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1.
《Journal of Clinical Orthopaedics and Trauma》2020,11(5):956-960
Spine deformities could be considered a possible manifestation of the childhood hypotonia, typical feature of Kleefstra Syndrome (KS). There is a paucity of literature describing posterior spinal fusion in the Kleefstra syndrome patient. For patients who develop severe scoliotic curve, bracing is often ineffective and surgery is recommended. We report the first corrective surgery for scoliosis in one patient with KS.We describe a case of 13-year-old female with severe developmental scoliosis in KS. Preoperative examination showed a thoracolumbar scoliosis with left convex thoracic curve (T3-T9, 97°) and right convex thoracolumbar curve (T9-L3, 88°). Posterior correction, pedicle screw fixation and bone graft fusion T3-L5 was performed. Postoperatively, the thoracic curve was corrected to 33° while the thoracolumbar one to 26° and better standing posture was obtained. Six month follow-up images showed no loosening of the hardware. The patient is still in our follow-up program.Scoliosis seems to be a rare evenience of the severe hypotonia of patients with KS. We report the first case of scoliosis in KS treated successfully with surgery. Corrective surgery for spinal deformity, such as scoliosis, could help in posture and improve the quality of life especially in complicated patients such as syndromic ones. 相似文献
2.
The triphalangeal thumb-brachyectrodactyly syndrome is a very rare autosomal dominant disorder of unknown etiology characterized by an unusual pattern of limb malformations: triphalangeal thumbs and brachyectrodactyly in the hands, and ectrodactyly in the feet. In a previous report, we described the clinical and radiographical features of three related subjects with the disease and suggest that due to the unusual combination of limb defects and to its phenotypic similarity with the limb malformative pattern induced by disrupting the Hoxd13 gene in mouse, the triphalangeal thumb-brachyectrodactyly syndrome might be caused by mutations in a HOX gene. After sequencing the entire coding region of HOXD13 and the highly conserved homeodomain encoding region of HOXA13, we do not detect any deleterious mutation in any of the patients excluding that alterations at these sequences are responsible for the disease. Mutations in regulatory regions of these genes or in other genes involved in limb development might be responsible for the disease. 相似文献
3.
目的探讨粒细胞集落刺激因子(rhG-CSF)对下肢缺血模型血管新生的影响。方法制作兔左下肢缺血模型,术后随机分为rhG-CSF治疗实验组(n=24)和对照组(n=24);应用流式细胞学技术、动脉造影、免疫组织化学染色检查,比较两组外周血CD34 细胞的含量、缺血下肢侧枝血管计数及肌肉毛细血管密度。结果治疗后3 d实验组CD34 含量(%)为(0.7150±0.0873)明显高于对照组(0.3983±0.0853),差异有统计学意义(P<0.01);实验组在第15、30天时侧枝血管计数(6.33±0.82、9.17±0.75)均高于对照组(3.33±0.52、4.17±0.75)(P<0.01);第40天实验组内收肌毛细血管密度平均为8.5/HP,明显高于对照组4.2/HP(P<0.01)。结论rhG-CSF可以增加兔缺血下肢的毛细血管数量,有促进血管新生的作用。 相似文献
4.
大鼠肢体缺血再灌注后内皮素-1含量的变化及BQ-123的干预作用 总被引:2,自引:0,他引:2
①目的 探讨肢体缺血再灌注 (LIR)后内皮素 - 1 (ET - 1 )含量的变化及BQ - 1 2 3的干预作用。②方法 采用大鼠肢体缺血再灌注损伤模型 ,将Wistar大鼠随机分 8组 ,即 :对照组、单纯缺血组、再灌注 0 .5、2、4、6、1 0小时组与BQ - 1 2 3组 ,分别测定血浆LDH、CK活性、ET - 1水平及骨骼肌中MDA含量、ET - 1放免活性和组织湿 /干重比值。③结果 IR各组与对照组比较 ,血浆和骨骼肌的各项生化指标显著增高 (P <0 .0 1orP <0 .0 5) ;BQ - 1 2 3组与再灌注 4小时组比较 ,各项指标明显降低 (P <0 .0 1orP <0 .0 5)。④结论 ET - 1可能参与了肢体缺血再灌注损伤。BQ - 1 2 3可减轻肢体缺血再灌注损伤 ,对骨骼肌有保护作用。 相似文献
5.
