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

Objective： The current study was designed to assess the clinical value of heteromorphic enhanced vessel sign in the thin section CT images in diagnosis and distinguished diagnosis for small lung cancer. Methods： A total of 37 distinguished small peripheral lung cancer with less than 3 cm diameter were compared between enhanced thin section CT and conventional enhanced CT. At the same time,18 pulmonary inflammatory pseudotumors and pulmonary tuberculomas required distinguished have been studied as control. The enhanced thin section CT images of the three kinds of diseases were investigated. Results： 1.The enhanced thin section CT scan apparently showed the special signs (heteromorphic enhanced vessel signs) of the tumor vessel in small lung cancer, which was rarely displayed on conventional CT images. 2.The heteromorphic enhanced vessel sign was rarely found in pulmonary inflammatory pseudotumor and pulmonary tuberculoma. Conclusion： The heteromorphic enhanced vessel sign is a valuable CT characteristic for diagnosis and distinguishing diagnosis for small lung carcinoma.

Objective: To identify the maximum tolerated dose (MTD) of docetaxel combined with a fixed dose of cisplatin (75 mg/m 2 ) delivered as hyperthermic intraperitoneal chemotherapy (HIPEC) in patients with ovarian cancer. Methods: In this phase I trial, a time-to-event Bayesian optimal interval design was used.Docetaxel was given at a starting dose of 60 mg/m2 and was increased in 5 mg/m2 increments until the MTD was determined or the maximum dose level of 75 mg/m2 was reached. The doselimiting toxicity (DLT) rate was set at 25%, with a total sample size of 30 patients. HIPEC was delivered immediately following debulking surgery at a target temperature of 43°C for 90 minutes. Results: From August 2022 to November 2022, 30 patients were enrolled. Among the patients who received a dose of docetaxel ≤65 mg/m2 , no DLT was reported. DLTs were observed in one patient who received 70 mg/m2 docetaxel (grade 3 anaemia) and in three patients who received 75 mg/m2 docetaxel (one case of grade 3 anaemia, one case of grade 3 hepatic impairment and one case of grade 4 thrombocytopenia). Patients treated with docetaxel 75 mg/m2 in combination with cisplatin 75 mg/m2 had an estimated DLT rate of 25%, which was the closest to the target DLT rate and was therefore chosen as the MTD. Conclusion Docetaxel, in combination with a fixed dose of cisplatin (75 mg/m2), can be used safely at intraperitoneal doses of 75 mg/m2 in ovarian cancer patients who received HIPEC (43°C, 90 minutes) following debulking surgery.

Objective: To identify the maximum tolerated dose (MTD) of docetaxel combined with a fixed dose of cisplatin (75 mg/m 2 ) delivered as hyperthermic intraperitoneal chemotherapy (HIPEC) in patients with ovarian cancer. Methods: In this phase I trial, a time-to-event Bayesian optimal interval design was used.Docetaxel was given at a starting dose of 60 mg/m2 and was increased in 5 mg/m2 increments until the MTD was determined or the maximum dose level of 75 mg/m2 was reached. The doselimiting toxicity (DLT) rate was set at 25%, with a total sample size of 30 patients. HIPEC was delivered immediately following debulking surgery at a target temperature of 43°C for 90 minutes. Results: From August 2022 to November 2022, 30 patients were enrolled. Among the patients who received a dose of docetaxel ≤65 mg/m2 , no DLT was reported. DLTs were observed in one patient who received 70 mg/m2 docetaxel (grade 3 anaemia) and in three patients who received 75 mg/m2 docetaxel (one case of grade 3 anaemia, one case of grade 3 hepatic impairment and one case of grade 4 thrombocytopenia). Patients treated with docetaxel 75 mg/m2 in combination with cisplatin 75 mg/m2 had an estimated DLT rate of 25%, which was the closest to the target DLT rate and was therefore chosen as the MTD. Conclusion Docetaxel, in combination with a fixed dose of cisplatin (75 mg/m2), can be used safely at intraperitoneal doses of 75 mg/m2 in ovarian cancer patients who received HIPEC (43°C, 90 minutes) following debulking surgery.

Objective: To identify the maximum tolerated dose (MTD) of docetaxel combined with a fixed dose of cisplatin (75 mg/m 2 ) delivered as hyperthermic intraperitoneal chemotherapy (HIPEC) in patients with ovarian cancer. Methods: In this phase I trial, a time-to-event Bayesian optimal interval design was used.Docetaxel was given at a starting dose of 60 mg/m2 and was increased in 5 mg/m2 increments until the MTD was determined or the maximum dose level of 75 mg/m2 was reached. The doselimiting toxicity (DLT) rate was set at 25%, with a total sample size of 30 patients. HIPEC was delivered immediately following debulking surgery at a target temperature of 43°C for 90 minutes. Results: From August 2022 to November 2022, 30 patients were enrolled. Among the patients who received a dose of docetaxel ≤65 mg/m2 , no DLT was reported. DLTs were observed in one patient who received 70 mg/m2 docetaxel (grade 3 anaemia) and in three patients who received 75 mg/m2 docetaxel (one case of grade 3 anaemia, one case of grade 3 hepatic impairment and one case of grade 4 thrombocytopenia). Patients treated with docetaxel 75 mg/m2 in combination with cisplatin 75 mg/m2 had an estimated DLT rate of 25%, which was the closest to the target DLT rate and was therefore chosen as the MTD. Conclusion Docetaxel, in combination with a fixed dose of cisplatin (75 mg/m2), can be used safely at intraperitoneal doses of 75 mg/m2 in ovarian cancer patients who received HIPEC (43°C, 90 minutes) following debulking surgery.

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 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

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