Objective To investigate the effect on ubiquitin-dependent autophagic pathway in macrophage(MΦ) infected by B.suis S1330 attenuated strains.Methods Infected MΦ in vitro using Brucella S1330 strains to construct experimental model.Observed the process of phagocytic,the level of ubiquitination and autophagy in MΦ of mice.MΦ was divided into control group,infected group,positive control group and infected group after RAPA induced autophagy.The Giemsa staining immunofluorescence and Western blot were applied to observe the chances of ubiquitinated and autophagic protein in MΦ at different time points within different groups.Results Ubiquitinated bacterial protein was detected at 0.5 h after infected MΦ.With the time passing,the ubiquitinated bacterial protein increased and aggregated intracellular until MΦ dead at 12 h after infected.The expression of LC3B protein was serious deficiency in MΦ which infected group,but ubiquitinated bacterial protein decreased significantly in MΦ after RAPA induced.Conclusion Brucella S1330 stain can arouse intracellular ubiquitination process in infected MΦ,and interfere the ubiquitin-dependent autophagic pathway.A large number of aggregated and ubiquitinated bacterial protein can not be effectively removed,it leads to MΦ dysfunction and dead.

Objective To investigate the source of the blood flow through ventricular septum in normal subject caused by slice-thickness artifact in echocardiography. Methods Echocardiography was performed in 50 normal subjects without ventricular septum defect by two models of echocardiography unit equipped with two models of transducer, observing the conditions and sections in which the blood flow through ventricular septum could be detected. Results The blood flow through ventricular septum was detected in 8 normal subjects using the certain model of echocardiography unit,especially in parasternal four chambers section and parasternal irregular sections, while the blood flow through ventricular septum wasn't detected in the other 42 subjects by any echocardiography unit. The blood flow through ventricular septum was caused by coronary vessel in atrioventrieular groove proved by combining dynamic observation with anatomy analysis. Conclusions The blood flow through ventricular septum in normal subjects, a kind of slice-thickness artifact in echocardiography,is caused by coronary vessel in atrioventricular groove mapped into intact ventricular septum.

Purpose:To explore the methods of diagnosis and treatment for multiple endocrine neoplasia type Ⅱb.Methods:One case of MEN-Ⅱb was reported. The clinical features, diagnosis and treatment of MEN-Ⅱb was reviewed and presented. Domestic investigation was carried out.Results:The diagnosis was established on B-ultrasonography and CT scanning, and the patient was cured by operation and convalesced freely. Other patient was found in this family.Conclusions:MEN-Ⅱb has been rare. The necessary checks of endocrine, imaging, domestic investigation are very important in earlier diagnosis. It is effective to remove the tumor by surgery.

Objective To investigate the clinical and pathological features of patients with colorectal lesions, which could be the basis for clinical diagnosis and treatment of early colorectal cancer. Methods The clinical ( including gender, age, size, location, morphology, and number ) and pathological characteristics of colorectal lesions were discussed based on the results of colorectal cancer screening in more than 320000 people of 40-74 years in Haining from 2007 to 2012. Results Screening of 286470 cases were completed with the compliance rate of 88. 96％. Colonoscopy was performed in 29069 cases, and 7408 lesions were detected with detection rate of 25. 48％. The detection rate was 32. 62％ for men and 19. 48％ for women ( P<0. 001 ) , and 18. 30％ in 40-49 age group and 35. 06％ in 70-74 age group. The older the patients, the higher the detection rate ( P<0. 001) . Among the 7408 lesions, left colonic lesions accounted for 69. 40％, multiple lesions accounted for 37. 23％, lesions with diameter>1. 0 cm accounted for 19. 60％. A total of 205 cases of colorectal cancer ( including 161 early carcinoma and 44 advanced carcinoma) , and 1365 cases of advanced adenoma were found. The early diagnosis rate was 97. 20％. Among the 5030 lesions underwent treatment, adenomatous and carcinomatous types accounted for the largest proportion ( 63. 00％) . The canceration rate of lesions with diameter >1. 5 cm was 34. 08％. Conclusion In high-risk populations, men have a higher detection rate of colorectal lesion than female. The older the age, the higher the detection rate. Adenoma account for the highest proportion among different pathologic types.

Objective To explore the effect of postoperative pain and complications in patients with health education for senile fracture characteristics of traditional Chinese medicine. Methods A retrospective analysis was performed on the clinical data of 98 cases of senile fracture patients in our hospital from October 2013 to October 2014,and were divided into control group (50 cases) and observation group (50 cases),and were given characteristics of traditional Chinese medicine health education and routine nursing care.The total effective rate,pain score,the incidence of com-plications of the two groups were observed and compared. Results The total effective rate of the observation group was significantly higher than that of control group(P<0.05).The pain score of observe group was significantly lower than that of control group (P<0.05);the incidence rate of complications of observation group was significantly lower than that of control group (P<0.05). Conclusion The implementation of patients before treatment,after treatment of senile fracture characteristics of traditional Chinese medicine and rehabilitation period of the full range of health education, can ef-fectively alleviate the effect of postoperative pain,and reduce the complication rate of reduction.

