Prediction and analysis of Q-markers of Elephantopus scaber based on its UPLC fingerprint, content determination of components, and in vitro a nti-tumor activity / 中国中药杂志

This study aimed to provide scientific evidence for predicting quality markers(Q-markers) of Elephantopus scaber by establishing UPLC fingerprint of E. scaber from different geographical origins and determining the content of 13 major components, as well as conducting in vitro anti-cancer activity investigation of the main components. The chromatographic column used was Waters CORTECS UPLC C_(18)(2.1 mm×150 mm, 1.6 μm), and the mobile phase consisted of acetonitrile and 0.1% formic acid solution(gradient elution). The column temperature was set at 30 ℃, and the flow rate was 0.2 mL·min~(-1). The injection volume was 1 μL, and the detection wavelength was 240 nm. The UPLC fingerprint of E. scaber was fitted using the Similarity Evaluation System for Chromatographic Fingerprint of Traditional Chinese Medicine(2012 edition) to determine common peaks, evaluate similarity, identify and determine the content of major components. The CCK-8 assay was used to explore the inhibitory effect of the main components on the proliferation of lung cancer cells. The results showed that in the established UPLC fingerprint of E. scaber, 35 common peaks were identified. Thirteen major components, including neochlorogenic acid(peak 1), chlorogenic acid(peak 2), cryptochlorogenic acid(peak 3), caffeic acid(peak 4), schaftoside(peak 6), galuteolin(peak 9), isochlorogenic acid B(peak 10), isochlorogenic acid A(peak 12), isochlorogenic acid C(peak 18), deoxyelephantopin(peak 28), isodeoxyelephantopin(peak 29), isoscabertopin(peak 31), and scabertopin(peak 32) were identified and quantified, and a quantitative analysis method was established. The results of the in vitro anti-cancer activity study showed that deoxyelephantopin, isodeoxyelephantopin, isoscabertopin, and scabertopin in E. scaber exhibited inhibition rates of lung cancer cell proliferation exceeding 80% at a concentration of 10 μmol·L~(-1), higher than the positive drug paclitaxel. These results indicate that the fingerprint of E. scaber is highly characteristic, and the quantitative analysis method is accurate and stable, providing references for the research on quality standards of E. scaber. Four sesquiterpene lactones in E. scaber show significant anti-cancer activity and can serve as Q-markers for E. scaber.

Endoscopy Artefact Detection by Deep Transfer Learning of Baseline Models.

To visualise the tumours inside the body on a screen, a long and thin tube is inserted with a light source and a camera at the tip to obtain video frames inside organs in endoscopy. However, multiple artefacts exist in these video frames that cause difficulty during the diagnosis of cancers. In this research, deep learning was applied to detect eight kinds of artefacts: specularity, bubbles, saturation, contrast, blood, instrument, blur, and imaging artefacts. Based on transfer learning with pre-trained parameters and fine-tuning, two state-of-the-art methods were applied for detection: faster region-based convolutional neural networks (Faster R-CNN) and EfficientDet. Experiments were implemented on the grand challenge dataset, Endoscopy Artefact Detection and Segmentation (EAD2020). To validate our approach in this study, we used phase I of 2,200 frames and phase II of 331 frames in the original training dataset with ground-truth annotations as training and testing dataset, respectively. Among the tested methods, EfficientDet-D2 achieves a score of 0.2008 (mAPd[Formula: see text]0.6+mIoUd[Formula: see text]0.4) on the dataset that is better than three other baselines: Faster-RCNN, YOLOv3, and RetinaNet, and competitive to the best non-baseline result scored 0.25123 on the leaderboard although our testing was on phase II of 331 frames instead of the original 200 testing frames. Without extra improvement techniques beyond basic neural networks such as test-time augmentation, we showed that a simple baseline could achieve state-of-the-art performance in detecting artefacts in endoscopy. In conclusion, we proposed the combination of EfficientDet-D2 with suitable data augmentation and pre-trained parameters during fine-tuning training to detect the artefacts in endoscopy.

MoNuSAC2020: A Multi-Organ Nuclei Segmentation and Classification Challenge.

