Objective　To summarize the phenotypic and genotypic characteristics of mitochondrial combined oxidative phosphorylation deficiency type 1 (COXPD1), and to improve the clinicians' awareness of this mitochondrial encephalomyopathy. Methods　The clinical characteristics, physical examination, laboratory examination and other data of a child with COXPD1 were analyzed retrospectively. The diagnosis was confirmed by clinical whole exon sequencing and high-precision mitochondrial genome full-length PLUS gene detection, and the phenotype and genotype were analyzed by reviewing relevant literature. Results　A one-year and five-month-old boy mainly presented with hyperlactacidemia and abnormal liver function. Clinical whole exon sequencing showed that the child had homozygous variation of c. 688G>A(p.G230S) in the GFM1 gene. Sanger sequencing verified that the variation was respectively inherited from the parents of the child (both were heterozygous) with the autosomal recessive inheritance pattern. The high-precision mitochondrial genome full-length PLUS detection also did not find pathogenic mutations related to clinical phenotypes. The child was diagnosed with COXPD1. After "cocktail" therapy and liver protection therapy, the patient's condition improved. Conclusions　The phenotype of COXPD1 is complicated and variable, mainly liver type and brain type. The mutation of GFM1 gene affects mitochondrial translation system function, and early gene detection is helpful for definite diagnosis.

Objective To make an inquiry into how to reconstruct a lifelike ear, and which is one of the most thorny problem in plastic surgery. Methods The operation was divided into two stages: the first stage was that an expander was put into a patient's opisthotic subscutaneous region and lobe of the ear was transposed or laid aside; the second stage was that the expander was taken off by a 2.5～3.0 ㎝ incision at the top or bottom of the expanded flap. The reniform incision except the preauriclar pedical part which was 0.5～0.6 ㎝ away from the expander edge was slit until the deep fascia and dissected forword at the same layer in order to form a "bag-shape" flap. Then, an auricle model was put and fixed and aspirating tube was inserted in the "bag". The back of the reconstructive ear was repaired with the full thickness graft. Results It made operating procedure simple, negative pressure plasty looked good, the blood circuit of flap was increased and occurrence rate of complication reduced. The operation had been performed on 18 patients with a satisfactory results. Conclusion The success rate of the procedure is higher and the shape of the reconstructed ear is more lifelike than that of the traditional one.

Objective To investigate the genetic susceptibility of HLA DRB1, DQB1 alleles to colorectal neoplasm in Hubei Han Chinese. Methods 54 patients with colorectal neoplasm and 136 healthy controls were examined for HLA DRB1 and HLA DQB1 genotypes, which were typed by using polymerase chain reaction/sequence specific primer (PCR/SSP) technique and allele sequence analysis.SAS(6.12 for win) was used for statistics. Results Compared with the control, the allele frequency (AF) of HLA DRB1*0901 (0.2315 vs 0.1397, P =0.033) and DRB1*080X(0.009 3 vs 0.080 9, P =7.11?10 -3 ) was significantly increased or decreased, respectively, in colorectal neoplasm of Hubei Han Chinese. And there was not significantly different between the patients with the control in the AF of HLA DQB1 alleles. Conclusion The results indicate that HLA DRB1*0901 allele is the positive association to , but DRB1*080X is the negative association to the patients of colorectal neoplasm among Hubei Han Chinese. The nucleotide sequences of these two alleles were identified by allele sequence analysis, approach to the corresponded allele sequence(exon 2)of genbank.There is not association HLA DQB1 alleles with the patients.

Objective To investigate the association of HLA DRB1 alleles with gastric carcinoma and H. pylori infection. Methods HLA DRB1 alleles polymorphism in 63 patients with gastric adenocarcinoma and 136 normal controls were tested with the polymerase chain reaction/sequence specific primer(PCR/SSP) technique. The status of H. pylori infection was determined by histology of gastric biopsy specimens and /or by ELISA. Results Both HLA DRB1 0901 and HLA DRB1 12 were positively associated, and HLA DRB1 15 was negatively associated with gastric adenocarcinoma, but no significant associations were found between patients with and without above HLA DRB1 alleles with regard to patients' age at presentation, sex ratio, tumor site (distal vs proximal), TNM staging, histological grading of tumor or status of H. pylori infection. Conclusions Our results suggest that HLA DRB1 0901, DRB1 12 and DRB1 15 are associated with gastric adenocarcinoma, but are not associated with the clinical features of gastric adenocarcinoma and the status of H. pylori infection.

Objective To probe into the association between the polymorphisms of HLA DRB1, DQB1 alleles and esophageal squamous cell carcinomas and then to further examine the features of their immunogenetics. Methods The polymorphisms of HLA DRB1, DQB1 alleles were typed by sequence specific primer based on polymerase chain reaction in 42 patients with esophageal squamous cell cancer and 136 normal control subjects. Results Allele frequency of HLA DRB1 *0901 allele was significantly higher in esophageal cancer patients than that in normal controls ( 0.250 0 vs 0.139 7 , P = 0.028 , odd ratio= 2.053 , etiologic fraction= 0.128 2 ) and so was allele frequency of HLA DQB1 * 0301 ( 0.297 6 vs 0.187 5 , P = 0.046 , odd ratio 1.835 , etiologic fraction 0.135 4 ). There was no association between the rested alleles of HLA DRB1 and DQB1 alleles in the patients. Conclusions Individuals carrying HLA DRB1 * 0901 and/or DQB1 * 0301 may be susceptible to esophageal squamous cell carcinoma, and nucleotide sequences of these two alleles were in accordance with the corresponded allele sequence (exon 2) of genebank.

