1.Clinical research of thoracolumbar fractures treated with unilateral pedi-cle screw fixation
Caijiang SHAO ; Feng CAI ; Yechao SUN ; Yunmiao MA ; Zhoufeng SONG
China Modern Doctor 2015;(3):59-61,161
Objective To evaluate the feasibility and clinical therapeutic effect of unilateral pedicle screw fixation in treatment of thoracolumbar fractures. Methods From January 2008 to December 2012, 62 patients with thoracolumbar fractures were treated with unilateral pedicle screw fixation. X-ray were underwent after 3 to 5 days, 3 months, 6 months, 12 months respectively, observed vertebral fracture healing and compared the Cobb angle, vertebral front and rear edge height situation before and after surgery, sagittal last follow-up. Results All patients were followed up from 6~35 months with an average of 18 months. No internal fixation failure was found. The Cobb’angle, anterior and poste-rior vertebral body height before operation were(25.7±4.1)°, (49.6±1.8)%, (93.2±1.8)%, which by preoperative correction back to (9.2±1.5)°, (87.6±2.4)%, (97.2±1.9)% at last follow up. The kyphosis correction rate was (94.5±2.7)% and the correction loss rate was (2.3±0.7)%. Spinal cord function were improved level 1~3 (excepted 4 cases of patients with grade A and 2 cases with grade B). Conclusion The method of using unilateral pedicle screw fixation can strengthen the injured vertebra fixed strength and stability, and maintain the kyphosis deformity correction.
2.Analysis of screening results for genetic metabolic diseases among 352 449 newborns from Changsha
Xia LI ; Ling HE ; Yuting SUN ; Xuzhen HUANG ; Yechao LUO ; Yujiao LI ; Shihao ZHOU ; Yudong ZENG ; Jun HE
Chinese Journal of Medical Genetics 2023;40(9):1075-1085
Objective:To retrospectively analyze the screening results for genetic metabolic diseases among newborns from Changsha in order to determine the prevalence of single diseases and their mutational spectrum.Methods:352 449 neonates born from January 2016 to December 2021 in Changsha were subjected to tandem mass spectrometry. Suspected cases were further analyzed by biochemical and genetic testing.Results:Among the 352 449 newborns, 6 170 were positive for the screening, which yielded a positive rate of 1.75%. 5 437 cases were recalled, and 92 were confirmed, with the overall prevalence being 1∶3 831 and positive predictive value of 1.69%. Eighteen genetic metabolic diseases were detected among the 92 children, including 33 amino acid metabolic disorder, among which 20 were phenylalanine hydroxylase deficiency (60.60%). 17 cases had organic acid metabolic disorders, among which 4 were 2-methyl-dehydrogenase deficiency (23.50%). 42 had fatty acid metabolic disorders, among which 27 (64.30%) were primary carnitine deficiency and 12 were short-chain acyl-CoA dehydrogenase deficiency (28.60%). In total 90 genetic variants were identified, with the most common ones including c. 51C>G, c. 1400C>G, c. 760C>T, c. 1031A>G and c. 1165A>G.Conclusion:The common neonatal genetic metabolic diseases in Changsha include primary carnitine deficiency, phenylalanine hydroxylase deficiency and short-chain acyl-CoA dehydrogenase deficiency. The preliminary delineation of mutational spectrum for genetic metabolic diseases in Changsha can facilitate early diagnosis and intervention, so as to improve the quality of newborn population.