Four (CA)n repeats, located in introns 44, 45, 49 and 50 of the dystrophin gene., were evaluated in Chinese. These loci are highly polymorphic, with polymorphism information contents of 0. 872, 0. 772, 0. 870 and 0....Four (CA)n repeats, located in introns 44, 45, 49 and 50 of the dystrophin gene., were evaluated in Chinese. These loci are highly polymorphic, with polymorphism information contents of 0. 872, 0. 772, 0. 870 and 0. 718, respectively. All four loci can be easily amplified and labelled using two duplex PCR reactions with α-32P-dCTP and can be detected by denaturing polyacrylamide gel electrophoresis. Using these four loci and the two polymorphic (CA)n repeats located at the 5' and 3' ends of the dystrophin gene, we have developed a new PCR-based procedure -Amp-FLP (amplified fragment length polymorphism) linkage analysis for the gene diagnosis of DMD/BMD. This method can detect intragenic recombination rapidly and efficiently and greatly. improves the success rate of carrier detection and prenatal diagnosis in non-deletion DMD/BMD families. All of the loci used in this procedure are intragenic. In addition, the loci in introns 44. 45, 49 and 50 are located in the deletion-prone region of the dystrophin gene, making them valuable and useful in the identification of deletion mutations. Here we report one case of deletion detection using these four loci.展开更多
in the present study,9 exon-containing DNA segments of dystrophin gene with 9 sets of oligonucleotide primers by two-step multiplex polymerase chain reaction (mPCR) were amplified. Subsequently,gene analysis was perfo...in the present study,9 exon-containing DNA segments of dystrophin gene with 9 sets of oligonucleotide primers by two-step multiplex polymerase chain reaction (mPCR) were amplified. Subsequently,gene analysis was performed in 36 cases of Duchenne mascular dystroply (DMD) and 4 cases of Becker muscular dystrophy(BMD). The findings showed that 17 cases of deletion were detected by using the first 5 sets of primers with a relatively high incidence of deletion detection and 2 more cases of deletion were detected by using the remaining 4 sets of primers. The total deletion rate detected by mPCR with 9 cases of primers was 47. 5% of the patients examined,suggesting that about 79. 1% of the patients with gene deletion could be detected. Thus,as a preliminary screening, the two-step mPCR can be used in the gene diagnosis of DMD/BMD. The method is not only simple, convenient and rapid,but also free from radiosotope trouble.展开更多
Typing of the muscular fibers in the costal and crural diaphragm (DIcos and DIcru) was undertaken with myosin ATPase histochemistry and the cross sectional area (CSA) of each fiber was measured with a computerized ima...Typing of the muscular fibers in the costal and crural diaphragm (DIcos and DIcru) was undertaken with myosin ATPase histochemistry and the cross sectional area (CSA) of each fiber was measured with a computerized image-processing system. It was found that the muscle fibers could be classified into types Ⅰ,ⅡA and ⅡB and they accounted for 33. 2%, 26. 9% and 39. 9% in DIcos and 25. 3%, 23. 1 % and 51. 6% in DIcru respectively. This indicated that there was difference of the proportion of each type of muscu1ar fibers between the two portions of the diaphragm. There is a higher percentage of slow-twitch oxidative fibers (type Ⅰ) in Dlcos and a higher percentage of fast-twitch glycolytic fibers (type ⅡB) in DIcru. The size of the same type of muscular fibers shows no significant difference between DIcos and DIcru.展开更多
