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Congenital muscular dystrophy caused by beta1,3-Nacetylgalactosaminyltransferase 2 gene mutation:Two case reports 被引量:1
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作者 Wen-Juan Wu Su-Zhen Sun Bao-Guang Li 《World Journal of Clinical Cases》 SCIE 2022年第3期1056-1066,共11页
BACKGROUND Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2(B3GALNT2)gene can lead to impaired glycosylation ofα-dystroglycan,which,in turn,causes congenital muscular dystrophy(CMD).The clinical phenotype... BACKGROUND Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2(B3GALNT2)gene can lead to impaired glycosylation ofα-dystroglycan,which,in turn,causes congenital muscular dystrophy(CMD).The clinical phenotypes of CMD are broad,and there are only a few reports of CMD worldwide.CASE SUMMARY This report describes the cases of two children with CMD caused by B3GALNT2 gene mutation.The main manifestations of the two cases were abnormal walking posture,language development delay,and abnormal development of the white matter.Case 2 also had unreported symptoms of meningocele and giant arachnoid cyst.Both cases had compound heterozygous mutations of the B3GALNT2 gene,each containing a truncated mutation and a missense mutation,and three of the four loci had not been reported.Nineteen patients with CMD caused by B3GALNT2 gene mutation were found in the literature.Summary and analysis of the characteristics of CMD caused by B3GALNT2 gene mutation showed that 100%of the cases had nervous system involvement.Head magnetic resonance imaging often showed abnormal manifestations,and more than half of the children had eye and muscle involvement;some of the gene-related symptoms were self-healing.CONCLUSION B3GALNT2 gene can be used as one of the candidate genes for screening CMD,cognitive development retardation,epilepsy,and multiple brain developmental malformations in infants. 展开更多
关键词 Beta1 3-N-acetylgalactosaminyltransferase 2 gene congenital muscular dystrophy EPILEPSY Language development retardation AUTISM Case report
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Myocardial Protection with Beta Blocker Treatment in Infants with Heart Failure Due to Congenital Heart Defects and Duchenne Muscular Dystrophy 被引量:1
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作者 Buchhorn Reiner 《Open Journal of Thoracic Surgery》 2020年第4期81-88,共8页
Our first intention to treat infants’ heart failure with beta blockers was to improve the clinical condition as shown in our prospective randomized trial. We only use non-selective beta blockers in these infants, car... Our first intention to treat infants’ heart failure with beta blockers was to improve the clinical condition as shown in our prospective randomized trial. We only use non-selective beta blockers in these infants, carvedilol in those with left ventricular dysfunction and propranolol in those with congenital heart disease without ventricular dysfunction. Despite a significant improvement of Ross’s heart failure score, we could not convince most colleagues within the last 25 years if the concept of neurohumoral activation in heart failure is not well-established pediatric cardiology. Recently, Honghai Liu et al. published that cardiomyocyte cytokinesis failure was increased in congenital heart disease. Inactivation of the beta adreno receptors genes and administration of the beta-blocker propranolol increased cardiomyocyte division in neonatal mice, which increased the number of cardiomyocytes (endowment) and conferred benefit after myocardial infarction in adults. We currently realize that propranolol in infants with congenital heart disease not only decrease highly elevated NT-Pro-BNP values but also decrease cardiac troponin T values that may indicate myocardial injury due to neurohumoral activation. We reproduce this observation, primarily seen in infants with congenital heart disease, in an infant with Duchenne muscular dystrophy. These observations were in good accordance with current data from H. Liu et al., who showed that treatment with non-selective beta blockers early after birth might rescue cytokinesis defects and prevent heart dysfunction in adulthood in a mouse model. 展开更多
关键词 Heart Failure congenital Heart Disease Duchenne muscular dystrophy Pro-pranolol CARVEDILOL Cardiac Troponin T Myocardial Injury
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Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report