Detecting various types of cells in and around the tumor matrix holds a special significance in characterizing the tumor micro-environment for cancer prognostication and research. Automating the tasks of detecting, segmenting, and classifying nuclei can free up the pathologists' time for higher value tasks and reduce errors due to fatigue and subjectivity. To encourage the computer vision research community to develop and test algorithms for these tasks, we prepared a large and diverse dataset of nucleus boundary annotations and class labels. The dataset has over 46,000 nuclei from 37 hospitals, 71 patients, four organs, and four nucleus types. We also organized a challenge around this dataset as a satellite event at the International Symposium on Biomedical Imaging (ISBI) in April 2020. The challenge saw a wide participation from across the world, and the top methods were able to match inter-human concordance for the challenge metric. In this paper, we summarize the dataset and the key findings of the challenge, including the commonalities and differences between the methods developed by various participants. We have released the MoNuSAC2020 dataset to the public.

Research progress on the effect of low concentration atropine on the prevention and control of myopia in children and adolescents among children and adolescents / 中国学校卫生

Abstract@#Myopia is a common refractive error in the process of development. With the high incidence and low age of myopia in children and adolescents, it has become a worldwide public health problem, seriously endangering physical and mental health. The prevention and control of myopia has a long way to go. Low concentration atropine, as an M type choline receptor inhibitor, has been proved by medical research to effectively delay the progress of myopia. This paper reviews the relevant studies at home and abroad in recent years. The optimal concentration of low concentration atropine, the best clinical regimen and possible potential side effects were discussed. From the point of view of school public health, this paper discusses the significance of low concentration atropine for the prevention and control of myopia among school age students, in order to provide a reliable basis and new ideas for the follow up clinical application of atropine and myopia prevention and control strategies for school students.

Finite element optimization analysis of minimally invasive screw treatment for Sanders typeⅡcalcaneal fracture / 中国骨伤

OBJECTIVE@#To explore biomechanical characteristics of minimally invasive different screw fixations in treating Sanders typeⅡcalcaneal fractures.@*METHODS@#Dicom data of calcaneus by CT scan were input into Mimics 21.0 software and Ansys15.0 software to construct three-dimensional finite element digital model of calcaneus;this model was input into UG NX 10.0 software, and calcaneus was cut according to Sanders classification to establish Sanders typeⅡ calcaneus model with posterior articular surface collapse;then simulated minimally invasive screw internal fixation after calcaneal fracture:a screw from posterior articular surface was used to outside-in fix sustentaculum tali, other 4 screws were used to fix calcaneus by different methods through calcaneal tuberosity, and 4 different calcaneal models were obtained. Under the same conditions, 4 types of internal fixation models were loaded respectively, and nonlinear finite element analysis was performed to calculate the stress distribution of different internal fixation models.@*RESULTS@#Under the same condition of loading, the model 3 had smaller displacement value, maximum calcaneus displacement value and maximum equivalent stress value of the screw than other three internal fixation models, and the stress was more dispersed.@*CONCLUSION@#In minimally invasive screw internal fixation of calcaneus fracture, after 1 sustentaculum tali screw fixation, 2 screws crossed fix posterior articular surface from calcaneal tuberosity, 2 screws fix parallelly calcaneocuboid joint from calcaneal tuberosity are more suitable for biomechanical requirements, and could provide basic theory for clinical treatment.

[Seasonal Characteristics and Source Analysis of Water-soluble Inorganic Ions in PM2.5 in Suqian City].

To study the seasonal pollution characteristics and sources of water-soluble inorganic ions in atmospheric PM2.5 in Suqian City, 171 samples were collected at three monitoring points, which were in the water vapor channel, from May 2017 to January 2018. The mass concentrations of PM2.5 and nine water-soluble inorganic ions were analyzed. The results showed that the annual average concentration of water-soluble inorganic ions in PM2.5 in Suqian City was (44.08±34.61) µg ·m-3, accounting for 41.8% of PM2.5. The concentrations of these species were in the order of ρ(NO3-) > ρ(SO42-) > ρ(NH4+) > ρ(ρl-) > ρ(Na+) > ρ(Ca2+) > ρ(K+) > ρ(F-) > ρ(Mg2+); NO3-, SO42-, and NH4+ accounted for 75.6% of the total water-soluble ions. The annual average ratio of ρ(NO3-) to ρ(SO42-) was 1.53±0.88, indicating that mobile sources contributed more to PM2.5 pollution. Based on the correlation analysis of NH4+ and SO42-, NO3- may exist in the form of (NH4)2 SO4, NH4HSO4, or NH4NO3. According to the principal component analysis, secondary transformation, industrial pollution, biomass burning, and dust were the major sources of water-soluble inorganic ions. PM2.5concentrations were positively related to relative humidity in winter. Water vapor transmission is more likely to promote PM2.5 accumulation in winter.

