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Objective:A rare case of δ-globin gene (HBD) mutation in Guangdong Province was analyzed to provide reference for avoiding misdiagnosis of δ-thalassemia in clinic.Methods:The patient was admitted to Guangdong Maternal and Child Health Hospital, and the peripheral blood sample was collected for hematological phenotypes [mean erythrocyte volume (MCV), mean erythrocyte hemoglobin content (MCH), hemoglobin (Hb)] and Hb typing analysis. The routine deletion and mutation of α-thalassemia and β-thalassemia genes were analyzed by PCR-flow fluorescence hybridization. At the same time, DNA sequencing was used to analyze the type of HBD mutation.Results:The results of hematological phenotypes analysis showed that MCV was 87.9 fl, MCH was 29.3 pg, and Hb content was 140 g/L. The results of Hb typing showed that the contents of Hb F, Hb A 2, Hb A 2 variant, and Hb A were 0.4%, 1.3%, 0.6%, and 97.7%, respectively. No abnormality was found in α-thalassemia and β-thalassemia genes by routine deletion and mutation detection. According to DNA sequencing analysis, the patient had HBD: c.349 C>G variant. Conclusion:The low Hb A 2 content (reference value is 2.5% - 3.5%) in this case is due to the mutation of HBD, HBD: c.349 C>G variant is rare in Chinese population.
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Objective:To analyze the genetic effects of a rare hemoglobin (Hb) H hydrops fetalis [Hb Adana (HBA2: c.179 G>A) complex -- SEA/αα], and provide a reference for clinical diagnosis of non deletion Hb H disease. Methods:Peripheral blood of pregnant women from Medical Genetics Center of Guangdong Maternal and Child Health Hospital and her husbands, fetal umbilical cord blood samples were collected for hematological phenotypes [mean corpuscular volume (MCV), mean corpuscular hemoglobin content (MCH), Hb content] and Hb typing analysis. PCR flow cytometry fluorescence hybridization was used to analyze routine deletions and mutations of α-, β-thalassemia genes, and DNA sequencing was used to analyze mutations.Results:The pregnant women had an MCV of 85.1 fl, MCH of 27.3 pg, and Hb content of 109 g/L; the fetal MCV was 116.3 fl, MCH was 32.6 pg, and Hb content was 28 g/L. Both the pregnant woman and her husband showed no abnormalities in Hb capillary electrophoresis, while the fetus showed Hb Bart's and trace Hb Epsilon4 bands. The results of routine genetic testing for thalassemia showed that the thalassemia genotypes of pregnant women, her husband, and fetus were αα/αα, -- SEA/αα, and -- SEA/αα, respectively. According to DNA sequencing analysis, pregnant women was HBA2: c.179 G>A heterozygous mutation, fetus was HBA2: c.179 G>A mutation. Conclusions:Hydrops fetalis is caused by HBA2: c.179 G>A complex -- SEA/αα. However, this type of mutation is rare in the Chinese population.
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Objective:To establish a model C-GALAD for detecting hepatocellular carcinoma (HCC) from the chronic liver disease and healthy people based on the serum markers.Methods:A clinical cohort including 229 hepatocellular carcinoma patients, 2 317 patients with chronic liver disease and 982 healthy people, was retrospectively collected from eight hospitals or physical examination institutions from April 2018 to October 2020. The data were divided into a training set and a testing set by stratified sampling with a 6∶4 ratio. A predictive model was established on the training set using a logistic backward regression method and validated on the testing set. In addition, clinical data from March to July 2021 in Beijing You′ an Hospital affiliated to Capital Medical University, including 84 patients with liver cancer and 204 patients with chronic liver disease collected were used for external independent validation of the model. The receiver operating characteristic curve (ROC) area under curve (AUC), the sensitivity and the specificity were used to evaluate the effectiveness of the model.Results:Through the logistic backward regression method, the seven signatures including age, gender, alpha-fetoprotein (AFP), alpha-fetoprotein alloplasm-3 ratio (AFP-L3%), des-gamma-carboxyprothrombin(DCP), platelet (PLT) and total bilirubin (TBIL) were selected as risk factors in the detection model. The area under the ROC curve (AUC) of the model on the testing set was 0.954, with an 88.04% sensitivity and a 94.85% specificity, and the AUC of model on the external independent validation set was 0.943, with an 89.29% sensitivity and a 90.2% specificity, which were better than other published models.Conclusion:The C-GALAD Ⅱ model can accurately predict the risk of hepatocellular carcinoma occurrence, and thus provide a trustworthy diagnosis method of hepatocellular carcinoma.
