[目的]研究前后路联合矫形治疗僵硬脊柱侧弯畸形。[方法]男6例，女12例；年龄11．18岁，平均15.2岁，先天性胸腰段侧凸8例，胸段侧凸＋胸腰段侧凸9例，其中Luque氏棒后路矫形后翻修1例。均采用前路松解后，进行ADS（anterior derotation...[目的]研究前后路联合矫形治疗僵硬脊柱侧弯畸形。[方法]男6例，女12例；年龄11．18岁，平均15.2岁，先天性胸腰段侧凸8例，胸段侧凸＋胸腰段侧凸9例，其中Luque氏棒后路矫形后翻修1例。均采用前路松解后，进行ADS（anterior derotation spondylodese，ADS）前路矫形，2周后再进行后路PRSS（plate-rod system for scoliosis）矫形。[结果]本组病例获得6个月-2年（平均18个月）随访，其矫形效果满意。术前平均Cobb＇s角99.4°（70°～110°），术后平均Cobb’s角42．4°（30°-64°），平均矫正率57．4％。侧弯（冠状面畸形）矫正效果良好，平背或后凸畸形者与腰椎前凸术后基本达到正常的矢状重建。无明显并发症。仅内固定棒断裂1例。[结论]前后路联合矫形治疗重度脊柱侧弯畸形可取得较好的矫正结果。展开更多
目的通过临床实例进一步评价PRSS系统治疗儿童及青少年特发性脊柱侧弯的临床疗效。方法我院采用北京协和医院骨科研制的"脊柱侧弯板-棍矫正装置"(plate-rodsy stem for scoliosis,简称PRSS系统)对10例脊柱侧弯患者进行矫正治...目的通过临床实例进一步评价PRSS系统治疗儿童及青少年特发性脊柱侧弯的临床疗效。方法我院采用北京协和医院骨科研制的"脊柱侧弯板-棍矫正装置"(plate-rodsy stem for scoliosis,简称PRSS系统)对10例脊柱侧弯患者进行矫正治疗。PRSS矫正力由弹力板棍提供,不需植骨融合,允许矫正节段脊柱继续生长。结果10例均取得了较好疗效,病情得到了不同程度改善。结论PRSS是新型有效的脊柱侧弯矫正装置,特别适于生长发育中儿童的脊柱侧弯,其矫正方式和原理均与国内外流行方法不同,具有不易发生截瘫和脱钩的优点;PRSS系统能通过一次手术较为满意地矫正脊柱侧弯并维持其矫正,不需要反复多次手术去延长或更换内固定,装置理想还能自动随儿童长高而延长,不需要行后路植骨,其疗效及预后均优于以往的传统手术。展开更多
AIM: To describe protease serine 1 (PRSS1) gene mutations in patients with autoimmune pancreatitis (AIP) and the clinical features of AIP. METHODS: Fourteen patients with AIP, 56 with other chronic pancreatitis, 254 w...AIM: To describe protease serine 1 (PRSS1) gene mutations in patients with autoimmune pancreatitis (AIP) and the clinical features of AIP. METHODS: Fourteen patients with AIP, 56 with other chronic pancreatitis, 254 with pancreatic cancer and 120 normal controls were studied. The mutations and polymorphisms of four genes involved with pancreatitis or pancreatic cancer, PRSS1 , SPINK1 , CFTR and MEN1 , were sequenced. The pathogenic mechanism of AIP was investigated by comparing the wild-type expression system with the p.81Leu→Met mutant expression system. RESULTS: Two novel mutations (p.81Leu→Met and p.91Ala→Ala) were found in PRSS1 gene from four patients with AIP. PRSS1_p.81Leu→Met mutation led to a trypsin display reduction (76.2%) combined with phenyl agarose (Ca2+ induced failure). Moreover, the ratio of trypsin/amylase in patients with AIP was higher than in the patients with pancreatic cancer and other pancreatitis. A large number of lymphocytes and plasma cells were found in the bile ducts accompanied by hyperplasia of myofibroblasts. CONCLUSION: Autoimmune pancreatitis may be related to PRSS1 gene mutations.展开更多
AIM: To investigate mutation of serine protease 1-cationic trypsinogen (CT, PRSS1) gene in members of a Thai family with hereditary pancreatitis and pancreatic cancer. METHODS: Polymerase chain reaction and direct seq...AIM: To investigate mutation of serine protease 1-cationic trypsinogen (CT, PRSS1) gene in members of a Thai family with hereditary pancreatitis and pancreatic cancer. METHODS: Polymerase chain reaction and direct sequencing were performed to analyze the PRSS1 gene in two members of the family affected by pancreatitis. Allele specific amplification (ASA) method was then developed to detect the mutation of the PRSS1 gene in all available members of the family and normal control subjects. RESULTS: A cytosine (C) to thymine (T) mutation at position 2441 (g.2441C>T) of the PRSS1 gene, which results in a substitution of arginine by cysteine at position 116 (R116C) of CT, was identified by direct sequencing in both clinically affected members of the family but was not found in the unaffected member. This mutation, which might be arising from deamination of methylated cytosine in CpG dinucleotide of codon 116 (CGT>TGT), was also detected by the ASA method in the two affected members and a proband's brother but was not observed in unaffected members and 54 normal control subjects. CONCLUSION: Autosomal dominant pancreatitis with increased cancer risk in the studied Thai family is most likely due to missense (R116C) mutation in the PRSS1 gene.展开更多