Objective:To research the efficacy and adverse reactions of compound matrine injection combined with chemotherapy in the patients with advanced gastric cancer. Methods:According to the order of admission, 68 patients with advanced gastric cancer were divided into the observation group (34 cases) and the control group (34 cases). The two groups of patients were given chemo-therapy, and the observation group was treated with compound matrine injection additionally. After 3 months treatment, the curative effect and KPS score before and after the treatment were compared between the two groups. And adverse drug reactions were recorded for the two groups. Results:The total effective rate of the observation group (44. 12%) was significantly higher than that of the control group (20. 59%,P<0. 05). After the treatment, the KPS score of the observation group was significantly higher than that of the con-trol group (P<0. 05). The incidence of adverse drug reactions in the observation group was significantly lower than that in the control group (P<0. 05). Conclusion: The curative effect of compound matrine injection combined with chemotherapy for advanced gastric cancer is notable, which can significantly improve the KPS score and reduce the incidence of adverse reactions, and is worthy of promo-ted use in clinical practice.

The 54th ASH annual meeting should be considered as a revolution for treatment of lymphoma.Keep away from chemotherapy will not be just a dream,it based on the deep understand of lymphoma genesis and quick development of different targeted agents.The typical examples are the dramatic novel agents targeting B cell receptor signaling pathway and microenvironment.There combination,such as R-square regimen,showed unbelievable efficacy in indolent B cell lymphomas and tiny side effects.It is sure that therapy breakthroughs in aggressive B cell lymphomas and T/NK cell lymphomas are in the very near future.

Objective Comparison of three different molecular assays for the detection and molecular characterization of circulating tumor cells in breast cancer .Methods The retrospective study compared three different molecular assays to detect CTC in the peripheral blood of 30 healthy individuals and 71 benign breast disease patients and 83 early and 84 metastatic breast cancer patients .All samples were collected at the outpatient , inpatient and physical examination department of Sichuan Provincial People ′s Hospital from January 2011 to June 2014.The same cDNAs were analyzed by:singleplex RT-qPCR assay for BCL-2, multiplex RT-qPCR for BCL-2, HER-2, HMAM, and a commercially available molecular assay (AdnaTest BreastCancer ) for GA733-2, MUC-1, HER-2.The positive of CTC were compared among healthy individuals and benign breast disease patients and breast cancer patients .Chi square test was used to compare the expression of gene markers among the three groups , and the agreement of Kappa test was used to evaluate the method.Results (1) Detection rates of early breast cancer by single RT-qPCR, Adna kits and multiple RT-qPCR were 13.3%, 16.9% and 18.1%, respectively , and the detection of metastatic breast cancer were 31.0%, 42.9%and 35.7%, respectively.There were significant differences in the positive of CTC by three molecular assays between healthy individuals and benign breast disease patients and early breast cancer patients ( The test values were 4.235 and 4.301, 5.367 and 5.474, 5.894 and 6.023 respectively, P<0.05).There were no differences between benign breast disease patients and early breast cancer patients (The test values were 0.891,0.748 and 0.701 respectively,P >0.05) .There were significant differences between metastasis breast cancer patients and healthy individuals and benign breast disease patients and early breast cancer patients ( The test values were 8.429,7.553 and 7.061;10.24, 9.025 and 8.745; 9.658, 8.417 and 8.201 respectively,P<0.05).(2) In early breast cancer: The concordance between AdnaTest and single RT-qPCR was 79.5%while between AdnaTest and multiplex RT-qPCR was 77.1%.No agreement was found among them ( The test values were 1.065 and 1.871, P were 0.371 and 0.258 ) .The concordance between single RT-qPCR and multiplex RT-qPCR was 80.7%.No agreement was found between them (The test values was 2.814, P was 0.156).(3) In patients with overt metastasis:The concordance between AdnaTest and single RT-qPCR was 78.6%( The test values was 10.986).While between AdnaTest and multiplex RT-qPCR was 80.9%( The test values was 9.251 ) . Agreements were found among them ( P was 0.002 and 0.005 respectively ) .The concordance between single and multiplex RT-qPCR was 88.1%( The test values was 12.364 ) .Agreement was found between them (P was 0.001).Conclusions No correlations were found among different molecular methods to detect CTC in the early primary breast cancer , but correlations were found in the metastatic breast cancer , suggesting that different rate of CTC caused by the number of CTC and its heterogeneity should be considered to the clinical diagnosis and treatment of breast cancer while molecular method is used .

Child, Preschool ; Humans ; Male ; Myiasis ; diagnosis

Objective To establish the HPLC fingerprint of Eupatorium chinense.Methods The ana-lysis was performed on a Kromasil C18 column(250 mm?4.6 mm,5 ?m) with acetonitrile-water as mobile phase in a gradient mode.The flow rate was 1.0 mL/min.The column temperature was 25 ℃ and the detection wavelength was 230 nm.Results The fingerprint of E.chinense with common 13 peaks was established.The relative retention time and the ranges of relative area of the common peaks were determined.Conclusion The established fingerprint could be used for the quality control of E.chinense.