The treatments for early-onset scoliosis(EOS)remain great challenges for spine surgeons.This study aimed to comprehensively review the treatments for EOS,especially the advancements made in the last decade.Current stu...The treatments for early-onset scoliosis(EOS)remain great challenges for spine surgeons.This study aimed to comprehensively review the treatments for EOS,especially the advancements made in the last decade.Current studies on EOS were retrieved through a search on PubMed,UpToDate,the Web of Science Core Collection and Scopus were reviewed.The most pertinent information related to the current treatments for EOS was collected.The foci of treatments for EOS have included creating a well-developed thoracic cavity,improving lung volume,and improving pulmonary function.Conservative treatments include bracing,casting,halo-gravity traction,and physiotherapy.Serial casting is the most effective conservative treatment for EOS.Surgical treatments mainly include growth-friendly techniques,which are generally classified into three types according to the amount of correction force applied:distraction-based,compression-based,and growth-guided.The distraction-based systems include traditional or conventional growing rods,magnetically controlled growing rods,and vertical expandable prosthesis titanium ribs.The compression-based systems include vertebral body stapling and tethering.The growth-guided systems include the Shilla system and modern Luque trolley.In addition,some newer techniques have emerged in recent years,such as posterior dynamic deformity correction(ApiFix).For EOS patients presenting with sharp deformities in a long,congenital spinal deformity,a hybrid technique,one-stage posterior osteotomy with short segmental fusion and dual growing rods,may be a good choice.Hemivertebra resection is the gold standard for congenital scoliosis caused by single hemivertebra.Although the patient’s growth potential is preserved in growth-friendly surgeries,a high complication rate should be expected,as well as a prolonged treatment duration and additional costs.Knowledge about EOS and its treatment options is rapidly expanding.Conservative treatments have specific limitations.For curves requiring a surgical intervention,surgical techniques may vary depending on the patients’characteristics,the surgeon’s experience,and the actual state of the country.展开更多
Huntington's disease(HD)is an autosomal dominant degenerative disease that mainly encompasses movement,cognition,and behavioral symptoms.The apolipoprotein E(APOE)gene is thought to be associated with many neurode...Huntington's disease(HD)is an autosomal dominant degenerative disease that mainly encompasses movement,cognition,and behavioral symptoms.The apolipoprotein E(APOE)gene is thought to be associated with many neurodegenerative diseases.Here,we enrolled a cohort of 223 unrelated Han Chinese patients with HD and1241 unrelated healthy controls in Southeastern China and analyzed the correlation between APOE genotypes and HD phenotypes.The results showed that the frequency of the E4 allele(7.1%)in HD patients was statistically less than that in controls(12.0%)(P =0.004).In addition,we divided patients into motor-onset and non-motor-onset groups,and analyzed the relationship with APOE genotypes.The results,however,were negative.Furthermore,the age at onset(AAO),defined as the age at the onset of motor symptoms,was compared in each APOE genotype subgroup and multivariate regression analysis was used to exclude the interference of CAG repeat length on AAO,but no association was found between APOE genotypes and AAO.Finally,we analyzed adult-onset HD to exclude the interference caused by juvenile HD(n = 13),and the results were negative.Therefore,our study suggests that APOE may not be a genetic modifier for HD,especially for adult-onset HD among Chinese of Han ethnicity.To the best of our knowledge,this is the first study of the correlation between APOE genotypes and HD phenotypes in a Han Chinese population.展开更多
Dear Editor,Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease characterized by movement disorder,progressive dementia,and psychiatric and behavioral changes.It is caused by unstable expande...Dear Editor,Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease characterized by movement disorder,progressive dementia,and psychiatric and behavioral changes.It is caused by unstable expanded CAG trinucleotide repeats in exon 1 of the huntingtin (HTT)gene,located on chromosome 4p16.3 [1].展开更多
Huntington disease（HD） is a progressive autosomal dominantly inherited neurodegenerative disorder, characterized with the typical manifestations of involuntary movements, cognitive dysfunction, and psychiatric or be...Huntington disease（HD） is a progressive autosomal dominantly inherited neurodegenerative disorder, characterized with the typical manifestations of involuntary movements, cognitive dysfunction, and psychiatric or behavioral disturbance. It results from an expansion in the number of CAG repeats in the first exon of the huntingtin（HTT） gene. In China, since the first case report in 1959, the knowledge of this disorder has been involving a lot, especially in the latest decade. In this review, we meta-analysis and summarize the research reports that were published by Chinese researchers since 1959, so that researchers whose native language were not Chinese can get a general idea of the research development of HD in China. Briefly, the research of HD in China can be broadly divided into three stages. Firstly,before 1993, there were scattered case reports of HD that were solely based on Clinical features and family history. Then,with the discovery of the HD gene in 1993, it became possible for the genetic confirmation of the reported cases that made the diagnosis more accurate and informative. In the last few years,Chinese researchers who were active in the HD research started to build their own database to study the clinical and genetic feature of this disorder and also collaborated a lot in this field. The progress outlined in this review indicates the beginning of an exciting new era in HD research in China.展开更多
基金The study was granted by a grant from the National Natural Science Foundation of China(No.81972037).
