Inflammation plays an important role in cardiac dysfunction under different situations. Acute systemic inflammation occurring in patients with severe burns, trauma, and inflammatory diseases causes cardiac dysfunction...Inflammation plays an important role in cardiac dysfunction under different situations. Acute systemic inflammation occurring in patients with severe burns, trauma, and inflammatory diseases causes cardiac dysfunction, which is one of the leading causes of mortality in these patients. Acute sepsis decreases cardiac contractility and impairs myocardial compliance. Chronic inflammation such as that occurring in Duchenne muscular dystropshy and myocarditis may cause adverse cardiac remodeling including myocyte hypertrophy and death, fibrosis, and altered myocyte function. However, the underlying cellular and molecular mechanisms for inflammatory cardiomyopathy are still controversial probably due to multiple factors involved. Potential mechanisms include the change in circulating blood volume;a direct inhibition of myocyte contractility by cytokines (tumor necrosis factor (TNF)-?, interleukin (IL)-1?);abnormal nitric oxide and reactive oxygen species (ROS) signaling;mitochondrial dysfunction;abnormal excitation-contraction coupling;and reduced calcium sensitivity at the myofibrillar level and blunted ?-adrenergic signaling. This review will summarize recent advances in diagnostic technology, mechanisms, and potential therapeutic strategies for inflammation-induced cardiac dysfunction.展开更多
Background Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy （BMD） are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chi...Background Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy （BMD） are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker muscular dystrophy （DMD/BMD）, and to study genotype-phenotype correlation.展开更多
Quantitative magnetic resonance image(MRI)in individual muscles may be useful for monitoring disease progression in Duchenne muscular dystrophy(DMD).The purpose of this study w批to measure丁2 relaxation time of thigh ...Quantitative magnetic resonance image(MRI)in individual muscles may be useful for monitoring disease progression in Duchenne muscular dystrophy(DMD).The purpose of this study w批to measure丁2 relaxation time of thigh muscles in children with DMD and healthy boys,and to correlate the T2 relaxation time of muscles with the fat fraction(FF)at quantitative magnetic resonance and results of clinical assessment.Thirty-two boys with DMD and 18 healthy boys were evaluated with T2 mapping and three-point Dixon MRI.Age,body mass index(BMI),muscle strength assessment,timed functional tests(time to walk or run 10 metres,rise from the floor and ascend four stairs),and the North Star Ambulatory Assessment(NSAA)were evaluated.Spearman’s correlation was used to assess the relationships between FF and clinical assessments and T2 relaxation time.The mean T2 relaxation time of thigh muscles in DMD was significantly longer than that in the control group(P<0.05),except for the gracilis(P=0.952).The gracilis,sartorius and adductor longus were relatively spared by fatty infiltration in DMD patients.The T2 relaxation time was correlated significantly with the mean FF in all muscles.Age,BMI,total muscle strength score,timed functional tests and NSAA were significantly correlated with the overall mean T2 relaxation time.T2 mapping may prove clinically useful in monitoring muscle changes as a result of the disease process and in predicting the outcome of DMD patients.展开更多
Background： Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy （BMD） are common X-linked recessive neuromuscular disorders caused by mutations in dystrophin gene. Multiplex polymerase chain reaction ...Background： Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy （BMD） are common X-linked recessive neuromuscular disorders caused by mutations in dystrophin gene. Multiplex polymerase chain reaction （multiplex PCR） and multiplex ligation-dependent probe amplification （MLPA） are the most common methods for detecting dystrophin gene mutations, This study aimed to contrast the two methods and discern the genetic characterization of patients with DMD/BMD in Eastern China. Methods： We collected 121 probands, 64 mothers ofprobands, and 15 fetuses in our study. The dystrophin gene was detected by multiplex PCR primarily in 28 probands, and MLPA was used in multiplex PCR-negative cases subsequently. The dystrophin gene of the remaining 93 probands and 62 female potential carriers was tested by MLPA directly. In fetuses, multiplex PCR and MLPA were performed on 4 fetuses and 10 fetuses, respectively. In addition, sequencing was also performed in 4 probands with negative MLPA. Results： We found that 61.98% of the subjects had genetic mutations including deletions （50.41%） and duplications （11.57%）. There were 43.75% of mothers as carriers of the mutation. In 15 fetuses, 2 out of 7 male fetuses were found to be unhealthy and 2 out of 8 female fetuses were found to be carriers. Exons 3-26 and 45-52 have the maximum frequency in mutation regions. In the frequency ofexons individually, exon 47 and exon 50 were the most common in deleted regions and exons 5, 6, and 7 were found most frequently in duplicated regions. Conclusions： MLPA has better productivity and sensitivity than multiplex PCR. Prenatal diagnosis should be applied in DM D high-risk fetuses to reduce the disease incidence. Furthermore, it is the responsibility of physicians to inform female carriers the importance of prenatal diagnosis.展开更多
