Adrenocorticotropic hormone is recommended worldwide as an initial therapy for infantile spasms. However, infantile spasms in about 50% of children cannot be fully controlled by adrenocorticotropic hormone monotherapy...Adrenocorticotropic hormone is recommended worldwide as an initial therapy for infantile spasms. However, infantile spasms in about 50% of children cannot be fully controlled by adrenocorticotropic hormone monotherapy, seizures recur in 33% of patients who initially respond to adrenocorticotropic hormone monotherapy, and side effects are relatively common during adrenocorticotropic hormone treatment. Topiramate, vitamin B6, and immunoglobulin are effective in some children with infantile spasms. In the present study, we hypothesized that combined therapy with adrenocorticotropic hormone, topiramate, vitamin B6, and immunoglobulin would effectively treat infantile spasms and have mild adverse effects. Thus, 51 children newly diagnosed with West syndrome including infantile spasms were enrolled and underwent polytherapy with the four drugs. Electroencephalographic hypsarrhythmia was significantly improved in a majority of patients, and these patients were seizure-free, had mild side effects, and low recurrence rates. The overall rates of effective treatment and loss of seizures were significantly higher in cryptogenic children compared with symptomatic children. The mean time to loss of seizures in cryptogenic children was significantly shorter than in symptomatic patients. These findings indicate that initial polytherapy with adrenocorticotropic hormone, topiramate, vitamin Be, and immunoglobulin effectively improves the prognosis of infantile spasms, and its effects were superior in cryptogenic children to symptomatic children.展开更多
Kounis syndrome is defined as the coexistence of acute coronary syndromes with situations associated with allergy or hypersensitivity,as well as anaphylactic or anaphylactoid reactions,to a variety of medical conditio...Kounis syndrome is defined as the coexistence of acute coronary syndromes with situations associated with allergy or hypersensitivity,as well as anaphylactic or anaphylactoid reactions,to a variety of medical conditions,environmental and medication exposures.We report a case of Kounis-Zavras syndrome type Ⅰ variant in the setting of aspirin-induced asthma,or the Samter-Beer triad of asthma,nasal polyps and aspirin allergy.When there is a young individual with no predisposing factors of atherosclerosis and apparent coronary lesion,with or without electrocardiography and biochemical markers of infarction,the possibility of Kounis syndrome should be kept in mind.展开更多
Background Infantile epileptic spasms syndrome(IESS)is a serious disease in infants,and it usually evolves to other epilepsy types or syndromes,especially refractory or super-refractory focal epilepsies.Although adren...Background Infantile epileptic spasms syndrome(IESS)is a serious disease in infants,and it usually evolves to other epilepsy types or syndromes,especially refractory or super-refractory focal epilepsies.Although adrenocorticotropic hormone(ACTH)is one of the first-line and effective treatment plans for IESS,it has serious side effects and is not sufficiently effective.Methods A retrospective study of the clinical outcomes of ACTH combined with magnesium sulfate(MgSO_(4))therapy for IESS in two hospital centers was conducted.The major outcome of the single and combined treatment was evaluated by changes in seizure frequency and improvements in hypsarrhythmia electroencephalography(EEG).To reduce the confounding bias between the two groups,we used SPSS for the propensity score matching(PSM)analysis.Results We initially recruited 1205 IESS patients from two Chinese hospitals and treated them with ACTH combined with MgSO_(4) and ACTH alone.Only 1005 patients were enrolled in the treatment(ACTH combined with MgSO_(4):744,ACTH:261),and both treatment plans had a more than 55% response rate.However,compared to patients treated with ACTH alone,those patients treated with ACTH combined with MgSO_(4) had better performance in terms of the seizure frequency and hypsarrhythmia EEG.After PSM,the two groups also showed significant differences in responder rate[70.8%(95% confidence interval,CI)=66.7%–74.8%)vs.53.8%(95%CI=47.4%–60.2%),P<0.001],seizure frequency(P<0.001)and hypsarrhythmia EEG resolution(P<0.001).Notably,multivariate analysis revealed that the lead time to treatment and the number of antiseizure medications taken before treatment were two factors that may affect the clinical outcome.Patients with less than 3 months of lead time responded to the treatment much better than those with>3 months(P<0.05).In addition,the overall incidence of adverse reactions in the ACTH combined with MgSO_(4) group was much lower than that in the ACTH group(31.4%vs.63.1%,P<0.001).During the treatment,only infection(P=0.045)and hypertension(P=0.025)were significantly different between the two groups,and no baby died.Conclusion Our findings support that ACTH combined with MgSO_(4) is a more effective short-term treatment protocol for patients with IESS than ACTH alone,especially for those patients with short lead times to treatment.展开更多
