Single-nucleotide polymorphisms (SNPs) are the most abundant forms of human genetic variation. These variable sites are present at high density in the genome, making them powerful tool for the diagnosis of genetic and genetic-related diseases, population genetics research and drug development. They are also found widespread application to the forensic medicine. This report mainly describe the SNPs characteristics and its potential applications to the forensic medicine including the possibility, the problems and high-throughput automation detection methods.
Forensic Medicine ; Humans ; Polymorphism, Single Nucleotide

Aortopulmonary Septal Defect ; diagnostic imaging ; surgery ; Female ; Humans ; Infant ; Tomography, X-Ray Computed ; methods

Objective: To investigate the characteristics of non-alcoholic fatty liver disease (NAFLD) and its associated factors in rheumatoid arthritis (RA) patients. Methods: This cross-sectional study recruited 385 RA patients [including 72 (18.7%) male and 313 (81.3%) female] who received abdominal sonographic examination from August 2015 to May 2021 at Department of Rheumatology, Sun Yat-Sen Memorial Hospital. There were 28 RA patients at 16-29 years old and 32, 80, 121, 99, 25 at 30-39, 40-49, 50-59, 60-69, ≥ 70 years old, respectively. Demographic and clinical data were collected including age, gender, history of alcohol consumption, disease duration, body mass index (BMI), waist circumference, blood pressure, RA disease activity indicators and previous medications. Logistic regression analyses were used to identify the associated factors of NAFLD in RA patients. Results: The prevalence of NAFLD was 24.2% (93/385) in RA patients, 26.3% (21/80) in 40-49 age group and 33.1% (40/121) in 50-59 age group. There were 22.1% (85/385) and 3.6% (14/385) RA patients with overweight and obese, in which the prevalence of NAFLD was 45.9% (39/85) and 78.6% (11/14) respectively, which was 2.6 folds and 4.5 folds that of RA patients with normal BMI. Although there was no significant difference of age, gender and RA disease activity indicators between RA patients with or without NAFLD, those with NAFLD had higher proportions of metabolic diseases including obese (11.8% vs. 1.0%), central obesity (47.3% vs. 16.8%), hypertension (45.2% vs. 29.8%) and type 2 diabetes mellitus (24.7% vs. 12.0%), consistent with higher levels of total cholesterol [(5.33±1.31) mmol/L vs. (4.73±1.12) mmol/L], triglyceride [(1.51±1.08) mmol/L vs. (0.98±0.54) mmol/L] and low-density lipoprotein cholesterol [(3.37±0.97) mmol/L vs. (2.97±0.78) mmol/L, all P<0.05]. Multivariate logistic regression analysis showed that BMI (OR=1.314) and triglyceride (OR=1.809) were the independent factors positively associated with NAFLD in RA patients. Conclusion: NAFLD is a common comorbidity in RA patients, especially in those with middle-aged, overweight or obese, which is associated with high BMI or high triglyceride. Screening and management of NAFLD in RA patients especially those with overweight, obese or dyslipidemia should be emphasized.
Adolescent ; Adult ; Aged ; Arthritis, Rheumatoid/epidemiology* ; Cholesterol, LDL ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged ; Non-alcoholic Fatty Liver Disease/epidemiology* ; Obesity/epidemiology* ; Overweight/epidemiology* ; Triglycerides ; Young Adult

BACKGROUNDCancer of the esophagus and gastroesophageal junction remains a virulent malignancy with poor prognosis. Rapid progresses were made in chemotherapeutic agents and the development of molecular markers allowed better identification of candidates for targeted therapy. This study aimed to identify the candidate peptides used for anti-angiogenic therapy of esophageal cancer by in vivo screening C7C peptide library for peptides binding specifically to blood vessels of human esophageal cancer.

METHODSThe phage displayed C7C peptide library was injected intravenously into mice bearing human esophageal tumor xenografts under renal capsule. After 5 rounds of screening, 13 clones were picked up individually and sequenced. During each round of screening, titers of phage recovery were calculated from tumor xenograft and control tissues. Homing of these 9 peptides to tumor vessel was detected by calculating phage titers in the tumor xenograft and control tissues (lung and spleen) after each phage was injected into mice model, and compared with the distribution of phage M13 and VIII-related antigen in tumor xenograft by immunohistochemical staining. Comparisons among groups of data were made using one-way analysis of variance (ANOVA), followed by the Bonferroni multiple comparisons test.

