Objective:To explore the relationship between DRD2 - 141C Ins/Del polymorphism and heroin craving. Methods:380 heroin addicts who were under abstinence were given the cue- elicited heroin craving experiment. And then we detected the polymorphism of DRD2- 141CIns/Del for them by using PCR- RFLP. We compared the relationship between genotypes of DRD2- 141CIns/Del and heroin craving before and after cue exposure. Results:No significant differ- ence has been found between heroin craving before and after cue- exposure in three genotypes of DRD2- 141CIns/Del. Conclusion:D2 receptor gene - 141CIns/Del polymorphisms may have no association with the susceptibility of heroin crav- ing.

Objective: To report a case of azoospermia with a karyotype of 45,X,der(Y)t(Y;13)(q11.2;q12),-13,accompanied with slight bilateral gynecomastia and multiple nodules.Methods: The karyotype was identified by karyotyping and FISH,and the breakpoints of the Y chromosome and the copy number of the BRCA2 gene in 13q12 determined by PCR-STS and DNA polymorphic analysis.The testis and nodule tissues of the patient were obtained for biopsy.Results: FISH confirmed SRY and centromere of the Y chromosome on the questionable 13 chromosome and the karyotype to be 45,X,der(Y)t(Y;13)(q11.1;q12),-13.ish der(Y)(SRY+,DYZ3+,wcp13+).PCR-STS showed the deletion of regions AZFa,b and C,with a breakpoint located inYq11.1 below sY82.No deletion of the BRCA2 gene was observed.The patient was diagnosed with Sertoli cell-only syndrome by testicular biopsy and with angiolipomata by pathological examination of the nodule tissue.Conclusion: The patient's phenotype of complete masculinization could be attributed to presence of the SRY gene,and his azoospermia with small testis to the absence of a fragment from Yq11.1 to Yqter.However,the molecular mechanism of angiolipoma remains unknown.

Background and purpose:Rabs are members of Ras-related small GTPase superfamily. Rab27A is a unique member in the Rab family and has specific implications in human genetic diseases. We studied the potential role of Rab27A in proliferation, distribution of cell cycle, apoptosis and invasion of breast cancer cells and its mechanism(s). Methods:The eukaryotic expression vector containing Rab27A open reading frame (ORF) pcDNA3.1(+) - Rab27A was constructed and transfected into MDA-MB-231 breast cancer cells. Then we detected the changes in terms of cell growth, cell cycle distribution, apoptosis and in vitro invasion capability before and after transfection. We also applied RT-PCR to investigate the molecular basis.Results:① The expression of Rab27A was increased as invasive and metastatic ability increased in four human breast cancer cell lines. ② Overexpression of Rab27A can promote breast cancer cells to grow faster, increase the proportion of S phase cells, avoid apoptosis and invade in vitro. ③ Rab27A transfectants constitutively enhanced the expression of Cyclin D1, MMP-7 and MMP-9 in MDA-MB-231 cell lines, on the contrary, that of p16 were down-regulated constitutively. Reduced Rab27A expression by RNAi down-regulated the expression of Cyclin D1, MMP-7 and MMP-9, and up-regulated p16 expression.Conclusions:Rab27A can stimulate breast cancer cells to proliferate, increase the proportion of cells in S phase,avoid apoptosis and invade in vitro by regulating the expression of Cyclin D1, MMP-7, MMP-9 and p16.

Objective To discuss the clinical application of CT-guided localization of small pulmonary nodules (SPNs) by using double-hook-wire before the performance of video-assisted thoracoscopic (VATS) resection.Methods Before the performance of VATS resection,CT-guided localization by using doublehook-wire was carried out in 54 patients with SPNs (67 small pulmonary nodules in total) and CT-guided localization by using single-hook-wire was employed in 63 patients with SPNs(81 small pulmonary nodules in total).The location success rate and complication rate of the double-hook-wire technique and the singlehook-wire technique were calculated.Results The location success rate of CT-guided localization for SPNs by using double-hook-wire performed before VATS resection in 54 patients was 100％.The incidences of pneumothorax and hemorrhage were 29.6％ (16/54) and 48.1％ (26/54) respectively.In 63 patients receiving single-hook-wire technique,the location success rate for SPNs was 98.4％ (62/63).The incidences of pneumothorax and hemorrhage were 28.5％ (18/63) and 25.4％ (16/63) respectively.Conclusion CT-guided localization for SPNs by using double-hook-wire before VATS resection can reduce the risk of failure in positioning the hook-wire,and this technique is an important supplement for other localization techniques.

Chronic inflammation and tumor occurrence and development, recurrence and metastasis and immune escape and other key links have a far-reaching impact. The level of inflammation and immunity can be reflected by the markers of inflammatory response, including C-reactive protein, neutrophils, platelets, lymphocytes and their combinations in the blood, such as neutrophil to lymphocyte ratio, platelet to lymphocyte ratio, lymphocyte to monocyte ratio, systemic immune inflammation index and so on. At present, inflammatory index has been proved to be predictors of recurrence and survival in a variety of malignant tumors. Hepatocellular carcinoma (HCC), as a common invasive tumor, is often diagnosed in the late course of the disease, so patients often can not achieve a satisfactory prognosis. This article mainly reviews the clinical application of the above inflammatory response indexes in HCC.