Background Sandhoff disease(SD)i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy,psychomotor retardation and developmental delay.However,infantile SD with onset of infantile ep...Background Sandhoff disease(SD)i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy,psychomotor retardation and developmental delay.However,infantile SD with onset of infantile epilepsy spasm syndrome(IESS)is extremely rare.Case presentation The case presented here was a 22-month-old boy,who presented with IESS and psychomotor retardation/regression at 6 months of age.The patient showed progressive aggravation of seizures and excessive startle responses.The whole exome sequencing data,which initially revealed negative results,were reanalyzed and indicated a homozygous mutation at the c.1613+4del splice site of the HEXB gene.The activities ofβ-hexosaminidase A and total hexosaminidase were significantly decreased.The fundus examination showed cherry red spots at the macula.Conclusions IESS can be an epileptic phenotype of infantile SD.Clinical phenotypes should be adequately collected in genetic testing.In the case of negative sequencing results,gene variant reanalysis can be performed when the patients show clinically suspicious indications.展开更多
BACKGROUND Acute stent thrombosis(AST)is a serious complication of percutaneous coronary intervention(PCI).The causes of AST include the use of stents of inappropriate diameters,multiple overlapping stents,or excessiv...BACKGROUND Acute stent thrombosis(AST)is a serious complication of percutaneous coronary intervention(PCI).The causes of AST include the use of stents of inappropriate diameters,multiple overlapping stents,or excessively long stents;incomplete stent expansion;poor stent adhesion;incomplete coverage of dissection;formation of thrombosis or intramural hematomas;vascular injury secondary to intraoperative mechanical manipulation;insufficient dose administration of postoperative antiplatelet medications;and resistance to antiplatelet drugs.Cases of AST secondary to coronary artery spasms are rare,with only a few reports in the literature.CASE SUMMARY A 55-year-old man was admitted to the hospital with a chief complaint of back pain for 2 d.He was diagnosed with coronary heart disease and acute myocardial infarction(AMI)based on electrocardiography results and creatinine kinase myocardial band,troponin I,and troponin T levels.A 2.5 mm×33.0 mm drugeluting stent was inserted into the occluded portion of the right coronary artery.Aspirin,clopidogrel,and atorvastatin were started.Six days later,the patient developed AST after taking a bath in the morning.Repeat coronary angiography showed occlusion of the proximal stent,and intravascular ultrasound showed severe coronary artery spasms.The patient’s AST was thought to be caused by coronary artery spasms and treated with percutaneous transluminal coronary angioplasty.Postoperatively,he was administered diltiazem to inhibit coronary artery spasms and prevent future episodes of AST.He survived and reported no discomfort at the 2-mo follow-up after the operation and initiation of drug treatment.CONCLUSION Coronary spasms can cause both AMI and AST.For patients who exhibit coronary spasms during PCI,diltiazem administration could reduce spasms and prevent future AST.展开更多
A 24-year-old healthy man consulted to our center because of typical on-and-off chest-pain and an electrocardiogram showing ST-segment elevation in inferior leads. An urgent coronary angiography showed angiographicall...A 24-year-old healthy man consulted to our center because of typical on-and-off chest-pain and an electrocardiogram showing ST-segment elevation in inferior leads. An urgent coronary angiography showed angiographically normal coronary arteries. Cardiovascular magnetic resonance imaging confirmed acute myocarditis. Although acute myocarditis triggering coronary spasm is an uncommon association, it is important to recognize it, particularly for the management for those patients presenting with ST-segment elevation and suspect myocardial infarction and angiographically normal coronary arteries. The present report highlights the role of cardiovascular magnetic resonance imaging to identify acute myocarditis as the underlying cause.展开更多
