0.05). Conclusion Fetal ovary allotransplant can survive in spayed adult female rats, develop and restore the function of secreting sex hormones.

Objective To investigate the clinical efficacy of posterior lumbar interbody fusion and internal fixation for the treatment of lumbar spinal stenosis with redundant nerve roots (RNRs).Methods A retrospective case series study was performed on the clinical data of 23 cases of lumbar spinal stenosis with RNRs from January 2009 to December 2014.This study involved 10 males and 13 females,with an average age of 48.4 years(range,38-58 years).The course of disease averaged 28.1 months(range,2 months-7 years).There were seven patients with single segment of stenosis,12 patients with two segments of stenosis,and four patients with three segments of stenosis.RNRs diagnostic criteria:in the sagittal section of the MRIT2 image of lumbar spine,the cauda equina nerve root in the dural sac was circular,tortuous and twining.MRI information was collected and analyzed by three double-blind radiologists,respectively.RNRs were determined based on the unanimous consent of all the three doctors.All patients underwent posterior discectomy,spinal canal decompression,interbody fusion,and internal fixation after admission.The operation time,intraoperative blood loss,and postoperative complications were recorded.The visual analogue scale (VAS),Oswestry disability index (ODI),and Japanese Orthopedic Association (JOA) score were used to evaluate the back pain and leg pain before operation and 3 months after operation.Fischgrund standard was used for the overall efficacy evaluation.Results All patients were followed up for 12-30 months (mean,23.3 months).The operation time was (130.0 ± 23.2) minutes,and the intraoperative blood loss was (513.0 ± 165.0) ml.MRI was reviewed 1 week after operation,and the result showed that redundancy of cauda equina disappeared.Preoperatively,the scores of back pain VAS,leg pain VAS,ODI and JOA were (6.3± 0.8) points,(6.8 ±0.9)points,(46.7±2.5)points and (10.3 ±2.8)points,respectively.At 3 months postoperatively,the scores were (1.4 ± 0.5) points,(1.8 ± 0.7) points,(11.9 ± 2.1) points,and (25.3 ± 1.8) points,respectively (P ＜ 0.05).In terms of the efficacy,17 cases were excellent,four good,and two fair,with an excellent and good rate of 91％.At 12 months after operation,the CT scan showed no screw rupture or cage dislocation,with bony union seen between the vertebrae.Conclusion Posterior lumbar interbody fusion and internal fixation can help relieve the back and leg pain and eliminate redundant nerve roots in patients with lumbar spinal stenosis with RNRs.

OBJECTIVE: To explore the genetic basis of a pedigree affected with peroneal muscular atrophy. METHODS: Neuroelectrophysiological examination and whole exome sequencing were carried out for the proband, a six-year-and-ten-month-old boy. Suspected variant was verified in his family members through Sanger sequencing. Bioinformatic analysis was carried to predict the conservation of amino acid sequence and impact of the variant on the protein structure and function. RESULTS: Electrophysiological examination showed demyelination and axonal changes of motor and sensory nerve fibers. A heterozygous missense c.1066A>G (p. Thr356Ala) variant was found in exon 11 of the MFN2 gene in the proband and his mother, but not in his sister and father. Bioinformatic analysis using PolyPhen-2 and Mutation Taster software predicted the variant to be pathogenic, and that the sequence of variation site was highly conserved among various species. Based no the American College of Medical Genetics and Genomics standards and guidelines, the c.1066A>G (p. Thr356Ala) variant of MFN2 gene was predicted to be likely pathogenic (PS1+ PM2+ PP3+ PP4). CONCLUSION The heterozygous missense c.1066A>G (p.Thr356Ala) variant of the MFN2 gene probably underlay the disease in the proband, and the results have enabled genetic counseling and prenatal diagnosis for this family.
Charcot-Marie-Tooth Disease/genetics* ; Child ; China ; Drosophila Proteins/genetics* ; Exons ; Female ; Heterozygote ; Humans ; Male ; Membrane Proteins/genetics* ; Mutation ; Pedigree ; Pregnancy ; Whole Exome Sequencing