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作者 Mi Yang Ru-Xin Xing 《World Journal of Clinical Cases》 SCIE 2021年第19期5226-5231,共6页
BACKGROUND Congenital muscular dystrophy(CMD)is a clinically and genetically heterogeneous group of inherited muscle disorders.Mutations in the CRPPA gene(encoding CDPLribitol pyrophosphorylase A)are recognized as cau... BACKGROUND Congenital muscular dystrophy(CMD)is a clinically and genetically heterogeneous group of inherited muscle disorders.Mutations in the CRPPA gene(encoding CDPLribitol pyrophosphorylase A)are recognized as causative factors of dystroglycanopathies,a subtype of CMD with defects in glycosylation.CASE SUMMARY The present study examined a Chinese family,whose proband presented mainly with muscle weakness in both lower limbs but without brain and eye symptoms.In this family,a homozygous deletion,c.1114-1116del(p.V372del),was identified in exon 8 of CRPPA in the proband,while a heterozygous deletion was identified in the proband’s father and mother,who lacked symptoms.A mild dystroglycanopathy of CMD was diagnosed.CONCLUSION The findings of this study expanded the clinical and mutational spectrum of patients with CMD associated with CRPPA mutations. 展开更多
关键词 congenital muscular dystrophy CRPPA MUTATION Dystroglycanopathy Case report
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Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report
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作者 Jun Hu Yan-Hui Chen +2 位作者 Xin Fang Yu Zhou Feng Chen 《World Journal of Clinical Cases》 SCIE 2022年第1期338-344,共7页
BACKGROUND Ullrich congenital muscular dystrophy(UCMD)is one of the collagen-VI-related myopathies caused by mutations of COL6A1,COL6A2,and COL6A3 genes.Affected individuals are characterized by muscle weakness,proxim... BACKGROUND Ullrich congenital muscular dystrophy(UCMD)is one of the collagen-VI-related myopathies caused by mutations of COL6A1,COL6A2,and COL6A3 genes.Affected individuals are characterized by muscle weakness,proximal joint contracture,distal joint hyperlaxity,and progressive respiratory failure.There is currently no cure for UCMD.Here,we report the clinical manifestations and prenatal diagnosis of compound heterozygous mutations of the COL6A2 gene in a Chinese family with UCMD.CASE SUMMARY A 3-year-old boy,his 4-year-old brother,their parents,and a 20-wk-old fetus in the mother’s womb were included in the study.The brothers had the typical manifestations of the early-severe subtype:A delayed motor milestone(never walking independently),torticollis,scoliosis,proximal joint contracture,distal joint hyperextension,right hip joint dislocation,and calcaneal protuberance.Both brothers were found by whole-exome sequencing and Sanger sequencing to carry two mutations of the COL6A2 gene(c.1353_c.1354insC,p.Arg453Profs-Ter42/c.2105G>A,p.Trp702Ter).The absence of collagen VI staining in the younger brother’s muscle was identified accurately.Genetic counseling and prenatal diagnosis were crucial for the family,as the autosomal recessive genetic disease affected a quarter of the patient’s siblings.The fetus of the mother’s third child underwent prenatal diagnosis and carried the same two mutations of COL6A2,confirmed in the amniotic fluid by multiplex ligation-dependent probe amplification and short tandem repeats.After a painful psychological struggle,the parents finally decided to terminate the pregnancy.CONCLUSION We report a Chinese family suffering from UCMD.By clarifying the COL6A2 mutations in the probands,the parents had the opportunity to opt for voluntary interruption of the third UCMD pregnancy. 展开更多
关键词 Ullrich congenital muscular dystrophy COL6A2 MUTATION Prenatal diagnosis Case report
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Congenital and childhood myotonic dystrophy:Current aspects of disease and future directions 被引量:3
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作者 Genevieve Ho Michael Cardamone Michelle Farrar 《World Journal of Clinical Pediatrics》 2015年第4期66-80,共15页