Fetomaternal hemorrhage syndrome in a single fetus in dichorionic diamniotic twin pregnancy: a case report / 中华围产医学杂志

Fetomaternal hemorrhage (FMH) syndrome refers to a group of symptoms, including fetal anemia and maternal hemolytic transfusion reaction caused by fetal blood entering the maternal circulation through intervillous space. Diagnosis of FMH can be easily missed due to its non-specific symptoms and may lead to high perinatal mortality. The degree of fetal anemia and the volume of blood loss can be clinically evaluated by ultrasound measurement of middle cerebral artery peak systolic velocity and Kleihauer-Betke test. Clinical management is based on the degree of fetal anemia and gestational age. Intrauterine blood transfusion and termination are standard management. Fetal-maternal transfusion over 20 ml/kg is associated with fetal/neonatal morbidity or mortality. The incidence of FMH in twin pregnancy is rarely reported. We here report a case of dichorionic diamniotic twin pregnancy. Intrauterine death occurred to one of the twins because of FMH, and the other fetus was delivered at term with good outcome based on close monitoring.

Evaluation of in vitro embryotoxicity tests for Chinese herbal medicines.

Chinese herbal medicines (CHMs) have been widely used during pregnancy, but feto-embryo safety tests are lacking. Here we evaluated in vitro embryotoxicity tests (IVTs) as alternative methods in assessing developmental toxicity of CHMs. Ten CHMs were selected and classified as strongly, weakly and non-embryotoxic. Three well validated IVTs and prediction models (PMs), including embryonic stem cell test (EST), micromass (MM) and whole embryo culture (WEC), were compared. All strongly embryotoxic CHMs were predicted by MM and WEC PM2. While all weakly embryotoxic CHMs were predicted by MM and WEC PM1. All non-embryotoxic CHMs were classified by EST, MM, but over-classified as weakly embryotoxic by WEC PM1. Overall predictivity, precision and accuracy of WEC determined by PM2 were better than EST and MM tests. Compared with validated chemicals, performance of IVTs for CHMs was comparable. So IVTs are adequate to identify and exclude embryotoxic potential of CHMs in this training set.

Application of reverse dermal revascularization combined with vacuum sealing drainage in the large area of skin avulsion of the lower extremities / 中国骨伤

OBJECTIVE@#To summarize the clinical effect of emergency subcutaneous vascular network reverse skin replantation combined with vacuum sealing after drainage of large area skin avulsion injury.@*METHODS@#Clinical data of 30 patients with extensive skin avulsion of the lower limb treated between July 2010 and March 2018 were collected. There were 20 males and 10 females, ranging in age from 16 to 67 years old, with an average of(48±13) years old. Cause of injury: 19 cases of car accident injury, 11 cases of crush injury. The surgery time was 3 to 10 h, with an average of (5±1) h. All cases were completely debrided in stage I. The subdermal vascular network was reversed and skin grafted with multiple incision drainage combined with negative pressure closed drainage technique for 7 to 10 days. The wounds were removed by VSD observation:if the necrotic area is large, debridement is required. After the granulation growth of the wound is satisfactory, the skin grafting is performed again after electrification; the small area of necrotic skin strengthens the dressing and heals.@*RESULTS@#30 patients were followed up for 7 to 48 months, with an average of (20±11) months.No infection in 1 case appeared, 30 patients, living area more than 85% of the wound after treatment survival in the stage I; The skin necrosis ranged from about 12% in 5 patients in the stage II. The second stage was healed after redebriding free skin grafts. The other patients were healed after the dressing, capillary meshwork layer of skin color, good elasticity, feeling, wearable pressure, each joint activities is good, no obvious skin adhesion cause physical activity is limited.@*CONCLUSIONS@#Reverse skin grafting combined with VSD for the treatment of large skin avulsion of lower limb can greatly reduce wound infection rate, promote the application of skin and wound, conducive to drainage, improve the survival rate of reverse skin grafting and improve the function of lower limb joints.