Objective. To study the features and mechanism of the cerebral evoked potentials by repetitive stimulation of calf muscle in Duchenne muscular dystrophy (DMD) patients with obvious muscular dystrophy and psuedohypertr...Objective. To study the features and mechanism of the cerebral evoked potentials by repetitive stimulation of calf muscle in Duchenne muscular dystrophy (DMD) patients with obvious muscular dystrophy and psuedohypertrophy. Methods. Cerebral evoked potentials by stimulation of calf muscles and somatosensory evoked potentials (SEPs) by the stimulation of posterior tibial nerves at ankle were measured in 10 patients with DMD and 10 normal controls matched with gender and age. The intensity of the magnetic stimulation was at 30％ of maximal output (2.1 Tesla, MagPro magnetic stimulator, Dantec) and the frequency was 1 Hz. The low intensity of magnetic stimulation was just sufficient to produce a contraction of the muscle belly underneath the coil. Recording electrode was placed at 2 cm posterior to the Cz, reference to Fpz. The latencies of N33, P38, N48 and P55 and amplitude (P38－ N48) were recorded. SEPs were recorded by routine methods. Results. In normal subjects, the amplitudes of cerebral evoked potentials by magnetic stimulation of calf muscle was 40％ lower than that by electrical stimulation of the posterior tibial nerves at ankle. The latency of P38 was 2.9± 2.1 ms longer compared with electrical stimulation of the posterior tibial nerves at ankle. In 6 patients, P38 latency from magnetic stimulation was remarkably prolonged (P< 0.01), and in 4 patients, there was no remarkable response. SEPs evoked by electrical stimulation were normal in all of the patients. Conclusion. DMD is an available model for the study of mechanism of cerebral evoked potentials by magnetic stimulating muscle. We can conclude that the responses from magnetic stimulation were produced by muscle input. The abnormal responses in patients may relate to decreased input of muscle by stimulating dystrophic and psedohypertrophic muscle.展开更多
BACKGROUND: This study aimed to explore the risk factors associated with intensive care unitacquired weakness(ICU-AW) in critically ill patients at risk of malnutrition and to evaluate the efficacy of early enteral nu...BACKGROUND: This study aimed to explore the risk factors associated with intensive care unitacquired weakness(ICU-AW) in critically ill patients at risk of malnutrition and to evaluate the efficacy of early enteral nutrition(EEN) and the role of biomarkers in managing ICU-AW.METHODS: This retrospective, observational cohort study included 180 patients at risk of malnutrition admitted to the emergency intensive care unit of the First Affiliated Hospital of Xiamen University Hospital from January 2022 to December 2023. Patients were divided into ICU-AW group and non-ICU-AW group according to whether they developed ICU-AW, or categorized into EEN and parenteral nutrition(PN) groups according to nutritional support. ICU-AW was diagnosed using the Medical Research Council score. The primary outcome was the occurrence of ICU-AW.RESULTS: The significant factors associated with ICU-AW included age, sex, type of nutritional therapy, mechanical ventilation(MV), body mass index(BMI), blood urea nitrogen(BUN), and creatinine(Cr) levels(P<0.05). The PN group developed ICU-AW earlier than did the EEN group, with a significant difference observed(log-rank P<0.001). Among biomarkers for ICU-AW, the mean prealbumin(PAB)/C-reactive protein(CRP) ratio had the highest diagnostic accuracy(area under the curve [AUC] 0.928, 95% confidence interval [95% CI] 0.892–0.946), surpassing the mean Cr/BUN ratio(AUC 0.740, 95% CI 0.663–0.819) and mean transferrin levels(AUC 0.653, 95% CI 0.574–0.733).CONCLUSION: Independent risk factors for ICU-AW include female sex, advanced age, PN, MV, lower BMI, and elevated BUN and Cr levels. EEN may potentially delay ICU-AW onset, and the PAB/CRP ratio may be an effective diagnostic marker for this condition.展开更多
