Objective To report a case of Hutchinson-Gilford progeria syndrome,and to make a molecular genetic diagnosis.Methods Peripheral blood samples were collected from a 12-month-old child with HutchinsonGilford progeria syndrome,his parents,and 150 unrelated healthy controls.DNA was extracted from these samples,and PCR was performed to amplify exon 11 of the LMNA gene and its flanking sequence followed by sequencing.Results The patient presented with scleroderma-like tight skin on the trunk,hair loss and prominent scalp veins for 9 months,whose body height and weight were two standard deviations below the mean.Physical examination showed thin skin and prominent superficial veins over the scalp.The skin over the trunk was tight,hard,shiny and dry with a small number of tiny scales,mottled pigmentation and hypopigmentation,induration and hypertrophy giving a cobblestone-like appearance.The subcutaneous fat was diminished on the lower limbs.Skeletal X-ray examination of the left hand revealed phalangeal acroosteolysis.A known heterozygous mutation c.1824C ＞ T (dbSNP:rs58596362) was detected in the exon 11 of the LMNA gene in the proband,but not in his parents or the 150 unrelated healthy controls.Conclusion The mutation c.1824C ＞T in the LMNA gene may be responsible for Hutchinson-Gilford progeria syndrome in this patient.

Objective To study the protective effect of glucocorticoid preconditioning on the myocardial ischemic and reperfused hearts.Methods Totally 18 rabbits were randomly divided into three groups: myocardial ischemia-reperfusion model(model),high-dose glucocorticoid given by one time group(high-dose group) and low-dose glucocorticoid given by several times group(low-dose group),with six rabbits in each group.Myocardial ischemia was induced by left anterior descending coronary artery ligation.ST segments were recorded by the BL-420 biological signal acquisition system.Plasma malondial dehyde(MDA) was examined before ischemia,at 15 min after ischemia and 30 min after reperfusion;ischemic heart muscles were prepared with cryotomy and stained histochemically.Succinic dehydrogenase activity was observed in the ischemic region.Results There was shorter time of ST-segment recovery in the high-dose group and the low-dose group than that in the model group.Serum level of MDA in the high-dose group was lower than in the low-dose group(P

Objective:To evaluate the guiding value of ultrasound-guided selective nerve root block in the surgical treatment of multilevel lumbar degeneration.Methods:Retrospective case-control study was used. Clinical data of 47 patients with multi-level lumbar degeneration who underwent decompression surgery in Honghui Hospital, Xi′an Jiaotong University from January 2019 to December 2021 were retrospectively analyzed. They were divided into nerve root block group ( n=22)and non-nerve root block group( n=25) according to whether ultrasound-guided selective nerve root block was performed before decompression surgery. The operation time, intraoperative blood loss, number of decompression laminae, postoperative drainage volume and length of stay of the two groups were recorded and compared. The visual analogue scale of low back pain, the visual analogue scale (VAS) of leg pain, the Japanese orthopaedic association (JOA) score and Oswestry disability index (ODI) score were all compared before surgery and during follow-up between the two groups. Measurement data with normal distribution were represented as mean±standard deviation( ± s), and the comparison between groups was conducted using the paired t-test. Chi-square test was used for counting data. Results:All 47 patients successfully completed the operation without any serious complications such as neurovascular injury. All patients were followed up for (27.6±7.5)months. In the nerve root block group, the operation time, intraoperative blood loss, number of decompression laminae, postoperative drainage volume and hospital stay were (90.5±12.6) min, (110.5±15.8) mL, 1.2±0.8, (85.6±15.8) mL, (6.2±2.8) d, respectively. In the non-root block group, they were (190.6±25.5) min, (450.5±24.8) mL, 3.8±1.6, (210.5±16.8) mL, (9.5±2.2) d, respectively. The above indexes in the nerve root closure group were less than those in the non-root closure group, and the difference was significant between the two groups ( P< 0.05). The scores of VAS of low back pain and leg pain, JOA and ODI in both groups were significantly improved after surgery and during the follow-up period when compared with those of pre-operation ( P< 0.05). The VAS scores of low back pain on the 3rd day, 6 months after operation and at the last follow-up in the nerve block group were 3.2±1.4, 1.4±0.8, 0.5±0.2, the JOA scores were 15.8±4.3, 21.3±5.6, 25.6±1.4, and the ODI scores were 50.6±10.3, 22.8±7.8, 16.8±4.2, respectively. The VAS scores of low back pain on the 3rd day, 6 months after operation and at the last follow-up in the non-nerve block group were 5.1±1.8, 3.4±1.2, 1.8±0.5, the JOA scores were 14.1±4.8, 20.5±3.2, 24.2±1.8, and the ODI scores were 60.5±9.8, 31.6±8.2 and 21.3±5.5, respectively. The difference between the two groups was statistically significant ( P<0.05). However, there was no statistical difference in the VAS scores of leg pain between the two groups after surgery and during follow-up ( P>0.05). At the last follow-up, the internal fixation position of the two groups was good, no loosening and displacement, and bone graft fusion was good. Conclusion:For patients with multi-level lumbar degeneration, ultrasound-guided selective nerve root block before surgery can identify the responsible segment, and selective decompression and fusion based on this can effectively reduce surgical trauma, while improving patients′ back and leg pain and physical function, which has important surgical guidance value.