Myotonic dystrophy type 1(DM1) is multisystem disease arising from mutant CTG expansion in the nontranslating region of the dystrophia myotonica protein kinase gene. While DM1 is the most common adult muscular dystrop... Myotonic dystrophy type 1(DM1) is multisystem disease arising from mutant CTG expansion in the nontranslating region of the dystrophia myotonica protein kinase gene. While DM1 is the most common adult muscular dystrophy, with a worldwide prevalence of one in eight thousand, age of onset varies from before birth to adulthood. There is a broad spectrum of clinical severity, ranging from mild to severe, which correlates with number of DNA repeats. Importantly, the early clinical manifestations and management in congenital and childhood DM1 differ from classic adult DM1. In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognised yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counselling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation, as is assisting with family planning and undertaking cascade testing to instigate health surveillance in affected family members. This review incorporates discussion of the clinical manifestations and management of congenital and childhood DM1, with a particular focus on hypersomnolence and sleep disorders. In addition, the molecular genetics, mechanisms of disease pathogenesis and development of novel treatment strategies in DM1 will be summarised. 展开更多
关键词 CLINICAL MANIFESTATIONS Myotonic dystrophy type 1 CHILDHOOD myotonic dystrophy congenital myotonic dystrophy Natural HISTORY Management
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Surgical and long-term functional outcomes of patients with Duchenne muscular dystrophy following spinal deformity correction
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作者 Simon Roberts Ayesha Arshad Athanasios I Tsirikos 《World Journal of Orthopedics》 2023年第6期411-426,共16页
BACKGROUND Life expectancy in patients with Duchenne muscular dystrophy(DMD)has improved due to advances in medical care.DMD patients develop progressive spinal deformity after loss of ambulatory function and onset of... BACKGROUND Life expectancy in patients with Duchenne muscular dystrophy(DMD)has improved due to advances in medical care.DMD patients develop progressive spinal deformity after loss of ambulatory function and onset of wheelchair dependence for mobility.There is limited published data on the effect of spinal deformity correction on long-term functional outcomes,quality of life(QoL),and satisfaction in DMD patients.AIM To investigate the long-term functional outcomes following spinal deformity correction in DMD patients.METHODS This was a retrospective cohort study from 2000-2022.Data was collected from hospital records and radiographs.At follow-up,patients completed the muscular dystrophy spine questionnaire(MDSQ).Statistical analysis was performed by linear regression analysis and ANOVA to analyse clinical and radiographic factors significantly associated with MDSQ scores.RESULTS Forty-three patients were included with mean age 14.4 years at surgery.Spinopelvic fusion was performed in 41.9%of patients.Mean surgical time was 352.1 min and mean blood loss was 36%of estimated total blood volume.Mean hospital stay was 14.1 d.Postoperative complications occurred in 25.6%of patients.Mean preoperative scoliosis was 58°,pelvic obliquity 16.4°,thoracic kyphosis 55.8°,lumbar lordosis 11.1°,coronal balance 3.8 cm,and sagittal balance+6.1 cm.Mean surgical correction of scoliosis was 79.2%and of pelvic obliquity was 80.8%.Mean follow-up was 10.9 years(range:2-22.5).Twenty-four patients had died at follow-up.Sixteen patients completed the MDSQ at mean age 25.4 years(range 15.2-37.3).Two patients were bed-ridden and 7 were on ventilatory support.Mean MDSQ total score was 38.1.All 16 patients were satisfied with the results of spinal surgery and would choose surgery again if offered.Most patients(87.5%)reported no severe back pain at follow-up.Factors significantly associated with functional outcomes(MDSQ total score)included greater duration of post-operative follow-up,age,scoliosis postoperatively,correction of scoliosis,increased lumbar lordosis postoperatively,and greater age at loss of independent ambulation.CONCLUSION Spinal deformity correction in DMD patients leads to positive long-term effects on QoL and high patient satisfaction.These results support spinal deformity correction to improve long-term QoL in DMD patients. 展开更多
关键词 Duchenne muscular dystrophy SCOLIOSIS SURGICAL Functional OUTCOMES
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Lama1 upregulation prolongs the lifespan of the dy^(H)/dy^(H) mouse model of LAMA2-related congenital muscular dystrophy
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作者 Yidan Liu Dandan Tan +10 位作者 Kaiyue Ma Huaxia Luo Jingping Mao Jihang Luo Qiang Shen Luzheng Xu Shiqi Yang Lin Ge Yuxuan Guo Hong Zhang Hui Xiong 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2024年第10期1066-1078,共13页