目的利用Citespace软件对脊髓性肌萎缩症(spinal muscular atrophy,SMA)患儿症状管理领域相关研究进行可视化分析,了解其研究现状、热点和趋势,为未来SMA患儿的护理提供新思路。方法检索Web of Science数据库核心合集中2009—2023年收录...目的利用Citespace软件对脊髓性肌萎缩症(spinal muscular atrophy,SMA)患儿症状管理领域相关研究进行可视化分析,了解其研究现状、热点和趋势,为未来SMA患儿的护理提供新思路。方法检索Web of Science数据库核心合集中2009—2023年收录的SMA患儿症状管理的相关文献,使用Citespace 6.3.R1软件对该研究领域的发文量、关键词等进行可视化分析。结果共纳入495篇文献,当前研究热点为SMA患儿的自然病程记录、运动功能管理、呼吸功能监测以及诺西那生钠治疗。结论未来SMA患儿症状管理的研究应重视多学科合作,制订精准症状管理指南,指导SMA患儿全病程管理。展开更多
目的介绍脊髓性肌萎缩症(spinal muscular atrophy,SMA)治疗药物研究进展,为新药开发提供思路。方法检索2013—2022年国内外与SMA发病机制和相关药物有关的文献,进行归纳总结。结果SMA是一种由运动神经元存活(survival motor neuron,SMN...目的介绍脊髓性肌萎缩症(spinal muscular atrophy,SMA)治疗药物研究进展,为新药开发提供思路。方法检索2013—2022年国内外与SMA发病机制和相关药物有关的文献,进行归纳总结。结果SMA是一种由运动神经元存活(survival motor neuron,SMN)基因1的纯合缺失或突变引起的遗传性神经肌肉疾病,主要表现为肌无力。药物主要通过干预剪切、递送完整SMN1基因及神经保护的途径进行治疗,且疾病表型与钙离子之间存在潜在关系,需要进一步探索。结论对现有药物的研究,有助于深入了解疾病机制以及药物的作用方式,为药物开发奠定基础。展开更多
文摘Four (CA)n repeats, located in introns 44, 45, 49 and 50 of the dystrophin gene., were evaluated in Chinese. These loci are highly polymorphic, with polymorphism information contents of 0. 872, 0. 772, 0. 870 and 0. 718, respectively. All four loci can be easily amplified and labelled using two duplex PCR reactions with α-32P-dCTP and can be detected by denaturing polyacrylamide gel electrophoresis. Using these four loci and the two polymorphic (CA)n repeats located at the 5' and 3' ends of the dystrophin gene, we have developed a new PCR-based procedure -Amp-FLP (amplified fragment length polymorphism) linkage analysis for the gene diagnosis of DMD/BMD. This method can detect intragenic recombination rapidly and efficiently and greatly. improves the success rate of carrier detection and prenatal diagnosis in non-deletion DMD/BMD families. All of the loci used in this procedure are intragenic. In addition, the loci in introns 44. 45, 49 and 50 are located in the deletion-prone region of the dystrophin gene, making them valuable and useful in the identification of deletion mutations. Here we report one case of deletion detection using these four loci.
文摘in the present study,9 exon-containing DNA segments of dystrophin gene with 9 sets of oligonucleotide primers by two-step multiplex polymerase chain reaction (mPCR) were amplified. Subsequently,gene analysis was performed in 36 cases of Duchenne mascular dystroply (DMD) and 4 cases of Becker muscular dystrophy(BMD). The findings showed that 17 cases of deletion were detected by using the first 5 sets of primers with a relatively high incidence of deletion detection and 2 more cases of deletion were detected by using the remaining 4 sets of primers. The total deletion rate detected by mPCR with 9 cases of primers was 47. 5% of the patients examined,suggesting that about 79. 1% of the patients with gene deletion could be detected. Thus,as a preliminary screening, the two-step mPCR can be used in the gene diagnosis of DMD/BMD. The method is not only simple, convenient and rapid,but also free from radiosotope trouble.
文摘Typing of the muscular fibers in the costal and crural diaphragm (DIcos and DIcru) was undertaken with myosin ATPase histochemistry and the cross sectional area (CSA) of each fiber was measured with a computerized image-processing system. It was found that the muscle fibers could be classified into types Ⅰ,ⅡA and ⅡB and they accounted for 33. 2%, 26. 9% and 39. 9% in DIcos and 25. 3%, 23. 1 % and 51. 6% in DIcru respectively. This indicated that there was difference of the proportion of each type of muscu1ar fibers between the two portions of the diaphragm. There is a higher percentage of slow-twitch oxidative fibers (type Ⅰ) in Dlcos and a higher percentage of fast-twitch glycolytic fibers (type ⅡB) in DIcru. The size of the same type of muscular fibers shows no significant difference between DIcos and DIcru.
