Characteristics and Clinical Significance of Gene Mutation in Patients with Myelodysplastic Syndrome / 中国实验血液学杂志

OBJECTIVE@#To investigate the characteristics of gene mutations in patients with myelodysplastic syndromes (MDS) and its prognostic significance.@*METHODS@#High-throughput sequencing was used to detect 34 blood tumor-related genes in 210 patients with MDS, and the relationship with the revised International Prognostic Scoring System (IPSS-R) and the impact on prognosis of the patients were analyzed.@*RESULTS@#Among the 210 MDS patients, 142 cases (67.6%) showed mutations, and the first six genes with the highest mutation detection rate were ASXL1(20.5%), TET2(17.1%), U2AF1(14.3%), DNMT3A (11.9%), TP53(10.5%) and RUNX1(10.0%). The gene mutation rate of the patients in IPSS-R relatively high-risk group was higher than those in relatively low-risk group (P=0.001). Both TP53 and BCOR genes showed higher mutation rates in the higher risk group than in the lower risk group (P<0.05). Survival time of the patients in TP53 mutant group was lower than those in non-mutant group (P<0.001), survival time of patients in SF3B1 mutant group was higher than those in non-mutant group (P=0.018). According to the number of gene mutations, the patients could be divided into groups with 0-1, 2 and ≥3 gene mutations, and the median OS of the three groups were not reached, 43 and 27 months, respectively (P=0.004). The Multivariate analysis showed that the increasing number of gene mutations and TP53 mutation was the independent risk factors affecting prognosis of the patients, while SF3B1 mutation was the independent protective factor for the prognosis of the patients.@*CONCLUSION@#The gene mutation rate was higher in MDS patients. And the increasing numbers of gene mutation, TP53 and SF3B1 were the influence factors of prognosis in the patients.

Sex Characteristics and Distribution of External Ear in Uygur Population of Xinjiang / 法医学杂志

Objective To analyze the characteristics of the bilateral external ears of Uygur adults by directly observing the morphological characteristics of the external ears of Uygur adults and classifying each feature. The frequency distribution of the characteristics was calculated to provide reference for forensic identification. Methods The 210 cases （75 males and 135 females） of bilateral external ear photos of Uygur adults in Xinjiang that met the inclusion criteria were collected. The frequencies of the features of the external ear were recorded and distinguished between the two sexes and the different sides. The data were statistically analyzed by SPSS 21.0 statistical software. Results The shapes of the external ears of males and females were commonly oblique or rectangular （34.67% of the left external ear of males and 41.33% of the right were oblique; 30.37% of the left and right external ear of females were rectangular）, while triangular ears were the rare variants and the least common. Sex and bilateral differences were observed as regards the form of the helix in the subjects. Normally rolled helix was the most common （58.67% males and 61.48% females for the left ear; 60.00% males and 72.59% females for the right ear）. Wide covering scapha helix was the most rare for the male left ear and flat helix was the most rare for the female right ear. Square and free earlobes were the most common （49.33% males and 62.96% females for the left ear; 40.00% males and 54.81% females for the right ear）, whereas triangular earlobes were rarely seen. Single knob tragus （40.00% males and 37.78% females for the left ear; 37.33% males and 33.33% females for the right ear） and projection type of Darwin's tubercle （50.67% males and 40.00% females for the left ear; 48.00% males and 39.26% females for the right ear） were found to be common. Conclusion The characteristics of the bilateral external ears of male and female Uygur adults have differences, which can be used for forensic identification.

