个体化护理干预对颈椎骨折伴高位截瘫患者压疮预防管理的影响

目的探讨个体化护理干预对颈椎骨折伴高位截瘫患者压疮预防的作用。方法将84例颈椎骨折伴高位截瘫患者随机分成观察组和对照组,每组各42例。对照组给予常规压疮护理,观察组在常规护理基础上以整体护理模式为理论框架,采用"Barden压疮风险评估表"进行评估,并对评分结果给予个体化针对性护理干预。出院前评价两组患者压疮发生情况。结果对照组42例患者中发生压疮8例,压疮发生率为19%,观察组发生压疮2例,压疮发生率为4.8%,差异有统计学意义(x~2=4.725,P0.05)。结论个体化护理干预能有效降低颈椎骨折伴高位截瘫患者的压疮发生,改善患者生活质量。     

From the Cover: Loss of phosphatidylinositol 4-kinase 2α activity causes late onset degeneration of spinal cord axons

Phosphoinositide (PI) lipids are intracellular membrane signaling intermediates and effectors produced by localized PI kinase and phosphatase activities. Although many signaling roles of PI kinases have been identified in cultured cell lines, transgenic animal studies have produced unexpected insight into the in vivo functions of specific PI 3- and 5-kinases, but no mammalian PI 4-kinase (PI4K) knockout has previously been reported. Prior studies using cultured cells implicated the PI4K2α isozyme in diverse functions, including receptor signaling, ion channel regulation, endosomal trafficking, and regulated secretion. We now show that despite these important functions, mice lacking PI4K2α kinase activity initially appear normal. However, adult Pi4k2a^GT/GT animals develop a progressive neurological disease characterized by tremor, limb weakness, urinary incontinence, and premature mortality. Histological analysis of aged Pi4k2a^GT/GT animals revealed lipofuscin-like deposition and gliosis in the cerebellum, and loss of Purkinje cells. Peripheral nerves are essentially normal, but massive axonal degeneration was found in the spinal cord in both ascending and descending tracts. These results reveal a previously undescribed role for aberrant PI signaling in neurological disease that resembles autosomal recessive hereditary spastic paraplegia.     

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA). The same mutation was subsequently also found in a Brazilian family with features of NBIA, and we identified another NBIA patient with a three‐nucleotide deletion (c.197_199del; p.Gly66del). Haplotype analysis revealed that the p.Ala63Pro mutations have a common origin, but MRI scans showed no brain iron deposition in the Malian SPG43 subjects. Heterologous expression of these SPG43 and NBIA variants resulted in similar alterations in the subcellular distribution of C19orf12. The SPG43 and NBIA variants reported here as well as the most common C19orf12 missense mutation reported in NBIA patients are found within a highly conserved, extended hydrophobic domain in C19orf12, underscoring the functional importance of this domain.     

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

Hereditary spastic paraplegias constitute a heterogeneous group of neurodegenerative diseases encompassing pure and complicated forms, for which at least 52 loci and 31 causative genes have been identified. Although mutations in the SPAST gene explain approximately 40% of the pure autosomal dominant forms, molecular diagnosis can be challenging for the sporadic and recessive forms, which are often complicated and clinically overlap with a broad number of movement disorders. The validity of exome sequencing as a routine diagnostic approach in the movement disorder clinic needs to be assessed. The main goal of this study was to explore the usefulness of an exome analysis for the diagnosis of a complicated form of spastic paraplegia. Whole‐exome sequencing was performed in two Spanish siblings with a neurodegenerative syndrome including upper and lower motor neuron, ocular and cerebellar signs. Exome sequencing revealed that both patients carry a novel homozygous nonsense mutation in exon 15 of the SPG11 gene (c.2678G>A; p.W893X), which was not found in 584 Spanish control chromosomes. After many years of follow‐up and multiple time‐consuming genetic testing, we were able to diagnose these patients by making use of whole‐exome sequencing, showing that this is a cost‐efficient diagnostic tool for the movement disorder specialist.     