文摘Objective. To study the features and mechanism of the cerebral evoked potentials by repetitive stimulation of calf muscle in Duchenne muscular dystrophy (DMD) patients with obvious muscular dystrophy and psuedohypertrophy. Methods. Cerebral evoked potentials by stimulation of calf muscles and somatosensory evoked potentials (SEPs) by the stimulation of posterior tibial nerves at ankle were measured in 10 patients with DMD and 10 normal controls matched with gender and age. The intensity of the magnetic stimulation was at 30％ of maximal output (2.1 Tesla, MagPro magnetic stimulator, Dantec) and the frequency was 1 Hz. The low intensity of magnetic stimulation was just sufficient to produce a contraction of the muscle belly underneath the coil. Recording electrode was placed at 2 cm posterior to the Cz, reference to Fpz. The latencies of N33, P38, N48 and P55 and amplitude (P38－ N48) were recorded. SEPs were recorded by routine methods. Results. In normal subjects, the amplitudes of cerebral evoked potentials by magnetic stimulation of calf muscle was 40％ lower than that by electrical stimulation of the posterior tibial nerves at ankle. The latency of P38 was 2.9± 2.1 ms longer compared with electrical stimulation of the posterior tibial nerves at ankle. In 6 patients, P38 latency from magnetic stimulation was remarkably prolonged (P< 0.01), and in 4 patients, there was no remarkable response. SEPs evoked by electrical stimulation were normal in all of the patients. Conclusion. DMD is an available model for the study of mechanism of cerebral evoked potentials by magnetic stimulating muscle. We can conclude that the responses from magnetic stimulation were produced by muscle input. The abnormal responses in patients may relate to decreased input of muscle by stimulating dystrophic and psedohypertrophic muscle.
文摘BACKGROUND: This study aimed to explore the risk factors associated with intensive care unitacquired weakness(ICU-AW) in critically ill patients at risk of malnutrition and to evaluate the efficacy of early enteral nutrition(EEN) and the role of biomarkers in managing ICU-AW.METHODS: This retrospective, observational cohort study included 180 patients at risk of malnutrition admitted to the emergency intensive care unit of the First Affiliated Hospital of Xiamen University Hospital from January 2022 to December 2023. Patients were divided into ICU-AW group and non-ICU-AW group according to whether they developed ICU-AW, or categorized into EEN and parenteral nutrition(PN) groups according to nutritional support. ICU-AW was diagnosed using the Medical Research Council score. The primary outcome was the occurrence of ICU-AW.RESULTS: The significant factors associated with ICU-AW included age, sex, type of nutritional therapy, mechanical ventilation(MV), body mass index(BMI), blood urea nitrogen(BUN), and creatinine(Cr) levels(P<0.05). The PN group developed ICU-AW earlier than did the EEN group, with a significant difference observed(log-rank P<0.001). Among biomarkers for ICU-AW, the mean prealbumin(PAB)/C-reactive protein(CRP) ratio had the highest diagnostic accuracy(area under the curve [AUC] 0.928, 95% confidence interval [95% CI] 0.892–0.946), surpassing the mean Cr/BUN ratio(AUC 0.740, 95% CI 0.663–0.819) and mean transferrin levels(AUC 0.653, 95% CI 0.574–0.733).CONCLUSION: Independent risk factors for ICU-AW include female sex, advanced age, PN, MV, lower BMI, and elevated BUN and Cr levels. EEN may potentially delay ICU-AW onset, and the PAB/CRP ratio may be an effective diagnostic marker for this condition.
文摘目的介绍脊髓性肌萎缩症(spinal muscular atrophy,SMA)治疗药物研究进展,为新药开发提供思路。方法检索2013—2022年国内外与SMA发病机制和相关药物有关的文献,进行归纳总结。结果SMA是一种由运动神经元存活(survival motor neuron,SMN)基因1的纯合缺失或突变引起的遗传性神经肌肉疾病,主要表现为肌无力。药物主要通过干预剪切、递送完整SMN1基因及神经保护的途径进行治疗,且疾病表型与钙离子之间存在潜在关系,需要进一步探索。结论对现有药物的研究,有助于深入了解疾病机制以及药物的作用方式,为药物开发奠定基础。
