. The objective of this study is to determine the effectiveness of enhanced smoking cessation prompts in a prenatal EMR. Methods: A retrospective cohort study of an enhanced smoking cessation prompting system within our prenatal EMR was performed. Pregnant women who reported tobacco use at first prenatal visit were included. The number of times a smoking cessation method was offered and documented, the number of documented attempts at smoking cessation, and the final number of cigarettes smoked were compared pre and post the enhancement of the smoking cessation prompting system. Results: 95 patients were included (48 pre-enhancement;47 post-enhancement). Post-enhancement, the documentation of smoking cessation method offered increased (0 vs. 1, p = 0.03) and documentation of smoking cessation attempts increased (1 vs. 2, p = 0.006). There was no change in the final number of cigarettes smoked (p = 0.9). Conclusions: Enhanced prompting systems increase documentation related to smoking cessation with no change in number of cigarettes smoked. In the era of Meaningful Use guidelines which focus on documentation in the EMR, continued research must be done to assure that software enhancements and improved documentation truly result in improved patient care.
