Spine deformities have several associations with compromised cardiorespiratory function. Percutaneous coronary interventions rely on fluoroscopic anatomical landmarks to guide procedures, and distortion of the mediast...Spine deformities have several associations with compromised cardiorespiratory function. Percutaneous coronary interventions rely on fluoroscopic anatomical landmarks to guide procedures, and distortion of the mediastinal soft tissue and skeletal anatomy in conditions like kyphoscoliosis can pose unique challenges for the interventional cardiologist. Here, we report a case of elderly kyphoscoliotic male patient with worsening angina, who underwent successful percutaneous coronary intervention via the radial route.展开更多
<b><span style="font-family:Verdana;">Background:</span></b><span style="font-family:""><span style="font-family:Verdana;"> Scoliosis is a complex...<b><span style="font-family:Verdana;">Background:</span></b><span style="font-family:""><span style="font-family:Verdana;"> Scoliosis is a complex musculoskeletal torsional deformity of spine that includes: Lateral curvature in the anterior-posterior plane with a Cobb angle greater than 10 degrees, Angulation in the sagittal plane, or Rota</span><span style="font-family:Verdana;">tion in the transverse plane. Scoliosis classified into neuromuscular, idi</span><span style="font-family:Verdana;">opathic, or congenital. Radiological evaluation is done by plain radiography, computed tomography (CT), and magnetic resonance (MR). We aimed to eva</span><span style="font-family:Verdana;">luate patients with idiopathic kyphoscoliosis who underwent a freehand</span><span style="font-family:Verdana;"> posterior approach for scoliosis correction through transpedicular screws fixation. </span><b><span style="font-family:Verdana;">Setting:</span></b><span style="font-family:Verdana;"> Al-Azhar University Hospitals. </span><b><span style="font-family:Verdana;">Subjects and Methods:</span></b><span style="font-family:Verdana;"> Study was performed on 12 patients with idiopathic kyphoscoliosis who underwent a freehand posterior approach for scoliosis correction through transpedicular screws fixation in Al-Azhar University Hospitals between 2015 to 2018 & follow up for one year. </span><b><span style="font-family:Verdana;">Results:</span></b><span style="font-family:Verdana;"> Early outcome showed improved Cobb’s angle and coronal balance significantly after surgery. Correction is 95% in 2 cases (17%), 80% correction in 8 cases (66%), 60% correction in 2 cases (17%). 2 </span><span style="font-family:Verdana;">cases have CSF leakage which improved with conservative treatment. Late</span><span style="font-family:Verdana;"> follow-up shows improvement of patient deformity and cosmetic appearance </span><span style="font-family:Verdana;">to the degree of patient satisfaction occur in 7 cases (58%) associated with</span><span style="font-family:Verdana;"> high SRS-30 total scores. However, assessment of the pain in comparison to preoperative assessment show improvement of pain in 4 cases (33%), persistent in 4 cases (33%), appear in 4 cases (33%). </span><b><span style="font-family:Verdana;">Conclusion:</span></b><span style="font-family:Verdana;"> Freehand one-stage correction management of idiopathic kyphoscoliosis through the posterior approach is a safe and effective for near-total correction of deformity with a good outcome with minimal complications.展开更多
Myofibrillar myopathies(MFMs)are rare genetic and slowly progressive neuromuscular disorders.Several pathogenic mutations have been reported in MFM-related genes including DES,CRYAB,MYOT,LDB3 or ZASP,FLNC,BAG3,FHL1 an...Myofibrillar myopathies(MFMs)are rare genetic and slowly progressive neuromuscular disorders.Several pathogenic mutations have been reported in MFM-related genes including DES,CRYAB,MYOT,LDB3 or ZASP,FLNC,BAG3,FHL1 and DNAJB6.Although MFMs is commonly inherited in an autosomal dominant manner,the inheritance pattern and novel mutated genes are not thoroughly elucidated in some cases.Here,we report discovery of a novel nonsense mutation in a 29-year-old Iranian male patient with motor disorders and deformity in his lower limbs.His parents are second cousins.Hereditary Motor Sensory Neuropathy as initial genetic diagnosis was ruled out.Whole exome sequencing using NGS on Illumina Hi-Seq4000 platform was performed to identify the disease and possible mutated gene(s).Our data analysis identified a homozygous nonsense unreported c.C415T(p.R139X)variant on kyphoscoliosis peptidase(KY)gene(NM_178554:exon4).Sanger sequencing of this mutation has been performed for his other related family members.Sequencing and segregation analysis was confirmed the NGS results and autosomal recessive inheritance pattern of the disease.展开更多