Effect of stereotactic body radiation therapy on the survival of patients with pancreatic cancer recurrence after surgery / 中华胰腺病杂志

Objective To identify the effect of stereotactic body radiation therapy (SBRT) on the survival of patients with recurrent pancreatic cancer after surgery.Methods The data of 104 patients with recurrent pancreatic cancer after surgery who underwent SBRT in the Department of Radiation Oncology of Changhai Hospital,Navy Medical University from February 2012 to December 2016 were retrospectively analyzed.The prescription doses ranged from 35-40 Gy/4-8 f.Survival analysis was performed using the Kaplan-Meier method,and relevant factors affecting patients' survival were screened by the Cox proportional hazards model.Results The median overall survival (OS) and progression free survival (PFS) was 12.5 (11.0-14.0) months and 7.3 (6.0-8.7) months,respectively,while the 1-year rate of OS and PFS was 55.8％ and 22.1％,respectively.Multivariate analysis indicated that tumor stage,biological effect dose (α/β =10,BED10),the decrease of CA19-9 level after treatment,and follow-up chemotherapy were all related factors affecting overall survival;tumor stage,BED10,the degree of pain relief and the decrease of CA19-9 level after treatment were related factors affecting PFS.Conclusions Patients suffering recurrent pancreatic cancer with early tumor stage,normal CA19-9 level and mild pain before treatment could be better treated by SBRT,BED10 ≥60 Gy and follow-up chemotherapy after radiotherapy can prolong the survival of patients.

Influence of stereotactic body radiation therapy on the survival of patients with early stage pancreatic cancer / 中华胰腺病杂志

Objective To evaluate the efficacy of stereotactic body radiation therapy (SBRT) on the survival of patients with early stage pancreatic cancer.Methods The clinical data of 103 T1-2N0M0 pancreatic cancer patients treated by CyberKnife SBRT at the Department of Radiation Oncology of Changhai Hospital from January 2012 to December 2016 was retrospectively analyzed.Kaplan-Meier method was used for survival analysis and Cox proportional hazards model was utilized to identify survival related factors.Results The median overall survival(OS) of T1-2N0M0 pancreatic cancer patients who had unresectable pancreatic cancer or refused surgery was 17.7 (16.1-19.3) months.1-year and 2-year OS rate were 86.3％ and 24.6％,respectively.The median progression free survival(PFS) was 13.0(10.7-15.3) months.1-year and 2-year PFS rate were 54.5％ and 6.3％,respectively.Patients with chemoradiation,BED10 ≥60 Gy and CA19-9 decrease ＞ 50％ after treatment had longer OS and PFS.Conclusions SBRT is a safe and effective treatment for patients with T1-2N0M0 pancreatic cancer.

Influence of combined treatment sequence of stereotactic body radiation therapy and chemotherapy on the survival of very elderly patients with locally advanced pancreatic cancer / 中华胰腺病杂志