Adipose-derived stem cells have been shown to promote peripheral nerve regeneration through the paracrine secretion of neurotrophic factors. However, it is unclear whether these cells can promote myogenic differentiat...Adipose-derived stem cells have been shown to promote peripheral nerve regeneration through the paracrine secretion of neurotrophic factors. However, it is unclear whether these cells can promote myogenic differentiation in muscular dystrophy. Adipose-derived stem cells （6 × 106） were injected into the gastrocnemius muscle of mdx mice at various sites. Dystrophin expression was found in the muscle fibers. Phosphorylation levels of Akt, mammalian target of rapamycin （mTOR）, eIF-4E binding protein 1 and $6 kinase 1 were increased, and the Akt/mTOR pathway was activated. Simultaneously, myogenin levels were increased, whereas cleaved caspase 3 and vimentin levels were decreased. Necrosis and fibrosis were reduced in the muscle fibers. These findings suggest that adipose-derived stem cells promote the re- generation and survival of muscle cells by inhibiting apoptosis and fibrosis, thereby alleviating muscle damage in muscular dystrophy.展开更多
[目的]探讨Duchenne型肌营养不良症(Duchenne muscular dystrophy,DMD)患者发生椎体骨折(vertebral fracture,VF)的相关因素。[方法]回顾性分析2021年7月—2022年9月就诊于解放军总医院DMD多学科联合门诊的DMD患者临床资料。依据是否存...[目的]探讨Duchenne型肌营养不良症(Duchenne muscular dystrophy,DMD)患者发生椎体骨折(vertebral fracture,VF)的相关因素。[方法]回顾性分析2021年7月—2022年9月就诊于解放军总医院DMD多学科联合门诊的DMD患者临床资料。依据是否存在VF分为VF组和非VF组,采用单项因素比较、二元多因素逻辑回归分析和受试者工作曲线(receiver op⁃erating characteristic,ROC)分析VF的相关因素。[结果]纳入本研究的93例患儿均为男性,年龄3.9~15.4岁,平均(8.7±2.6)岁;其中发生VF患儿19例,占20.4%,非VF患儿74例,占79.6%;激素治疗的患儿56例中,VF为17例,30.4%,非VF为39例,占69.6%。单项因素比较表明,VF组服用激素时间、年龄、卧-立位时间显著大于非VF组,腰椎骨密度Z(lumbar bone mineral density Z value,LBMD-Z)值显著低于非VF组,差异有统计学意义(P<0.05)。逻辑回归表明:服用激素时间(OR=2.880,P=0.001)、卧-立位时间(OR=1.115,P=0.015)是DMD患儿VF的独立危险因素,而LBMD-Z值(OR=0.102,P<0.001),年龄(OR=0.511,P=0.021)是VF的保护性因素。ROC曲线分析表明:LBMD-Z值、服用激素时间的曲线面积(aera under curve,AUC)为0.7~0.9,有较好预测VF的价值。[结论]DMD患者VF是多种因素共同作用的结果,对影响因素采取针对性措施,有助于减少VF的发生。展开更多
文摘Inflammation plays an important role in cardiac dysfunction under different situations. Acute systemic inflammation occurring in patients with severe burns, trauma, and inflammatory diseases causes cardiac dysfunction, which is one of the leading causes of mortality in these patients. Acute sepsis decreases cardiac contractility and impairs myocardial compliance. Chronic inflammation such as that occurring in Duchenne muscular dystropshy and myocarditis may cause adverse cardiac remodeling including myocyte hypertrophy and death, fibrosis, and altered myocyte function. However, the underlying cellular and molecular mechanisms for inflammatory cardiomyopathy are still controversial probably due to multiple factors involved. Potential mechanisms include the change in circulating blood volume;a direct inhibition of myocyte contractility by cytokines (tumor necrosis factor (TNF)-?, interleukin (IL)-1?);abnormal nitric oxide and reactive oxygen species (ROS) signaling;mitochondrial dysfunction;abnormal excitation-contraction coupling;and reduced calcium sensitivity at the myofibrillar level and blunted ?-adrenergic signaling. This review will summarize recent advances in diagnostic technology, mechanisms, and potential therapeutic strategies for inflammation-induced cardiac dysfunction.
文摘Background Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy （BMD） are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker muscular dystrophy （DMD/BMD）, and to study genotype-phenotype correlation.
文摘Quantitative magnetic resonance image(MRI)in individual muscles may be useful for monitoring disease progression in Duchenne muscular dystrophy(DMD).The purpose of this study w批to measure丁2 relaxation time of thigh muscles in children with DMD and healthy boys,and to correlate the T2 relaxation time of muscles with the fat fraction(FF)at quantitative magnetic resonance and results of clinical assessment.Thirty-two boys with DMD and 18 healthy boys were evaluated with T2 mapping and three-point Dixon MRI.Age,body mass index(BMI),muscle strength assessment,timed functional tests(time to walk or run 10 metres,rise from the floor and ascend four stairs),and the North Star Ambulatory Assessment(NSAA)were evaluated.Spearman’s correlation was used to assess the relationships between FF and clinical assessments and T2 relaxation time.The mean T2 relaxation time of thigh muscles in DMD was significantly longer than that in the control group(P<0.05),except for the gracilis(P=0.952).The gracilis,sartorius and adductor longus were relatively spared by fatty infiltration in DMD patients.The T2 relaxation time was correlated significantly with the mean FF in all muscles.Age,BMI,total muscle strength score,timed functional tests and NSAA were significantly correlated with the overall mean T2 relaxation time.T2 mapping may prove clinically useful in monitoring muscle changes as a result of the disease process and in predicting the outcome of DMD patients.
