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Characteristics and advantages of adenoassociated virus vector-mediated gene therapy for neurodegenerative diseases 预览
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作者 Yuan Qu Yi Liu +2 位作者 Ahmed Fayyaz Noor Johnathan Tran Rui Li 《中国神经再生研究:英文版》 SCIE CAS CSCD 2019年第6期931-938,共8页
Common neurodegenerative diseases of the central nervous system are characterized by progressive damage to the function of neurons,even leading to the permanent loss of function.Gene therapy via gene replacement or ge... Common neurodegenerative diseases of the central nervous system are characterized by progressive damage to the function of neurons,even leading to the permanent loss of function.Gene therapy via gene replacement or gene correction provides the potential for transformative therapies to delay or possibly stop further progression of the neurodegenerative disease in affected patients.Adeno-associated virus has been the vector of choice in recent clinical trials of therapies for neurodegenerative diseases due to its safety and efficiency in mediating gene transfer to the central nervous system.This review aims to discuss and summarize the progress and clinical applications of adeno-associated virus in neurodegenerative disease in central nervous system.Results from some clinical trials and successful cases of central neurodegenerative diseases deserve further study and exploration. 展开更多
关键词 nerve REGENERATION central nervous system gene therapy NEURODEGENERATIVE DISEASE viral vector ADENO-ASSOCIATED virus Alzheimer’s DISEASE Parkinson’s DISEASE Huntington’s DISEASE amyotrophic lateral SCLEROSIS spinal muscular atrophy neural REGENERATION
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Role of the Notch Signaling Pathway in Fibrosis of Denervated Skeletal Muscle 预览
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作者 Fei FENG Lu SHAN +2 位作者 Jing-xiu DENG Ling-li LUO Qi-shun HUANG 《当代医学科学(英文)》 SCIE CAS 2019年第3期419-425,共7页
In order to investigate the role of the Notch signaling pathway in skeletal muscle fibrosis after nerve injury, 60 Sprague-Dawley rats were selected and divided randomly into a control and two experimental groups. Gro... In order to investigate the role of the Notch signaling pathway in skeletal muscle fibrosis after nerve injury, 60 Sprague-Dawley rats were selected and divided randomly into a control and two experimental groups. Group A served as controls without any treatment. Rats in groups B were injected intraperitoneally with 0.2 mL PBS and those in group C were injected intraperitoneally with 0.2 mL PBS+100 ymol/L, 0.2 mL N-[N-(3,5-difluorophenacetyl)-l-alanyl]- S-phenylglycine t-butyl ester (DAPT, a gamma-secretase inhibitor that suppresses Notch signaling) respectively, on postoperative days 1, 3, 7, 10, and 14 in a model of denervation-induced skeletal muscle fibrosis by right sciatic nerve transection. Five rats from each group were euthanized on postoperative days 1, 7, 14, and 28 to collect the right gastrocnemii, and hematoxylin and eosin (HE) staining, immunohistochemistry test, real-time PCR, and Western blotting were performed to assess connective tissue hyperplasia and fibroblast density as well as expression of Notch 1, Jagged 1, and Notch downstream molecules Hes 1 and collagen I (COL I) on day 28. There was no significant difference in HE-stained fibroblast density between group B and C on postoperative day 1. However, fibroblast density was significantly higher in group B than in group C on postoperative days 7, 14, and 28. Notch 1, Jagged 1, Hes 1, and COL I proteins in the gastrocnemius were expressed at very low levels in group A but at high levels in group B. Expression levels of these proteins were significantly lower in group C than in group B (P<0.05), but they were higher in group C than in group A (P<0.05) on postoperative day 28. We are led to conclude that locking the Notch signaling pathway inhibits fibrosis progression of denervated skeletal muscle. Thus, it may be a new approach for treatment of fibrosis of denervated skeletal muscle. 展开更多