LAMA2-related congenital muscular dystrophy(LAMA2-CMD),characterized by laminin-α2 deficiency,is debilitating and ultimately fatal.To date,no effective therapy has been clinically available.Laminin-a1,which shares si... LAMA2-related congenital muscular dystrophy(LAMA2-CMD),characterized by laminin-α2 deficiency,is debilitating and ultimately fatal.To date,no effective therapy has been clinically available.Laminin-a1,which shares significant similarities with laminin-a2,has been proven as a viable compensatory modifier.To evaluate its clinical applicability,we establish a Lama2 exon-3-deletion mouse model(dy^(H)/dy^(H)).The dy^(H)/dy^(H) mice exhibit early lethality and typical LAMA2-CMD phenotypes,allowing the evaluation of various endpoints.In dy^(H)/dy^(H) mice treated with synergistic activation mediator-based CRISPRa-mediated Lama1 upregulation,a nearly doubled median survival is observed,as well as improvements in weight and grip.Significant therapeutical effects are revealed by MRl,serum biochemical indices,and muscle pathology studies.Treating LAMA2-CMD with LAMA1 upregulation is feasible,and early intervention can alleviate symptoms and extend lifespan.Additionally,we reveal the limitations of LAMA1 upregulation,including high-dose mortality and non-sustained expression,which require further optimization in future studies. 展开更多
关键词 Disease model Gene therapy CRISPRa congenital muscular dystrophy LAMA2
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The resistive range of motion exercise training in Duchenne muscular dystrophy:a case study
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作者 Ravneet Singh 《TMR Non-Drug Therapy》 2023年第2期12-17,共6页
Background:To determine the effectiveness of resistive range of motion exercises in improving muscle strength and functional abilities in Duchenne muscular dystrophy.The study was also aimed to determine if resistive ... Background:To determine the effectiveness of resistive range of motion exercises in improving muscle strength and functional abilities in Duchenne muscular dystrophy.The study was also aimed to determine if resistive range of motion exercises can slow down the progression of the disease.Methods:A seven-year-old male child was diagnosed with Duchenne muscle dystrophy presented to outpatient physiotherapy clinic.The patient was presented with difficulty in stair climbing,sitting up from the floor,fatigue,and muscle weakness specifically weakness in the proximal limb muscles.The progressive resistive range of motion training was implemented for four years to improve muscle strength and functional abilities.The medical research council grading scale,north ambulatory assessment scale,and creatine kinase were used to evaluate muscle strength,functional abilities,and creatine kinase levels.Results:The muscular strength and functional abilities did not improve after four years of exercise training.The creatine kinase levels were decreased over the period of four years.Conclusion:Resistive range of motion exercises are helpful in maintaining the muscular strength and functional abilities in Duchenne muscular dystrophy. 展开更多
关键词 muscular dystrophy Duchenne muscular dystrophy exercise training resistive range of motion creatine kinase
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Prenatal Diagnosis of Fukuyama Congenital Muscular Dystrophy by Optical Genomic Mapping in a Chinese Family
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作者 Jia Zhou Hui Xiong +2 位作者 Jingmin Yang Xiaona Fu Luming Sun 《Maternal-Fetal Medicine》 CAS CSCD 2024年第3期131-133,共3页
Fukuyama congenital muscular dystrophy(FCMD)is an autosomal recessive disorder first described by Fukuyama in 1960.1 It typically manifests with generalized muscle weakness and hypotonia from infancy,often requiring a... Fukuyama congenital muscular dystrophy(FCMD)is an autosomal recessive disorder first described by Fukuyama in 1960.1 It typically manifests with generalized muscle weakness and hypotonia from infancy,often requiring assistive devices for mobility.Patients frequently exhibit cognitive deficits,varying degrees of seizures,and specific neuroimaging,such as micropolygyria,hydrocephalus,and cerebellar malformations. 展开更多
关键词 MAPPING muscular dystrophy
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Tetramethylpyrazine Nitrone Improved Motor Deficits and Alleviated Dystrophic Muscle Pathology in the <i>mdx</i>Mouse Model of Duchenne Muscular Dystrophy