Objective To observe the hematological toxicity of 89SrCl2 in patients with multiple bone metastases of malignant tumors,and analyze the related-risk factors.Methods A total of 89 patients (63 males,26 females;age:(62.3±5.2) years) with multiple bone metastases and treated with 89SrCl2 were enrolled.Hematological data at 2 and 4 weeks after treatment with 89SrCl2 were analyzed.Common Terminology Criteria for Adverse Events (CTCAE) v4.03 was used to evaluate the hematological toxicity,and the influencing risk factors were analyzed.Logistic regression analysis was used to analyze the data.Results The incidences of grade Ⅰ-Ⅱ anemia,leukopenia and thrombocytopania at 2 and 4 weeks after treatment were 15.7％(14/89),18.0％(16/89),11.2％(10/89) and 18.0％(16/89),24.7％(22/89),18.0％(16/89),respectively.The incidences of grade Ⅲ-Ⅳ anemia,leukopenia and thrombocytopenia were 2.2％(2/89),0,0 and 2.2％(2/89),2.2％(2/89),3.4％％(3/89),respectively.Logistics multivariate analysis showed that the number of bone metastases and the Hb level before treatment were independent effect factors for hematological toxicity of 89SrCl2,with odds ratio (OR) values of 2.200(95％ CI:1.269-3.841) and 0.961 (95％ CI:0.932-0.991),respectively.Conclusions Serious hematological toxicity after 89SrCl2 treatment is rare.The number of bone metastases and the Hb level before treatment are independent effect factors for hematological toxicity.

OBJECTIVE: To delineate the clinical and genetic features of a fetus with micrognathia, low-set ears, microtia, polyhydramnios and anechoic stomach by ultrasonography. METHODS: Whole exome sequencing (WES) was carried out to detect genetic variant in the fetus, for which routine chromosomal karyotyping and chromosomal microarray analysis (CMA) yielded no positive finding. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: WES revealed that the fetus has carried a de novo nonsense c.2302C>T (p.Q768X) variant in exon 23 of the EFTUD2 gene, which was detected in neither parent. The variant was unreported previously and may lead to premature termination of the translation of EFTUD2 protein at the 768th amino acid. Bioinformatic analysis predicted the amino acid to be highly conserved and may alter the structure and function of the EFTUD2 protein. CONCLUSION The c.2302C>T variant of the EFTUD2 gene probably underlay the mandibulofacial dysostosis Guion-Almeida type in the fetus. Discovery of the novel variant has enriched variant spectrum of the EFTUD2 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
Female ; Fetus ; Humans ; Mandibulofacial Dysostosis/genetics* ; Mutation ; Peptide Elongation Factors/genetics* ; Phenotype ; Pregnancy ; Ribonucleoprotein, U5 Small Nuclear/genetics*

OBJECTIVE: To explore the genetic etiology for a fetus with hydrocephalus and intraventricular hemorrhage. METHODS: Trio whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing of the fetus and its parents. RESULTS: The fetus was found to harbor c.818G>A (p.W273X) and c.833T>C (p.L278P) compound heterozygous variants of the PROC gene, which were respectively inherited from its mother and father. Based on the guidelines of the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PVS1_Strong+PM2_Supporting+PP4; PM2_Supporting+PM3+PP1+PP3+PP4). CONCLUSION The fetus was diagnosed with Protein C deficiency due to the c.818G>A (p.W273X) and c.833T>C (p.L278P) compound heterozygous variants of the PROC gene. Above finding has enriched the spectrum of PROC gene variants and enabled genetic counseling and prenatal diagnosis for the family.
Female ; Pregnancy ; Humans ; Protein C Deficiency ; Fetus ; Genetic Counseling ; Genomics ; Hydrocephalus/genetics* ; Mutation

Objective:To quantitate the association between birth weight and phenotypes of physical indicators in adulthood, i.e. BMI and waist circumference (WC) and to what degree genetic or environmental factors affect birth weight-obesity association.Methods:A total of 6 623 gender matched twin pairs aged 25 to 79 years were recruited through the Chinese National Twin Registry. The twins reported their own birth weight, current height and weight, and WC using a self-administered questionnaire. BMI was calculated according to the self-reports of body height and weight. Within twin-pair design was used to quantitate the association between birth weight and phenotypes related to obesity while bivariate structural equation models were used to decompose the phenotype correlation.Results:After adjusted for multiple factors, twin-pair analyses within monozygotic (MZ) showed that, on average, a 1.0 kg increase in birth weight corresponded to an increase of 0.33 kg/m 2 in BMI and 0.95 cm in WC in adulthood ( P<0.001). Bivariate structural equation models showed significant positive unique environmental correlation between birth weight and the two obesity-related phenotypes. Conclusion:The study supported the role of twin-specific supply line factors on relationship between birth weight and physical indicators in adulthood.

Objective:To describe the differences in body mass index (BMI) distribution in adult twins registered in Chinese National Twin Registry (CNTR), and provide evidence for the risk factor analysis and prevention and control of overweight or obesity.Methods:A total of 32 725 twin pairs aged 18 years and above who completed the questionnaire survey during 2010-2018 and had complete registered information in CNTR and normal body weight and length were included in the analysis on the population and region specific distributions of BMI of twin pairs and the difference in BMI in twin pairs.Results:The twin pairs included in the analysis were aged (34.6±12.4) years, the twin pairs of same gender accounted for 79.7%. The average BMI was 22.5 kg/m 2. The overall prevalence of obesity and overweight was 4.9% and 23.7%, respectively. Participants who were men, 50-59 years old, married, had lower education level, and lived in northern China had higher overweight rate and obesity rate ( P<0.001). The difference in overweight or obesity prevalence between monozygotic (MZ) twin pars and dizygotic (DZ) twin pairs was not significant, but firstborn twin pairs had slightly higher rates of overweight and obesity than later-born twin pairs ( P<0.05). The analysis in same gender-twin pairs indicated that the difference in BMI was associated with age (trend test: P<0.001), and the difference was more obvious in DZ twin pair in MZ pair and this difference increased with age. The concordant rate of BMI was higher in MZ twin pairs than DZ twin pairs ( P<0.05). Conclusion:The distribution of BMI of twin pairs varied with population and region and BMI varied with age due to its genetic nature.