Effect of Sonic Hedgehog Signal Pathway Inhibitor Jervine on Myelodysplastic Syndromes MUTZ-1 Cells / 中国实验血液学杂志

OBJECTIVE@#To study the effect of SMO inhibitor (Jervine) on proliferation, apoptosis and cell cycle of MDS cell line MUTZ-1, and its mechanism.@*METHODS@#The effect of different concentrations Jervine on proliferation of MUTZ-1 cells was detected by CCK-8 method. Apoptosis and cell cycle of MUTZ-1 cells were detected by flow cytometry. Western blot was used to detect the changes of Shh signaling pathway effecting proteins BCL2 and CyclinD1. The expression levels of Smo and Gli1 gene were detected by real-time fluorescent quantitative polymerase chain reaction (RT-qPCR).@*RESULTS@#Jervine inhibited MUTZ-1 cell proliferation in a concentration dependent manner (24 h, r=-0.977), the apoptosis rate of MUTZ-1 cells increased with the enhancement of concentration of Jervine in MUTZ-1 cells (P＜0.001), the cell proportion of G phase increased and the cell number of S phase decreased with enhancement of concentration (P＜0.001). The result of RT-qPCR and Western blot showed that the expression of Smo, Gli1 mRNA and BCL2, CyclinD1 proteins decreased (P＜0.05).@*CONCLUSION@#SMO inhibitor can effectively inhibit the growth of MDS cell line MUTZ-1 improve the cell apoptosis and induce cell cycle arrest. Its action mechanism may be related with dowm-regulating the expression of BCL2 and CyclinD1.

Research progress of pulse indicated continuous cardiac output in the treatment of elderly patients with heart failure / 中国医师杂志

Along with the further aging of Chinese population,the number of elderly patients with heart failure is mounting rapidly,while hemodynamic monitoring plays an important role in the treatment of elderly patients with complex hemodynamic states and multiple diseases.Pulse indicated continuous cardiac output (PICCO) can quickly,effectively,continuously and safely perform hemodynamic monitoring and guide precise treatment,which is of great practical significance for improving the quality of life,prognosis and prolonging the effective life time of elderly patients with heart failure.This article reviews the characteristics of senile heart failure,the clinical application,safety and characteristics of PICCO.

Peripheral primitive neuroectodermal tumor of the mandible: a case report and literature review / 口腔疾病防治

Objective@# To explore the clinical, imaging and pathological characteristics of mandibular peripheral primitive neuroectodermal tumors, and to review relevant literature to improve the understanding and diagnosis of pPNET in mandible.@* Methods@# The clinical and imaging features, pathological examination, treatment and prognosis of a case of mandibular pPNET diagnosed and treated at the First Affiliated Hospital of Xinjiang Medical University were observed, and analyzed a literature review. @* Results @#The patient′s clinical manifestations were an enlarged mass of the mandible, hard texture, unclear borders, involving loose teeth, and numbness of the lower lip; CT and MRI showed osteolytic and aggressive growth patterns. The mandibular tumor was resected and the mandibular partial truncated resection was performed on the titanium plate. Postoperative pathological sections showed small round cell tumors under HE staining and Vimentin and Fli-1 were positive, and the pathological diagnosis was pPNET. The patient did not undergo chemoradiotherapy after surgery and died of tumor recurrence after 9 months of follow-up. A review of the relevant literature revealed that pPNETs are a group of small round cell tumors, which are more common in children and adolescents. pPNETs have a high degree of malignancy, a short course of disease and fast metastasis. The main route of metastasis is through the blood circulation. Most patients die within 2 years, the 3-year survival rate is only 30%, and the 5-year survival rate is less than 10%. Imaging is generally nonspecific; therefore, pPNETs are easily misdiagnosed. The final tumor type is determined by pathological HE staining and immunohistochemical characteristics. Current treatment methods are mainly complete surgical resection combined with postoperative radiotherapy and chemotherapy, but it is critical to provide individualized treatment to patients when necessary.@*Conclusion@# pPNETs have a high degree of malignancy, easy recurrence and poor prognosis, so early diagnosis and treatment are extremely important.

