Establishing and evaluating an auto-verification system of thalassemia gene detection results.

The manual verification of gene tests is time-consuming and error prone. In this study, we try to explore a high-efficiency, clinically useful auto-verification system for gene detection of thalassemia. A series of verification elements were rooted in the auto-verification system. Consistency check was applied initially as one of the essential elements in our study. One hundred twenty-four archived cases were used to choose the consistency-check rules' indices from routine blood examination and hemoglobin electrophoresis by the receiver operating characteristic curves. Rule 1 and rule 2 established by the chosen indices were compared by their passing rate, consistency with manual validation, and error rate. Finally, 748 cases were used for verifying the system's feasibility by evaluating the passing rate, turn-around time (TAT), and error rate. The rule 2 had a higher passing rate (67.7% vs. 50.8%) and consistency (0.623 vs. 0.364) than the rule 1 with an error rate of zero. In a "live" valuation, the auto-verification system can reduce the TAT and error rate of verification by 51.5% and 0.13%, respectively, with a high passing rate of 82.8%. The auto-verification system for gene detection of thalassemia in this study can shorten the validation time, reduce errors, and enhance efficiency.

Prevalence of hyperuricemia among the Chinese population of the southeast coastal region and association with single nucleotide polymorphisms in urate­anion exchanger genes: SLC22A12, ABCG2 and SLC2A9.

Genome­wide association studies identified that a series of genes, including solute carrier family (SLC) 2 member 9 (SLC2A9), SLC 22 member 12 (SLC22A12) and ATP­binding cassette sub­family G member 2 (ABCG2) polymorphisms were associated with serum uric acid (SUA) levels in the present study. High incidence rates of hyperuricemia were reported in the Chinese population of the southeast coastal region; however, no evidence has confirmed the genetic association with SUA levels in this region. The present study aimed to investigate the association between uric acid levels and hyperuricemia, and genotypes of the Chinese population of the southeast coastal region. In the present study, a total of 1,056 healthy patients attending routine checkups were employed to investigate the incidence of hyperuricemia; 300 subjects were then randomly selected from the 1,056 patients for the identification of genetic polymorphisms of SLC2A9rs11722228, SLC22A12rs893006 and ABCG2rs2231142 via high­resolution melting. The present study reported that the incidence rate of hyperuricemia was 32.6% (42.5% in males and 22.7% in females, respectively). The prevalence of ABCG2rs2231142 polymorphisms (CC, CA and AA) was 44.4, 44.8 and 11.8%, respectively; SLC2A9rs11722228 polymorphisms (CC, CT and TT) were reported to be 49.3, 40.3 and 10.3%, respectively. Additionally, SLC22A12rs893006 polymorphisms (CC, CT and TT) were determined to be 57.2, 38.7 and 4.1%, respectively. The SUA levels were observed to be statistically different among each investigated genotype of ABCG2rs2231142 (P=0.047). The A allele was significantly associated with an increased risk of hyperuricemia (odds ratio=2.405 and 1.133 for CA and AA, respectively). The present study reported that high incidence rates of hyperuricemia in the Chinese population of the southeast coastal region may be closely associated with the variants of ABCG2rs2231142. Whether polymorphisms of SLC2A9rs11722228 and SLC22A12rs893006 are involved in hyperuricemia require further investigation.

Three-dimensional morphometric properties of rod- and plate-like trabeculae in adolescent cancellous bone.