文摘[目的]研究前后路联合矫形治疗僵硬脊柱侧弯畸形。[方法]男6例，女12例；年龄11．18岁，平均15.2岁，先天性胸腰段侧凸8例，胸段侧凸＋胸腰段侧凸9例，其中Luque氏棒后路矫形后翻修1例。均采用前路松解后，进行ADS（anterior derotation spondylodese，ADS）前路矫形，2周后再进行后路PRSS（plate-rod system for scoliosis）矫形。[结果]本组病例获得6个月-2年（平均18个月）随访，其矫形效果满意。术前平均Cobb＇s角99.4°（70°～110°），术后平均Cobb’s角42．4°（30°-64°），平均矫正率57．4％。侧弯（冠状面畸形）矫正效果良好，平背或后凸畸形者与腰椎前凸术后基本达到正常的矢状重建。无明显并发症。仅内固定棒断裂1例。[结论]前后路联合矫形治疗重度脊柱侧弯畸形可取得较好的矫正结果。
文摘目的通过临床实例进一步评价PRSS系统治疗儿童及青少年特发性脊柱侧弯的临床疗效。方法我院采用北京协和医院骨科研制的"脊柱侧弯板-棍矫正装置"(plate-rodsy stem for scoliosis,简称PRSS系统)对10例脊柱侧弯患者进行矫正治疗。PRSS矫正力由弹力板棍提供,不需植骨融合,允许矫正节段脊柱继续生长。结果10例均取得了较好疗效,病情得到了不同程度改善。结论PRSS是新型有效的脊柱侧弯矫正装置,特别适于生长发育中儿童的脊柱侧弯,其矫正方式和原理均与国内外流行方法不同,具有不易发生截瘫和脱钩的优点;PRSS系统能通过一次手术较为满意地矫正脊柱侧弯并维持其矫正,不需要反复多次手术去延长或更换内固定,装置理想还能自动随儿童长高而延长,不需要行后路植骨,其疗效及预后均优于以往的传统手术。
基金Supported by National Natural Science Foundation of China,No. 81201362, No. 81201590, No. 21275028Putian Municipal Science and Technology Bureau Project, No. 2009S3-3+2 种基金Fujian Medical Innovations, No. 2012-CXB-21Education Department of Fujian Province, No. JA12133, No. JA12143National High Technology Investigation Project Foundation of China, No.2012AA022604
文摘AIM: To describe protease serine 1 (PRSS1) gene mutations in patients with autoimmune pancreatitis (AIP) and the clinical features of AIP. METHODS: Fourteen patients with AIP, 56 with other chronic pancreatitis, 254 with pancreatic cancer and 120 normal controls were studied. The mutations and polymorphisms of four genes involved with pancreatitis or pancreatic cancer, PRSS1 , SPINK1 , CFTR and MEN1 , were sequenced. The pathogenic mechanism of AIP was investigated by comparing the wild-type expression system with the p.81Leu→Met mutant expression system. RESULTS: Two novel mutations (p.81Leu→Met and p.91Ala→Ala) were found in PRSS1 gene from four patients with AIP. PRSS1_p.81Leu→Met mutation led to a trypsin display reduction (76.2%) combined with phenyl agarose (Ca2+ induced failure). Moreover, the ratio of trypsin/amylase in patients with AIP was higher than in the patients with pancreatic cancer and other pancreatitis. A large number of lymphocytes and plasma cells were found in the bile ducts accompanied by hyperplasia of myofibroblasts. CONCLUSION: Autoimmune pancreatitis may be related to PRSS1 gene mutations.
文摘AIM: To investigate mutation of serine protease 1-cationic trypsinogen (CT, PRSS1) gene in members of a Thai family with hereditary pancreatitis and pancreatic cancer. METHODS: Polymerase chain reaction and direct sequencing were performed to analyze the PRSS1 gene in two members of the family affected by pancreatitis. Allele specific amplification (ASA) method was then developed to detect the mutation of the PRSS1 gene in all available members of the family and normal control subjects. RESULTS: A cytosine (C) to thymine (T) mutation at position 2441 (g.2441C>T) of the PRSS1 gene, which results in a substitution of arginine by cysteine at position 116 (R116C) of CT, was identified by direct sequencing in both clinically affected members of the family but was not found in the unaffected member. This mutation, which might be arising from deamination of methylated cytosine in CpG dinucleotide of codon 116 (CGT>TGT), was also detected by the ASA method in the two affected members and a proband's brother but was not observed in unaffected members and 54 normal control subjects. CONCLUSION: Autosomal dominant pancreatitis with increased cancer risk in the studied Thai family is most likely due to missense (R116C) mutation in the PRSS1 gene.