Objective To investigated the influence of different combined treatment sequence of stereotactic body radiation therapy (SBRT) and chemotherapy (CT) on the survival of very elderly patients with locally advanced pancreatic cancer ( LAPC) .Methods The data of LAPC patients ≥60 years old treated by CyberKnife SBRT at Shanghai Changhai Hospital from January 2012 to December 2016 was retrospectively analyzed.According to treatment sequences , patients were divided into three groups:CT+SBRT group ( first chemotherapy and then SBRT ) , SBRT+CT group ( first SBRT and then chemotherapy ) and CT+SBRT+CT group ( first chemotherapy , then SBRT and finally chemotherapy ) .Patients were recommended to receive a 6-month chemotherapy .Intravenous administration of 1000 mg/m2 gemcitabine was initiated on day 1, 8, and 15 every 4 weeks or S-1 was orally given at a dose of 80 mg/m2 for 28 days followed by a 14-day rest , which repeated for 6 cycles.Radiotherapy parameters: the median total prescription dose was 36(30-45)Gy; the median per fraction dose was 7(5-9)Gy;the median number of fractions was 5(5-8) fractions;the median biological equivalent dose (BED10) were 61.92(48-85.5) Gy, respectively.The interval between SBRT and chemotherapy ranged from 2 to 3 weeks.Patients were followed every 3 months.The main outcome measures were overall survival ( OS) and median progression free survival ( PFS) .Second outcome measure was adverse events.Common Terminology Criteria for Adverse Events Version 4.0 (CTCAE 4.0) was employed to evaluate adverse events , and RTOG/EORTC was used to assess the adverse events of radiotherapy .Overall survival (OS) and PFS were calculated by Kaplan-Meier method.Univariate and multivariate logistic regression model were used to analyze the independent risk factors .Results A total of 260 patients were enrolled in the study , including 28 patients treated with CT+SBRT, 163 patients undergoing SBRT +CT and 69 patients treated with CT+SBRT+CT.The median OS and PFS were 13.2(95％CI 12.8-13.6)months and 8.2(95％CI 7.7-8.7)months, respectively.OS in CT +SBRT, SBRT +CT and CT +SBRT +CT group was 12.2 (10.9-13.9),13.4 ( 12.9-13.9 ) and 13.1 ( 12.7-13.5 ) months, and the differences were not statistically significant(P=0.425).PFS in CT+SBRT, SBRT+CT and CT+SBRT+CT group was 6.4(5.9-6.9), 8.3(7.8-8.8) and 8.2(7.2-9.2)months, and the differences were statistically significant (P=0.008).In univariate analysis , ECOG, SIRI, the extent of decreased CA 19-9 after treatment and BED 10 were important factors of OS.In multivariate analysis, the CA19-9 response and BED10 were independent factors for OS . Multivariate analysis showed that the extent of decreased CA 19-9 after treatment and BED 10 were important factors of OS.In CT+SBRT group, patients had lower ECOG score (χ2 =115.325,P<0.001) and earlier clinical staging (χ2 =24.788, P<0.001 ).In SBRT +CT group, patients had advanced staging (χ2 =159.759,P<0.001) and lymph node metastasis(χ2 =40.925,P<0.001).Only 1 patient experienced grade 3 radiotherapy associated duodenitis .The adverse events of patients who were first treated by chemotherapy included grade 3 neutropenia in 4 patients and grade 3 gastrointestinal reaction in 5 patients.The adverse events of patients who were first treated by radiotherapy included grade 3 neutropenia or/and leucopenia in 18 patients and grade 3 abdominal pain, nausea or vomit in 16 patients.The adverse events of CT +SBRT+CT patients included grade 3 neutropenia or/and leucopenia in 4 patients and grade 3 abdominal pain or nausea in 5 patients.There was no grade ≥4 adverse events.Conclusions For very elderly patients with LAPC , the survival of patients who received pre-SBRT chemotherapy , post-SBRT chemotherapy and pre-and post-SBRT chemotherapy was comparable , but SBRT+CT group and CT +SBRT+CT group had longer PFS than CT +SBRT group.

Research advances in tumor radiosensitization mediated by topoisomerase inhibitors / 中华放射医学与防护杂志

As anticancer drugs,topoisomerase inhibitors have been widely used in clinical practice,and their radiosensitivity has been gradually recognized.Many topoisomerase inhibitors are currently in pre-clinical and clinical studies.Several studies have shown that some topoisomerase inhibitors may be potential ideal radiosensitizers.However,the physico-chemical properties,toxicity and sensitization effects should be further investigated.

Efficacy and safety of stereotactic body radiation therapy for very elderly patients with pancreatic cancer / 中华胰腺病杂志

Objective To investigate the efficacy and safety of stereotactic body radiation therapy (SBRT) for very elderly patients with pancreatic cancer.Methods The clinical data of a total of 149 patients aged from 75 to 90 years with locally advanced or metastatic pancreatic cancer treated by SBRT in Changhai Hospital from January 2012 to December 2016 were retrospectively reviewed.Prescription doses ranged from 3.6-9Gy/fractions,and the total doses were 19.5-49Gy in 3-8 fractions.The level of serum cancer antigen 19-9(CA19-9) before and 3 months after treatment was compared and the radiotherapy biological effective dose (BED10) was calculated.The adverse events of the radiotherapy were observed.Overall survival (OS) and progression-free survival (PFS) were recorded through follow-up,and the factors influencing the patients' survival were investigated by univariate and multivariate analysis.Results All the patients' median OS and PFS were 12.9and 8.3 months,respectively.One-year OS and PFS rate were 55.9％ and 19.5％,respectively.Tumor stage and the decrease of CA19-9 levels ＞50％ at 3 months after treatment and BED10 were independent factors of OS and PFS.No grade 3 or higher toxicities were recorded in all the patients.Conclusions SBRT is safe and effective for very elderly patients with locally advanced or medically inoperable pancreatic cancer.Tumor stage,the decrease of CA19-9 levels after treatment and BED10 were associated with prognosis.