BACKGROUND/OBJECTIVE: Despite many researches have been carried out on the three-dimensional microarchitecture of cancellous bone, the morphometric properties of rod and plate trabeculae in adolescent cancellous bone have not yet been investigated. This study aimed to investigate three-dimensional morphometric properties of rod- and plate-like trabeculae in normal adolescent cancellous bone, and to compare them with adult cancellous bones to reveal morphometric changes from adolescence to adult life to obtain more insight into the subchondral bone adaptations during development and growth. METHODS: This study included 23 normal human proximal tibiae. These tibiae were divided into three groups: adolescents (9-17 years, n = 6), young adults (18-24 years, n = 9), and adults (25-30 years, n = 8). From each tibia, six cubic cancellous bone samples (dimensions 8 × 8 × 8 mm3) were sawed from each medial and lateral condyle, yielding a total of 276 samples. These samples were scanned using micro computed tomography leading to three-dimensional cubic voxel sizes of 10.5 × 10.5 × 10.5 µm3. The morphometric parameters of individual rod- and plate-like trabeculae were calculated and compared among three age groups. RESULTS: Significant differences in some morphometric parameters were revealed. The mean longitudinal length of rods was significantly greater in the adolescents than in the young adults. Plate volume density showed an increasing trend with age, although not significant. Trabeculae were more plate-like in adolescents in the medial condyle of adolescents than in the lateral condyle, and changed towards more plate-like trabeculae in the adults. The single best predictor for the mechanical properties was apparent density. Apparent density alone explained 59% variations in Young's modulus, 77% in ultimate stress and 34% in failure energy, respectively (all p < 0.01). Morphometric parameters might improve this prediction. CONCLUSION: In conclusion, this study has reported for the first time the morphometric parameters of rod- and plate-like trabeculae in adolescent proximal tibial cancellous bone, which will improve our understanding of morphometric changes in individual trabeculae during development and growth. Furthermore, separate analysis of individual rods and plates may also help reveal disease-related morphometric changes beyond bone mineral density. THE TRANSLATIONAL POTENTIAL OF THIS ARTICLE: A thorough quantification of individual trabeculae during development and growth may help understand disease-related 3-D morphometric changes beyond bone mineral density.

[Time limit of repairing old sciatic nerve defect in rats].

OBJECTIVE: To investigate the time limit of repairing old sciatic nerve defect in rats and observe the repair effect of autogenous nerve transplantation on old sciatic nerve defect in rats. METHODS: Thirty-six SD rats of clean grade were randomized into 6 groups (n=6 per group). The animal model of nerve defect was made by transecting left sciatic nerve at the mid-thigh level. For groups A1, B1 and C1, defects were repaired by the contralateral autogenous nerve transplantation 1, 3 or 6 months after nerve damage and for the control groups of A2, B2 and C2, defects were not repaired. After operation, the gait, toe skin and leg muscle were examined weekly. Three months after autograft, a combination of electrophysiology examination, fluoro gold (FG) retrograde tracing and histological assessment including light microscopy, TEM was utilized to investigate the nerve functional recovery. RESULTS: Lameness and foot skin ulcers were observed in each group after nerve damage. At 2 months after autograft, such denervation symptoms were only improved in groups A1 and B1. At 3 months after autograft, the motor conduction velocity was (21.84 +/- 6.74), (20.02 +/- 4.17) and (16.09 +/- 8.21) m/s in groups A1, B1 and C1, respectively, showing no statistically significant difference between them (P > 0.05). The amplitude of compound muscle action potential (CAMP) was (12.68 +/- 4.38), (9.20 +/- 3.43) and (1.22 +/- 0.39) mV in groups A1, B1 and C1, respectively, indicating significant differences between groups A1, B1 and group C1 (P < 0.05). No CAMP was evident in groups A2, B2 and C2. FG retrograde tracing conducted 3 months after autograft showed that the positive cells were most common in group A1 with big soma, mild in group B1 and lest in group C1 with smallest soma. Gastrocnemius Masson staining showed that the fiber morphology of gastrocnemius in groups A1 and B1 was close to normal, while the rest 4 groups had an obvious atrophy of muscle fiber. The fiber cross-section area was (340.73 +/- 118.46), (299.88 +/- 119.75), (54.33 +/- 53.43), (78.60 +/- 51.38), (65.62 +/- 25.36), and (40.93 +/- 28.22) microm2 in groups A1, B1, C1, A2, B2 and C2, respectively, indicating a significant difference between groups A1, B1 and groups C1, A2, B2 (P < 0.05). Neurohistology observation showed that more regenerated nerve fibers were observed in group A1 and B1, but less in group C1. The myelin sheath was thick in groups A1 and B1, while it was thin in group C1. Only SCs and hyperplastic collagen fiber were found in groups A2, B2 and C2. CONCLUSION: Autogenous nerve transplantation is capable of repairing 1- and 3-month sciatic nerve defect to some degree in rat, but repair effect is not obvious on 6-month sciatic nerve defect in rats.