Background Surgery for severe kyphoscoliosis is frequently unsatisfying because of loss of correction, high rate of pseudarthrosis and neurological complications. Several authors reported that the anterior fusion with...Background Surgery for severe kyphoscoliosis is frequently unsatisfying because of loss of correction, high rate of pseudarthrosis and neurological complications. Several authors reported that the anterior fusion with strut grafts might improve the surgical outcome. This article describes and assesses the surgical strategies and the application of autogenous tibial strut in the treatment of severe kyphoscoliosis. Methods Severe kyphoscoliosis patients ( n =39) admitted from April 1998 to September 2003 formed the study group. Different surgical strategies had been used according to the flexibility, neurological function and curve level. All patients received staged anterior and posterior surgery with a tibial strut used in the anterior fusion. The patients were followed up for 9 months to 6 years (mean 37 months). Results The mean preoperative and postoperative kyphosis was 82° and 52° respectively, and the mean scoliosis was 84° and 44° respectively. Complications included pseudarthrosis (2 cases, one with graft fracture and the other with hook displacement), posterior elements fractures (4), pleura penetrations (3, in the plastic surgery of the thoracic cage), dura tear (2), exudative pleuritis (2, in the anterior surgery), and tibia fracture of the harvesting site (1). The mean loss of correction in coronal and sagittal plane was 6° and 7° respectively. Except for 1 case, the patients with incomplete paraplegia showed improvements to varying extents. Conclusion Autogenous tibial strut can provide excellent support to the kyphoscoliotic spine: it reduces pseudarthrodic rate, loss of correction and complications of graft harvest, it also prevents the occurrence of neurological impairment.展开更多
目的：探讨应用脊柱截骨矫形技术治疗成人复杂脊柱侧后凸矫形术的安全性,并评估其临床应用价值。方法：选择2011年9月~2012年9月期间应用截骨技术治疗的成人复杂脊柱侧后凸畸形患者进行前瞻性研究。所有入选患者均于手术前后及末次随访...目的：探讨应用脊柱截骨矫形技术治疗成人复杂脊柱侧后凸矫形术的安全性,并评估其临床应用价值。方法：选择2011年9月~2012年9月期间应用截骨技术治疗的成人复杂脊柱侧后凸畸形患者进行前瞻性研究。所有入选患者均于手术前后及末次随访时测量侧凸Cobb角、最大后凸Cobb角、冠状面平衡（distance between C7 plumbline and center sacral vertical line C7PL-CSVL）和矢状面平衡（sagittal vertical axis,SVA）等影像学相关参数。同时采用SF-36量表、疼痛视觉模拟评分（VAS）、Oswestry功能障碍指数（ODI）、SRS-22量表等评估其临床疗效,并使用AISA评分法评价患者手术前后及末次随访时神经功能情况。结果：共17例患者最终纳入本次研究,其中男7例,女10例;年龄18~55岁（34.6±10.9）岁,术前侧凸Cobb角51°~97°（78.5°±13.1°）,后凸Cobb角50°~112°（71.8°±19.8°）,C7PL-CSVL为58.4±21.3mm,SVA为56.4±51.2mm。手术时间200~540min（406.1±82.2min）;术中出血量1000~12000ml（4088.9±2546.9ml）。术后侧凸Cobb角为37.7°±17.7°,后凸Cobb角为25.0°±16.4°,矫正率分别为51.9%±18.7%和67.2%±20.3%;C7PL-CSVL为18.0±9.4mm,SVA为27.6±16.9mm,均较术前明显改善。随访24.3±1.8个月,末次随访时侧、后凸Cobb角分别为39.5°±16.6°和26.2°±17.6°,C7PL-CSVL为22.1±15.4mm,SVA为30.4±17.1mm,随访期间无明显矫正丢失。术中监测均无诱发电位异常改变,无死亡、瘫痪等严重并发症,术后5例患者出现肢体远端一过性感觉功能减退,1例患者椎体前壁骨折,1例患者螺钉置钉不良,2例患者随访期间发生内固定并发症,总体并发症发生率为52.9%。术后和末次随访时的SF-36、VAS、ODI、SRS-22与术前比较均有明显改善,术后和末次随访时无显著性差异,ASIA运动和感觉评分与术前比较无显著性差异。结论：经后路脊柱截骨术治疗成人复杂脊柱侧后凸畸形矫正角度大,术后三维矫形效果满意,可显著改善患者临床症状和生活质量,但存在手术时间长、出血量大、并发症多等风险。展开更多
文摘Spine deformities have several associations with compromised cardiorespiratory function. Percutaneous coronary interventions rely on fluoroscopic anatomical landmarks to guide procedures, and distortion of the mediastinal soft tissue and skeletal anatomy in conditions like kyphoscoliosis can pose unique challenges for the interventional cardiologist. Here, we report a case of elderly kyphoscoliotic male patient with worsening angina, who underwent successful percutaneous coronary intervention via the radial route.