文摘Adrenocorticotropic hormone is recommended worldwide as an initial therapy for infantile spasms. However, infantile spasms in about 50% of children cannot be fully controlled by adrenocorticotropic hormone monotherapy, seizures recur in 33% of patients who initially respond to adrenocorticotropic hormone monotherapy, and side effects are relatively common during adrenocorticotropic hormone treatment. Topiramate, vitamin B6, and immunoglobulin are effective in some children with infantile spasms. In the present study, we hypothesized that combined therapy with adrenocorticotropic hormone, topiramate, vitamin B6, and immunoglobulin would effectively treat infantile spasms and have mild adverse effects. Thus, 51 children newly diagnosed with West syndrome including infantile spasms were enrolled and underwent polytherapy with the four drugs. Electroencephalographic hypsarrhythmia was significantly improved in a majority of patients, and these patients were seizure-free, had mild side effects, and low recurrence rates. The overall rates of effective treatment and loss of seizures were significantly higher in cryptogenic children compared with symptomatic children. The mean time to loss of seizures in cryptogenic children was significantly shorter than in symptomatic patients. These findings indicate that initial polytherapy with adrenocorticotropic hormone, topiramate, vitamin Be, and immunoglobulin effectively improves the prognosis of infantile spasms, and its effects were superior in cryptogenic children to symptomatic children.
文摘Kounis syndrome is defined as the coexistence of acute coronary syndromes with situations associated with allergy or hypersensitivity,as well as anaphylactic or anaphylactoid reactions,to a variety of medical conditions,environmental and medication exposures.We report a case of Kounis-Zavras syndrome type Ⅰ variant in the setting of aspirin-induced asthma,or the Samter-Beer triad of asthma,nasal polyps and aspirin allergy.When there is a young individual with no predisposing factors of atherosclerosis and apparent coronary lesion,with or without electrocardiography and biochemical markers of infarction,the possibility of Kounis syndrome should be kept in mind.
基金funded by the Capital’s Funds for Health Improvement and Research(No.2022-1-5081)National Key Research and Development Program of China(No.2016YFC1000707).
文摘Background Infantile epileptic spasms syndrome(IESS)is a serious disease in infants,and it usually evolves to other epilepsy types or syndromes,especially refractory or super-refractory focal epilepsies.Although adrenocorticotropic hormone(ACTH)is one of the first-line and effective treatment plans for IESS,it has serious side effects and is not sufficiently effective.Methods A retrospective study of the clinical outcomes of ACTH combined with magnesium sulfate(MgSO_(4))therapy for IESS in two hospital centers was conducted.The major outcome of the single and combined treatment was evaluated by changes in seizure frequency and improvements in hypsarrhythmia electroencephalography(EEG).To reduce the confounding bias between the two groups,we used SPSS for the propensity score matching(PSM)analysis.Results We initially recruited 1205 IESS patients from two Chinese hospitals and treated them with ACTH combined with MgSO_(4) and ACTH alone.Only 1005 patients were enrolled in the treatment(ACTH combined with MgSO_(4):744,ACTH:261),and both treatment plans had a more than 55% response rate.However,compared to patients treated with ACTH alone,those patients treated with ACTH combined with MgSO_(4) had better performance in terms of the seizure frequency and hypsarrhythmia EEG.After PSM,the two groups also showed significant differences in responder rate[70.8%(95% confidence interval,CI)=66.7%–74.8%)vs.53.8%(95%CI=47.4%–60.2%),P<0.001],seizure frequency(P<0.001)and hypsarrhythmia EEG resolution(P<0.001).Notably,multivariate analysis revealed that the lead time to treatment and the number of antiseizure medications taken before treatment were two factors that may affect the clinical outcome.Patients with less than 3 months of lead time responded to the treatment much better than those with>3 months(P<0.05).In addition,the overall incidence of adverse reactions in the ACTH combined with MgSO_(4) group was much lower than that in the ACTH group(31.4%vs.63.1%,P<0.001).During the treatment,only infection(P=0.045)and hypertension(P=0.025)were significantly different between the two groups,and no baby died.Conclusion Our findings support that ACTH combined with MgSO_(4) is a more effective short-term treatment protocol for patients with IESS than ACTH alone,especially for those patients with short lead times to treatment.