基金This study was supported by grants from the National Natural Science Foundation of China （No. 81671117）, the Jiangsu Province Natural Science Foundation （No. BK20141439）, and A Project Funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions （No. JXC 10231802）.
文摘Background： Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy （BMD） are common X-linked recessive neuromuscular disorders caused by mutations in dystrophin gene. Multiplex polymerase chain reaction （multiplex PCR） and multiplex ligation-dependent probe amplification （MLPA） are the most common methods for detecting dystrophin gene mutations, This study aimed to contrast the two methods and discern the genetic characterization of patients with DMD/BMD in Eastern China. Methods： We collected 121 probands, 64 mothers ofprobands, and 15 fetuses in our study. The dystrophin gene was detected by multiplex PCR primarily in 28 probands, and MLPA was used in multiplex PCR-negative cases subsequently. The dystrophin gene of the remaining 93 probands and 62 female potential carriers was tested by MLPA directly. In fetuses, multiplex PCR and MLPA were performed on 4 fetuses and 10 fetuses, respectively. In addition, sequencing was also performed in 4 probands with negative MLPA. Results： We found that 61.98% of the subjects had genetic mutations including deletions （50.41%） and duplications （11.57%）. There were 43.75% of mothers as carriers of the mutation. In 15 fetuses, 2 out of 7 male fetuses were found to be unhealthy and 2 out of 8 female fetuses were found to be carriers. Exons 3-26 and 45-52 have the maximum frequency in mutation regions. In the frequency ofexons individually, exon 47 and exon 50 were the most common in deleted regions and exons 5, 6, and 7 were found most frequently in duplicated regions. Conclusions： MLPA has better productivity and sensitivity than multiplex PCR. Prenatal diagnosis should be applied in DM D high-risk fetuses to reduce the disease incidence. Furthermore, it is the responsibility of physicians to inform female carriers the importance of prenatal diagnosis.
基金supported by the National Natural Science Foundation of China,No.30370510,30870851,81271401the Joint Fund of National Natural Science Foundation of ChinaNatural Science Foundation of Guangdong Province of China,No.U1032004
文摘Adipose-derived stem cells have been shown to promote peripheral nerve regeneration through the paracrine secretion of neurotrophic factors. However, it is unclear whether these cells can promote myogenic differentiation in muscular dystrophy. Adipose-derived stem cells （6 × 106） were injected into the gastrocnemius muscle of mdx mice at various sites. Dystrophin expression was found in the muscle fibers. Phosphorylation levels of Akt, mammalian target of rapamycin （mTOR）, eIF-4E binding protein 1 and $6 kinase 1 were increased, and the Akt/mTOR pathway was activated. Simultaneously, myogenin levels were increased, whereas cleaved caspase 3 and vimentin levels were decreased. Necrosis and fibrosis were reduced in the muscle fibers. These findings suggest that adipose-derived stem cells promote the re- generation and survival of muscle cells by inhibiting apoptosis and fibrosis, thereby alleviating muscle damage in muscular dystrophy.
文摘[目的]探讨Duchenne型肌营养不良症(Duchenne muscular dystrophy,DMD)患者发生椎体骨折(vertebral fracture,VF)的相关因素。[方法]回顾性分析2021年7月—2022年9月就诊于解放军总医院DMD多学科联合门诊的DMD患者临床资料。依据是否存在VF分为VF组和非VF组,采用单项因素比较、二元多因素逻辑回归分析和受试者工作曲线(receiver op⁃erating characteristic,ROC)分析VF的相关因素。[结果]纳入本研究的93例患儿均为男性,年龄3.9~15.4岁,平均(8.7±2.6)岁;其中发生VF患儿19例,占20.4%,非VF患儿74例,占79.6%;激素治疗的患儿56例中,VF为17例,30.4%,非VF为39例,占69.6%。单项因素比较表明,VF组服用激素时间、年龄、卧-立位时间显著大于非VF组,腰椎骨密度Z(lumbar bone mineral density Z value,LBMD-Z)值显著低于非VF组,差异有统计学意义(P<0.05)。逻辑回归表明:服用激素时间(OR=2.880,P=0.001)、卧-立位时间(OR=1.115,P=0.015)是DMD患儿VF的独立危险因素,而LBMD-Z值(OR=0.102,P<0.001),年龄(OR=0.511,P=0.021)是VF的保护性因素。ROC曲线分析表明:LBMD-Z值、服用激素时间的曲线面积(aera under curve,AUC)为0.7~0.9,有较好预测VF的价值。[结论]DMD患者VF是多种因素共同作用的结果,对影响因素采取针对性措施,有助于减少VF的发生。