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作者 Fengjiao Wang Jing Wen +7 位作者 Guiliang Zhang Zheng Liu Haijing Zhong Gaoxiao Zhang Yewei Sun Pei Yu Yuqiang Wang Zaijun Zhang 《Journal of Biosciences and Medicines》 2020年第8期56-66,共11页
Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive neuromuscular disorder caused by mutations in the dystrophin encoding gene, with the characteristics of a severe and progressive destruction of muscle s... Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive neuromuscular disorder caused by mutations in the dystrophin encoding gene, with the characteristics of a severe and progressive destruction of muscle structure and function. Skeletal muscle fibrosis is one of the pathological features of DMD. Tetramethylpyrazine (2,3,5,6-tetramethylpyrazine, TMP) has been demonstrated to reduce heart and liver fibrosis. Meanwhile, previous studies showed that Tetramethylpyrazine nitrone (TBN), a nitrone derivative of TMP, has promising therapeutic effects in several neurodegenerative models and is more potent than TMP. In this study, we investigated the potential effect of TBN on the <em>mdx</em> mouse model of DMD. Eight-week-old <em>mdx</em> mice were administered with TBN (30 mg/kg) intragastrically twice daily, with deflazacort (1 mg/kg) once a day as a positive control, for a total of 24 weeks. Behavioral tests including pole-climbing open-field test were monitored every 4 weeks. Histopathological assessment was conducted in the gastrocnemius and diaphragm muscles. The effects of TBN on protein levels of dysferlin were measured by immunohistochemistry. TBN significantly reduced the climbing time in pole test and increased the total distance moved in an open-field test of <em>mdx</em> mice. TBN attenuated fibrosis in the gastrocnemius and diaphragmatic muscles. In addition, TBN protected gastrocnemius muscle fibers via increasing expression of the dysferlin in <em>mdx </em>mice. In conclusion, this study demonstrated that TBN could improve the motor deficits and muscle pathology of <em>mdx</em> mouse, and it is worth further exploring the mechanism of action of TBN for DMD treatment. 展开更多
关键词 Duchenne muscular dystrophy Fibrosis DYSFERLIN TBN mdx Mouse
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AB087.Corneal phenotype of a Slc4a11 knockout murine model for congenital hereditary endothelial dystrophy
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作者 Sergiu Vlad Antoine Sylvestre-Bouchard +5 位作者 Hasitha Alwis Weerasekera Rami Darwich Marilyse Piché Khampoun Sayasith Joseph Casey Isabelle Brunette 《Annals of Eye Science》 2018年第1期493-493,共1页
Background:Congenital hereditary endothelial dystrophy(CHED)is characterized by blindness at birth or in early infancy resulting from bilateral corneal opacification,and is linked to mutation in the Slc4a11 gene.A Slc... Background:Congenital hereditary endothelial dystrophy(CHED)is characterized by blindness at birth or in early infancy resulting from bilateral corneal opacification,and is linked to mutation in the Slc4a11 gene.A Slc4a11 knockout(KO)mouse,generated by gene deletion(Vithana et al.Nat Genet 2006),was acquired in order to study this disease.To confirm the phenotype of this Slc4a11 KO mouse model as a function of age,using the wild type(WT)mouse as a control.Methods:Genotyping was performed by PCR(REDExtract-N-AmpTM Tissue PCR Kit,Sigma-Aldrich,Oakville,ON).Slc4a11 WT and KO mice populations aged from 5 to 50 weeks were studied(n=5 animals per age group;5-year age intervals).Slit lamp examination,anterior segment-ocular coherence tomography(OCT930SR;Thorlabs,Inc.,Newton,NJ),corneal endothelial cell staining,and scanning(SEM)and transmission(TEM)electron microscopy were used to assess the morphological and cellular differences between the two groups.The expression of basolateral membrane transporter NaBC1 within the corneal endothelium was also assessed using immunohistochemistry.Results:Diffuse and progressive corneal opacification was observed at the slit lamp in the Slc4a11 KO mice,starting at 10 weeks.The central corneal thickness(CCT)also increased progressively as a function of time.In comparison,Slc4a11 WT corneas remained clear over the entire study period.Early TEM results showed vacuole degeneration of the corneal endothelium in the 15-week KO mouse,which was not seen in the same age WT mouse.Conclusions:The corneal phenotype of this Slc4a11 KO mouse is representative of the clinical manifestations of CHED in human subjects,confirming the usefulness of this model for studying pathophysiology and therapeutic alternatives for Slc4a11-associated corneal dystrophies. 展开更多