关键词 NOTCH signaling pathway SCIATIC nerve skeletal muscle FIBROSIS N-[N-(3 5- difluorophenacetyl)-l-alanyl]-S-phenylglycine T-BUTYL ester NOTCH 1 Jagged 1 Hes 1 collagen I denervated muscular atrophy
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Age-related Changes in the Global DNA Methylation Profile of Oligodendrocyte Progenitor Cells Derived from Rat Spinal Cords 预览
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作者 Jing ZHOU Yong-chao WU +3 位作者 Bao-jun XIAO Xiao-dong GUO Qi-xin ZHENG Bin WU 《当代医学科学(英文)》 SCIE CAS 2019年第1期67-74,共8页
Demyelination of axons plays an important role in the pathology of many spinal cord diseases and injuries.Remyelination in demyelinated lesions is primarily performed by oligodendrocyte progenitor cells(OPCs),which ge... Demyelination of axons plays an important role in the pathology of many spinal cord diseases and injuries.Remyelination in demyelinated lesions is primarily performed by oligodendrocyte progenitor cells(OPCs),which generate oligodendrocytes in the developing and mature central nervous system.The efficiency of remyelination decreases with age.Many reports suggest that this decline in remyelination results from impaired OPC recruitment and differentiation during aging.Of the various molecular mechanisms involved in aging,changes in epigenetic modifications have received particular attention.Global DNA methylation is a major epigenetic modification that plays important roles in cellular senescence and organismal aging.Thus,we aimed to evaluate the dynamic changes in the global DNA methylation profiles of OPCs derived from rat spinal cords during the aging process.We separated and cultured OPCs from the spinal cords of neonatal,4-month-old,and 16-month-old rats and investigated the age-related alterations of genomic DNA methylation levels by using quantitative colorimetric analysis.To determine the potential cause of dynamic changes in global DNA methylation,we further analyzed the activity of DNA methyltransferases(DNMTs)and the expression of DNMT1,DNMT3a,DNMT3b,TET1,TET2,TET3,MBD2,and MeCP2 in the OPCs from each group.Our results showed the genomic DNA methylation level and the activity of DNMTs from OPCs derived from rat spinal cords decreased gradually during aging,and OPCs from 16-month-old rats were characterized by global hypomethylation.During OPC aging,the mRNA and protein expression levels of DNMT3a,DNMT3b,and MeCP2 were significantly elevated;those of DNMT1 were significantly down-regulated;and no significant changes were observed in those for TET1,TET2,TET3,or MBD2.Our results indicated that global DNA hypomethylation in aged OPCs is correlated with DNMT1 downregulation.Together,these data provide important evidence for partly elucidating the mechanism of age-related impaired OPC recruitment and different 展开更多
关键词 T2 mapping DUCHENNE MUSCULAR DYSTROPHY SKELETAL muscle fat INFILTRATION
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T2 Mapping and Fat Quantification of Thigh Muscles in Children with Duchenne Muscular Dystrophy 预览
