BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations.It was recently described in 2005,and today at least six different su...BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations.It was recently described in 2005,and today at least six different subtypes have been identified.Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities,with specific arterial tortuosity at any site.The differential diagnosis of LDS includes atypical Marfan syndrome,vascular Ehlers-Danlos syndrome,Shprintzen-Goldberg craniosynostosis,and familial aortic aneurysm and dissection syndrome.CASE SUMMARY We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal pain.Computed tomography revealed vascular tortuosity in almost every abdominal vein.CONCLUSION This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies,underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these patients.Differential diagnosis,clinical presentation and treatment options for this syndrome are discussed in this article.展开更多
In clinical practice,a variety of syndromes are associated with cardiovascular disease and have characteristic findings.Most of them are an autosomal dominant genetic disorder and have different types of cardiovascula...In clinical practice,a variety of syndromes are associated with cardiovascular disease and have characteristic findings.Most of them are an autosomal dominant genetic disorder and have different types of cardiovascular abnormalities,including electrocardiographic conduction defects,arrhythmias,cardiomyopathy,vascular and valvular diseases,cardiac septal defects,and pulmonary problems.There is a growing need for physicians to pay more attention to these syndromes.展开更多
The present study was conducted to investigate the effect of gamma irradiation on white spot syndrome virus （WS SV）. White spot syndrome virus is a pathogen of major economic importance in cultured penaeid shrimp in...The present study was conducted to investigate the effect of gamma irradiation on white spot syndrome virus （WS SV）. White spot syndrome virus is a pathogen of major economic importance in cultured penaeid shrimp industries. White spot disease can cause mortalities reaching 100% within 3-10 days of gross signs appearing. During the period of culture, immunostimulant agents and vaccines may provide potential methods to protect shrimps from opportunistic and pathogenic microrganisms. In this study, firstly, WSSV was isolated from infected shrimp and then multiplied in crayfish. WSSV was purified from the infected crayfish haemolymph by sucrose gradient and confirmed by transmission electron microscopy. In vivo virus titration was performed in shrimp, Penaeus semisulcatus. The LD50 of live virus stock was calculated 1054/mL. Shrimp post-larvae （1-2 g） were treated with gamma-irradiated （different doses） WSSV （10^o to 10^-4 dilutions） for a period of 10 days. The dose/survival curve for irradiated and un-irradiated WSSV was drawn; the optimum dose range for inactivation of WSSV and unaltered antigenicity was obtained 14- 15 kGy. This preliminary information suggests that shrimp appear to benefit from treatment with gamma- irradiated WSSV especially at 14-15 KGy.展开更多
Loeys-Dietz syndrome （LDS, OMIM #609192） is a recently recognized connective tissue disorder with clinical characteristics similar to Marfan syndrome. Aggressive aortic pathologies in LDS makes timely diagnosis and ...Loeys-Dietz syndrome （LDS, OMIM #609192） is a recently recognized connective tissue disorder with clinical characteristics similar to Marfan syndrome. Aggressive aortic pathologies in LDS makes timely diagnosis and surgical intervention crucial compared to other genetic syndromes. We report a young man with LDS confirmed by genetic testing who twice underwent surgical operations to repair aortic aneurysm.展开更多
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
Background and Aims:Coronavirus disease 2019(COVID-19)is a new respiratory infectious disease caused by severe acute respiratory syndrome coronavirus-2(commonly known as SARS-CoV-2)with multiple organ injuries.The aim...Background and Aims:Coronavirus disease 2019(COVID-19)is a new respiratory infectious disease caused by severe acute respiratory syndrome coronavirus-2(commonly known as SARS-CoV-2)with multiple organ injuries.The aim of this study was to analyze COVID-19-associated liver dysfunction(LD),its association with the risk of death and prognosis after discharge.Methods:Three-hundred and fifty-five COVID-19 patients were recruited.Clinical data were collected from electronic medical records.LD was evaluated and its prognosis was tracked.The association between LD and the risk of death was analyzed.Results:Of the 355 COVID-19 patients,211 had mild disease,88 had severe disease,and 51 had critically ill disease.On admission,223(62.8%)patients presented with hypoproteinemia,151(42.5%)with cholestasis,and 101(28.5%)with hepatocellular injury.As expected,LD was more common in critically ill patients.By multivariate logistic regression,male sex,older age and lymphopenia were three important independent risk factors predicting LD among COVID-19 patients.Risk of death analysis showed that the fatality rate was higher in patients with hypoproteinemia than in those without hypoproteinemia(relative risk=9.471,p<0.01).Moreover,the fatality rate was higher in patients with cholestasis than those without cholestasis(relative risk=2.182,p<0.05).Follow-up observation found that more than one hepatic functional index of two-third patients remained abnormal at 14 days after discharge.Conclusions:LD at early disease stage elevates the risk of death of COVID-19 patients.COVID-19-associated LD does not recover completely by 14 days after discharge.展开更多
文摘BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations.It was recently described in 2005,and today at least six different subtypes have been identified.Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities,with specific arterial tortuosity at any site.The differential diagnosis of LDS includes atypical Marfan syndrome,vascular Ehlers-Danlos syndrome,Shprintzen-Goldberg craniosynostosis,and familial aortic aneurysm and dissection syndrome.CASE SUMMARY We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal pain.Computed tomography revealed vascular tortuosity in almost every abdominal vein.CONCLUSION This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies,underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these patients.Differential diagnosis,clinical presentation and treatment options for this syndrome are discussed in this article.
