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11.
Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disease characterized by progressive lower limb spasticity. Recent studies revealed that biallelic variants in RNF170 gene cause autosomal recessive complicated HSP with infancy onset. Here, we report an adolescent-onset HSP patient from a consanguineous Chinese family, with lower extremity stiffness, spastic gait, and unstable straight-line walking as the main manifestations. Whole-exome sequencing identifies a novel RNF170 mutation c.190C>T (p.R64*), which co-segregates with the disease in this pedigree. Functional analysis, including quantitative real-time PCR (RT-qPCR) and Western blot, indicates that both the mRNA and protein levels of mutant RNF170 are significantly reduced, which confirms the loss-of-function mechanism. Our study expands the spectrum of RNF170-associated HSP, while the RNF170 protein-involved degradation of the inositol 1,4,5-trisphosphate receptor in neurodegenerative motor neuron disorders deserves further investigation. 相似文献
12.
The purpose of this investigation was to determine whether paraplegia induced by neoplastic cord compression affects the pharmacodynamics of phenobarbital general anesthesia or of pentylenetet-razol (PTZ)-induced convulsions. Paraplegic rats harboring a thora-columbar epidural tumor, or an identical hindlimb tumor mass, received an i.v. infusion of phenobarbital until the onset of anesthesia. At that point, the phenobarbital concentrations in the CSF and serum were measured. Similarly, PTZ was infused until the onset of maximal seizures. It was found that changes related to systemic tumor growth and newly developed paraplegia due to neoplastic spinal cord compression did not attenuate the pharmacodynamics of phenobarbital. However, sustained paraplegia of 4 days duration reduced CNS sensitivity to the hypnotic action of the barbiturate as evidenced by the higher cerebrospinal fluid phenobarbital concentration required to induce anesthesia (170 ± 31 vs 125 ± 20 mg/L; P < 0.05). On the other hand, sustained paraplegia did not affect brain threshold concentration for PTZ-induced seizures. 相似文献
13.
BACKGROUND: Paraplegia and peripheral nerve injuries may arise after general anaesthesia from many causes but are easily ascribed to central block if the latter has been used. CASE REPORT: A 56-yr-old woman, with Bechterev disease but otherwise healthy, was operated with left-sided thoracotomy to remove a tumour in the left lower lobe. She had an epidural catheter inserted in the mid-thoracic area before general anaesthesia was started. Bupivacaine 0.5% 5 ml was injected once and the infusion of bupivacaine 0.1% with 2 micrograms/ml fentanyl and 2 micrograms/ml adrenaline (5 ml/h) started at the end of surgery. The patient woke up with total paralysis in the lower limb and sensory analgesia at the level of T8, which remained unchanged at several observations. Laminectomy, performed 17 h after the primary operation, showed a large piece of a haemostatic sponge (Surgicel) compressing the spinal cord, which was then decompressed but the motor and sensory deficit remained virtually unchanged both then and a year later. CONCLUSIONS: This case shows--once again--that although central blocks may cause serious neurological complications and paraplegia, other causes are possible and have to be considered. However, all patients with an epidural catheter must be monitored for early signs and symptoms of an intraspinal process and the appropriate treatment has to be instituted instantly. 相似文献
14.
Reid E 《Journal of neurology》1999,246(11):995-1003
The hereditary spastic paraplegias are a complex group of neurodegenerative conditions which are characterised by slowly
progressive lower limb spasticity. This article describes the main clinical features of pure and complicated hereditary spastic
paraplegias and summarises recent advances in our understanding of the molecular genetics of these conditions.
Received: 2 June 1999 Accepted: 7 August 1999 相似文献
15.
Tetsuo Hadama Yoshiaki Mori Osamu Shigemitsu Tatsunori Kimura Shinji Miyamoto Hidenori Sako Tooru Soeda Toshihide Yoshimatsu Yuzo Uchida 《Surgery today》1996,26(1):60-63
We report herein the rare case of a 79-year-old man who suffered permanent paraplegia after undergoing an otherwise successful total arch replacement for a ruptured aortic arch aneurysm. During cardiopulmonary bypass, perfusion to the distal aorta was maintained from the femoral artery, and postoperative aortography showed intact tributaries from the aorta including the intercostal arteries. Postoperative paraplegia is an extremely rare complication of operations on the aortic arch; however, we speculate that the paraplegia in this patient could be attributed either to a steal phenomenon involving the radicular artery, or to the anatomical particularity of the spinal cord artery described by Cole and Gutelius as the segmental system. 相似文献
16.