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作者 Liang YIN Zhi-ying XIE +4 位作者 Hai-yan XU Sui-sheng ZHENG Zhao-xia WANG Jiang-xi XIAO Yun YUAN 《当代医学科学(英文)》 SCIE CAS 2019年第1期138-145,共8页
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
关键词 T2 MAPPING DUCHENNE MUSCULAR DYSTROPHY skeletal muscle fat infiltration
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联合手术治疗先天性小睑裂综合征疗效分析
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作者 鲁奕 孙英 周慧芳 《中国斜视与小儿眼科杂志》 2018年第4期1-4,F0003共5页
目的探讨内外眦开大术联合上睑下垂矫正术治疗先天性小睑裂综合征的临床效果。方法回顾分析先天性小睑裂综合征患儿16例(32眼),年龄3岁~18岁,平均8.6岁。所有患儿同期行双眼内外眦开大术联合上睑下垂矫正术。内眦赘皮及内眦间距增宽采用... 目的探讨内外眦开大术联合上睑下垂矫正术治疗先天性小睑裂综合征的临床效果。方法回顾分析先天性小睑裂综合征患儿16例(32眼),年龄3岁~18岁,平均8.6岁。所有患儿同期行双眼内外眦开大术联合上睑下垂矫正术。内眦赘皮及内眦间距增宽采用Y-V成形术与内眦韧带缩短术矫正,上睑下垂均采用额肌瓣悬吊术矫正。5例患儿加行von Ammon外眦成形术。术后随访1~18个月,测量术前及术后睑裂长度、睑裂高度及内眦间距等指标,评价手术效果。结果所有患儿均顺利完成手术,术后切口均Ⅰ期愈合。睑裂长度及高度均有显著提高。术后1月,睑裂长度由术前(20.6±2.3) mm增加至(27.0±2.7) mm,睑裂高度由术前(4.1±1.8) mm增加至(8.6±0.9) mm,内眦间距由(38.7±5.2) mm减小至(30.7±2.5) mm,差异均有统计学意义(P<0.05)。年龄≥10岁患儿的睑裂长度增加(7.3±1.9) mm、内眦间距减小(10.5±2.3) mm,与年龄小于10岁患儿有显著差异(P<0.05)。术后6个月的随访数据与术后1个月相比,差异无统计学意义(P>0. 05)。结论对于先天性小睑裂综合征患儿同期行联合手术是一种较为理想的治疗方式,特别是对于年龄大于10岁的患儿,可获得较好的临床疗效。 展开更多
关键词 先天性小睑裂综合征 联合手术Y-V成形术 额肌瓣悬吊术
Clinical effect of Rehabmtation Treating combined with Intra-Articular Injection of Sodium Hyaluronate for Exercise induced knee osteoarthritis
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作者 Rui-Ze Xu Hang-Zhou Zhang +2 位作者 Da-Wei Guo Jun-Nan Pan Jun Jiao 《海南医科大学学报(英文版)》 2018年第19期37-41,共5页
Objective: To study the clinical effect of rehabmtation treating combined with intra-articular injection of sodium hyaluronate for exercise induced knee osteoarthritis, and to research the function, biomechanics of kn... Objective: To study the clinical effect of rehabmtation treating combined with intra-articular injection of sodium hyaluronate for exercise induced knee osteoarthritis, and to research the function, biomechanics of knee joint, and inflammatory factor in articular cavity. Method:Selecting 120 patients with exercise induced knee osteoarthritis, then they were randomly divided into control group (n=60) and intervene group (n=60). The patients in the control group were given conventional rehabmtation treating, and the intervene group were given intra-articular injection of sodium hyaluronate on this basic, they were treated 4 weeks. Evaluating the function of knee joint;conduct isokinetic muscle strength test (determination of the angIllar velocity were 60°/S, 180°/S);test the ratio of muscle peak torque and four muscles centripetal centripetal peak torque and peak torque, work load of femoral knee joints after (simultaneous determination of the angular velocity were 60°/S);detect the inflammatory factor in the joint fluid. Results: After the treatment, clinical effect in intervene group was superior to that in control group,but had no statistical significance;after the treatment, the score of function of knee joint in the two groups were higher than before treatment, and had statistical significance, and the score of function of knee joint in the intervene group were higher than control group, and the difference had statistical significance;Angular velocity of 60°/S and 180°/S the two groups peak torque, work load and the H/Q values were significantly increased, the intervene group were higher than control group, and the difference had statistical significance;inflammatory factor in the two groups were significantly decreased, the intervene group were lower than control group, and the difference had statistical significance.Conclusions: On the basic of rehabmtation treating, the treatment of intra-articular injection of sodium hyaluronate can improve the function of knee joint through improving the knee muscle 展开更多