RESULTSThe number of phage recovered from tumor tissue of each round increased gradually in tumor group while decreased in control groups (P < 0.01 in tumor and spleen, P < 0.05 in lung). Immunohistochemical staining showed similar staining pattern with M13 antibody or VIII-related antigen antibody, suggesting that phages displaying the selected peptides could home to blood vessel of human esophageal cancer. According to their DNA, 9 corresponding peptide sequences were deduced. And the homing ability to blood vessel of phages displaying the selected peptides was confirmed by comparing with their recovery in tumor and control tissues. Two motifs, YSXNXW and PXNXXN, were also obtained by analyzing the homology of these peptide sequences. The staining distribution of phage with the sequence of PNPNNST was similar to that of the blood vessel marker factor VIII-related antigen staining. After sequencing, each phage with the selected peptide of PNPNNST with 1.0 × 10(11) pfu/ml was injected intravenously into mice. The homing ability to tumor vessel of these 9 kinds of peptides in the xenograft was higher than control tissues (lung and spleen).

CONCLUSIONNine peptides obtained from in vivo screening homed to the blood vessel of human esophageal cancer, and the two motifs of YSXNXW and PXNXXN are the possible biochemical recognition units binding to vascular endothelial cells of esophageal cancer.

Animals ; Antineoplastic Agents ; therapeutic use ; Endothelial Cells ; drug effects ; Esophageal Neoplasms ; blood supply ; drug therapy ; metabolism ; Humans ; Immunohistochemistry ; Mice ; Mice, Inbred BALB C ; Peptide Library ; Peptides ; therapeutic use

OBJECTIVETo investigate the expression of interleukin-8 (IL-8) and its prognostic significance in breast cancer.

METHODSExpression of IL-8 in 113 breast cancers, 19 breast benign tumors and 20 breast normal tissues was examined by tissue microarray using immunohistochemistry, and the association of IL-8 expression with patient's clinico-pathological characteristics and prognosis was further analyzed.

RESULTSThe positive rate of IL-8 expression in breast cancer was 27.4%, which was significantly higher than that in benign tumor and normal tissue of breast (P = 0.002). IL-8 expression related to histological type (P = 0.040) and lymph node status (P = 0.021). The expression of IL-8 was observed to correlate negatively with ER and PR status (P = 0.015 and P = 0.034), and correlate positively with C-erbB-2 status (P = 0.002). In addition, Kaplan-Meier curves of disease-free survival analysis showed a significant difference between IL-8 positive groups and negative group (P = 0.031).

CONCLUSIONSIL-8 might be a poor prognostic factor for human breast cancer, and also might be a novel molecular marker to predicate the occurrence and progression of breast cancer.

Adult ; Aged ; Aged, 80 and over ; Breast Neoplasms ; diagnosis ; metabolism ; pathology ; Female ; Humans ; Immunohistochemistry ; Interleukin-8 ; biosynthesis ; Lymphatic Metastasis ; Middle Aged ; Prognosis ; Receptor, ErbB-2 ; biosynthesis ; Receptors, Estrogen ; biosynthesis ; Receptors, Progesterone ; biosynthesis

OBJECTIVETo evaluate safety and feasibility of circular staplers in cervical esophagogastrostomy after esophageal cancer resection.

METHODSThe clinical data of patients with esophageal carcinoma were analyzed retrospectively. These patients underwent esophagectomy and cervical esophagogastrostomy with mechanical staplers from August 2009 to April 2011 in the Henan Provincial People's Hospital.

RESULTSA total of 202 patients had the anastomosis performed successfully except for one case who had esophageal tear during anastomosis and required hand-sewn repair. There was no operative mortality. Six patients developed cervical anastomotic leakage after operation, and all were treated conservatively. There was no thoracic anastomotic leakage and other complications related to anastomosis. Two patients had obvious gastroesophageal reflux. After a median of 10.2 months of follow-up, there was no anastomotic stricture.

CONCLUSIONCircular mechanical stapling in cervical esophagogastric anastomosis is a safe and feasible operative procedure.

Adult ; Aged ; Aged, 80 and over ; Anastomosis, Surgical ; instrumentation ; methods ; Esophageal Neoplasms ; surgery ; Esophagectomy ; methods ; Esophagus ; surgery ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Stomach ; surgery ; Sutures

OBJECTIVETo study the impact of organized stroke ward on the therapeutic effect in stroke patients.

METHODSA total of 2637 patients with acute stroke were randomly assigned to organized stroke ward or the general ward for treatment, and the rates of mortality, nonrecovery, improvement, and recovery were compared between the two groups.

RESULTSThe rates of mortality, nonrecovery, improvement, and recovery in 5 years were 2.00%, 0.90%, 74.94% and 22.16% respectively in the organized stroke ward group, as compared to 3.26%, 1.02%, 74.01% and 21.71% in the general ward group, respectively. The mortality rate was significantly lower in organized stroke ward (P<0.05), but no significant difference was found in the rates of nonrecovery, improvement, or recovery between the two groups (P>0.05).

CONCLUSIONAdmission of the stroke patients in organized stroke ward for treatment can be associated with lowered mortality rate.

