Copy Number Variants Analysis And Clinical Effectiveness In Patients With Lipoma Tethered Cord Syndrome

Part I Analysis of Copy Number Variants in Gene of Patients with Lipoma Tethered Cord SyndromeObjective:To explore the abnormality of chromosomes of patients with lipoma tethered cord syndrome and the probable association between CNVs and lipoma tethered cord syndrome. Methods:With help of the Agilent SurePrint G3 Human CGH 8x60K Microarray Kit, we performed genome-wide screening for CNVs on 11 patients with lipoma tethered cord syndrome adopted by the Neurosurgery Department of Chinese PLA General Hospital and their healthy parents. We analyze CNVs got by the kit against the gene databases. Unrelated confirmed polymorphisms contained in Database of Genomic Variants (DGV) were discarded. Database of Chromosomal Imbalance and Phenotype in Humans using Ensemble Resources (DECIPHER) helps us with similarity inquiry, and UCSC Genome Browser helps in identification of non-polymorphic CNVs. Biological process, cellular component and molecular function enrichment of these genes were done to confirm the association between the CNVs and lipoma tethered cord syndrome. Results:17 CNVs were discovered by aCGH in 11 patients. Chr8:39258894-39386158 and Chrl5:20481702-22509254 get a high frequency of 45.45% (5/11). Angelman syndrome and Prader-Wolli syndrome were found to be associated with the CNVs of Chr15. Gene function enrichment analysis revealed that ADAM5P and ADAM3A contained in CNVs obtained from patients with lipoma tethered cord syndrome is also associated with orofacial clefts. Conclusions:CNVs we found in Chr8 and Chr15 get a higher frequency than common human. It revealed that there is probable association between these two pieces of CNVs and lipoma tethered cord syndrome.Part II Surgical treatment and Clinical Effectiveness in Patients with Lipoma Tethered Cord SyndromeObjective:To explore the surgical treatment technology and analyze the surgical curative effect of tethered cord syndrome of lipomatous type. Methods:253 patients with lipoma tethered spinal cord syndrome adopted in department of neurosurgery, PLA General Hospital from February 2010 to September 2015 were included. All patients were treated by microsurgical operation assisted with cavitron ultrasonic surgical aspirator under the electrophysiological monitoring. Surgical technology and experience was introduced. By more than 3 months’ followed up, the prognosis of patients with variety of preoperative symptoms was analyzed. Results:238 patients were followed up effectively, with a follow-up rate of 94.07%. All patients were followed up for 3 to 70 months (mean 35.23 months), the prognosis of symptoms is divided into five grades of recovery, improvement, stability, degradation, and newly occurrence. The results indicate that the relief of pain by surgical treatment is the most effective with an efficiency of 73.91%. Then followed by refractory ulcers of lower limbs and perineum with an efficiency of 66.67%. Efficiency of stool symptoms, urine abnormalities, muscle strength of extremity limbs and sensory abnormalities of limbs followed behind orderly. For muscle atrophy and deformities of lower limbs, though no significant improvement was obtained after surgery, the existing symptoms were maintained without deterioration. Conclusion:Surgical treatment for lipoma tethered spinal cord syndrome aims at preventing degradation of existing symptoms. Children patients get better curative effect than adult do, especially in improving of stool and urine symptoms. For adults with symptoms of pain, skin ulcer and defecate disorder or aggravating trend in existing symptoms, surgical treatment still has a high value. Conservative treatment can be taken by adults with pure, stable and progression-free muscle atrophy and deformities of lower limb.