Hepatocellular carcinoma is one of the pathological types of primary liver cancer, and its prognosis is often not ideal. The prognosis of patients with hepatocellular carcinoma is not only closely related to tumor load and general physical status, but also closely related to liver reserve function. Albumin-bilirubin grading (ALBI) is a new model reflecting liver reserve function. In many therapeutic measures, such as surgical resection, liver transplantation, transcatheter arterial chemoembolization, radiofrequency ablation and targeted therapy, its ability to predict the prognosis of patients with hepatocellular carcinoma has been proved to be no less than that of Child-Pugh grade, which is widely used in clinic, and its predictive performance will be further improved when combined with other indexes.Therefore, it has great application value in clinical practice. This article mainly reviews the clinical application of ALBI grade in patients with hepatocellular carcinoma and the progress of research results in recent years.

Objective:To compare the distribution differences of serum protein electrophoresis (SPE) among different gender and age individuals, and to explore the clinical application of SPE screening monoclonal gammopathy.Methods:A retrospective analysis was conducted based on the SPE results obtained from 533 989 cases enrolled from January 2018 to December 2019 at Zhongshan Hospital Affiliated to Fudan University. Among these patients, 435 479 inpatients were from departments of hematology, nephrology, spinal surgery, endocrinology, and rheumatology and immunology; and 98 510 were apparently healthy individuals. The distributions of albumin, α1 globulin, α2 globulin, β1 globulin, β2 globulin and γ globulin in different gender and age groups (≤20, 21-30, 31-40, 41-50, 51-60, 61-70, 71-80, 81-90, ≥91 years old) were compared. A total of 10 014 cases were selected by immunofixation electrophoresis (IFE). The positive detection rates of different SPE bands and IFE bands were analyzed. The sensitivity and specificity of SPE methods were determined according to IFE results as the gold standard.Results:No significant difference was examined in the proportion of SPE bands between different genders ( P>0.05). There were statistically significant differences in the proportion of albumin bands between apparently healthy individuals and hospitalized patients at different ages (apparently healthy individuals: F=5.12, P<0.05, inpatients: F=4.18, P<0.05), and all of them decreased with the increase of age. The proportion of γ globulin bands increased with age (apparently healthy individuals: F=1.34, P<0.05; inpatients: F=1.24, P<0.05). The sensitivity of SPE was 69% (2 098/3 051), and the specificity was 97% (6 721/6 963). Compared with IFE method, the positive detection rate of monoclonal gammopathy was significantly different (χ2=5 049.94, P<0.05). The positive rate of monoclonal gammopathy in γ globulin region (21.11%, 2 114/10 014) was higher than that in β globulin region (3.28%, 328/10 014) (χ2=90.74, P<0.05) and β-γ globulin region (1.63%, 163/10 014) (χ2=44.34, P<0.05). IgG and IgM bands are common in γ globulin region. Among them, IgG-κ type accounted for 94.1% (995/1 058), IgG-λ type accounted for 94.8% (690/728), IgM-κ type accounted for 89.2% (222/249), IgM-λ accounted for 83.8% (62/74). IgA bands are common in β region, of which IgA-κ accounted for 49.8% (103/207) and IgA-λ accounted for 51.6% (149/289). The positive rate of monoclonal gammopathy of IgG-κ type was the highest (10.57%, 1 058/10 014), and the positive rate of monoclonal gammopathy of IgM-λ type was the lowest (0.74%, 74/10 014). Conclusions:With increasing age, the proportion of albumin band in SPE decreased and the proportion of γ globulin band increased. IgG and IgM type monoclonal gammopathy is mostly found in the gamma region, with a higher detection rate in IgG type. IgA type monoclonal gammopathy is mostly found in the β region, with a lower detection rate.

OBJECTIVETo evaluate the role of germline mutations of TP53 gene among a Chinese population with high risk for breast cancer.

METHODSA total of 81 BRCA-negative breast cancer probands from cancer families were analyzed using targeted capture and next-generation sequencing. Candidate mutations were verified with Sanger sequencing. Co-segregation analyses were carried out to explore the likely pathogenicity of the mutation.

RESULTSOf the 81 BRCA-negative patients, 3 exonic mutations in the TP53 gene were identified in 3 breast cancer patients. Of these, 2 mutations were previously reported and 1 was novel. One family with TP53 mutation has met the criteria for Li-Fraumeni syndrome (LFS) and accounted for 9.1% of all families who fulfilled the diagnostic criteria for LFS. Two of the carriers were diagnosed with breast cancer under the age of 30, and have accounted for 11.8% (2/17) of all very young (≤30 years) breast cancer patients in our study.

CONCLUSIONThe TP53 germline mutation is more common in Chinese population with a high risk for breast cancer than previously thought. TP53 gene mutation screening should be considered particularly for patients with a family history of LFS and very young age of onset.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Breast Neoplasms ; ethnology ; genetics ; China ; DNA Mutational Analysis ; Exons ; Family Health ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Germ-Line Mutation ; Heterozygote ; Humans ; Li-Fraumeni Syndrome ; ethnology ; genetics ; Male ; Middle Aged ; Pedigree ; Risk Factors ; Tumor Suppressor Protein p53 ; genetics ; Young Adult

No abstract available.
Uterine Cervical Neoplasms ; Uterus