Breast cancer is caused by somatic mutation. As such, somatic mutation in breast cancer should be described to eluci-date the underlying mechanism. Next-generation sequencing has provided new insights into the genomics of breast cancer. New genes were identified and exhibited a relationship with breast cancer. Although these genes mutated at a low frequency, such genes in different cases could be categorized into specific pathways. Mutational signatures could be found in some cases, but such signatures were gener-ally not related to environmental exposure. Studies on intra-tumoral heterogeneity have revealed the ubiquitous presence of sub-clones in breast cancer;however, a major clone is also observed, accounting for>50%of tumor cells. Current advancements show that breast cancer genomics has been integrated into personalized medicine. Furthermore, a genome-informed and personalized molecular sub-typ-ing and treatment of breast cancer can be developed in the future.

Some intracellular enzyme-activities of BCG-activated alveolar macrophages (AM) and peritoneal macrophages (PM) were studied. It was found that (in normal) the activities of acid phosphatas (ACP), succinate dehydrogenase (SDH), non-specific esterase (NSE) in AM were higher than those in PM, but that of lactate dehydrogenase (LDH) was lower. Both in BCG activated AM and PM, the activities of ACP, SDH, NSE increased significantly, and that of LDH also enhanced in activated AM but not in PM.

Objective To observe the clinical efficacy of moxibustion plus Cang Gui Tan Xue (dark turtle seeking hole) needling method in treating cervical spondylosis of nerve root type. Method Sixty patients with cervical spondylosis of nerve root type were randomized into a treatment group and a control group, 30 in each group. The treatment group was intervened by moxibustion plus Cang Gui Tan Xue needling method, and the control group was by simple needling method. The symptom and sign score was observed before and after 2-course treatment, and the clinical efficacy was compared. Result The total effective rate was 90.0%in the treatment group versus 83.3%in the control group, and the difference was statistically significant (P<0.05). After intervention, the symptom and sign scores were significantly changed in both groups (P<0.05). There was a significant difference in comparing the symptom and sign score between the two groups after intervention (P<0.05). Conclusion Moxibustion plus Cang Gui Tan Xue needling method is effective in treating cervical spondylosis of nerve root type.

Objective: No complete study has been reported on methomyl and its metabolite in rat plasma at home and abroad.This study aimed to detect methomyl and its metabolite in rat plasma by high performance liquid chromatography-mass spectrometry(HPLC-MS).Methods: Ten Wistar rats received intragastric administration of methomyl 50mg/kg,and then executed and kept at room temperature for 72 hours.After that,methomyl and its metabolite in the heart-blood of the rats were determined by solid phase extraction(SPE) and HPLC-MS.Results: Compared with the blank controls,methomyl and its metabolite were detected in the plasma of the experimental rats,and so were protonate ions and multistage fragment ions.Conclusion: The methomyl metabolite in the rat plasma was S-methyl-N-hydroxythioacetamidate.

MR-T1ρ imaging is one of the novelest MRI techniques in recent years,T1ρ relaxation mainly reflect the interaction between water molecules and the surrounding macromolecu]es.Due to the unique point of view,the technique has been used to investigate a variety of pathological mechanisms in early stage of diseases,such as the content of collagen protein in articular cartilage,neuron apoptosis in neurodegenerative diseases and so on,which provides a new tool for detecting lesions in ultra-early stage or the evaluation of treatment effect.

Objective To establish a method of solid phase extraction-reversed-phase high performance liquid chromatography(SPE-HPLC)for determination of methomyl in plasma of rat.Methods The sample pretreatment method,the test conditions,the linear range,the sensitivity,the specificity,the precision, the accuracy,the stability and the recoveries for plasma were investigated by using rat plasma spiked with standard methomyl and intemal standard substance.Results The linear range was 0.1～20μg/mL ( r= 0.9993,P<0.001).The limit of detection was 0.03μg/mL(S/N ≥3).The intra and inter-day precision of assay for methomyl was less than 8.33%and 11.11%in plasma respectively.The intra and inter-day accuracy of assay for methomyl was between 90%and 120%in plasma respectively.The recoveries for methomyl were more than 88%±4.4%in plasma.Conclusion The HPLC method for quantitative and qualitative analysis of methomyl is simple,rapid and accurate,which is suitable for the identification of methomyl in the cases.

OBJECTIVETo investigate the trans-areola approach for costicartilage harvesting in order to avoid the obvious scar resulted by traditional approach through chest incision.

METHODSFrom 2013, 7 cases who underwent rhinoplasty received costicartilage harvesting through trans-areola approach. The incision was designed along the lower interior edge of right areola. Then the dissection was performed to expose the 5th costicartilage. Then a costicartilage, 2 - 5 cm in length, was harvested. The incision was closed delicately. The suture was removed 7 days after operation.

