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<p><b>OBJECTIVE</b>To explore the genetic basis for a neonate with bloody stool and thrombocytopenia.</p><p><b>METHODS</b>Clinical data of the neonate was collected. Peripheral venous blood samples were extracted from the neonate and his parents. Next generation sequencing through target capturing was carried out to detect potential mutations of genes associated with thrombocytopenia. Suspected mutation was validated by Sanger sequencing.</p><p><b>RESULTS</b>The 14-day-old male neonate was admitted to hospital for bloody stool for 8 days, decreased platelet count and reduced platelet volume. His liver function and blood coagulation were both normal. Genetic testing revealed a novel deletional mutation in c.1221delG (G407fsX444) of the WAS gene in the patient, which was inherited from his mother.</p><p><b>CONCLUSION</b>The c.1221delG (G407fsX444) mutation of the WAS gene probably underlies the X-linked thrombocytopenia in the proband. Next generation sequencing can facilitate the diagnose and genetic counseling of such diseases.</p>
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Objective To investigate the effects of endothelial cell, neutrophil and platelet activation on the development and thrombophilia of malignant lymphoma. Methods The levels of cell activating factors soluble thrombomodulin (sTM) in 40 patients with malignant lymphoma and 30 healthy controls in Jiangdu People ''s Hospital of Yangzhou from October 2009 to November 2016 were tested by enzyme linked immunoabsorbent assay (ELISA). The flow cytometry (FCM) method was used to measure the level of CD11b on the surface of anti-freezing whole blood neutrophil and CD62p on the surface of platelet. The results were analyzed by ANOVA and LSD-t test. Results The level of sTM in patients with malignant lymphoma before treatment was significantly higher than that after treatment and in the control group [(49.7±9.3) ng/ml vs. (6.3± 1.8) ng/ml, (5.6±1.5) ng/ml respectively;F=736.633, P=0.000]. There were significant differences between the levels before and after treatment and before treatment and in the control group (t= 33.789, P= 0.000;t=31.782, P=0.000). The average fluorescence intensity (MFI) of neutrophil surface CD11b in patients with malignant lymphoma before treatment was significantly higher than that after treatment and in the control group (184 ± 43 vs. 118 ± 12, 112 ± 15 respectively; F=101.845, P=0.000). There were significant differences between the levels before and after treatment and before treatment and in the control group (t=12.228, P= 0.000; t= 12.184, P= 0.000). The level of platelet surface CD62p in patients with malignant lymphoma before treatment was significantly higher than that after treatment and in the control group [(6.4 ± 2.4) ％ vs. (1.2 ± 0.7) ％, (1.3 ± 0.5) ％ respectively; F= 141.481, P= 0.000]. There were significant differences between the levels before and after treatment and before treatment and in the control group (t=15.010, P= 0.000; t= 13.679, P= 0.000). Conclusions The levels of cell activating factors might be correlated with the progression of malignant lymphoma. Furthermore, endothelial cell, neutrophil and platelet activation have accelerated the development of malignant lymphoma, and the interaction among them may result in the prethrombotic state.
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The phase information of magnetic resonance (MR) phase image can be used in many MR imaging techniques, but phase wrapping of the images often results in inaccurate phase information and phase unwrapping is essential for MR imaging techniques. In this paper we analyze the causes of errors in phase unwrapping with the commonly used Goldstein Brunch-cut algorithm and propose an improved algorithm. During the unwrapping process, masking, filtering, dipole- remover preprocessor, and the Prim algorithm of the minimum spanning tree were introduced to optimize the residues essential for the Goldstein Brunch-cut algorithm. Experimental results showed that the residues, branch-cuts and continuous unwrapped phase surface were efficiently reduced and the quality of MR phase images was obviously improved with the proposed method.