Objective:To observe the changes of follistatin-like protein 1 (FSTL1) in serum of patients with proliferative diabetic retinopathy (PDR).Methods:Twenty PDR patients confirmed by clinical examination and 20 normal people were included in the study. Human retinal vascular endothelial cells (HRCEC) were divided into HRCEC blank control group, 3 h hypoxia group, 6 h hypoxia group. Human umbilical vein endothelial cell (HUVEC) were divided into HUVEC blank control group, 3h hypoxia group, 6h hypoxia group. Real-time quantitative PCR (RT-PCR) and ELISA were used to determine the expression of FSTL1, TGF-β, VEGF, connective tissue growth factor (CTGF) mRNA and protein in peripheral blood and cells of all groups from all subjects.Results:The expressions of FSTL1, TGF-β1, CTGF, VEGF mRNA in blood samples of patients with PDR were 1.79±0.58, 0.97±0.21, 1.85±0.69 and 1.38±0.44. The expressions of FSTL1, TGF-β1 protein were 1.19±0.50, 0.71±0.24 ng/ml and 734.03±116.45, 649.36±44.23 ng/L. Compared with normal people, the differences were statistically significant ( tmRNA=0.90, 0.21, 2.85, 1.77; P=0.00, 0.00, 0.04, 0.02. tprotein=1.88, 7.68; P=0.00, 0.02). The cell viability of HRCEC cells in the 3 h hypoxia group and the 6 h hypoxia group were 0.66±0.05 and 0.64±0.04, respectively. Compared with the blank control group, the difference was statistically significant ( F=13.02, P=0.00). The cell viability of HUVEC cells in the 3 h hypoxia group and the 6 h hypoxia group were 0.63±0.06 and 0.68±0.06, respectively. Compared with the blank control group, the difference was statistically significant ( F=26.52, P=0.00). Comparison of FSTL1, TGF-β1, CTGF, and VEGF mRNA expression in HRCEC blank control group and 3 h hypoxia group, the differences were statistically significant ( F=14.75, 44.93, 85.54, 6.23; P=0.01, 0.00, 0.00, 0.03). Compared with the HRCEC blank control and 3 h hypoxia group, the expressions of FSTL1 and TGF-β1 protein were statistically significant ( P<0.05). There was a statistically significant difference in TGF-β1 protein expression in the hypoxic 6 h group ( P=0.03) and no significant difference in FSTL1 protein expression ( P=0.68). Comparison of FSTL1, TGF-β1, CTGF, and VEGF mRNA expression in HUVEC blank control group and 3h hypoxia group, the differences were statistically significant ( F=19.08, 25.12, 22.89, 13.07; P=0.00, 0.00, 0.00, 0.01). Immunofluorescence staining results showed that FSTL1, TGF-β1, CTGF, and VEGF proteins were positively expressed in cells in the 3h hypoxia and 6h hypoxia groups. Conclusion:The expression of FSTL1 gene and protein in serum of PDR patients was significantly higher than that of normal people.

Accurate collection and preservation of vitreous and retina-related tissue specimens is the basis for clinical diagnosis and rigorous basic research. The clinical uses of vitreous specimens include microbial culture, cytological detection, detection of degenerative diseases, PCR analysis, and cytological detection of cell morphology. The experimental research uses include DNA gene analysis, protein quantitative analysis, metabolite examination, RNA content quantitative analysis, cytokine determination and so on. Retinal specimens collecting was mainly used for PCR analysis of retinal proliferative membrane, immunohistochemical staining, immunofluorescence examination, microvascular density evaluation, cell isolation and culture, etc. Understanding the collection of vitreoretinal surgical specimens and the application of relevant detection techniques and materials can provide a more comprehensive idea for the diagnosis of vitreoretinal diseases and a broader reference for the related basic research.

Objective:To observe the changes in refractive status of eyes with idiopathic macular hole (IMH) after vitrectomy and phacoemulsification and IOL implantation (combined surgery).Methods:A retrospective clinical study. From January 2016 to June 2019, 51patients (56 eyes) of IMH who underwent combined surgery at the Tianjin Medical University Eye Hospital. were included in the study. Among them, there were 17 males and 34 females with the average age of 66.79±4.33 years. All the affected eyes underwent BCVA, retinoscopy and axial length (AL) measurement. The IOL power was calculated according to the SRK-T formula and the refractive power (predicted value) was predicted. The average BCVA of the affected eye was 0.20±0.13. The average anterior chamber depth was 2.89±0.28 mm. The average △corneal astigmatism was 0.73±0.43 D, the average AL was 22.92±0.70 mm, the average predicted refractive power was 0.10±0.66 D. All the affected eyes underwent standard transciliary flat part three-channel 25G combined surgery. Six months after the operation, the actual value (actual value) of the diopter after the operation was measured with the same equipment and method before the operation. Paired t test was used to compare the difference between the predicted value and the actual value. Results:Six months after the operation, the actual value of the refractive power was -0.19±0.64 D. Compared with the pre-operative refractive power, the difference was not statistically significant ( t=1.665, P=0.102). The difference between the actual value and the predicted value was -0.33± 0.81 D. Conclusions:The refractive status of the IMH eye undergoes myopia drift after combined surgery. The preoperative IOL power budget can be appropriately reserved for +0.3 D hyperopia.