BACKGROUND Blue rubber bleb naevus syndrome(BRBNS)is a rare disease that usually presents with multiple venous malformations in the skin and gastrointestinal tract.Lesions located in the gastrointestinal tract always ...BACKGROUND Blue rubber bleb naevus syndrome(BRBNS)is a rare disease that usually presents with multiple venous malformations in the skin and gastrointestinal tract.Lesions located in the gastrointestinal tract always result in chronic gastrointestinal bleeding and severe anemia.The successful management of BRBNS with sirolimus had been reported in many institutions,due to its impact on signaling pathways of angiogenesis.However,the experience in treatment of neonates with BRBNS was limited.CASE SUMMARY A 38-day-old premature female infant born with multiple skin lesions,presented to our center complaining of severe anemia and hematochezia.Laboratory examination demonstrated that hemoglobin was 5.3 g/dL and contrast-enhanced abdominal computed tomography showed multiple low-density space-occupying lesions in the right lobe of the liver.She was diagnosed as having BRBNS based on typical clinical and examination findings.The patient was treated by transfusions twice and hemostatic drugs but symptoms of anemia were difficult to alleviate.A review of BRBNS case reports found that patients had been successfully treated with sirolimus.Then the patient was treated with sirolimus at an average dose of 0.95 mg/m2/d with a target drug level of 10-15 ng/mL.During 28 mo of treatment,the lesion was reduced,hemoglobin returned to normal,and there were no adverse drug reactions.CONCLUSION This case highlights the dosing regimen and plasma concentration in neonates,for the current common empiric dose is high.展开更多
Background Acute kidney injury(AKI)after cardiopulmonary bypass(CPB)is a common complication especially in pedi-atric population.Plasma gelsolin(pGSN)is an anti-inflammatory factor through binding with actin and pro-i...Background Acute kidney injury(AKI)after cardiopulmonary bypass(CPB)is a common complication especially in pedi-atric population.Plasma gelsolin(pGSN)is an anti-inflammatory factor through binding with actin and pro-inflammatory cytokines in circulation.Decrease in pGSN has been reported in some pathologic conditions.The purpose of the study was to determine the alterations of pGSN level in infants and young children after CPB and the role of pGSN as a predictor for the morbidity and severity of post-CPB AKI.Methods Sixty-seven infants and young children at age≤3 years old undergoing CPB were prospectively enrolled.PGSN levels were measured during peri-operative period with enzyme-linked immuno-sorbent assay and normalized with plasma total protein concentration.Other clinical characteristics of the patients were also recorded.Results In patients developing AKI,the normalized pGSN(pGSN_(N))levels significantly decreased at 6 h post-operation and remained low for 24 h post-operation as compared to the patients with non-AKI.PGSNN at 6 h post-operation combining with CPB time presents an excellent predictive value for AKI.Conclusions Decreased pGSN_(N)identifies post-CPB AKI in the patients≤3 years old,and is associated with adverse clini-cal outcomes.The findings suggest that circulating GSN in post-CPB patients may have beneficial effects on diminishing inflammatory responses.展开更多
文摘BACKGROUND Blue rubber bleb naevus syndrome(BRBNS)is a rare disease that usually presents with multiple venous malformations in the skin and gastrointestinal tract.Lesions located in the gastrointestinal tract always result in chronic gastrointestinal bleeding and severe anemia.The successful management of BRBNS with sirolimus had been reported in many institutions,due to its impact on signaling pathways of angiogenesis.However,the experience in treatment of neonates with BRBNS was limited.CASE SUMMARY A 38-day-old premature female infant born with multiple skin lesions,presented to our center complaining of severe anemia and hematochezia.Laboratory examination demonstrated that hemoglobin was 5.3 g/dL and contrast-enhanced abdominal computed tomography showed multiple low-density space-occupying lesions in the right lobe of the liver.She was diagnosed as having BRBNS based on typical clinical and examination findings.The patient was treated by transfusions twice and hemostatic drugs but symptoms of anemia were difficult to alleviate.A review of BRBNS case reports found that patients had been successfully treated with sirolimus.Then the patient was treated with sirolimus at an average dose of 0.95 mg/m2/d with a target drug level of 10-15 ng/mL.During 28 mo of treatment,the lesion was reduced,hemoglobin returned to normal,and there were no adverse drug reactions.CONCLUSION This case highlights the dosing regimen and plasma concentration in neonates,for the current common empiric dose is high.
基金supported by grants from National Natural Science Foundation of China(81100050 to Shan-Shan Shi,81301612 to Xi-Wang Liu)Science and Technology Bureau of Zhejiang Province(2011C23011 to Qiang Shu)+1 种基金Ministry of Education Doctoral Station Foundation(20120101110049 to Qiang Shu)National Key Technology Support Program(2012BAI04B05 to Qiang Shu).
文摘Background Acute kidney injury(AKI)after cardiopulmonary bypass(CPB)is a common complication especially in pedi-atric population.Plasma gelsolin(pGSN)is an anti-inflammatory factor through binding with actin and pro-inflammatory cytokines in circulation.Decrease in pGSN has been reported in some pathologic conditions.The purpose of the study was to determine the alterations of pGSN level in infants and young children after CPB and the role of pGSN as a predictor for the morbidity and severity of post-CPB AKI.Methods Sixty-seven infants and young children at age≤3 years old undergoing CPB were prospectively enrolled.PGSN levels were measured during peri-operative period with enzyme-linked immuno-sorbent assay and normalized with plasma total protein concentration.Other clinical characteristics of the patients were also recorded.Results In patients developing AKI,the normalized pGSN(pGSN_(N))levels significantly decreased at 6 h post-operation and remained low for 24 h post-operation as compared to the patients with non-AKI.PGSNN at 6 h post-operation combining with CPB time presents an excellent predictive value for AKI.Conclusions Decreased pGSN_(N)identifies post-CPB AKI in the patients≤3 years old,and is associated with adverse clini-cal outcomes.The findings suggest that circulating GSN in post-CPB patients may have beneficial effects on diminishing inflammatory responses.