Research progress of pulse indicated continuous cardiac output in the treatment of elderly patients with heart failure / 中国医师杂志

Along with the further aging of Chinese population, the number of elderly patients with heart failure is mounting rapidly, while hemodynamic monitoring plays an important role in the treatment of elderly patients with complex hemodynamic states and multiple diseases. Pulse indicated continuous cardiac output (PICCO) can quickly, effectively, continuously and safely perform hemodynamic monitoring and guide precise treatment, which is of great practical significance for improving the quality of life, prognosis and prolonging the effective life time of elderly patients with heart failure. This article reviews the characteristics of senile heart failure, the clinical application, safety and characteristics of PICCO.

Detection of LAMP and changes of 1, 3-β-D-glucan in Pneumocystis carinii pneumonia rats / 国际检验医学杂志

Objective To investigate the feasibility of LAMP detection in Pneumocystis carinii pneumonia rats and the changes of 1, 3-β-D-glucan.Methods 40 Wister rats were randomly divided into control group and lung infection group, 20 rats in each group.Specific primers were designed for pneumoniae carinii and LAMP technique was carried out to identify whether the rats were infected or not.The levels of 1, 3-β-D-glucan in peripheral blood and lung lavage fluid were detected by ELISA.Results Compared with the control group, there were 4 dead rats in the lung infection group, the body weight decreased significantly, and the lung weight and the percentage of the lung volume increased significantly (P＜0.05).LAMP method can detect Pneumocystis carinii, the control group was negative.Compared with the control group, the level of 1, 3-β-D-glucan in peripheral blood and lung lavage fluid in the lung infection group increased.And the 1, 3-β-D-glucan level in lung lavage fluid was higher than that in peripheral blood (P＜0.05).Conclusion In this study, we successfully constructed a rat model of Pneumocystis carinii pneumonia and established a simple and rapid method for LAMP detection of Pneumocystis carinii.1, 3-β-D-glucan and Pneumocystis carinii have some relevance.

Characteristics and risk factors of coronary artery disease in Han and Uygur patients with acute myocardial infarction / 中国基层医药

Objective To analyze the characteristics of Han and Uygur patients with acute myocardial infarction (AMI)of coronary artery disease and its risk factors in Kashi area.Methods The clinical data of 98 cases of Han and Uygur 152 cases with AMI (including acute ST segment elevation myocardial infarction and acute non ST segment elevation myocardial infarction)were retrospectively analyzed.And risk factors were analyzed.Results Uygur patients with AMI in hypertension,diabetes,smoking,obesity and Han patients with no significant difference(P >0.05).In Uygur patients with AMI high density lipoprotein cholesterol(HDL -C)was (1.10 ±0.36)mmol/L,which was lower than Han patients (1.41 ±0.53)mmol/L(t =6.701,P 0.05).The level of fibrinogen(FIB)in Uygur AMI patients[(4.02 ±0.84)g/L]was higher than that in Han patients[(3.69 ±0.69)g/L](t =8.420,P =0.004).Uygur patients with acute myocardial infarction coronary angiography showed multiple lesions in the majority, the involvement of blood vessels in the anterior descending branch,there was no significant difference between the Han patients(P =0.713).No obvious abnormal vessels of Han and Uygur AMI patients in coronary angiography showed no statistically significant differences(P =0.003).Conclusion Uygur patients had more history of dyslipidemia,triglyceride and fibrinogen levels were higher than the Han nationality,low density lipoprotein levels were lower than that of the Han nationality.Patients with no obvious lesion in the coronary artery were less than the Han patients.

The expressions of nm-23 and CD44v6 protein in non-small cell lung cancer and their clinical significance / 肿瘤

Objective: To study the expressions of nm23 and CD44v6 proteins in non-small cell lung cancer (NSCLC) and their clinical significance. Methods: Expressions of nm23 and CD44v6 proteins were detected in 58 cases with NSCLC by two-step immunohistochemistry. Results: The overall positive rate of nm23 staining was 87.9% (51/58). There was a significant difference between T1-T2 group and T3-T4 group (P 0.05). Conclusion: The expressions of nm23 and CD44v6 correlated with the tumor size, pathological classification, differentiation degree of NSCLC but had no relation with pTNM stage and lymphnode metastasis.