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Objective To investigate the potential dosimetric advantages of half jaw volumetric modulated arc therapy ( H-VMAT) applied to the Oropharyngeal Cancer, comparing with full jaw VMAT (F-VMAT) and intensity modulated radiotherapy ( IMRT ). Methods Planning CT images of 10 oropharyngeal cancer patients were retrospectively chosen and transferred to Eclipse treatment planning system v. 11. 0 (Varian Medical Systems, Pala Alto, USA), based on which H-VMAT, W-VMAT, and IMRT plans were created. Two full arcs (360°) were adopted for VMAT planning, and the 7 beams were equally distributed for IMRT planning. The optimization constraints remained the same for the three kinds of plans. The dosimetric parameters such as D2 , D98 , D50 , HI, and CI were evaluated for PGTV, PCTV1, PCTV2, PGTVln, and PCTVln. In addition, the maximum dose (Dmax) and D1 cc(minimum dose received by 1cc) of the brainstem and spinal cord were analyzed respectively. The mean dose ( Dmean ) to the parotids, oral cave, larynx, and cervical normal tissues were also reviewed. The monitor units ( MU) for all treatment plans were recorded. Results Comparisons of the three planning techniques showed that H-VAMT improved the HI and CI of the targets (except PCTV2) significantly (HI: F =3. 959, 6. 764, 10. 581, 6. 770, 13. 040, P<0. 05;CI:F=6. 594, 4. 138, 0. 842, 4. 031, 5. 388, P<0. 05);reduced Dmax(F=4. 509, 20. 331, P<0. 05) and D1 cc for brainstem and spinal cord (F=27. 432, 26. 314, P<0. 05) significantly;reduced Dmean(F=4. 279, 29. 498, 19. 295, P<0. 05) to the normal tissues of the mouth, throat and neck significantly. The V50 of the mouth and throat were slightly lower in IMRT plans (F=8. 140, P<0. 05). IMRT was slightly better than W-VMAT in sparing oral cavity and larynx, but the dose distribution was the worst. The H-VMAT plans showed the best dose distribution in the cervical normal tissues, especially for the lower and posterior parts, where IMRT plans displayed high dose curves. Conclusions H-VMAT is dosimetrically superior than W-VMAT and IMRT for oropharyngeal cancer, which could be considered for clinical applications.
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Objective To evaluate the feasibility of the three-dimensional brain artery vessel wall imaging technology reverse rotation angle of fast spin echo (T1 W-SPACE)in the diagnosis of ischemic cerebrovascular disease by comparing it with TOF vascular imaging in magnetic resonance. Methods Patients undergoing stroke but stable condition,including 50,patients with transient cerebral ischemia (TIA)or a history of stroke,examined by TOF-MRA and routine MRI sequence first,then followed by T1 W-SPACE.Results In 43 of 50 cases,conventional MRI sequences detectiog was positive,TOF-MRA found the vascular stenosis in 76 branches,T1 W-SPACE found the vascular stenosis in 73 branches,there was no difference between the two groups(χ2 =0.625,P >0.05);Conventional TOF-MRA cannot detect the vascular wall, T1 W-SPACE found that arterial wall thickening,plaque in 48 branches.Conclusion Compared with the TOF-MRA,T1 W-SPACE can not only detect the vessel stenosis,but also the vessel wall and plaque,and can also type on plaque from pathology angle,has im-portant clinical significance for early prevention and treatment of stroke.
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Objective To explore the value of E-flow technique in ultrasound examination of fetal pulmonary vein.Methods The pulmonary veins of 332 fetus were examined using lungs as acoustic window by two-dimensional echocardiography(2DE), color Doppler flow imaging (CDFI) and E-flow.Visualization ratios of the three methods were compared.Results The fetal pulmonary veins were displayed as following:7 cases were showed by 2DE,49 cases by CDFI and 73 cases by E-flow among 118 cases during 12 - 22 gestational weeks.The visualization ratio of E-flow was higher than that of the other two methods (P ＜0.001).Fourty-one cases were showed by 2DE, 171 cases by CDFI and 177 cases by E-flow among 214 cases during 23 - 40 gestational weeks.The visualization ratios of E-flow and CDFI were higher than that of 2DE (P ＜ 0.001).The visualization ratio of E-flow and CDFI has no distinct differrence (P ＞ 0.0167).Conclusions E-flow was sensitive to pulmonary vein blood flow and better than 2DE and CDFI in early stage of the second trimester.