目的:分析遗传性痉挛性截瘫发病例的临床特点,探讨影响预后的因素。方法:总结了20例散发遗传性痉挛性截瘫患者的临床资料,并进行了随访。结果:起病年龄平均为4岁7个月,首发症状均为步态异常,以进行性痉挛性截瘫为特征,且肌张力增高较肌力减弱更为显著。体感诱发电位检查6例中5例有异常。脊髓MRI检查有2例异常。10例4岁前发病者,8例不能独走,5例发展为复杂型;10例4岁以后发病者,均能维持独直能力且均为单纯型,2例DDST筛查有精神发育落后的患儿均转为复杂型,结论:遗传性痉挛性截瘫散发病例的临床特点与有家族史者相似。体感诱发电位检查可具有重要的诊断价值。4岁前发病者或早期伴有精神发育落的地凰可能较差。 相似文献
17.
18.
目的考察中西结合护理手段对创伤性截瘫患者术后尿潴留的临床护理效果,为患者提供安全、经济、高效的护理方法。方法收集河北省怀安县人口和计划生育局2008年3月~2012年5月间收治的90名创伤性截瘫患者为研究对象,分为A、B两组。在脊髓休克期与脊髓功能恢复期分别使用不同的中西结合护理手段对创伤性截瘫患者进行护理,治疗一定时间后对护理效果进行考察。结果脊髓休克期内的患者接受间歇导尿与中药利尿饮的护理治疗后,患者经导尿后的尿残余量与护理前相比,有明显下降,泌尿道感染率接近零。A组护理前残余尿量为(336.42±51.21)mL,2、4周后,护理后残余尿量分别为(163.46±39.81)、(336.42±51.21)mL;B组护理前残余尿量为(340.17±47.26)mL,护理后残余尿量分别为(103.24±25.49)、(89.64±31.69)mL,且数据间差异有高度统计学意义(P〈0.01)。脊髓功能恢复期内的A、B两组患者,经过中西结合护理后,2周与1个月后患者自行排尿后尿残余量与护理前相比均有显著下降,A组下降为(103.11±23。57)、(91.83±29.13)mL,B组下降为(103.24±25.49)、(89.64±31.69)mL,且数据间差异有高度统计学意义(P〈0.01),膀胱功能改善的总有效率为100%。结论中西结合的护理手段对创伤性截瘫患者的尿潴留症状具有较好的临床护理效果,且有安全、高效、经济等优点,值得临床推广应用。 相似文献
19.
Elsa J. Aguilera Anne Marie Glenn Wallace J. Lynch Chester J. Molinari Chi H. Nguyen 《The journal of spinal cord medicine》2013,36(1):14-17
AbstractSensation is impaired in the individual with a complete spinal cord injury and it can be compromised in those with incomplete lesions. Quadriplegics and high paraplegics are, therefore, susceptible to environmental temperature changes (partially poikilothermics). Physicians have assumed that SCI persons engaged in winter sports activities are sensitive to exposure hypothermia. To test this premise, participants were examined within five minutes following their arrival from the ski slopes. Sublingual temperature, pulse and respirations were obtained from nine participants. Exposure hypothermia was found in one-third of the selected individuals. We concluded that exposure hypothermia is one of the complications to look for in the winter sports SCI participant, and that cases could be misdiagnosed if physiological knowledge of the SCI person is lacking. 相似文献
20.
Imran Amir Rajesh Sharma William A. Bauman Mark A. Korsten 《The journal of spinal cord medicine》2013,36(1):21-23
AbstractThe efficacies of four bowel care regimens (bisacodyl suppositories, glycerin suppositories, mineral oil enemas and docusate sodium mini-enemas) were compared in seven subjects with traumatic spinal cord injury. Efficacy was assessed in terms of colonic transit time, bowel evacuation time and subjective responses to a questionnaire. Both docusate sodium mini-enemas and mineral oil enemas decreased total and left-sided colonic transit time. However, docusate sodium mini-enemas were superior to mineral oil enemas in terms of the decrease in bowel evacuation time and symptom reduction. Results in this small group of subjects suggest that docusate sodium mini-enemas may have advantages in the management of bowel evacuation in individuals with spinal cord injury. (J Spinal Cord Med 1998;21 -24) 相似文献