肢体抖动短暂性脑缺血发作(LS-TIA)的临床及影像 总被引:1,自引:1,他引:0
目的 肢体抖动短暂性脑缺血发作(LS-TIA)临床少见,本文旨在提高临床医师对这一症候的认识.方法 总结北京协和医院诊断为肢体抖动短暂性脑缺血发作患者7例,行颈部血管超声、脑电图、头部核磁共振、经颅多普勒超声、核磁血管成像,4例行数字减影血管造影,2例行CT灌注成像检查.结果 均表现为发作性短暂不能控制的抖动,5例发作有明显诱因.全部患者均有抖动肢体对侧至少1条以上颅内和/或颅外动脉重度狭窄或闭塞.头部核磁共振4例显示抖动肢体对侧内分水岭脑梗死.脑电图均未见痫样放电,6例可见病变血管同侧额颞部慢波灶.经扩容和抗血小板聚集或者血管内支架治疗后,所有患者病情稳定.结论 肢体抖动短暂性脑缺血发作通常提示大血管严重的狭窄或闭塞,低灌注是其最可能的发病机制. 相似文献
6.
FK506和RS-61443对大鼠异体肢体移植的联合免疫抑制作用 总被引:3,自引:0,他引:3
目的 通过大鼠异体肢体移植模型 ,旨在分析 FK5 0 6和 RS- 6 14 4 3对大鼠异体肢体移植中急性排斥反应的免疫抑制作用。 方法 选择雄性 Wistar和 SD大鼠为供、受体 ,以 FK5 0 6和 RS- 6 14 4 3为免疫抑制剂 ,对照组为术后不用药组 ,实验组根据用药剂量和药物不同分为 6组 ,各组用药时间均为 5周 (每日 1次共 2周 ,然后每周 2次共 3周 ) ,进行了 10 1例异体肢体移植动物实验。观察大鼠一般情况、移植肢体排斥反应及存活时间。 结果 对照组肢体平均存活时间为 (7.0 0± 0 .78)天 ;实验组 1~ 6组移植肢体平均存活时间分别为 (17.0 8± 4 .5 0、2 3.2 0± 5 .0 5、11.19±2 .2 8、16 .33± 1.83、13.33± 3.2 2和 5 8.76± 6 .81)天。 结论 FK5 0 6和 RS- 6 14 4 3能抑制大鼠同种异体肢体移植术后急性移植排斥反应的发生 ,并能延长移植肢体的存活时间。 相似文献
7.
胎儿主要肢骨发育时间表──超声骨龄 总被引:1,自引:0,他引:1
用B超检测正常妊娠中的胎儿。选择受精龄为12至38整周(completedweek)的胎儿297例。测量其主要肢骨(干)长度。并将所测数据进行统计学处理。结果表明胎儿肢骨的生长发育与胎龄有显著的正相关关系。 相似文献
8.
M. K. Watson L. S. Jakobson 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1997,117(2):273-280
In the present study, a kinematic analysis was made of unconstrained, natural prehension movements directed toward an object
approaching the observer on a conveyor belt at one of three constant velocities, from one of three different directions (head-on
or along the fronto-parallel plane coming either from the subject′s left or right). Subjects were required to grasp the object
when it reached a target located 20 cm directly in front of the hand′s start position. The kinematic analysis revealed that
both the transport and grasp components of the movement changed in response to the experimental manipulations, but did so
in a manner that guaranteed that, for objects approaching from a given direction, hand closure would begin at a constant time
prior to object contact (regardless of the object’s approach speed). The kinematic analysis also revealed, however, that the
onset of hand closure began earlier with objects approaching from the right than from other directions – an effect which would
not be predicted if time to contact was the key variable controlling the onset of hand closure. These results, then, lend
only partial support to the theory that temporal coordination between the transport and grasp components of prehension is
ensured through their common dependence on time to contact information.
Received: 20 September 1996 / Accepted: 16 June 1997 相似文献
9.
10.
Two cases of bipartite tarsal navicular bone are presented. The radiographic and computed tomography (CT) findings of this anatomical variant are described. Correct recognition of this entity is important, both because it may be the cause of symptoms perse, and because it may be misdiagnosed as a fracture. When plain films are not diagnostic, CT scanning is helpful in distinguishing between a fracture and this variant. 相似文献