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991.
Phillip F. Chance 《Neuromolecular medicine》2006,8(1-2):159-173
Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant
disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence,
and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment
neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically
affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of
HNPP patients include segmental demyelination and tomaculous or “sausage-like” formations. Mild overlap of clinical features
with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and
CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite
distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical
region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural
nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary
neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes
of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain,
paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis
for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s).
Episodes are often triggered by infections, immunizations, the puerperium, and stress. Electrophysiological studies show normal
or mildly prolonged motor nerve conduction velocities distal to the affected brachial plexus. Pathological studies have found
axonal degeneration in nerves examined distal to the plexus abnormality. In some HNA pedigrees there are characteristic facial
features, including hypotelorism. The prognosis for recovery of normal function of affected limbs in HNA is good, although
recurrent episodes may cause residual deficits. HNA is genetically linked to chromosome 17q25, where mutations in the septin-9 (SEPT9) gene have been found. 相似文献
992.
Neurological Sciences - Spasticity arises from lesions involving the corticoreticulospinal system in the brain, brainstem or spinal cord. Abnormal suprasegmental influences lead to increased spinal... 相似文献
993.
Abstract Chorea is a rare complication of polycythaemia vera. Polycythaemic chorea occurs predominantly in females and usually in generalised
form. We present a 66-year-old woman with acute onset hemichorea-ballism with no vascular pathology in the basal ganglia region.
A clear relationship was observed between the onset of chorea and worsening of haematological parameters in the patient. After
repeated phlebotomies the patient's clinical status was improved. Polycythaemic chorea must be considered, especially in the
elderly, as early diagnosis leads to effective treatment and prevention of complications. 相似文献
994.
995.
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997.
Timothy Fountaine Christopher R P Lind Andrew J J Law 《Journal of clinical neuroscience》2006,13(4):497-501
A 72-year-old man presented with a short duration of symptoms relating to a right fronto-parietal glioblastoma and a family history of children with brain tumours. Analysis of the patient's family tree revealed that out of seven children, he had a living son with anaplastic astrocytoma, a daughter who had died with a glioblastoma, and a son who had died with a histologically undiagnosed intrinsic brain tumour. One niece was also thought to have died from a brain tumour. All of the other affected family members had onset in their third or fourth decades. Tissue was only available from two of the affected individuals, precluding familial genetic analysis at this stage. There is no clinical evidence to support a diagnosis of a multiple cancer or neurocutaneous syndrome in this family. In view of what is known about the genetics of familial glioma, it is interesting to note the clinical evidence of both 'primary' glioblastoma and anaplastic astrocytoma in the same kindred. 相似文献
998.
Robert J. Baumann MD 《Pediatric neurology》2006,35(6):448-449
999.
快速供肝切取与修整的外科技巧 总被引:12,自引:2,他引:10
目的总结肝脏移植供肝的快速切取和修整经验。方法分析2004年共186例快速供肝的切取和修整的资料。快速切取技术采用原位腹主动脉、肠系膜上静脉灌注附加下腔静脉引流,快速切取供肝,4℃UW液中保存和修整肝脏。结果供肝热缺血时间为3~10min,平均4.5min;冷缺血时间平均为3-16h,平均7h。供肝的修整时间为26~90min,平均46min。供肝修整时发现肝动脉解剖变异20例。结论快速供肝切取法要求术者技术娴熟、动作迅速和准确,可最大限度地减少供肝热缺血时间。快速切取法能保证供肝的质量和确保供肝切取的成功。 相似文献
1000.
透明质酸钠对大鼠成肌细胞增殖和分化的影响 总被引:3,自引:2,他引:1
目的 研究透明质酸钠对成肌细胞增殖和分化的影响。方法 采用酶消化法将新生SD大鼠骨骼肌组织分离、纯化、原代培养及传代培养;取第3代成肌细胞,分别加入浓度为0.05%、0.1%及0.2%的透明质酸钠溶液作为生长培养基行体外培养为实验A、B及C组,加入常规生长培养基为对照D组,观察各组成肌细胞增殖情况,并采用细胞计数及MTT法绘制生长曲线。另选择0.1%透明质酸钠融合培养基行体外成肌细胞培养,常规融合培养基作对照,观察透明质酸钠对成肌细胞分化功能的影响。结果A、B及C组成肌细胞增殖表现相似,2d时进入对数生长期,4d时均达顶峰;D组成肌细胞于3d时进入对数生长期,5d时细胞数倍增,6d时达顶峰。MTT法所测吸光度(A)值的变化反映成肌细胞的增殖情况,与细胞计数的结果一致,以B组细胞增殖作用最明显,B组A值在2~8d时均高于C、D组(P〈0.05),8d时高于A组(P〈0.05)。0.1%透明质酸钠融合培养基中的成肌细胞融合率较低且上升缓慢,7d时融合率最高,为11.7%;常规融合培养基成肌细胞融合率于6d时达到峰值,约为35.0%。结论 透明质酸钠与成肌细胞的细胞相容性较好,可以作为良好的成肌细胞培养基。 相似文献