OBJECTIVE: To establish the quality standard of Lithocarpus polystachys.METHODS: TLC was used for the qualitative identification of L.polystachys.The content of total flavonoids of L.polystachys was determined by UV spectrophotometry and the content of phloridzin was determined by HPLC.RESULTS: The TLC spots of polyamide were clear and well separated.The maximum absorption wavelength of phlorizin was 284 nm.The content of total flavonoids of 6 batches of L.polystachys ranged from 103.12 mg?g-1 to 183.54 mg?g-1.The linear ranges of phlorizin were 0.099 8～1.197 6 ?g (r=0.999 7) with an average recovery of 97.23%(RSD=1.57%,n=6).CONCLUSION: Established quality standard is applicable for the quality control of L.polystachys.

Objective To compare the curative effect and biomechanical performance of cannulated compression screw (CCS) and dynamic hip screw-blade (DHS-B) in the treatment of patients with femoral neck fracture.Methods Between February 2010 and February 2014,102 patients with femoral neck fracture were treated with CCS or DHS-B at our department.They were 54 males and 48 females,aged from 15 to 86 years.There were 30 subcapital fractures,51 transcervical ones and 21 base ones.CCS was used in 60 patients and DHS-B in 42.In-hospital data were collected retrospectively to compare the curative effects in 2 groups.Furthermore,femoral neck fracture models were established using 12 adult cadaveric femoral specimens.The 12 models were randomized into 2 equal groups (n =6).Group A was subjected to fixation by 3 CCSs and group B to fixation by DHS-B.The 2 groups were compared in terms of axial loading test,rotation test and destructive axial loading test.Results The operation time (59.4 ± 20.2 min),incision size (4.1 ±0.6 cm) and intraoperative blood loss (25.9 ±9.9 mL) in the CCS group were significantly less than those in the DHS-B group (88.6±22.9 min,12.1 ±1.2cmand 156.7±107.1 mL) (P ＜0.05).The Harris hip score for the DHS-B group (91.9±9.8) was significantly higher than that for the CCS group (87.2 ± 9.2) (P ＜ 0.05).There were no significant differences between the 2 groups in hospital stay,partial weight-bearing time,or postoperative complications (P ＞ 0.05).At 500 N vertical loading,the stress values at both medial and lateral sides of the femur in group A were significantly smaller than those in group B (P ＜ 0.05).There were no significant differences between groups A and B in the average sinking displacement of femoral head or the torque at a torsion angle of 6° (P ＞ 0.05).The maximum load in group A (2,135 ±120 N) was significantly smaller than that in group B (2,986 ± 98 N) (P ＜ 0.05).Conclusion In treatment of femoral neck fracture,DHS-B fixation is obviously superior to CCS fixation,because the former is in better agreement with the femoral biomechanical property,and performs better in anti-rotation and anti-compression,leading to better functional recovery of the affected hip.

Objective: To investigate the clinical and laboratory features of three children with late-onset type Ⅱ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability. Method: Three cases of children with muscle weakness were included in this study.GAA activity was analyzed in Dried Blood Spot of the patients.DNA was extracted from peripheral blood in all the patients and their parents and subjected to polymerase chain reaction and directly sequencing of GAA gene.Five mutant pcDNA3.1-myc-his-GAA expression plasmids(p.G478R, p.P361L, p.P266S, p.Q323X, p.R672Q) were constructed and transient instantaneously transfected into 293T cells to analyze the enzyme activity and stability of GAA. Result: All the three children had the onset of disease at 3 years or 1.5 years of age.They presented with developmental delay, muscle weakness and hypertrophic cardiomyopathy.GAA activity of 3 patients was 2.65, 3.55 and 1.51 pmol(punch·h)(8.00-98.02)respectively. Genetic analysis found 5 mutations (p.G478R, p. P361L, p. P266S, p. Q323X, p. R672Q), and all of these 3 cases had clinical manifestations and were diagnosed as late-onset type Ⅱ glycogen storage disease.Five mutant pcDNA3.1-myc-his-GAA expression plasmids were transfected into 293T cells.Five mutant enzyme activities were found to be only 9.9%-22.5% of the wild-type enzyme activity and the protein expression of the five mutants was 32.0%-63.9% compared with the wild type. Conclusion This study reports 3 children with late-onset GSD Ⅱ accompanied by hypertrophic cardiomyopathy and compensatory stage of cardiac function in addition to limb muscle weakness.Five pathogenic mutations were identified, and these 5 mutations result in decreased GAA activity and GAA expression by in vitro functional analysis.

OBJECTIVETo determine the genetic etiology and clinical characteristics of 2 boys featuring development delay (DD).

METHODSRoutine chromosomal banding was performed to analyze the karyotypes of the patients and their parents. Single nucleotide polymorphism array (SNP array) analysis was employed to identify pathogenic deletion/duplication of chromosomes, and quantitative real-time PCR (qPCR) was performed to confirm the results.

RESULTSPatient 1 showed a global developmental delay, especially impaired language development, seizures, behavioral problems belonging to the autism spectrum and mild facial dysmorphism. Patient 2 mainly presented with severely delayed speech and moderate intellectual disability, but did not have obvious facial dysmorphism and autistic-like behavior. The diagnosis of 22q13 syndrome was established based on identification of a heterozygous microdeletion at chromosome 22q13.33 in both patients (69 kb and 587 kb, respectively) by the SNP array analysis. Both patients had deletions of SHANK3 and ACR, which are located at the end of 22q. Quantitative real-time PCR verified that the deletion of SHANK3 gene in both patients were de novo in origin.

CONCLUSIONTwo cases of 22q13 deletion syndrome have been diagnosed by SNP array analysis. Deletion of SHANK3 gene may be the major contributor to the clinical manifestations of the patients. SNP array analysis can facilitate discovery of microdeletions, which has played an important role in the diagnosis and genetic counseling for the family.