Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, ...Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.展开更多
Prekallikrein deficiency is a disorder that often remains undiagnosed. Prekallikrein activates factor XII, which initiates the intrinsic coagulation pathway. Prekallikrein deficiency results in prolonged Partial Throm...Prekallikrein deficiency is a disorder that often remains undiagnosed. Prekallikrein activates factor XII, which initiates the intrinsic coagulation pathway. Prekallikrein deficiency results in prolonged Partial Thromboplastin Time and Activated Clotting Time in absence of anticoagulants or active bleeding. This case report describes the anesthesia management of a patient with Prekallikrein deficiency who underwent cardiac surgery with Cardiopulmonary Bypass for correction of a congenital cardiac malformation. We highlight the importance of understanding the different tests available for the diagnosis of coagulation factors deficiency during administration of heparin in the setting of cardiovascular procedures under general anesthesia.展开更多
Background The connexin43 knockout （Cx43 KO） mouse dies at birth with an enlarged conotruncal region, which leads to the obstruction of the right outflow tract （OFT）. Since myocardialization of the proximal OFT se...Background The connexin43 knockout （Cx43 KO） mouse dies at birth with an enlarged conotruncal region, which leads to the obstruction of the right outflow tract （OFT）. Since myocardialization of the proximal OFT septum is one of the key events during heart development, we investigated the process in the Cx43 KO embryo hearts. Rho associated coiled-coil forming protein kinase 1 （ROCK1）, is a recently found key molecule to regulate the myocardialization of OFT, but its spatiotemporal expression pattern during myocardialization remains unknown. The objective of this study was to investigate the differentially expressed pattern of ROCK1 between Cx43 KO and wild type embryo hearts, and its relationship with the delayed myocardialization in Cx43 KO embryo hearts. Methods Using immunohistochemistry, the processes of myocardiolization were investigated both in Cx43 KO and wild type embryo hearts. The differentially expressed pattern of ROCK1 between Cx43 KO and wildtype embryo hearts was evaluated both at the mRNA and protein level by real-time RT-PCR and immunohistochemistry. Results The expression of α-sarcomeric actin （α-SCA） in the proximal OFT septum of Cx43 KO embryos was delayed. Meanwhile, it was shown that the downregulation of ROCK1 coincided with delayed myocardialization. The expression of ROCK1 protein was mainly limited to the proximal outflow tract septum from embryo day （E） Ell.5 to E15.5. Its expression pattern was similar with that of α-SCA. Real-time RT-PCR found that the expression level of Rock-1 mRNA began at a low level on Ell .5 and reached peak at E13.5 and E14.5. Conclusions ROCK1 may have an important role in the process of myocardialization of the proximal OFT septum. Downregulation of ROCK1 is likely to contribute to the aberrant myocardialization in Cx43 KO embryo hearts.展开更多
Noncompaction of the ventricular myocardium is a rare form of congenital cardiomyopathy with a high incidence of cardiovascular complications. It frequently manifests in an isolated form, namely isolated noncompaction...Noncompaction of the ventricular myocardium is a rare form of congenital cardiomyopathy with a high incidence of cardiovascular complications. It frequently manifests in an isolated form, namely isolated noncompaction of the ventricular myocardium. Not only does noncompaction of the ventricular myocardium associate with other congenital cardiac malformations, but also with other neuromuscular disorders. The purpose of this study was to explore the correlation of hypogenetic lung with myocardial noncompaction in terms of the clinical course of one of our patients.展开更多
文摘Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.
文摘Prekallikrein deficiency is a disorder that often remains undiagnosed. Prekallikrein activates factor XII, which initiates the intrinsic coagulation pathway. Prekallikrein deficiency results in prolonged Partial Thromboplastin Time and Activated Clotting Time in absence of anticoagulants or active bleeding. This case report describes the anesthesia management of a patient with Prekallikrein deficiency who underwent cardiac surgery with Cardiopulmonary Bypass for correction of a congenital cardiac malformation. We highlight the importance of understanding the different tests available for the diagnosis of coagulation factors deficiency during administration of heparin in the setting of cardiovascular procedures under general anesthesia.
基金This work was supported by the grants from the National Natural Science Foundation of China （Nos. 30772337 and 30930096）, the National ＂973＂ Project sponsored by the Ministry of Science and Technology of China （Nos. 2009CB941704 and 2010CB529500）.Acknowledgements： We are grateful to Dr. Cecilia W. Lo, director of Department of Developmental Biology, Pittsburgh University Medical School, for generously providing Cx43 KO mice for this study.
文摘Background The connexin43 knockout （Cx43 KO） mouse dies at birth with an enlarged conotruncal region, which leads to the obstruction of the right outflow tract （OFT）. Since myocardialization of the proximal OFT septum is one of the key events during heart development, we investigated the process in the Cx43 KO embryo hearts. Rho associated coiled-coil forming protein kinase 1 （ROCK1）, is a recently found key molecule to regulate the myocardialization of OFT, but its spatiotemporal expression pattern during myocardialization remains unknown. The objective of this study was to investigate the differentially expressed pattern of ROCK1 between Cx43 KO and wild type embryo hearts, and its relationship with the delayed myocardialization in Cx43 KO embryo hearts. Methods Using immunohistochemistry, the processes of myocardiolization were investigated both in Cx43 KO and wild type embryo hearts. The differentially expressed pattern of ROCK1 between Cx43 KO and wildtype embryo hearts was evaluated both at the mRNA and protein level by real-time RT-PCR and immunohistochemistry. Results The expression of α-sarcomeric actin （α-SCA） in the proximal OFT septum of Cx43 KO embryos was delayed. Meanwhile, it was shown that the downregulation of ROCK1 coincided with delayed myocardialization. The expression of ROCK1 protein was mainly limited to the proximal outflow tract septum from embryo day （E） Ell.5 to E15.5. Its expression pattern was similar with that of α-SCA. Real-time RT-PCR found that the expression level of Rock-1 mRNA began at a low level on Ell .5 and reached peak at E13.5 and E14.5. Conclusions ROCK1 may have an important role in the process of myocardialization of the proximal OFT septum. Downregulation of ROCK1 is likely to contribute to the aberrant myocardialization in Cx43 KO embryo hearts.
文摘Noncompaction of the ventricular myocardium is a rare form of congenital cardiomyopathy with a high incidence of cardiovascular complications. It frequently manifests in an isolated form, namely isolated noncompaction of the ventricular myocardium. Not only does noncompaction of the ventricular myocardium associate with other congenital cardiac malformations, but also with other neuromuscular disorders. The purpose of this study was to explore the correlation of hypogenetic lung with myocardial noncompaction in terms of the clinical course of one of our patients.
