Objective: To identify potential variant in a child diagnosed as infantile neuroaxonal dystrophy. Methods: Genomic DNA was extracted from peripheral blood samples from the patient and his parents and subjected to next generation sequencing. Suspected variant was verified by PCR and Sanger sequencing. Pathogenicity of the mutation was predicted by using bioinformatic software including SIFT and PolyPhen-2. Results: The child was found to carry compound heterozygous variations c. 668C>A (p.Pro223Gln) and c. 2266C>T (p.Gln756Ter) of the PLA2G6 gene, which were respectively inherited from his father and mother. c. 2266C>T has changed codon 756 (glutamine) into a stop codon, resulting premature termination of peptide chain synthesis. c. 2266C>T has not been reported previously and was predicted to be harmful. Conclusion The compound variants of c. 668C>A (p.Pro223Gln) and c. 2266C>T (p.Gln756Ter) of the PLA2G6 gene probably underlies the disease in the child. Above finding has enriched the variant spectrum of the PLA2G6 gene.

In the present study, the performance of the liquid nitrogen frozen and thinned bovine pericardium was studied and compared with the porcine pericardium. The microstructure and mechanical properties of the bovine pericardium were observed and tested by hematoxylin-eosin (HE) staining and tensile test respectively. In all conditions, porcine pericardium was selected as a control group. The results showed that there was little difference in the performance of bovine pericardium after being frozen by liquid nitrogen. The secant modulus and ultimate strength of the thinned bovine pericardium were similar to those of porcine pericardium, however, the elastic modulus was a little higher than porcine pericardium. The study suggested that the performance of the thinned bovine pericardium was similar to those of porcine pericardium. It was easy for the thinned bovine pericardium to obtain a relatively ideal thickness and expected performance, therefore, the thinned bovine pericardium can be used as the materials of transcatheter aortic valve leaflets.
Animals ; Aortic Valve ; Bioprosthesis ; Cattle ; Elastic Modulus ; Freezing ; Heart Valve Prosthesis ; Nitrogen ; Pericardium ; physiology ; Swine

Objective: To investigate the correlation between the expression of E2F1 and growth arrest and DNA damage inducible protein 45g (GADD45g) in patients with acute myeloid leukemia (AML), and to explore whether GADD45g exerts its induction of DNA damage, cell apoptosis, senescence, cell cycle arrest and drug sensitivity in AML through inhibition of E2F1. Methods: A total of 32 cases of bone marrow specimens from patients initially diagnosed asAML in Hospital of Blood DiseasesAffiliated to ChineseAcademy of Medical Sciences from January 2013 to December 2016, were selected for this study; In addition, AML cell lines (U937, HL60, THP-1, Molm-13) were also collected for this study. The mRNAexpression of GADD45g and E2F1 in above mentioned specimens and cell lines by qPCR,andtheircorrelationwasalsoanalyzed.Thelentiviral vector over-expressing E2F1 (pLV-E2F1-RFP) was constructed to prepare recombinant lentivirus, which was then transfected Molm-13 and THP-1 cells that over-expressing GADD45g. Whether GADD45g exerts tumor inhibition effect on AML cells through inhibition of E2F1 was determined by comet assay, Annexin V/7AAD flow cytometry, β-galactosidase staining and PI staining flow cytometry etc. Results: The mRNA expression of GADD45g was negatively correlated with E2F1 in bone marrow of AML patients and AML cell lines (r=–0.663, P<0.01). Over-expression of GADD45g significantly inhibited the expression of E2F1 in AML cell lines (all P<0.01). Molm-13 and THP-1 cells that simultaneously over-expressing GADD45g and E2F1 were successfully constructed. Compared with the control group, the protein expressions of GADD45g and E2F1 in over-expression groups were significantly increased (all P<0.01). Compared with cells over-expressing GADD45g alone, simultaneous over-expression of both GADD45g and E2F1 significantly reduced the apoptosis, senescence and DNA damage (all P< 0.01), and rescued cell cycle arrest in Molm-13 and THP-1 cells (all P<0.01), thus further reduced the chemo-sensitivity of AML cells caused by GADD45g over-expression (all P<0.01). Conclusion: GADD45g exerts anti-tumor effect inAMLvia inhibition of E2F1.

Objective: To analyze variations of TYR and P genes among 14 patients with clinically diagnosed oculocutaneous albinism. Methods: Potential variations of the TYR and P genes were detected by Sanger sequencing. Novel variations were predicted with bioinformatics software including SIFT and PolyPhen-2. Results: No variation was found in the TYR gene, while 9 types of variations were found in the P gene among the 14 patients, which included c. 803-3C>G (7/26), c. 1327G>A (p.Val443Ile) (5/26), c. 632C>T (p.Pro211Leu) (4/26), c. 1832T>C (p.Leu611Pro) (3/26), c. 1349C>A (p.Thr450Lys) (2/26), c. 2363C>T (p.Ser788Leu) (2/26), c. 2228C>T (p.Pro743Leu) (1/26), c. 1525A>G(p.Thr509Ala) (1/26), and c. 1349C>T(p.Thr450Met) (1/26). Only 1 heterozygous variation was detected in 2 families. c. 2363C>T (p.Ser788Leu), c. 1832T>C (p.Leu611Pro) and c. 1525A>G (p.Thr509Ala) were not reported previously and predicted as "harmful" to the protein function. Conclusion The main type of ocular albinism is oculocutaneous albinism type Ⅱ in Liuzhou region, where the most common variations of the P gene were c. 803-3C>G and c. 1327G>A (p.Val443Ile). Above finding has enriched the variation spectrum of the P gene.