关键词 Slc4a11 mouse congenital hereditary endothelial dystrophy(CHED)
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The status of the cervical spine in preschool children with a history of congenital muscular torticollis
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作者 Anna M.Ohman 《Open Journal of Therapy and Rehabilitation》 2013年第2期31-35,共5页
Background: Infants with congenital muscular torticollis are born with an asymmetric range of motion and a muscular imbalance in the cervical spine, as a result of a shortening or excessive contraction of the sternocl... Background: Infants with congenital muscular torticollis are born with an asymmetric range of motion and a muscular imbalance in the cervical spine, as a result of a shortening or excessive contraction of the sternocleidomastoid muscle. Purpose: The study aimed to investigate passive range of motion (PROM) for rotation and lateral flexion, and muscle function of the cervical spine in children that had a history of CMT as infants. Study design: a prospective cohort study. Patient sample: 58 children at the age of 3.5 to 5 years that had been treated for CMT have infants participated in the study. Method: PROM was measured with protractors and muscle function was estimated with a modified Muscle Function Scale. Data from infancy were taken from earlier records. Result: PROM in rotation of the neck was mean 98.7&#176 and PROM in lateral flexion of the neck was mean 69.1&#176. Symmetric PROM of the neck was found in 74% of the children for rotation and in 88% of the children for lateral flexion. Multiple regression showed that gender and PROM in rotation as infants had a significant impact on asymmetric PROM. Forty-five percent of the children had some degree of muscular imbalance in the lateral flexors of the neck. Conclusion: Possible risk factors for later asymmetric PROM are: gender, birth weight, gestation week and PROM in rotation as infants. These factors ought to be taken into consideration when developing guidelines for long-term follow-up. 展开更多
关键词 congenital muscular Torticollis Cervical Spine Passive Range of Motion ROTATION Muscle Function CHILDREN
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优化多重PCR检测Duchenne muscular dystrophy基因外显
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作者 白春英 于晓明 +1 位作者 史铁伟 瑞云 《赤峰学院学报(自然科学版)》 2014年第14期14-15,共2页
目的:介绍一种快速简便地优化多重PCR检测DMD基因外显子缺失的方法及详细步骤.方法:采2ml外周血,用0.2%氯化钠处理收集白细胞,再用基因组DNA提取试剂盒抽提基因组DNA,用优化的多重PCR法直接检测DMD基因外显子的缺失.结果:用该方法检测DM... 目的:介绍一种快速简便地优化多重PCR检测DMD基因外显子缺失的方法及详细步骤.方法:采2ml外周血,用0.2%氯化钠处理收集白细胞,再用基因组DNA提取试剂盒抽提基因组DNA,用优化的多重PCR法直接检测DMD基因外显子的缺失.结果:用该方法检测DMD基因外显子缺失结果准确清晰.结论:用优化的多重PCR技术可以直接检测DMD基因外显子缺失,跟通常使用的9对引物一步法相比,具有经济、快速、简便等特点. 展开更多
关键词 优化 多重PCR DUCHENNE muscular dystrophy(DMD) 缺失
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Cardiac involvement in Duchenne and Becker muscular dystrophy 被引量:9
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作者 Sophie Mavrogeni George Markousis-Mavrogenis +1 位作者 Antigoni Papavasiliou Genovefa Kolovou 《World Journal of Cardiology》 CAS 2015年第7期410-414,共5页
Duchenne and Becker muscular dystrophy(DMD/BMD) are X-linked muscular diseases responsible for over 80% of all muscular dystrophies. Cardiac disease is a common manifestation,not necessarily related to the degree of s... Duchenne and Becker muscular dystrophy(DMD/BMD) are X-linked muscular diseases responsible for over 80% of all muscular dystrophies. Cardiac disease is a common manifestation,not necessarily related to the degree of skeletal myopathy; it may be the predominant manifestation with or without any other evidence of muscular disease. Death is usually due to ventricular dysfunction,heart block or malignant arrhythmias. Not only DMD/BMD patients,but also female carriers may present cardiac involvement. Clinically overt heart failure in dystrophinopathies may be delayed or absent,due to relative physical inactivity. The commonest electrocardiographic findings include conduction defects,arrhythmias(supraventricular or ventricular),hypertrophy and evidence of myocardial necrosis. Echocardiography can assess a marked variability of left ventricular dysfunction,independently of age of onset or mutation groups. Cardiovascular magnetic resonance(CMR) has documented a pattern of epicardial fibrosis in both dystrophinopathies' patients and carriers that can be observed even if overt muscular disease is absent. Recently,new CMR techniques,such as postcontrast myocardial T1 mapping,have been used in Duchenne muscular dystrophy to detect diffuse myocardial fibrosis. A combined approach using clinical assessment and CMR evaluation may motivate early cardioprotective treatment in both patients and asymptomatic carriers and delay the development of serious cardiac complications. 展开更多