Diagnostic value and clinical application of CT/HRCT for coal workers' pneumoconiosis with large opacities / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To study the diagnostic value of CT/HRCT for the coal workers' pneumoconiosis (CWP) with large opacities.</p><p><b>METHODS</b>Sixty-two patients with CWP were examined with both chest radiograph and CT/HRCT scan. Comparison was done.</p><p><b>RESULTS</b>Large opacities were found in 19 patients in the chest radiograph of 62 patients with CWP. The detection rate was 30.6%. Thirty large opacities were found using chest radiograph. Forty-three patients with large opacities were found using the CT/HRCT. The detection rate was 69.4%. One hundred and twenty-three large opacities were found using CT/HRCT. Ninety-three more large opacities were found by CT/HRCT than by chest radiograph. The total detection rate of large opacities by CT was 4.1 times than by chest radiograph. Both differences were statistically significant (chi2 = 18.58, P < 0.01). CT/HRCT found all patients with large opacities detected in the chest radiograph. Seventeen patients with Stage III large opacities (>or= 1.0 cm x 2.0 cm) were found by the chest radiograph. The detection rate was 27.4% (17/62). Twenty-seven large opacities were found using chest radiograph. Thirty-four patients with Stage III large opacities were found using the CT/HRCT. The detection rate was 54.8%. The found Stage III large opacities added up to 67. The found Stage III large opacities by CT/HRCT were 40 more than using chest radiograph. Both differences were statistically significant (chi2 = 9.63, P < 0.01). CT/HRCT was reliable to show the morphology, the inside structure, the tiny lesion and the special location of the large opacities of CWP. It could provide more important information for differential diagnosis.</p><p><b>CONCLUSION</b>CT/HRCT is significantly better than the chest radiograph in the diagnosis of complicated CWP. It can find the large opacities that the chest radiograph can not. It has a great diagnostic and practical value as an assistant examination method. CT/HRCT could be considered as the reference and evidence for staging progression in diagnosis of pneumoconiosis.</p>

The diagnostic value and morphologic manifestation of high resolution computerized tomography in coal miner's pneumoconiosis with pleural pathological changes / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To analyse CT and high resolution computerized tomography (HRCT) diagnostic value and morphologic manifestation in coal miner's pneumoconiosis with pleural pathological changes.</p><p><b>METHODS</b>One hundred and thirty-one cases of coal miner patients with pneumoconiosis (0(+) type: 14 cases, type I: 46 cases, type II: 58 cases, type III: 13 cases) and 20 normal people as control group were first examined by routine CT scan at 4 fixed slices, followed by HRCT examination at the region of interest (ROI). Meanwhile, all of them had high-kV chest radiography.</p><p><b>RESULTS</b>According to the national standard of the People's Republic of China in the diagnosis of coal miner's pneumoconiosis with pleural plaque, 68 cases of pleural disease making up 51.91% (68/131) were found (type I accounted for 17.65%, type II 63.24%, type III 19.12%). The morphologic manifestation of pleural pathology by HRCT could be classified into four types: (1) nodular type: 73.38%, (2) flat type: 18.71%, (3) irregular type: 7.91%, (4) mixed type. The pleural pathological changes were found in thoracic wall pleura (65.02%), surface of mediastinum (22.16%), and pericardium (12.80%), but not found in the top of lung and costo-phrenic angles. The thickness of pleura was often about 5 approximately 10 mm (88.17%).</p><p><b>CONCLUSION</b>Pleural pathological changes were not seldom seen in coal miner's pneumoconiosis. HRCT is a reliable examination method aiding routine CT to show pleural pathological changes, thus it has a great diagnostic and practical value. It is necessary to make a further comparison study between pathology and imagology.</p>