关键词 Rehabmtation TREATING Sodium HYALURONATE EXERCISE INDUCED knee OSTEOARTHRITIS Function of joint MUSCULAR strength Inflammatory factor Clinical effect
Diagnosis of Spinal Muscular Atrophy:A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing
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作者 Yan-Yan Cao Wen-Hui Zhang +4 位作者 Yu-Jin Qu Jin-Li Bai Yu-Wei Jin Hong Wang Fang Song 《中华医学杂志:英文版》 SCIE CAS CSCD 2018年第24期2921-2929,共9页
Background: Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and eva... Background: Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and evaluate a new diagnostic method for SMA. Methods: A total of 1494 children suspected with SMA were enrolled in this study. Traditional strategy, including multiplexed ligation-dependent probe amplification (MLPA) and TA cloning, was used in 1364 suspected SMA children from 2003 to 2014, and the 130 suspected SMA children were tested by a new strategy from 2015 to 2016, who were also verified by MLPA combined with TA cloning. The SMN1 and SMN2 were simultaneously amplified by polymerase chain reaction using the same primers. Mutation Surveyor software was used to detect and quantify the SMN1 variants by calculating allelic proportions in Sanger sequencing. Finally, turnaround time and cost of these two strategies were compared. Results: Among 1364 suspected SMA children, 576 children had SMN1 homozygous deletion and 27 children had SMN1 compound heterozygous mutation. Among the 130 cases, 59 had SMN1 homozygous deletion and 8 had heterozygous deletion: the SMN1-specific peak proportion on exon 7 was 34.6 ± 1.0% and 25.5 ± 0.5%, representing SMN1:SMN2 to be 1:2 and 1:3, respectively. Moreover, five variations, including p.Ser8Lysfs *23 (in two cases), p.Leu228*, p.Pro218Hisfs *26, p.Ser143Phefs*5, and p.Tyr276His, were detected in 6/8 cases with heterozygous deletion, the mutant allele proportion was 31.9%, 23.9%, 37.6%, 32.8%, 24.5%, and 23.6%, which was similar to that of the SMN1-specific site on exon 7, suggesting that those subtle mutations were located in SMN1. All these results were consistent with MLPA and TA cloning. The turnaround times of two strategies were 7.5 h and 266.5 h, respectively. Cost of a new strategy was only 28.5% of the traditional strategy. Conclusion: Sanger sequencing combined with Mutation Surveyor analysis has potential application in SMA diagnosis. 展开更多
关键词 Mutation SURVEYOR Software Quantitative Analysis Sanger DNA SEQUENCING SPINAL MUSCULAR ATROPHY
Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy:A case report-Does Emerin play a role in adipocyte differentiation? 预览
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作者 Fabio Spanu Luca Saba 《世界放射学杂志:英文版(电子版)》 2018年第7期78-82,共5页
Emery dreifuss muscular dystrophy(EDMD)is a rare genetic syndrome consisting of tendon retractions,progressive muscle atrophy and cardiac involvement.We report a case of an obese patient affected by the familial X-lin... Emery dreifuss muscular dystrophy(EDMD)is a rare genetic syndrome consisting of tendon retractions,progressive muscle atrophy and cardiac involvement.We report a case of an obese patient affected by the familial X-linked form in which a pericallosal lipoma was found during investigation for a suspected acute vasculopathy.To date,EDMD has never been associated with cerebral lipomas and the X-linked form was never considered to be involved in lipodystrophic syndromes or non-muscular conditions.Our case confirms the variable expressivity of the disease and suggests a possible role of Emerin in the intranuclear regulation of signals for adipocyte cell differentiation. 展开更多