关键词 muscular dystrophies ELECTROCARDIOGRAPHY HEART failure ECHOCARDIOGRAPHY CARDIOVASCULAR magnetic resonance imaging
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T2 Mapping and Fat Quantification of Thigh Muscles in Children with Duchenne Muscular Dystrophy 被引量:13
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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 《Current Medical Science》 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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Review and update on the molecular basis of Leber congenital amaurosis 被引量:6
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作者 Oscar Francisco Chacon-Camacho Juan Carlos Zenteno 《World Journal of Clinical Cases》 SCIE 2015年第2期112-124,共13页
Inherited retinal diseases are uncommon pathologies and one of the most harmful causes of childhood and adult blindness. Leber congenital amaurosis(LCA) is the most severe kind of these diseases accounting for approxi... Inherited retinal diseases are uncommon pathologies and one of the most harmful causes of childhood and adult blindness. Leber congenital amaurosis(LCA) is the most severe kind of these diseases accounting for approximately 5% of the whole retinal dystrophies and 20% of the children that study on blind schools. Clinical ophthalmologic findings including severe vision loss, nystagmus and ERG abnormalities should be suspected through the first year of life in this group of patients. Phenotypic variability is found when LCA patients have a full ophthalmologic examination. However, a correct diagnosis may be carried out; the determination of ophthalmologic clues as light sensibility, night blindness, fundus pigmentation, among other, join with electroretinographics findings, optical coherence tomography, and new technologies as molecular gene testing may help to reach to a precise diagnosis. Several retinal clinical features in LCA may suggest a genetic or gene particular defect; thus genetic-molecular tools could directly corroborate the clinical diagnosis. Currently, approximately 20 genes have been associated to LCA. In this review, historical perspective, clinical ophthalmological findings, new molecular-genetics technologies, possible phenotype-genotypes correlations, and gene therapy for some LCA genes are described. 展开更多
关键词 Gene therapy LEBER congenital AMAUROSIS RETINAL dystrophies CHILDHOOD BLINDNESS
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Adipose-derived stem cells enhance myogenic differentiation in the mdx mouse model of muscular dystrophy via paracrine signaling 被引量:5
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作者 Ji-qing Cao Ying-yin Liang +8 位作者 Ya-qin Li Hui-li Zhang Yu-ling Zhu Jia Geng Li-qing Yang Shan-wei Feng Juan Yang Jie Kong Cheng Zhang 《Neural Regeneration Research》 SCIE CAS CSCD 2016年第10期1638-1643,共6页
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
关键词 nerve regeneration Duchenne muscular dystrophy adipose-derived stem cells myogenic differentiation paracrine pathway DYSTROPHIN neural regeneration
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Stem cell transplantation for treating Duchenne muscular dystrophy A Web of Science-based literature analysis 被引量:3
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作者 Xiaofeng Yang 《Neural Regeneration Research》 SCIE CAS CSCD 2012年第22期1744-1751,共8页
OBJECTIVE: To identify global research trends in stem cell transplantation for treating Duchenne muscular dystrophy using a bibliometric analysis of Web of Science. DATA RETRIEVAL: We performed a bibliometric analys... OBJECTIVE: To identify global research trends in stem cell transplantation for treating Duchenne muscular dystrophy using a bibliometric analysis of Web of Science. DATA RETRIEVAL: We performed a bibliometric analysis of studies on stem cell transplantation for treating Duchenne muscular dystrophy from 2002 to 2011 retrieved from Web of Science. SELECTION CRITERIA: Inclusion criteria: (a) peer-reviewed published articles on stem cell transplantation for