文摘In clinical practice,a variety of syndromes are associated with cardiovascular disease and have characteristic findings.Most of them are an autosomal dominant genetic disorder and have different types of cardiovascular abnormalities,including electrocardiographic conduction defects,arrhythmias,cardiomyopathy,vascular and valvular diseases,cardiac septal defects,and pulmonary problems.There is a growing need for physicians to pay more attention to these syndromes.
基金Supported by the Nuclear Science and Technology Research Institute,Karaj,Iran(No.A87A061,2009)
文摘The present study was conducted to investigate the effect of gamma irradiation on white spot syndrome virus （WS SV）. White spot syndrome virus is a pathogen of major economic importance in cultured penaeid shrimp industries. White spot disease can cause mortalities reaching 100% within 3-10 days of gross signs appearing. During the period of culture, immunostimulant agents and vaccines may provide potential methods to protect shrimps from opportunistic and pathogenic microrganisms. In this study, firstly, WSSV was isolated from infected shrimp and then multiplied in crayfish. WSSV was purified from the infected crayfish haemolymph by sucrose gradient and confirmed by transmission electron microscopy. In vivo virus titration was performed in shrimp, Penaeus semisulcatus. The LD50 of live virus stock was calculated 1054/mL. Shrimp post-larvae （1-2 g） were treated with gamma-irradiated （different doses） WSSV （10^o to 10^-4 dilutions） for a period of 10 days. The dose/survival curve for irradiated and un-irradiated WSSV was drawn; the optimum dose range for inactivation of WSSV and unaltered antigenicity was obtained 14- 15 kGy. This preliminary information suggests that shrimp appear to benefit from treatment with gamma- irradiated WSSV especially at 14-15 KGy.
文摘Loeys-Dietz syndrome （LDS, OMIM #609192） is a recently recognized connective tissue disorder with clinical characteristics similar to Marfan syndrome. Aggressive aortic pathologies in LDS makes timely diagnosis and surgical intervention crucial compared to other genetic syndromes. We report a young man with LDS confirmed by genetic testing who twice underwent surgical operations to repair aortic aneurysm.
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.
基金upported by the National Natural Science Foundation of China(Grant Number:81630084)the National Natural Science Foundation Incubation Program of the Second Affiliated Hospital of Anhui Medical University(Grant Number:2019GQFY06).
文摘Background and Aims:Coronavirus disease 2019(COVID-19)is a new respiratory infectious disease caused by severe acute respiratory syndrome coronavirus-2(commonly known as SARS-CoV-2)with multiple organ injuries.The aim of this study was to analyze COVID-19-associated liver dysfunction(LD),its association with the risk of death and prognosis after discharge.Methods:Three-hundred and fifty-five COVID-19 patients were recruited.Clinical data were collected from electronic medical records.LD was evaluated and its prognosis was tracked.The association between LD and the risk of death was analyzed.Results:Of the 355 COVID-19 patients,211 had mild disease,88 had severe disease,and 51 had critically ill disease.On admission,223(62.8%)patients presented with hypoproteinemia,151(42.5%)with cholestasis,and 101(28.5%)with hepatocellular injury.As expected,LD was more common in critically ill patients.By multivariate logistic regression,male sex,older age and lymphopenia were three important independent risk factors predicting LD among COVID-19 patients.Risk of death analysis showed that the fatality rate was higher in patients with hypoproteinemia than in those without hypoproteinemia(relative risk=9.471,p<0.01).Moreover,the fatality rate was higher in patients with cholestasis than those without cholestasis(relative risk=2.182,p<0.05).Follow-up observation found that more than one hepatic functional index of two-third patients remained abnormal at 14 days after discharge.Conclusions:LD at early disease stage elevates the risk of death of COVID-19 patients.COVID-19-associated LD does not recover completely by 14 days after discharge.