Strumpell's Disease in a Family with Hereditary Focal Segmental Glomerulosclerosis

Strumpell's familial spastic paraplegia is a rare hereditary disease, clinically characterized by progressive disturbance of gait. Focal Segmental Glomerulosclerosis (FSGS) is a frequent glomerulopathy, with an extremely rare familial subtype. The cases of two brothers with Strumpell's disease are reported, who also developed glomerular renal disease, most probably familial FSGS. The genetics of the two disorders, Strumpell's paraplegia and familial FSGS, are discussed, together with the possibility of a parallel transmission.     

脐带间充质干细胞在遗传性痉挛性截瘫中的应用

目的观察脐带间充质干细胞（UC-MSC）治疗遗传性痉挛性截瘫（HSP）的临床疗效及安全性。方法2010年9月及2011年4月,分别给予一HSP家系父子2人行UC-MSC鞘内注射治疗,两个疗程,每次1×106 cells/Kg,每周1次,4次为1个疗程。采用改良的Ashworth肌张力分级标准（MAS）、国际合作共济失调评分量表（ICARS）及日常生活量表（ADL）,对患者治疗前后神经功能、日常生活能力进行评定。结果第一疗程结束1个月与治疗前比较,2人MAS分级、ICARS及ADL评分均降低,两人行走站立稳定性及言语流利程度较治疗前改善;第二疗程结束后1个月与该疗程治疗前比较,2人ICARS及ADL评分降低,儿子肌张力进一步降低,父亲双上肢共济失调减轻。2人治疗后均未见明显不良反应发生。末次治疗结束后随访20个月,父、子俩分别于第二疗程治疗结束7个月及8个月后,症状继续加重。结论 UC-MSC鞘内注射治疗是安全的,可在一定时间内一定程度上减轻患者临床症状,提高患者生活质量,延缓疾病进展,但疗效不能持久。     

Evidence for an Exaggerated Postprandial Lipemia in Chronic Paraplegia

Abstract

Background/Objective: Excessive delay in triglyceride (TG) metabolism after ingestion of dietary fatrepresents a significant cardiovascular disease (CVD) risk. The objective of this study was to compare thepostprandial lipemic responses of individuals with paraplegia with those of healthy nondisabled individuals.

Methods: The ability of 3 recreationally active individuals with paraplegia having normal fasting TG(mean= 103 mg/dl) to metabolize TG after ingestion of a high-fat test meal was compared with apreviously published cohort of 21 recreationally active individuals without paraplegia (TG mean= 86 mg/dl)who underwent identical testing. The subjects with paraplegia had venous blood taken under fastingconditions, and then ingested a milkshake containing premium ice cream blended with heavy whippingcream(~ 92% of calories from fat). Additional blood samples were obtained at 2, 4, and 6 hours afteringestion. The area under the curve (AUC) for TG clearance for both subject groups was measured with anarea planimeter.

Results: TG uptake for both groups was almost identical for the first 2 hours after ingestion. At 4 and 6 hoursafter ingestion, the TG levels were 50 and 35 mg/dl higher, respectively, in subjects with paraplegia than innondisabled subjects. When corrected for small baseline differences in TG concentrations (16 mg/dl), theAUC was 46.5% greater for the group with paraplegia than in the nondisabled group. A near mirrorassociation across time was observed between postprandial serum high-density lipoprotein cholesterol(HDL-C) and TG levels in subjects with paraplegia.

Conclusion: This case series finds an exaggerated postprandial lipemia (PPL) in persons with paraplegiawith normal fasting TGs. This finding is the first evidence, in a small population, of an unreported potentialCVD risk in persons with paraplegia.     

Surgical Treatment of Tracheal Hamartoma

Tracheal hamartoma is a rare tumor and difficult to diagnose. A case is presented in which tracheal hamartoma was misdiagnosed and treated for four years as asthma. The tumor was curatively excised via posterolateral thoracotomy.