Tethered cord syndrome is a progressive disease with a typically insidious onset in infants and children, and which can lead to persistent progress of neurological deficits and a high rate of disability without timely...Tethered cord syndrome is a progressive disease with a typically insidious onset in infants and children, and which can lead to persistent progress of neurological deficits and a high rate of disability without timely intervention. The purpose of this study was to investigate the curative effect of microsurgery in children with different types of tethered cord syndrome. In this study, we analyzed 326 patients with tethered cord syndrome, aged from 2 months to 14 years old, who were followed for 3-36 months after microscopic surgery. Based on clinical manifestations and imaging findings, these patients were classified into five types： tight ilium terminale （53 cases）, lipomyelome- ningocele （55 cases）, lipomatous malformation （124 cases）, postoperative adhesions （56 cases）, and split cord malformation （38 cases）. All patients underwent microsurgery. Curative effects were measured before and 3 months after surgery by Spina Bifida Neurological Scale based on sensory and motor functions, reflexes, and bladder and bowel function. The results showed that Spina Bifida Neurological Scale scores improved in all five types after surgery. Overall effective rates in these patients were 75%. Effective rates were 91% in tight ilium terminale, 84% in lipomyelomeningocele, 65% in lipomatous malformation, 75% in postoperative adhesion, and 79% in split cord mal- formation. Binary logistic regression analysis revealed that types of tethered cord syndrome （lipoma-type or not） and symptom duration before surgery were independent influencing factors of surgical outcome. These results show that therapeutic effect is markedly different in patients with different types of tethered cord syndrome. Suitable clinical classification for tethered cord syndrome will be helpful in predicting prognosis and guiding treatment. This trial has been registered in the Chinese Clinical Trial Registry （registration number： ChiCTR1800016464）.展开更多
Copy number variations have been found in patients with neural tube abnormalities.In this study,we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children ...Copy number variations have been found in patients with neural tube abnormalities.In this study,we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children with tethered spinal cord syndrome and two healthy parents.Of eight copy number variations,four were non-polymorphic.These non-polymorphic copy number variations were associated with Angelman and Prader-Willi syndromes,and microcephaly.Gene function enrichment analysis revealed that COX8 C,a gene associated with metabolic disorders of the nervous system,was located in the copy number variation region of Patient 1.Our results indicate that array-based comparative genomic hybridization can be used to diagnose tethered spinal cord syndrome.Our results may help determine the pathogenesis of tethered spinal cord syndrome and prevent occurrence of this disease.展开更多
基金supported by the Science Foundation of Military Medical Research and Clinical Research Foundation of PLA General Hospital in China,No.2016FC-CXYY-1006(to AJS)a grant from the Application of Clinical Features of Capital City of Science and Technology Commission in China,No.Z171100001017140(to AJS)
文摘Tethered cord syndrome is a progressive disease with a typically insidious onset in infants and children, and which can lead to persistent progress of neurological deficits and a high rate of disability without timely intervention. The purpose of this study was to investigate the curative effect of microsurgery in children with different types of tethered cord syndrome. In this study, we analyzed 326 patients with tethered cord syndrome, aged from 2 months to 14 years old, who were followed for 3-36 months after microscopic surgery. Based on clinical manifestations and imaging findings, these patients were classified into five types： tight ilium terminale （53 cases）, lipomyelome- ningocele （55 cases）, lipomatous malformation （124 cases）, postoperative adhesions （56 cases）, and split cord malformation （38 cases）. All patients underwent microsurgery. Curative effects were measured before and 3 months after surgery by Spina Bifida Neurological Scale based on sensory and motor functions, reflexes, and bladder and bowel function. The results showed that Spina Bifida Neurological Scale scores improved in all five types after surgery. Overall effective rates in these patients were 75%. Effective rates were 91% in tight ilium terminale, 84% in lipomyelomeningocele, 65% in lipomatous malformation, 75% in postoperative adhesion, and 79% in split cord mal- formation. Binary logistic regression analysis revealed that types of tethered cord syndrome （lipoma-type or not） and symptom duration before surgery were independent influencing factors of surgical outcome. These results show that therapeutic effect is markedly different in patients with different types of tethered cord syndrome. Suitable clinical classification for tethered cord syndrome will be helpful in predicting prognosis and guiding treatment. This trial has been registered in the Chinese Clinical Trial Registry （registration number： ChiCTR1800016464）.
文摘Copy number variations have been found in patients with neural tube abnormalities.In this study,we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children with tethered spinal cord syndrome and two healthy parents.Of eight copy number variations,four were non-polymorphic.These non-polymorphic copy number variations were associated with Angelman and Prader-Willi syndromes,and microcephaly.Gene function enrichment analysis revealed that COX8 C,a gene associated with metabolic disorders of the nervous system,was located in the copy number variation region of Patient 1.Our results indicate that array-based comparative genomic hybridization can be used to diagnose tethered spinal cord syndrome.Our results may help determine the pathogenesis of tethered spinal cord syndrome and prevent occurrence of this disease.