treating Duchenne muscular dystrophy indexed in Web of Science; (b) original research articles, reviews, meeting abstracts, proceedings papers, book chapters, editorial material, and news items; and (c) publication between 2002 and 2011. Exclusion criteria: (a) articles that required manual searching or telephone access; (b) documents that were not published in the public domain; and (c) corrected papers. MAIN OUTCOME MEASURES: (1)Annual publication output; (2) distribution according to subject areas; (3) distribution according to journals; (4) distribution according to country; (5) distribution according to institution; (6) distribution according to institution in China; (7) distribution according to institution that cooperated with Chinese institutions; (8) top-cited articles from 2002 to 2006; (9) top-cited articles from 2007 to 2011. RESULTS: A total of 318 publications on stem cell transplantation for treating Duchenne muscular dystrophy were retrieved from Web of Science from 2002 to 2011, of which almost half derived from American authors and institutes. The number of publications has gradually increased over the past 10 years. Most papers appeared in journals with a focus on gene and molecular research, such as Molecular Therapy, Neuromuscular Disorders, and PLoS One. The 10 most-cited papers from 2002 to 2006 were mostly about different kinds of stem cell transplantation for muscle regeneration, while the 10 most-cited papers from 2007 to 2011 were mostly about new techniques of stem cell transplantation for treating Duchenne muscular dystrophy. CONCLUSION: The publications on stem cell transplantation for treating Duchenne muscular dystrophy were relatively few. It also needs more research to confirm that stem cell therapy is a reliable treatment for Duchenne muscular dystrophy. 展开更多
关键词 pseudohypertrophic muscular dystrophy Duchenne muscular dystrophy Becker musculardystrophy stem cell MYOBLAST exon skipping dystrophin gene motor function cell transplantation regenerative myogenesis neural regeneration
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Umbilical cord mesenchymal stem cell transplantation for the treatment of Duchenne muscular dystrophy 被引量:4
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作者 Xiaofeng Yang Yifeng Xu Naiwu Lu Yibin Zhang Hongmei Wang Xin Lu Jiping Cui JinxuZhou Hong Shan Yanxiang Wu Xinping Liu 《Neural Regeneration Research》 SCIE CAS CSCD 2011年第10期785-789,共5页
Due to their relative abundance,stable biological properties and excellent reproductive activity,umbilical cord mesenchymal stem cells have previously been utilized for the treatment of Duchenne muscular dystrophy,whi... Due to their relative abundance,stable biological properties and excellent reproductive activity,umbilical cord mesenchymal stem cells have previously been utilized for the treatment of Duchenne muscular dystrophy,which is a muscular atrophy disease.Three patients who were clinically and pathologically diagnosed with Duchenne muscular dystrophy were transplanted with umbilical cord mesenchymal stem cells by intravenous infusion,in combination with multi-point intramuscular injection.They were followed up for 12 months after cell transplantation.Results showed that clinical symptoms significantly improved,daily living activity and muscle strength were enhanced,the sero-enzyme,electromyogram,and MRI scans showed improvement,and dystrophin was expressed in the muscle cell membrane.Hematoxylin-eosin staining of a muscle biopsy revealed that muscle fibers were well arranged,fibrous degeneration was alleviated,and fat infiltration was improved.These pieces of evidence suggest that umbilical cord mesenchymal stem cell transplantation can be considered as a new regimen for Duchenne muscular dystrophy. 展开更多
关键词 umbilical cord mesenchymal stem cells Duchenne muscular dystrophy case report DYSTROPHIN muscular force activities of daily living
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Cardiomyopathy in becker muscular dystrophy:Overview 被引量:2
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作者 Rady Ho My-Le Nguyen Paul Mather 《World Journal of Cardiology》 CAS 2016年第6期356-361,共6页
Becker muscular dystrophy(BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in... Becker muscular dystrophy(BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be discussed. 展开更多
关键词 Becker muscular dystrophy CARDIOMYOPATHY X-LINKED RECESSIVE disorder DYSTROPHIN
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