Objective To map the mutation gene of autosomal dominant congenital lamellar cataract in a family pedigree of four generations.Methods A Family with non-syndromic congenital cataract was recruited from the Eye Center of Tongren Hospital affiliated to Capital Medical University.Family history was recorded.Twenty-eight members of the family pedigree(including twelve affected and sixteen unaffected individuals)were enrolled into the study with informed consent.The twelve affected individuals underwent full clinical and ophthalmological examinations to rule out any concomitant disorders.The sixteen unaffected individuals only underwent ophthalmological examination.Blood samples were collected from all the 28 subjects for genomic DNA preparation.Eighteen different genes were previously reported to be associated with non-syndromic autosomal dominant congenital cataract(ADCC).Multiplex polymerase chain reaction(PCR)was carried out with microsatellite markers near to candidate loci related to congenital cataracts.PCR products from each DNA sample were separated on a 6% polyarcylamide gel and analyzed.Exclusion analysis was performed by allele sharing analysis and gene sequencing.Results The clinical phenotype in the family was isolated corroborating autosomal dominant congenital lamellar cataract.No mutation was found in the eighteen genes in all twenty-eight subjects.Eighteen candidate genes were excluded by allele sharing method and gene sequencing.Conclusion All known ADCC loci have been excluded from this family,which further indicates the clinical and genetical heterogeneity of congenital cataract,and an important clue is provided for finding more cataract responsible genes.Further study should be carried out to screen other relevant genes or loci in patients with ADCC.

Objective To evaluate the effect of laparoscopic myomectomy. Methods Clinical data of 62 cases of laparoscopic myomectomy were analyzed retrospectively. Results Success was achieved in all the operations.Of the 62 cases,intramural myoma was confirmed in 45 cases,and subserous myoma,17 cases (non-pedicled,10 cases; pedicled,7 cases).A total of 101 myomas were removed,with a diameter of 1～9 cm (mean,6 8 cm).The mean operative time was 25～270 min (mean,99 min),and the intraoperative blood loss,10～400 ml (mean,63 ml).The postoperative hospital stay was 2～8 days (mean,4 7 days) and the overall complication rate was 25 8% (16/62).Follow-up observation in 42 cases for 2～36 months (mean,9 months) found recurrence in 2 cases and full-term pregnancy in 2 out of 10 cases with infertility. Conclusions Laparoscopic myomectomy has advantages of safety,quick recovery,short hospital stay and fewer complications.

Colorectal cancer is a kind of malignancies with high incidence in the worldwide, that is seriously harmed human health. So far the pathogenesis of the disease is not fully understood, this causing many difficulties to the diagnosis and treatment of the disease, and resulting in the cure rates of disease is not ideal. With the development of molecular genetics and molecular biology, many oncogenes and tumor suppressor genes have been found to be associated with the disease, and this made it is possible to reveal the pathogenesis of colorectal cancer at the molecular level. However, it is a complex and multi-step process from normal colorectal epithelial cells transformed to colorectal cancer cells, and it is the results of polygenic and multifactorial interactions. Now it is thought that the Wnt, TGF-beta, PI3K/Akt, MAPK and p53 signaling pathways are closely associated with pathogenesis of colorectal cancer. Based on the five kinds of signaling pathways as the main line, this article reviewed the roles of different signaling pathways and their related genes in the pathogenesis of colorectal cancer.

Objective To investigate the application of two dimensional bar code on the quality tracking of surgical instrument. Methods Sixty cases of surgical instrument packets without sterilization in sterilization and supply center were selected.The parkets were divided into the observation group and the control group with 30 cases in each group.The observation group was applied two dimensional bar code on the surgical instrument packets.We eraluated the effect of quality tracking according to the using time that started from discorering sterilization items unqualified to tracking to the patient who use this item.The control group was applied traditional methods.Results The quality tracking time of experiment group was significantly shorter than the time of control group. The difference was statistically significant(P<0.001).The staff satisfaction of the observation group was better than that of the control group.The difference was statistically significant(P<0.001).Conclusion Applying two dimensional bar code can improve the work efficiency,the sterilization quality of surgical instrument packet and guarantee the operation safety of patients.

Objective To evaluate clinical performance on dry chemistry method of Vitros 350 for the determination of serum bilirubin in order to ensure the quality of examination.Methods Evaluation protocols were employed to evaluate the precision,the trueness and the linearity of total bilirubin(TBIL),unconjugated bilirubin (Bu)and conjugated bilirubin (Bc)by dry chemistry method,to verify the reference ranges of TBIL,Bu and Bc simultaneously.Results The precision and trueness of TBIL,Bu and Bc were within the allowable ranges of Clinical and Laboratory Ltandards Institute (CLSI).The linear range of TBIL,Bu and Bc in our laboratory were 6.57-428.83 μmol/L,4.5-320.1 μmol/L and 4.5-364.9 μmol/L respectively.Conclusion Both technical per-formance evaluation and diagnostic performance verification of bilirubin by dry chemical detection system could meet the needs of the clinic.