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Objective To investigate the reasons of artifacts in 64-slice spiral CT coronary angiography.Methods One hundred patients with diagnosed or suspected coronary artery disease underwent retrospectively ECG-gated 64-slice spiral CT coronary angiogruphy.Maximum intensity projection(MIP),muhiplanar reformation(MPR)and volume rendering technique(VRT)were reconstructed.The reasons of artifacts were assessed by two experienced radiologists.Results A total of 1347 segments(1347/1500,89.8%)were reviewed,the artifacts were found in 192 segments(14.2%).Breath movement was the moat common artifact(124/192).and the other reasons included fast rate and irregular rhythm of the heart beat (42/192).while the phase mismatch was the third reason(22/192).Conclusions The common artifacts of 64-slice spiral CT coronary angiography includes breath movement,fast rate and irregular rhythm of heart beat and phage mismatch.Breath-holding control,low rate and regular rhythm of heart beat,muhiphage reconstruction are suggested for the accurate diagnosis.
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Objective To explore the value of angiographic diagnosis and interventional therapy of severe gastrointestinal bleeding.Methods 33 patients in a critically ill state(1000ml of bleeding greater than alimentary canal),who could not or were not willing to go fibre gastroscope/intestines ytterbium checks,were diagnosed by selectivie or surpass-selectivie stomach-bowel angiography,and embolismed or poured into by the surpass-selection artery art after the bleeding artery definiting at the same time.Results The selective stomach-bowel artery radiography group identified 27 patients site of bleeding,the masculine rate was 82%.The surpass-selectivie stomach-bowel artery radiography group identified 31 patients site of bleeding,the masculine rate was 94%.2 patients had no abnormality,26 patients were cured by the embolism,7 patients were treated successfully by pouring into the pharmaceuticals.Among them 8 patients were bleeding again,4 patients were cured through the surgical operation without complication.Conclusions DSA surpass-selectivie stomach-bowel artery radiography can define the site of severe gastrointestinal bleeding and raise the hemorrhage kitchen range recall rate,the embolism can successfully control the bleeding.Throughout the pouring into the pharmaceuticals,those who can't be treated by embolism can save time for the surgical operation,make part of patient cure further gaining time for the surgical operation.
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Objective To measure the angle and distance between superior mesenteric artery (SMA) and abdominal aorta (AA) at the level of left renal vein and duodenum in Chinese.Methods The angle and distance between SMA and AA were measured in 41 patients with normal CT findings in the supine position using 16 slices multislice spiral CT(MSCT)scanner.Results The average angle of 41 normal cases was 47.4??18.3? (mean?SD), and 3 of 41 (7.3%)≤15?,10 of 41 (24.4%)≥70?. At the level of left renal vein and duodenum, the average distance between SMA and AA were (1.3?0.4) cm and (1.4?0.4) cm respectively.Conclusion MSCT allows accurately measure the angle and distance between SMA and AA, it shows significance in the diagnosis of SMA syndrome and nutcracker phenomenon.
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Objective To investigate the diagnostic value of MSCT with multi-planar reconstruction(MPR)and maximum intensity projection(MIP)in diagnosis of spinal burst fracture.Methods 45 patients(53 vertebras)with vertebral burst fracture were examined by MSCT and processed with MPR and MIP.The imaging features were analyzed comparatively.Results The axial images clearly demonstrated the vertebral body vertically or transversely burst crack in 49 vertebras(92.5%),bony fragment inserted into the spinal canal and stenosis of spinal canal in 34 vertebras(64.2%).The sagittal images showed kyphosis in 28 vertebras(62.2%).The sagittal and coronal images showed decreased height of the vertebral body in 37 vertebras(69.8%)and depressed fracture of vertebral end plate in 19 vertebras(35.8%).Total 44 fractures were located at spinal appendix,39 were showed by axial images,35 by sagittal images and 33 by coronal images.MIP displayed the space changes of bone structures in all cases and rotary dislocation fracture in 6 cases(11.3%).Conclusion MPR and MIP are of significant values in diagnosis and clinical treatment of spinal burst fracture.