关键词 Familiar EMERY dreifuss muscular DYSTROPHY EMERIN ADIPOCYTE differentiation Pericallosal LIPOMA Emery-dreifuss-distrophy
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Innovation for rare diseases and bioethical concerns:A thin thread between medical progress and suffering 预览
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作者 Alberto Tommasini Andrea Magnolato Irene Bruno 《世界临床儿科杂志》 2018年第3期75-82,共8页
With the development of precision medicines based on small molecules,antibodies,RNAs and gene therapy,technological innovation is providing some exciting possibilities to treat the most severe genetic diseases.However... With the development of precision medicines based on small molecules,antibodies,RNAs and gene therapy,technological innovation is providing some exciting possibilities to treat the most severe genetic diseases.However,these treatments do not always lead to a cure for the disease,and there are several factors that may hinder their overall success.Patients living during a period of great medical change and innovation may benefit from these technological advances but may also just face failures,both in terms of frustrated hopes as well as suffering.In this article,we are telling the stories of three children with rare and severe disorders,who live in an age of significant medical changes,bearing the burden of difficult scientific and ethical choices.The first two cases that are suffering respectively from severe immunodeficiency and beta thalassemia have already been described in scientific journals,as well as in popular magazines.Although similar when considering the medical challenges,the two cases had opposite outcomes,which resulted in distinct ethical implications.The third case is a baby with spinal muscular atrophy,living at a time of continued innovation in the treatment of the disease.With these cases,we discuss the challenges of providing correct information and proper counseling to families and patients that are making the bumpy journey on the road of medical innovation. 展开更多
关键词 X-severe combined IMMUNODEFICIENCY Primary IMMUNODEFICIENCY Beta THALASSEMIA Spinal MUSCULAR ATROPHY BIOETHICS History of MEDICINE Precision MEDICINE Genetics
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Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment
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作者 Qing Ke Zheng-Yan Zhao +11 位作者 Robert Griggs Veronica Wiley Anne Connolly Jennifer Kwon Ming Qi Daniel Sheehan Emma Ciafaloni R Rodney Howell Petra Furu Peter Sazani Arvind Narayana Michele Gatheridge 《世界儿科杂志(英文版)》 2017年第3期197-201,共5页
Background:Newborn screening for Duchenne muscular dystrophy (DMD) is currently being initiated in Zhejiang Province,China and is under consideration in other countries,including the United States.As China begins to i... Background:Newborn screening for Duchenne muscular dystrophy (DMD) is currently being initiated in Zhejiang Province,China and is under consideration in other countries,including the United States.As China begins to implement DMD newborn screening (DMD-NBS),there is ongoing discussion regarding the steps forward for follow up care of positively identified patients as well as false positive and false negative results.Data sources:Relevant papers related to DMD-NBS,and NBS in China were reviewed in PubMed.Results:The current state of DMD-NBS is discussed,along with the steps needed to effectively screen infants for this disease in China,recommendations for establishment of follow up care in patients with positive and negative screens,and measurement of patient outcomes.Conclusions:Zhejiang Province,China is ready to implement DMD-NBS.Future challenges that exist for this program,and other countries,include the ability to track patients,assist with access to care,and ensure adequate follow-up care according to evidence-based guidelines.In addition,China's large rural population,lack of specialty providers,and difficulty in educating patients regarding the benefits of treatment create challenges that will need to be addressed. 展开更多