Objective Autosomal dominant congenital cataract (ADCC) is a common heredit disease.Some known genes and mutated loci related to ADCC have been found.The present study provides other disease-causing genes in the ADCC family.This study was to identify the genetic defect in four generations of a Chinese family with autosomal dominant congenital membranous cataracts and demonstrate the functional analysis of a candidate gene in the family.MethodsThe family with hereditary cataract was recruited from the Tianjin Medical University Eye Center.The family history was collected and recorded.Clinical and ophthalmologic examinations were performed on 6 affected and 14 unaffected family members and periphery blood samples were collected from all of the subjects for genomic DNA preparation.The members were genotyped with microsatellite markers at loci associated with cataracts.Multiplex polymerase chain reaction (PCR) was carried out with microsatellite markers near to candidated loci related to congenital cataracts.PCR products from each DNA sample were separated on a polyarcylamide gel and analyzed.Exclusion analysis was performed by allele sharing analysis and gene sequencing.This trail was approved by the Human Research Ethics Committee of this hospital.The oral informed consent was obtained from all of the subjects before the initiation of this trial.ResultsThe hereditary characteristic of this family was in accordance with the autosomal dominant inheritance with a gene penetrance 100%.Affected members of the family were diagnosed with membranous cataracts without other ocular symptom.The disease-causing gene locus were mapped to 22q11.2-q12.1 at a size of about 2.4 Mbp.The multiple-sequence alignments of complete coding region and splice site of CRYBB1,CRYBB2,CRYBB3,CRYBA4 were obtained but no mutation was found in this study.CRYBB1,CRYBB2,CRYBB3,CRYBA4 were screened by directly sequencing.ConclusionAll known ADCC loci have been excluded from the family.Further study should be carried out to screen other relevant genes or loci in patients with ADCC.The pathogenic gene in the family should be identified through extensive scanning of genes,and a new disease-causing gene may exist in this family.

Objective To analyze the GDM of 336 cases with chronic HBV in pregnancy. Methods According to HBV DNA≥1.0 × 103 IU/mL, participants were divided into HBV DNA (+) or (-) group. 409 cases without HBV were selected as control group. Differences on GMD incidence between groups and virus load and OGTT blood sugar correlation were compared. Results The incidence of GDM of HBV DNA (+) or (-) group was 16.77% and 17.71%, which is higher than that in HBV group (10.27%). The difference is significant (P < 0.05). The correlation index between HBV DNA and fasting blood-glucose is r = 0.005, P = 0.610, the result of which is not statistically significant. But correlation index between HBV DNA and blood sugar at 1 h , 2 h are r = 0.082, 0.086; P = 0.000, 0.000, the result of which is statistically significant. Conclusion The oc-currence of GDM were higher in HBV DNA (+) or (-) group. The viral load is positively related with blood sugar of glucose tolerance at 1 h or 2 h.

Objective To analyze the clinical characteristics of gravidas with HBV in Nanfang Hospital from 2008 to 2014. Methods 22 906 gravidas were retrospectively investigated. Results The HBsAg positive rates were 11.64% and 6.16% when the gravidas were divided into Cantonese and non-Cantonese groups (χ2 =193.370, P < 0.005). The ALT abnormal rates in HBeAg positive and HBeAg negative gravidas were 17.96% and 6.68% (χ2=62.594, P<0.005). Conclusion The HBsAg positive rate of gravidas in Guangdong and the ALT abnormal rate of HBeAg positive gravidas are higher.

Objective:To explore a new method for detecting the bactericidal effect of oiling agent in vitro,and to determine the disinfectant effecacy ofozonated camellia oil on Staphylococcus aureus.Methods:Suspension of Staphylococcus aureus was prepared and innoculated on the LB plate by plate scribing method.After culture overnight,21 bacterial monoclones with the same diameter were selected and divided into 3 groups:A negative control group,a baseoil (camellia oil) group and an ozonated camellia oil group.We used a ring to isolate the single clone and added oil inside the ring,cultured the whole plate over night,picked out each single clone (with gel) to 5 mL LB medium and cultured it for 12 h.The final concentration of the LB medium was detected by plate count method and turbidimetry.Results:According to the plate count method and turbidimetry,the bacterial concentration in the ozonated camellia oil group was lower than that in the negative control group and base oil group Conclusion:Bacterial monoclone culture method shows that ozonated camellia oil can significantly kill Staphylococcus aureus,and this method is an effective method for evaluating the bactericidal function of the oiling agent in vitro.

Objective To study the ultramicrostructure change and keartin(KRT1) expression in skin lesion of symmetrical acral keratoderma(SAK) .Methods Thirteen cases of SAK in the First Affiliated Hospital of Fujian Medical University and the outpatient department of the Dongguan Municipal Sixth People′s Hospital were selected as the study subjects .The histopathological samples were taken from the wrist site .The retinoic acid preparation or corticosteroid preparation or Chinese medicine preparation were not externally used within 2 months before taking skin lesion sample .The healthy control skin samples were the normal skin in 12 cases by plastic surgical resection .The ultramicrostructural change were observed by the transmission electron microscopy .The KRT1 expression in skin lesion of 13 cases of SAK and healthy skin tissue of 12 cases were measured by immunohistochemistry method .Results The SAK ultramicrostructures manifested by the interruption of keratinizing envelope continuity in horny layer , and remarkable aggregation of keratin filament in upper stratum spinosum and surrounding nucleus of granular layer .KRT1 was ex-pressed in the cells of SAK skin lesion and basal layer ,spinous layer ,granular layer and horny layer .The cytoplasm and cytomem-brane staining was common .The KRT1 expression in skin lesion was significantly higher than that in normal skin (t=2 .210 ,P=0 .038) .Conclusion The ultramicrostructure features of SAK skin lesion are abnormal differentiation of epidermis keratin fila-ments ,which might be related with overexpression of KRT 1 .