RESULTSThe patients were followed up for 3 months to 2 years without hypertrophic scar and breast deformity. The scar was located in conceal location. The satisfactory rate was higher than that in patients with chest incision.

CONCLUSIONSThe scar resulted from trans-areola approach is comparatively conceal, compared with that at chest.

Breast ; surgery ; Cicatrix ; pathology ; Costal Cartilage ; Dissection ; methods ; Female ; Follow-Up Studies ; Humans ; Nipples ; surgery ; Rhinoplasty ; methods ; Time Factors ; Tissue and Organ Harvesting ; methods ; Transplant Donor Site

Objective: Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed by excessive eating and gradual development of morbid obesity in later infancy or early childhood. Patients with PWS are often too young to manifest sufficient features or have atypical findings, making genetic testing important to confirm the diagnosis of PWS. Approximately 99% of patients with PWS have a diagnostic abnormality in the parent-specific methylation imprint within the Prader-Willi critical region (PWCR) at chromosome 15q11.2-q12. Of them, 70% have a paternal deletion; 25% have a maternal uniparental disomy (UPD); and <5% have a mutation in the imprinting center. Methods: Current techniques can identify a diagnostic abnormality, such as paternal deletion or maternal UPD for most of patients with PWS, but they are labor-intensive and cost-expensive. Multiplex ligation-dependent probe amplification (MLPA) is a novel, simple, and cost-effective technique for analysis of relative quantification in a single assay, which has recently been applied for the detection of genomic deletions, duplications, and amplifications in a variety of genes. Results: Six out of 20 patients referred for genetic diagnosis of PWS were found to have a deletion by MLPA, confirmed by FISH and DNA methylation analysis with 100% concordance. Conclusion: MLPA's high sensitivity and specificity for deletion detection is the same as FISH or Southern blot based analysis. Additional collaborative effort for developing and validating the complete MLPA-PWS assay, for not only detecting deletion but also identifying methylation abnormality, is on going.

Objective: Spinal muscular atrophy(SMA), an autosomal recessive neuromuscular degeneration of the anterior horn cells of the spinal cord and brain stem, results in one of the most common diseases with muscle fatigue and atrophy. Most SMA cases including all the types are due to the homozygous deletion of at least exon 7 within the survival motor neuron 1 (SMN-1) gene. Although a "golden standard" assay (PCR with mismatch primer followed by enzyme digestion) is very reliable for the identification of homozygous SMN-1 deletion, the carrier detection of heterozygous SMN-1 deletion remains a challenge. Methods: Some PCR-based gene dosage assays or multiplex PCR allow for the determination of the copy number of SMN-1 gene to identify heterozygous deletion, but these procedures are often time consuming and available on a limited clinical basis. Recently developed MLPA (multiplex ligation-dependent probe amplification) is an efficient procedure that can accurately analyze relative quantification to establish the copy number of the SMN gene. We performed a validation for simultaneous detection of homozygous SMN-1 deletions of SMA patients and heterozygous SMN-1 deletions of SMA carriers in a simple assay using a MLPA-SMA assay specific reagent. Results: Six out of 20 patients with SMA were found to have homozygous SMN-1 deletion, confirmed by the PCR/digestion assay. All 4 parents of the children with SMA had heterozygous SMN-1 deletion, confirmed by an independent relative quantitative analysis. Conclusion: MLPA provides a simple, rapid and accurate method of simultaneously detecting homozygous deletions and heterozygous deletions in a single assay for both SMN-1 and SMN-2 genes.

Objective To study the color digital fundus photography of the fundus in the physical examination in screening and clinical importance to guide treatment.Methods 50 245 cases (100 490 eyes) healthy subjects with Topcon TRC NW100 digital color fundus camera to take pictures after the screening analysis.Results The number of the Inspector General,50 245 cases,45 373 cases of normal,accounting for 90.3％,a general description of those 359 cases,accounting for 0.7％,the positive findings in 4513 cases,accounting for 9.0％.Positive comparison between men and women of all age groups showed no significant difference ( P ＞ 0.05 ).Positive findings of retinal arteriosclerosis in the detection rate of 7.4％,0.1％ of the diabetic retinopathy,macular degeneration,0.1％,0.6％ of retinopathy,optic atrophy 0.1％,the optic nerve C/D greater than 0.7％.Screening of the positive findings of the subjects to give timely and accurate diagnosisandtreatmentrecommendations.Conclusion Digitalcolorfundusphotography objectivity,reproducibility andnon-invasive characteristics of the image data to facilitate thestorage and exchange,andretinalmicrovascular disease couldbetter predictthe effects on cardiovascular and cerebrovascularevents,and therefore have important applications in the field ofhealthy value.