关键词 Duchene MUSCULAR DYSTROPHY NEUROLOGY NEUROMUSCULAR disorders NEWBORN screening
2016年12月FDA批准新药概况 预览 被引量:2
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作者 张建忠 《上海医药》 CAS 2017年第3期79-80,共2页
2016年12月,FDA批出3个新分子实体药品(表1),为治疗湿疹新药Eucrisa(crisaborole)、治疗卵巢癌新药Rubraca(rucaparib)和治疗脊髓性肌萎缩症药物Spinraza(nusinersen)。
关键词 特应性皮炎 脊髓性肌萎缩 皮肤类型 FDA 皮肤疾病 慢性炎性 新分子实体 BRCA MUSCULAR 基因突变
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肢带型肌营养不良2A型1例临床、病理及基因分析(附家系基因) 预览
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作者 黄志强 尤红 葛力 《中风与神经疾病杂志》 北大核心 2017年第2期168-169,共2页
肢带型肌营养不良症(limb-girdle muscular dystrophy,LGMD)是一类临床表现为进行性骨盆带和肩胛带肌无力的遗传性疾病。目前国内对该病2A型的临床、病理和基因研究较少,我们对确诊为该型患者的临床、病理、基因测序进行分析。1临床... 肢带型肌营养不良症(limb-girdle muscular dystrophy,LGMD)是一类临床表现为进行性骨盆带和肩胛带肌无力的遗传性疾病。目前国内对该病2A型的临床、病理和基因研究较少,我们对确诊为该型患者的临床、病理、基因测序进行分析。1临床资料患者,男,14岁,学生,因"进行性双下肢乏力伴步态异常2 y余"入院。患者2 y前无明确诱因出现双下肢乏力, 展开更多
关键词 步态异常 基因测序 MUSCULAR DYSTROPHY 肌无力 肩胛带 基因分析 基因研究 临床资料 遗传性疾病
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Duchenne型肌营养不良的干细胞治疗研究进展 预览
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作者 徐乾 成胜权 《发育医学电子杂志》 2016年第1期52-56,60共6页
Duchenne型肌营养不良(duchenne muscular dystrophy,DMD)是我国最常见的X连锁隐性遗传性肌病,临床表现为全身骨骼肌进行性无力、萎缩和小腿腓肠肌假性肥大,随着病情逐渐加重,患者逐渐丧失行走能力,部分病例在青年时期因呼吸循环衰竭... Duchenne型肌营养不良(duchenne muscular dystrophy,DMD)是我国最常见的X连锁隐性遗传性肌病,临床表现为全身骨骼肌进行性无力、萎缩和小腿腓肠肌假性肥大,随着病情逐渐加重,患者逐渐丧失行走能力,部分病例在青年时期因呼吸循环衰竭而死亡。 展开更多
关键词 DUCHENNE DYSTROPHIN 肌营养不良 抗肌萎缩蛋白 干细胞治疗 假性肥大 muscular DYSTROPHY 全身骨骼肌 肌细胞
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肯尼迪病患者的临床表现及电生理特点(附2例报告) 预览 被引量:1
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作者 刘宏雨 薛占苍 《中风与神经疾病杂志》 CAS 北大核心 2016年第10期936-937,共2页
肯尼迪病(Kennedy disease,KD),又称脊髓延髓肌肉萎缩症(spinal and bulbar muscular atrophy,SBMA),是一种成年发病的X连锁隐性遗传的神经系统变性病。国外对此病有较深入的研究,我国随着近年对该病的认识,临床报道逐渐增多。
关键词 电生理特点 MUSCULAR 神经系统变性病 肌电图检查 失神经电位 神经系统查体 舌肌萎缩 单位电位 正中神经 尺神经
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Outcomes of tenodesis of the long head of the biceps tendon more than three months after rupture 预览
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作者 Patrick J McMahon Andrea Speziali 《世界骨科杂志》 2016年第3期188-194,共7页
AIM:To demonstrate that long head of the biceps tendon(LHBT)tenodesis is possible more than 3 mo after rupture.METHODS:From September 2009 to January 2012 we performed tenodesis of the LHBT in 11 individuals(average a... AIM:To demonstrate that long head of the biceps tendon(LHBT)tenodesis is possible more than 3 mo after rupture.METHODS:From September 2009 to January 2012 we performed tenodesis of the LHBT in 11 individuals(average age 56.9 years,range 42 to 73)more than 3 mo after rupture.All patients were evaluated by Disabilites of the Arm Shoulder and Hand(DASH)and Mayo outcome scores at an average follow-up of 19.1 mo.We similarly evaluated 5 patients(average age 58.2 years,range 45 to 64)over the same time treated within 3 mo of rupture with an average follow-up of 22.5 mo.RESULTS:Tenodesis with an interference screw was possible in all patients more than 3 mo after rupture and 90%had good to excellent outcomes but two had recurrent rupture.All of those who had tenodesis less than 3 mo after rupture had good to excellent outcomes and none had recurrent rupture.No statistical difference was found for DASH and Mayo outcome scores between the two groups(P<0.05).CONCLUSION:Tenodesis of LHBT more than 3 mo following rupture had outcomes similar to tenodesis done within 3 mo of rupture but recurrent rupture occurred in 20%. 展开更多