Objective To investigate the mechanical behavior of bovine pericardium with different orientations after compression and evaluate its effects on the duration of transcatheter aortic valve. Methods According to the fiber directions, the pericardial strips were divided into 12 groups of transverse, longitudinal and oblique pericardial strips, and each group included 3 strips of pericardium. One strip maintained the original state, and the other two strips were under 12.5 N and 25 N compression, respectively for 1 h. The mechanical properties of compressed samples were tested and analyzed subsequently in uniaxial tension test. Results The samples with different orientations showed obvious anisotropy before and after compression. The secant modulus, elastic modulus and ultimate tensile strength of the longitudinal pericardium were generally greater than those of the oblique pericardium, while the oblique pericardium was larger than the transverse pericardium. For longitudinal and oblique bovine pericardium under 25 N compression, the average tensile strength ratio was 0.92 and 0.87, respectively, and the ratio of tensile strength before and after compression had a significant difference (P＜0.05). The average tensile strength ratio of transverse bovine pericardium after 25 N compression was 0.97, and there was no significant difference in the ratio of tensile strength before and after compression (P＞0.05). Conclusions The compressive damage of the pericardia with different fiber orientations was very small under low stresses at transitory time. For design and production of transcatheter aortic valves, the orientations of the pericardium and the changes of strength after compression should be taken into consideration.

Objective To investigate the effect of the different rehabilitation training method on the first ray of postoperative hallux valgus (HV). Methods Based on medical images of HV patient, a comprehensive three-dimensional finite element model of HV foot was established, including bones, sesamoid, cartilage, ligaments, soft tissues, Achilles tendon. The passive/active plantar flexion and dorsal flexion as well as standing were simulated to investigate the biomechanical behavior of distal osteotomy fragment of the postoperative HV. Results The stress distribution on distal osteotomy fragment during passive training was more uniform, and the peak stress (7.78 MPa) was greater than that during stance phase and active training. The distal osteotomy fragment displacement during passive training (0.98 mm) in anterior-posterior direction was greater than that during stance phase (0.69 mm) and active training (0.38 mm). Conclusions The passive training could promote the contact of osteotomy surface and reduce the healing time of osteotomy, which would be beneficial for rehabilitation of postoperative HV.

BACKGROUND:Integrated Traditional Chinese and Western Medicine minimaly invasive treatment for halux valgus based on wrapped curtain method with “8”-shaped bandage and sub toe pad external fixation has been used for a long time in the clinic. This method abandons the internal implant fixationandexternal plaster fixation. After surgery, patients could take care of themselves. However, theactivity of the broken end may cause fracture nonunion, which once aroused scholars’ question. Recently, with the continuous improvement of foot biomechanics research, foot finite element model and applications become a reality.
OBJECTIVE:To evaluate thestability of osteotomy after the operation of wrapped curtain method with“8”-shaped bandage and sub toe pad external fixation on the basis of static finite element method.
METHODS:A young female volunteer with halux valgus was selected, whose body weight was 58 kg, and right foot halux abductor valgus angle was 24°; intermetatarsal angle was 13°; proximal articulator set angle was 7°; distal articulator set angle was 7°. CT was used to scan the right foot. ABAQUS software was applied to establish a finite element model of right foot halux valgus bone, and model of the first metatarsal neck minimaly invasive osteotomy was simulated based on wrapped curtain method with external fixation. Von Mises stress and displacement at the osteotomy endwere calculated.
RESULTS AND CONCLUSION:(1) The maximum stress was 0.067 MPa without external fixation, and the maximum stress was 1.258 MPa with the external fixation. Stress was mainly distributed in the outer edge of the osteotomy. (2) The maximum absolute displacement was 0.363 mm without external fixation, and the maximum absolute displacement was 0.716 mm with external fixation. The two largest displacements were both in the Z-axis direction. Statistical analysis confirmed that the four nodes absolute displacement and stress were significantly different (P< 0.01). (3) The maximum relative displacement was 0.101 mm. The maximum relative displacement was 0.046 mm with external fixation. The maximum relative displacement without external fixation was-0.102 mm and occurred in the Z-axis. The maximum relative displacement with external fixation was 0.110 mm and occurred in the Y-axis. (4) One-way analysis of variance confirmed that the four nodes relative displacements were not statisticaly significant in X-axisand Y-axis (P> 0.05). The four nodes relative displacements were statisticaly significant in Z-axis (P< 0.05). (5) These findings suggest that the external fixation based on wrapped curtain method after halux valgus surgery could effectively reduce osteotomy displacement. The moderate stress and elastic fixation are conducive to fracture healing.