基金funded by the Capital’s Funds for Health Improvement and Research(No.2022-1-5081).
文摘Background Sandhoff disease(SD)i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy,psychomotor retardation and developmental delay.However,infantile SD with onset of infantile epilepsy spasm syndrome(IESS)is extremely rare.Case presentation The case presented here was a 22-month-old boy,who presented with IESS and psychomotor retardation/regression at 6 months of age.The patient showed progressive aggravation of seizures and excessive startle responses.The whole exome sequencing data,which initially revealed negative results,were reanalyzed and indicated a homozygous mutation at the c.1613+4del splice site of the HEXB gene.The activities ofβ-hexosaminidase A and total hexosaminidase were significantly decreased.The fundus examination showed cherry red spots at the macula.Conclusions IESS can be an epileptic phenotype of infantile SD.Clinical phenotypes should be adequately collected in genetic testing.In the case of negative sequencing results,gene variant reanalysis can be performed when the patients show clinically suspicious indications.
基金Supported by the National Natural Science Foundation of China,No. 82000252
文摘BACKGROUND Acute stent thrombosis(AST)is a serious complication of percutaneous coronary intervention(PCI).The causes of AST include the use of stents of inappropriate diameters,multiple overlapping stents,or excessively long stents;incomplete stent expansion;poor stent adhesion;incomplete coverage of dissection;formation of thrombosis or intramural hematomas;vascular injury secondary to intraoperative mechanical manipulation;insufficient dose administration of postoperative antiplatelet medications;and resistance to antiplatelet drugs.Cases of AST secondary to coronary artery spasms are rare,with only a few reports in the literature.CASE SUMMARY A 55-year-old man was admitted to the hospital with a chief complaint of back pain for 2 d.He was diagnosed with coronary heart disease and acute myocardial infarction(AMI)based on electrocardiography results and creatinine kinase myocardial band,troponin I,and troponin T levels.A 2.5 mm×33.0 mm drugeluting stent was inserted into the occluded portion of the right coronary artery.Aspirin,clopidogrel,and atorvastatin were started.Six days later,the patient developed AST after taking a bath in the morning.Repeat coronary angiography showed occlusion of the proximal stent,and intravascular ultrasound showed severe coronary artery spasms.The patient’s AST was thought to be caused by coronary artery spasms and treated with percutaneous transluminal coronary angioplasty.Postoperatively,he was administered diltiazem to inhibit coronary artery spasms and prevent future episodes of AST.He survived and reported no discomfort at the 2-mo follow-up after the operation and initiation of drug treatment.CONCLUSION Coronary spasms can cause both AMI and AST.For patients who exhibit coronary spasms during PCI,diltiazem administration could reduce spasms and prevent future AST.
文摘A 24-year-old healthy man consulted to our center because of typical on-and-off chest-pain and an electrocardiogram showing ST-segment elevation in inferior leads. An urgent coronary angiography showed angiographically normal coronary arteries. Cardiovascular magnetic resonance imaging confirmed acute myocarditis. Although acute myocarditis triggering coronary spasm is an uncommon association, it is important to recognize it, particularly for the management for those patients presenting with ST-segment elevation and suspect myocardial infarction and angiographically normal coronary arteries. The present report highlights the role of cardiovascular magnetic resonance imaging to identify acute myocarditis as the underlying cause.