文摘<b><span style="font-family:Verdana;">Background:</span></b><span style="font-family:""><span style="font-family:Verdana;"> Scoliosis is a complex musculoskeletal torsional deformity of spine that includes: Lateral curvature in the anterior-posterior plane with a Cobb angle greater than 10 degrees, Angulation in the sagittal plane, or Rota</span><span style="font-family:Verdana;">tion in the transverse plane. Scoliosis classified into neuromuscular, idi</span><span style="font-family:Verdana;">opathic, or congenital. Radiological evaluation is done by plain radiography, computed tomography (CT), and magnetic resonance (MR). We aimed to eva</span><span style="font-family:Verdana;">luate patients with idiopathic kyphoscoliosis who underwent a freehand</span><span style="font-family:Verdana;"> posterior approach for scoliosis correction through transpedicular screws fixation. </span><b><span style="font-family:Verdana;">Setting:</span></b><span style="font-family:Verdana;"> Al-Azhar University Hospitals. </span><b><span style="font-family:Verdana;">Subjects and Methods:</span></b><span style="font-family:Verdana;"> Study was performed on 12 patients with idiopathic kyphoscoliosis who underwent a freehand posterior approach for scoliosis correction through transpedicular screws fixation in Al-Azhar University Hospitals between 2015 to 2018 & follow up for one year. </span><b><span style="font-family:Verdana;">Results:</span></b><span style="font-family:Verdana;"> Early outcome showed improved Cobb’s angle and coronal balance significantly after surgery. Correction is 95% in 2 cases (17%), 80% correction in 8 cases (66%), 60% correction in 2 cases (17%). 2 </span><span style="font-family:Verdana;">cases have CSF leakage which improved with conservative treatment. Late</span><span style="font-family:Verdana;"> follow-up shows improvement of patient deformity and cosmetic appearance </span><span style="font-family:Verdana;">to the degree of patient satisfaction occur in 7 cases (58%) associated with</span><span style="font-family:Verdana;"> high SRS-30 total scores. However, assessment of the pain in comparison to preoperative assessment show improvement of pain in 4 cases (33%), persistent in 4 cases (33%), appear in 4 cases (33%). </span><b><span style="font-family:Verdana;">Conclusion:</span></b><span style="font-family:Verdana;"> Freehand one-stage correction management of idiopathic kyphoscoliosis through the posterior approach is a safe and effective for near-total correction of deformity with a good outcome with minimal complications.
文摘Myofibrillar myopathies(MFMs)are rare genetic and slowly progressive neuromuscular disorders.Several pathogenic mutations have been reported in MFM-related genes including DES,CRYAB,MYOT,LDB3 or ZASP,FLNC,BAG3,FHL1 and DNAJB6.Although MFMs is commonly inherited in an autosomal dominant manner,the inheritance pattern and novel mutated genes are not thoroughly elucidated in some cases.Here,we report discovery of a novel nonsense mutation in a 29-year-old Iranian male patient with motor disorders and deformity in his lower limbs.His parents are second cousins.Hereditary Motor Sensory Neuropathy as initial genetic diagnosis was ruled out.Whole exome sequencing using NGS on Illumina Hi-Seq4000 platform was performed to identify the disease and possible mutated gene(s).Our data analysis identified a homozygous nonsense unreported c.C415T(p.R139X)variant on kyphoscoliosis peptidase(KY)gene(NM_178554:exon4).Sanger sequencing of this mutation has been performed for his other related family members.Sequencing and segregation analysis was confirmed the NGS results and autosomal recessive inheritance pattern of the disease.