Objective: To determine the value of hyperextension MRI evaluation in determining whether to perform decompression therapy after reduction of reducible atlantoaxial dislocation as well as assess the decompression effect. Methods: A retrospective case series study was conducted to analyze 24 patients with atlantoaxial dislocation admitted to Honghui Hospital affiliated to Xi'an Jiaotong University from May 2015 to May 2017. There were 10 males and 14 females, aged 40-74 years, with an average age of 52 years. There were 14 patients with os odontoideum, four patients with odontoid fracture, and six patients with transverse atlantal ligament rupture. Hyperextension MRI was performed to assess spinal cord compression for all patients. Eight patients with anterior spinal cord compression (Group A) underwent posterior atlantoaxial arch decompression plus atlantoaxial internal fixation reduction and bone graft fusion; 16 patients without anterior compression of the spinal cord (Group B) underwent only atlantoaxial internal fixation reduction and bone graft fusion. Intraoperative and postoperative complications were recorded. Spinal cord compression index and improvement rate of spinal cord decompression were evaluated by routine cervical spine MRI. Japanese Orthopedic Association (JOA) score was used to evaluate the clinical effect. Results: All patients were followed up for 3-24 months, with an average of 9.3 months. There was no nerve or vertebral artery injury during the operation, and no screw loosening occurred after surgery. The spinal cord compression index (0.37±0.18) in Group A at the last follow-up was significantly lower than that before operation (0.73±0.22) (P<0.05), while the index in Group B (0.19±0.20) at the last follow-up was also lower than that before operation (0.61±0.25) (P<0.05). The improvement rate of spinal cord decompression was 67.11% in Group A and 70.61% in Group B. The final JOA score of Group A was (13.29±3.68)points, which was significantly better than the preoperative JOA [(5.61±2.74)points] (P<0.05). The final JOA score in Group B [(14.13±3.45)points] was also significantly better than the preoperative JOA [(7.32±2.90)points] (P<0.05). Improvement rate of JOA was 57.31% in Group A and 59.91% in Group B. Conclusions Hyperextension MRI of cervical vertebra can effectively judge whether the anterior spinal cord is compressed after reduction of atlantoaxial dislocation. It has important clinical significance for decompression treatment during reduction and internal fixation of reducible atlantoaxial dislocation. At the same time, posterior atlantoaxial arch resection and decompression can effectively relieve the compression of the spinal cord after reduction of atlantoaxial dislocation.