关键词 Popeye deformity Chronic RUPTURE BICEPS TENODESIS Muscular SPASM Interference screw LONG HEAD of BICEPS tendon
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Volume and fat infiltration of spino-pelvic musculature in adults with spinal deformity 预览
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作者 Bertrand Moal Nicolas Bronsard +4 位作者 JoséG Raya Jean Marc Vital Frank Schwab Wafa Skalli Virginie Lafage 《世界骨科杂志》 2015年第9期727-737,共11页
AIM:To investigate fat infiltration and volume of spino-pelvic muscles in adults spinal deformity(ASD)with magnetic resonance imaging(MRI)and 3D reconstructions.METHODS:Nineteen female ASD patients(mean age 60±13... AIM:To investigate fat infiltration and volume of spino-pelvic muscles in adults spinal deformity(ASD)with magnetic resonance imaging(MRI)and 3D reconstructions.METHODS:Nineteen female ASD patients(mean age 60±13)were included prospectively and consecutively and had T1-weighted Turbo Spin Echo sequence MRIs with Dixon method from the proximal tibia up to T12 vertebra.The Dixon method permitted to evaluate the proportion of fat inside each muscle(fat-water ratio).In order to investigate the accuracy of the Dixon method for estimating fat vs water,the same MRI acquisition was performed on phantoms of four vials composed of different proportion of fat vs water.With Muscl’X software,3D reconstructions of 17 muscles or group of muscles were obtained identifying the muscle’s contour on a limited number of axial images[Deformation of parametric specific objects(DPSO)Method].Musclar volume(Vmuscle),infiltrated fat volume(Vfat)and percentage of fat infiltration[Pfat,calculated as follow:Pfat=100×(Vfat/Vmuscle)]were characterized by extensor or flexor function respectively for the spine,hip and knee and theirs relationship with demographic data were investigated.RESULTS:Phantom acquisition demonstrated a non linear relation between Dixon fat-water ratio and the real fat-water ratio.In order to correct the Dixon fatwater ratio,the non linear relation was approximated with a polynomial function of degree three using the phantom acquisition.On average,Pfat was 13.3%±5.3%.Muscles from the spinal extensor group had a Pfat significantly greater than the other muscles groups,and the largest variability(Pfat=31.9%±13.8%,P<0.001).Muscles from the hip extensor group ranked 2nd in terms of Pfat(14%±8%),and were significantly greater than those of the knee extensor(P=0.030).Muscles from the knee extensor group demonstrated the least Pfat(12%±8%).They were also the only group with a significant correlation between Vmuscle and Pfat(r=-0.741,P<0.001),however this correlation was lacking in the other groups.No correlation was fo 展开更多
关键词 Spino-pelvic MUSCULATURE ADULTS with spinal deformity MUSCULAR degeneration MUSCULAR volume FAT INFILTRATION Dixon method
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脊髓性肌萎缩症合并肺部感染 预览
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作者 赵贺华 徐俊梅 杨爱君 《中国医刊》 CAS 2015年第12期11-13,共3页
脊髓性肌萎缩症(spinal muscular atrophy,SMA)是常染色体隐性遗传性疾病,由于脊髓前角运动细胞变性,导致肌无力和肌萎缩,以进行性、对称性肢体近端和躯干肌肉无力、萎缩为主要表现。SMA在活产婴儿中发病率为1/6000-1/10000,人群携带... 脊髓性肌萎缩症(spinal muscular atrophy,SMA)是常染色体隐性遗传性疾病,由于脊髓前角运动细胞变性,导致肌无力和肌萎缩,以进行性、对称性肢体近端和躯干肌肉无力、萎缩为主要表现。SMA在活产婴儿中发病率为1/6000-1/10000,人群携带率为1/40-1/60,患儿最终死于严重的肺部感染和呼吸衰竭,是遗传致死性疾病。 展开更多