文摘Background Surgery for severe kyphoscoliosis is frequently unsatisfying because of loss of correction, high rate of pseudarthrosis and neurological complications. Several authors reported that the anterior fusion with strut grafts might improve the surgical outcome. This article describes and assesses the surgical strategies and the application of autogenous tibial strut in the treatment of severe kyphoscoliosis. Methods Severe kyphoscoliosis patients ( n =39) admitted from April 1998 to September 2003 formed the study group. Different surgical strategies had been used according to the flexibility, neurological function and curve level. All patients received staged anterior and posterior surgery with a tibial strut used in the anterior fusion. The patients were followed up for 9 months to 6 years (mean 37 months). Results The mean preoperative and postoperative kyphosis was 82° and 52° respectively, and the mean scoliosis was 84° and 44° respectively. Complications included pseudarthrosis (2 cases, one with graft fracture and the other with hook displacement), posterior elements fractures (4), pleura penetrations (3, in the plastic surgery of the thoracic cage), dura tear (2), exudative pleuritis (2, in the anterior surgery), and tibia fracture of the harvesting site (1). The mean loss of correction in coronal and sagittal plane was 6° and 7° respectively. Except for 1 case, the patients with incomplete paraplegia showed improvements to varying extents. Conclusion Autogenous tibial strut can provide excellent support to the kyphoscoliotic spine: it reduces pseudarthrodic rate, loss of correction and complications of graft harvest, it also prevents the occurrence of neurological impairment.
文摘目的：探讨应用脊柱截骨矫形技术治疗成人复杂脊柱侧后凸矫形术的安全性,并评估其临床应用价值。方法：选择2011年9月~2012年9月期间应用截骨技术治疗的成人复杂脊柱侧后凸畸形患者进行前瞻性研究。所有入选患者均于手术前后及末次随访时测量侧凸Cobb角、最大后凸Cobb角、冠状面平衡（distance between C7 plumbline and center sacral vertical line C7PL-CSVL）和矢状面平衡（sagittal vertical axis,SVA）等影像学相关参数。同时采用SF-36量表、疼痛视觉模拟评分（VAS）、Oswestry功能障碍指数（ODI）、SRS-22量表等评估其临床疗效,并使用AISA评分法评价患者手术前后及末次随访时神经功能情况。结果：共17例患者最终纳入本次研究,其中男7例,女10例;年龄18~55岁（34.6±10.9）岁,术前侧凸Cobb角51°~97°（78.5°±13.1°）,后凸Cobb角50°~112°（71.8°±19.8°）,C7PL-CSVL为58.4±21.3mm,SVA为56.4±51.2mm。手术时间200~540min（406.1±82.2min）;术中出血量1000~12000ml（4088.9±2546.9ml）。术后侧凸Cobb角为37.7°±17.7°,后凸Cobb角为25.0°±16.4°,矫正率分别为51.9%±18.7%和67.2%±20.3%;C7PL-CSVL为18.0±9.4mm,SVA为27.6±16.9mm,均较术前明显改善。随访24.3±1.8个月,末次随访时侧、后凸Cobb角分别为39.5°±16.6°和26.2°±17.6°,C7PL-CSVL为22.1±15.4mm,SVA为30.4±17.1mm,随访期间无明显矫正丢失。术中监测均无诱发电位异常改变,无死亡、瘫痪等严重并发症,术后5例患者出现肢体远端一过性感觉功能减退,1例患者椎体前壁骨折,1例患者螺钉置钉不良,2例患者随访期间发生内固定并发症,总体并发症发生率为52.9%。术后和末次随访时的SF-36、VAS、ODI、SRS-22与术前比较均有明显改善,术后和末次随访时无显著性差异,ASIA运动和感觉评分与术前比较无显著性差异。结论：经后路脊柱截骨术治疗成人复杂脊柱侧后凸畸形矫正角度大,术后三维矫形效果满意,可显著改善患者临床症状和生活质量,但存在手术时间长、出血量大、并发症多等风险。