Organ endangering dose and side effects in two courses of stereotactic body radiation therapy for pancreatic cancer / 中华胰腺病杂志

Objective To assess the cumulative doses and side effects after two courses of stereotactic body radiation therapy (SBRT) for pancreatic cancer. Methods Twenty-four pancreatic cancer patients who received two courses of SBRT were enrolled. Organ endangering dose accumulations were calculated by rigid and non-rigid registration. All doses were recalculated to an equivalent dose of 2 Gy per fraction. Results The median of accumulated maximal dosage (Dmax) and dosage per 1cc(D1cc) of the stomach,duodenum and the bowel were 43.87 and 35.28 Gy 3,35.53 and 26.59 Gy3,45.08 and 36.18 Gy3; and the median volume under the dosage of 10Gy (V10) was 107.40,23.98 and 169.26cc, respectively. The median accumulated Dmaxand the dosage of 35% volume(D0.35) of the spinal cord was 8.42 and 7.83Gy3. The median cumulative Dmeanand D2/3of the left and right kidney were 5.18 and 3.65 Gy3, 3.50 and 2.57 Gy3, respectively. The median cumulative Dmeanand D50%of the liver was 5.18 and 3.64Gy3,respectively. The median summed dose to the overlapping radiation field of the two courses was 93.38 Gy3. No grade 3-4 toxicity occurred. Conclusions The cumulative doses to organs at risk as dose constraints were safe and acceptable,which could be used as a reference to evaluate whether a second SBRT could be done after initial SBRT for pancreatic cancer.

The application of different Auto-shells and optimization steps of CyberKnife treatment plans for pancreatic cancer / 中华胰腺病杂志

Objective To propose the method of dose distribution calculated by one-step optimization with 7 shells (Cao method) and compare with that by three-step optimization with 4 shells (Blanck method) and CyberKnife treatment plans for pancreatic cancer. Methods 20 cases of pancreatic cancer who underwent CyberKnife treatment were retrospectively analyzed,and CT was performed to localize and delineate the target area and endangering organs. Dosage was optimized and evaluated with Blanck method and Cao method. The planning target volume (PTV) conformity index (CI), new conformity index (nCI), homogeneity index (HI),gradient index (GI), coverage, dose-volume and doses to organs at risk were compared. Results Compared with Blanck method, CI (1.11 ± 0.05 vs 1.15 ± 0.05), nCI (1.20 ± 0.06 vs 1.23 ± 0.06), coverage [(92.48 ± 1.85)% vs (93.53 ± 2.15)%], volumes encompassed by 100% and 30% prescription dose line (36.46 ± 16.64 vs 38.19 ± 17.68; 286.19 ± 126.52 vs 320.93 ± 154.82) and monitor unit (56 369 ± 20 019 vs 57 814 ± 20 531) were significantly decreased,while GI was increased (3.22 ± 0.19 vs 3.11 ± 0.19), and all the differences were statistically significant (P<0.05). Additionally, Dmax of the intestine (21.17 ± 2.90 vs 20.63 ± 3.13), D10cc of the stomach (12.78 ± 2.57 vs 13.11 ± 2.43), D5ccof the duodenum (11.01 ± 3.45 vs 11.50 ± 3.25), D10ccof the duodenum (9.30 ± 3.31 vs 9.78 ± 3.07) and D0.35ccof the spinal cord (6.09 ± 0.98 vs 6.59 ± 0.92) were all significantly decreased (P<0.05). No significant differences were found on other parameters. Conclusions Better dose distributions are accessible by one-step optimization with 7 shells in CyberKnife treatment plans for pancreatic cancer.