关键词 脊髓性肌萎缩 肺部感染 MUSCULAR 致死性疾病 活产婴儿 躯干肌肉 肌无力 近端 携带率 呼吸衰竭
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我国假肥大肌营养不良征防控的技术路径与优生策略选择 预览
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作者 江雨 周裕林 《中国产前诊断杂志(电子版)》 2015年第2期57-61,共5页
【正】1背景介绍假肥大型肌营养不良征(Duchenne and Becker muscular dystrophy,DMD/BMD)是全球最常见的X-连锁隐性致死性基因疾病之一,男婴发生率约为1/3500[1]。临床上根据发病年龄及病程差异,将患者分为杜氏肌营养不良(Duchenne mus... 【正】1背景介绍假肥大型肌营养不良征(Duchenne and Becker muscular dystrophy,DMD/BMD)是全球最常见的X-连锁隐性致死性基因疾病之一,男婴发生率约为1/3500[1]。临床上根据发病年龄及病程差异,将患者分为杜氏肌营养不良(Duchenne muscular dystrophy,DMD)和贝氏肌营养不良(Becker muscular 展开更多
关键词 肌营养不良 MUSCULAR DYSTROPHY DUCHENNE 隐性致死 Becker 技术路径 病程差异 产前诊断 基因疾病
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Autoimmune Disease
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《中国医学文摘:内科学分册(英文版)》 2015年第1期22-23,共2页
【正】2015044 Expression of myostatin gene mRNA in the muscle tissue from 75 patients with muscular weakness.ZHAO Xiaoping(赵晓萍),et al.Dept Neurol,Beijing Milit General Hosp,Beijing 100700.Chin J Neurol 2014;47(11):... 【正】2015044 Expression of myostatin gene mRNA in the muscle tissue from 75 patients with muscular weakness.ZHAO Xiaoping(赵晓萍),et al.Dept Neurol,Beijing Milit General Hosp,Beijing 100700.Chin J Neurol 2014;47(11):772-775.Objective To investigate myostatin gene mRNA expression in the muscle tissue from patients with muscle weakness suffering from different illness.Methods The clinical data of our patients were all from the Muscular 展开更多
关键词 MUSCULAR WEAKNESS illness Neurol 赵晓 SUFFERING POLYMYOSITIS MYOPATHY neonatal BROMIDE
Respiratory physiotherapy in gastroesophageal reflux disease:A review article 预览
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作者 Renata Carvalho de Miranda Chaves Tomás Navarro-Rodriguez 《世界呼吸病学杂志》 2015年第1期28-33,共6页
Gastroesophageal reflux disease(GERD)is a frequent disorder which is expensive to diagnose and treat.Initiating therapy with empiric trial of proton-pump inhibitor is a well established strategy;however,symptoms of GE... Gastroesophageal reflux disease(GERD)is a frequent disorder which is expensive to diagnose and treat.Initiating therapy with empiric trial of proton-pump inhibitor is a well established strategy;however,symptoms of GERD do often persist regardless of effective medication.Nowadays,increasing interest concerning the efficacy and safety of chronic acid suppression with proton-pump inhibitors(PPIs),prompts a consideration for GERD treatment strategies related to the basic physiology of the lower esophageal sphincter,including modulation of its tone and ending of spontaneous transient lower esophageal sphincter relaxation,which contributes to reflux.Together,the lower esophageal sphincter and the crural diaphragm represent the major antireflux barrier,protecting the esophagus from reflux of gastric content.In order to prevent the need for enduring PPIs therapy or surgical procedures,substitute therapeutics approaches are being researched.Recently,studies have focused on the response of the respiratory muscles to inspiratory muscle training.As a result,inspiratory muscle training has emerged as a potential alternative for treatment of gastroesophageal reflux.The present report reviews the physiologic factors contributing to GERD,and presents the newly developed therapies that can be applied either alone or in association with available efficient GERD therapy. 展开更多
关键词 GASTROESOPHAGEAL REFLUX disease Lower ESOPHAGEAL SPHINCTER Inspiratory MUSCULAR training THRESHOLD
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