Female ; Hospital Units ; standards ; Humans ; Intensive Care Units ; Male ; Outcome Assessment (Health Care) ; Patient Care Team ; organization & administration ; Stroke ; mortality ; therapy ; Stroke Rehabilitation ; Survival Rate ; Treatment Outcome

OBJECTIVE: To evaluate the relationship between serum levels of soluble Fas(sFas), soluble Fas li gand(sFasL), soluble IL-2 receptor(sIL-2R) and coronary heart disease (CHD). METHODS: With enzyme-linked immunosorbent assay (ELISA) tests, sFas, sFasL and sIL-2R were measured in the sera from 30 patients with CHD and 26 subjects without CHD as controls. RESTULTS: Mean level of sFas was significantly higher in patients with CHD than in controls [(1 583.41+/-174.46)ng/L compared with (1 374.55+/-142.42)ng/L, P<0.01]. Compared with the controls, the mean level of sIL-2R was significantly higher in patients with CHD [(944.50+/-395.59)ng/L compared with (652.45+/-163.36)ng/L P<0.01]. Moreover, in patients with CHD sFas and sIL-2R were positively correlated (r=0.418 P<0.05). Whereas no such difference was found between both groups in sFasL (P<0.05). CONCLUSION: High levels of serum sFas and sIL-2R were associated with CHD, and elevation of sFas may inhibit apoptosis in activated T cells, leading to coronary events.

OBJECTIVETo investigate the effect of transfection with human soluble vascular endothelial growth factor receptor-1(sFlt-1) gene on cell growth and vascular endothelial growth factor (VEGF) concentration of the culture supernatant in human colon cancer cell line Lovo.

METHODSThe recombinant plasmid pcDNA3-sFlt-1 containing sFlt-1 gene was transfected into Lovo cells by Lipofectamine 2000, which was identified by RT-PCR and ELISA. The effect of sFlt-1 protein on cell growth and VEGF expression in Lovo cells were investigated by MTT and ELISA.

RESULTSThe recombinant plasmid pcDNA3-sFlt-1 was successfully transfected into Lovo cells. The sFlt-1 expression was identified by RT-PCR and ELISA, which inhibited the growth of Lovo cells and reduced the VEGF concentration in the culture supernatant compared with control. The inhibitory rates of proliferation of Lovo cells via MTT assay after 2,14,21 and 28 days were(23.92+/-9.16)%, (13.98+/-10.21)%,(22.54+/-11.92)% and (33.43+/-9.34)% respectively. Compared with the control groups, the differences were significant (P<0.05, P<0.01).

CONCLUSIONTransfection with sFlt-1 gene into Lovo cells results in the expression of sFlt-1 protein, which possesses high biological activity and inhibits the growth of cancer cells.

Cell Line, Tumor ; Genetic Vectors ; Humans ; Transfection ; Vascular Endothelial Growth Factor Receptor-1 ; genetics ; metabolism

OBJECTIVETo compare the efficacy and feasibility of neoadjuvant chemoradiotherapy with docetaxel plus cisplatin or with cisplatin plus fluorouracil in the treatment of local advanced esophageal squamous cell carcinoma.

METHODSA total of 154 cases in the stage of cT3N0-1M0 were randomly assigned to two arms. The arm A received 2 cycles of doctaxel 75 mg/m(2) plus cisplatin 25 mg/m(2) d1-3 and 40 Gy of radiation therapy, and the arm B received 2 cycles of cisplatin 25 mg/m(2) d1-3 plus fluorouracil 600 mg/m(2) d1 ∼ 5 and 40 Gy of radiation therapy. The surgery was performed 3 - 4 weeks later.

RESULTSGrade 3/4 toxicities occurred in 53.2% of the patients in arm A and in 36.4% of the patients in arm B (P = 0.035). Neutropenia occurred in 20.7% of the patients in arm A and 5.6% of the patients in arm B (P = 0.004). Nine patients aborted surgery due to tumor progression. 71 patients underwent resection in 73 cases of the arm A and 69 patients underwent complete resection, 70 patients underwent resection in 72 cases and 70 complete resection of the arm B, respectively (P > 0.05). No mortality was noted. The overall complication rate was similar in the two arms (21.9% vs. 23.6%). Pathological complete response was achieved in 27 patients (35.1%) in the arm A and 16 patients (20.8%) in the arm B (P = 0.048).

CONCLUSIONSNeoadjuvant chemoradiotherapy with docetaxel plus cisplatin can be well tolerated and achieves a higher pathological complete response rate than with cisplatin plus fluorouracil.

Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols ; adverse effects ; therapeutic use ; Carcinoma, Squamous Cell ; pathology ; surgery ; therapy ; Chemoradiotherapy ; Cisplatin ; administration & dosage ; adverse effects ; Esophageal Neoplasms ; pathology ; surgery ; therapy ; Female ; Fluorouracil ; administration & dosage ; adverse effects ; Humans ; Male ; Middle Aged ; Neoadjuvant Therapy ; Neoplasm Staging ; Neutropenia ; chemically induced ; Radiotherapy, High-Energy ; Remission Induction ; Taxoids ; administration & dosage ; adverse effects ; Vomiting ; chemically induced