Detection and Diagnostic Values of JAK2, CALR, MPL Gene Mutations in 208 Cases of BCR/ABL1 Negative Chronic Myeloproliferative Diseases / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To detect the JAK2, CALR and MPL gene mutations in patients with BCR/ABL1 negative chronic myeloproliferative diseases（BCR/ABL1-CMPD）and to evaluate their diagnostic value.</p><p><b>METHODS</b>Two hundred and eight cases of BCR/ABL1-CMPD comprising of 146 cases of essential thrombocythemia（ET）, 37 cases of polycythemia vera（PV）and 25 cases of primary myelofibrosis（PMF）from March 2012 to December 2015 were enrolled in the BCR/ABL1-CMPD, while 124 cases of secondary thrombocythemia and 73 cases of secondary polycythemia were enrolled in the control group. The genomic DNA and total RNA Were isolated from bone marrow or peripheral blood, then the exons 12 to 20 of JAK2 gene, exon 10 of MPL gene and exons 3 to 9 of CALR gene were analyzed by using DNA sequencing.</p><p><b>RESULTS</b>among 146 ET patients, the JAK2, CALR or MPL mutations were found in: 138 cases（94.5%）including 86 cases with JAK2V617F mutation（58.9%）and 2 cases（1.4%）with exon 12 of JAK2 mutations. CALR mutations were detected in 41 cases（28.1%）, among them type 1（c.1092_1143del）in 22 cases, type 2（c.1154_1155insTTGTC）in 11 cases, and type 5（c. 1091_1142del）, type 8（c.1104_1137del）, type 41(c.1107_1137del）, type 42(c.1125_1125del）in one case respectively. In addition, 4 cases were detected withother mutations of the CALR gene（c.1107_1115del, c.1111_1144 del, c.1101 A>C, c.1112_1117del）. Moreover, 9 cases harbored MPL mutations（6.2%）. Secondly, 31 patients were detected with JAK2V617F mutation（83.8%）in 37 cases of PV, and JAK2 exon 12 mutations were found in 2 cases（5.4%）. Besides, CALR mutations were detected in 2 cases（5.4%）, including 1 case of type I, the other of novel mutation of CALR. Thirdly, 19 in 25 cases of PMF were detected with JAK2V617F mutation（76%）, 2 cases with CALR mutations（8%）. 4 patients（16%）, JAK2, CALR or MPL mutations were not detected, but among them 3 cases were found harboring other genetic abnormalities. Fourthly, no mutations of JAK2, MPL and CALR genes were detected in 124 patients with secondary thrombocytosis and 73 cases with secondary polycythemia.</p><p><b>CONCLUSION</b>Combined detection of JAK2, CALR and MPL gene mutations can cover the vast majority of patients with BCR/ABL1-negative myeloproliferative neoplasms. For higher frequencies of the mutations of CALR in ET patients, CALR mutation can be used as a new diagnostic marker in ET patients with JAK2 and MPL wild type.</p>

Association between Q-1 and T1 locus polymorphism in ADAM33 gene and chronic obstructive pulmonary disease in Han population in northern Guizhou / 实用医学杂志

Objective To explore the association between Q-1 and T1 locus polymorphism in ADAM33 gene and chronic obstructive pulmonary disease in Han population in northern Guizhou by detecting Q-1 and T1 locus polymorphism in ADAM33 gene in patients with COPD in the distribution of frequency ,provide a theoretical basis for the prevention and treatment of COPD. Methods Polymerase chain reaction and DNA sequencing tech-nology,electrophoresis separation method were applied to detect Q-1 and T1 locus polymorphism in ADAM33 gene. Results The genotype distribution of Q-1 and T1 locus in the case group and the control group of ADAM33 gene were in accordance with the Hardy-Weinberg equilibrium law and ADAM33 gene Q-1,T1 locus were C and T alleles. There was no significant difference in genotype and allele frequency distribution between the case group with control group,and COPD complicated with chronic respiratory failure(COPD)and hypoxemia(P > 0.05). T1(83 bp,112 bp)at a high probability of two heterozygous in the same samples(18/19),and is located in the encoding region. Conclusion No association was found between Q-1,T1 locus polymorphism in ADAM33 gene and chronic obstructive pulmonary disease in Han population in northern Guizhou.