文摘The treatments for early-onset scoliosis(EOS)remain great challenges for spine surgeons.This study aimed to comprehensively review the treatments for EOS,especially the advancements made in the last decade.Current studies on EOS were retrieved through a search on PubMed,UpToDate,the Web of Science Core Collection and Scopus were reviewed.The most pertinent information related to the current treatments for EOS was collected.The foci of treatments for EOS have included creating a well-developed thoracic cavity,improving lung volume,and improving pulmonary function.Conservative treatments include bracing,casting,halo-gravity traction,and physiotherapy.Serial casting is the most effective conservative treatment for EOS.Surgical treatments mainly include growth-friendly techniques,which are generally classified into three types according to the amount of correction force applied:distraction-based,compression-based,and growth-guided.The distraction-based systems include traditional or conventional growing rods,magnetically controlled growing rods,and vertical expandable prosthesis titanium ribs.The compression-based systems include vertebral body stapling and tethering.The growth-guided systems include the Shilla system and modern Luque trolley.In addition,some newer techniques have emerged in recent years,such as posterior dynamic deformity correction(ApiFix).For EOS patients presenting with sharp deformities in a long,congenital spinal deformity,a hybrid technique,one-stage posterior osteotomy with short segmental fusion and dual growing rods,may be a good choice.Hemivertebra resection is the gold standard for congenital scoliosis caused by single hemivertebra.Although the patient’s growth potential is preserved in growth-friendly surgeries,a high complication rate should be expected,as well as a prolonged treatment duration and additional costs.Knowledge about EOS and its treatment options is rapidly expanding.Conservative treatments have specific limitations.For curves requiring a surgical intervention,surgical techniques may vary depending on the patients’characteristics,the surgeon’s experience,and the actual state of the country.
基金supported by a grant from the National Natural Science Foundation of China (81125009)the Key Research and Development Project of Zhejiang Province, China (2018C03G2011218)the Research Foundation for Distinguished Scholars of Zhejiang University (188020193810101/089)
文摘Huntington's disease(HD)is an autosomal dominant degenerative disease that mainly encompasses movement,cognition,and behavioral symptoms.The apolipoprotein E(APOE)gene is thought to be associated with many neurodegenerative diseases.Here,we enrolled a cohort of 223 unrelated Han Chinese patients with HD and1241 unrelated healthy controls in Southeastern China and analyzed the correlation between APOE genotypes and HD phenotypes.The results showed that the frequency of the E4 allele(7.1%)in HD patients was statistically less than that in controls(12.0%)(P =0.004).In addition,we divided patients into motor-onset and non-motor-onset groups,and analyzed the relationship with APOE genotypes.The results,however,were negative.Furthermore,the age at onset(AAO),defined as the age at the onset of motor symptoms,was compared in each APOE genotype subgroup and multivariate regression analysis was used to exclude the interference of CAG repeat length on AAO,but no association was found between APOE genotypes and AAO.Finally,we analyzed adult-onset HD to exclude the interference caused by juvenile HD(n = 13),and the results were negative.Therefore,our study suggests that APOE may not be a genetic modifier for HD,especially for adult-onset HD among Chinese of Han ethnicity.To the best of our knowledge,this is the first study of the correlation between APOE genotypes and HD phenotypes in a Han Chinese population.
基金supported by the Key Research and Development Project of Zhejiang Province,China (2019C03039)the Research Foundation for Distinguished Scholars of Zhejiang University,China(188020193810101/089)。
文摘Dear Editor,Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease characterized by movement disorder,progressive dementia,and psychiatric and behavioral changes.It is caused by unstable expanded CAG trinucleotide repeats in exon 1 of the huntingtin (HTT)gene,located on chromosome 4p16.3 [1].
基金supported by a grant from the National Natural Science Foundation of China(81125009)
文摘Huntington disease（HD） is a progressive autosomal dominantly inherited neurodegenerative disorder, characterized with the typical manifestations of involuntary movements, cognitive dysfunction, and psychiatric or behavioral disturbance. It results from an expansion in the number of CAG repeats in the first exon of the huntingtin（HTT） gene. In China, since the first case report in 1959, the knowledge of this disorder has been involving a lot, especially in the latest decade. In this review, we meta-analysis and summarize the research reports that were published by Chinese researchers since 1959, so that researchers whose native language were not Chinese can get a general idea of the research development of HD in China. Briefly, the research of HD in China can be broadly divided into three stages. Firstly,before 1993, there were scattered case reports of HD that were solely based on Clinical features and family history. Then,with the discovery of the HD gene in 1993, it became possible for the genetic confirmation of the reported cases that made the diagnosis more accurate and informative. In the last few years,Chinese researchers who were active in the HD research started to build their own database to study the clinical and genetic feature of this disorder and also collaborated a lot in this field. The progress outlined in this review indicates the beginning of an exciting new era in HD research in China.