Subject(s)
Algorithms , Magnetic Resonance Imaging , MethodsABSTRACT
<p><b>OBJECTIVE</b>To establish the method for quantitative determination of sibricose A5 and sibricose A6 in Polygalae Radix by HPLC.</p><p><b>METHOD</b>The ultrasonic extracting method was applied in sample pre-treatment. The HPLC procedure was performed on the chromatographic column of Agela Promosil C18 (4.6 mm x 250 mm, 5 microm), the mobile phase was acetonitrile-0.1% phosphoric acid water solution (10:90). The detection wavelength was 330 nm and flow velocity was 1 mL x min(-1). The column temperature was 30 degrees C.</p><p><b>RESULT</b>The method has good linearity in the ranges of 0.0087-0.0694 g x L(-1) (r = 0.9993) for sibricose A5, 0.0090-0.0723 g x L(-1) (r=0.9991) for sibricose A6. The average recoveries of sibricose A5 and sibricose A6 were 101.7%, 97.87%, with the RSD of 1.7%, 1.6%, respectively.</p><p><b>CONCLUSION</b>The method was simple, quick accurate and reliable. It is appropriate for the quantitative determination of sibricose A5 and sibricose A6 in Polygalae Radix.</p>
Subject(s)
Chromatography, High Pressure Liquid , Drugs, Chinese Herbal , Chemistry , Polygala , Chemistry , Polysaccharides , ChemistryABSTRACT
Objective To investigate the expression and genetic alterations of KLF6 in hepatocellular carcinoma (HCC) and explore their functional mechanisms in the oncogenesis and development of HCC. Methods Real-time quantitative-PCR, direct sequencing and LOH approaches were used to detect KLF6 genetic abnormalities in HCC. The experiment had 2 groups, an experimental group and a control group. In the experimental group, the transfected plasmid pcDNA3.0 was recombined with KLF6 and tranfected into HCC HepG2 cells. MTT, flow cytometry and Western blotting were used to observe the effect of anti-oncogene wild type KLF6 on HepG2 cells by transgenic method for 48 h.Results Expression levels of KLF6 were significantly downregulated in HCCs(P＜0. 01), as detected by qRT-PCR. LOH occurred in 11 (52%) of the 21 tumors, and all the samples with LOH showed KLF6 down-regulation. The mutational frequency was 29%, and sequence changes located in activation domain of KLF6. Meanwhile, MTT assay showed a significant antiproliferative effect of the transfected wtKLF6 on HepG2 cells(42.7%, P＜0.05). Fluorescence-activated cell sorting analysis revealed that KLF6 induced apoptosis. Conclusion The deregulation of KLF6 together with genetic abnormalities of allelic imbalance and mutations may play an important role in HCC pathogenesis.
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Objective To assess the single-exponential and dual-exponential fitting methods of MR T2-Map, and to get T2 value of each pixel. Methods Single and dual-exponential methods with linear fitting and non-linear regression fitting techniques were used for a series images with different TE; then T2-Map images were achieved. T2-Map software was realized on MATLAB and it had the function of compute, display, save and so on. Results T2-Map software with single-exponential and dual-exponential fitting methods was achieved, able to calculate T2 value of tissues everywhere and form the T2-Map image. Conclusion Single-exponential T2-Map method is convenient, having obvious merit-high speed, but can not show the area with obvious different contents very well. However, dual-exponential fitting method can deal with this question with providing different T2 values, thus is accurate with the sacrifice of costing too much time. Dual-exponential fitting method of T2-Map is a beneficial supplement to single-exponential method.
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Kruppel-like factor 6 (KLF6) was reported as tumor suppressor in multiple cancers. However, loss of chromosomal locus spanning KLF6 is relatively infrequent in previous published studies. To explore the role of KLF6 in hepatocellular carcinoma (HCC), we examined the gene for expression change, loss of heterozygosity (LOH) and mutation in 26 HCC samples. The expression levels of KLF6 were significantly down-regulated in HCCs, as detected by qRT-PCR. LOH occurred in 11 (52%) of 21 tumors, and all the samples with LOH showed KLF6 down-regulation. The mutational frequency was 24%, and sequence changes located in activation domain of KLF6. Furthermore, MTT assay showed a significant antiproliferative effect of the wt KLF6 transfected in HepG2 hepatoblastoma cells. Fluorescence-activated cell sorting analysis revealed that KLF6 could induce apoptosis. These findings indicate that deregulation of KLF6, together with genetic abnormalities of allelic imbalance and mutations, may play a role in HCC pathogenesis.
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Objective To observe the alteration of coagulation function in the patients with stage Ⅲ～Ⅳ non-Hodgkin lymphoma and evaluate its clinical significance. Methods 62 patients with NHL and 20 healthy examiners were studied. The parameters of PT, APTT, TT and FIB in blood plasma were detected.Results The levels of APTT and FIB in NHL group were significantly higher than that in control group (P 0.05).Conclusion The NHL patients especially ⅢB～ⅣB patients usually accompany with abnormal coagulation function and hypercoagnlable states, and it' s necessary to monitor their coagulation function.
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Objective To research some parameters' influence on signal-to-noise ratio (SNR) of MR. Methods Magphan phantom was used to do experiments on 1.5T, 0.5T and 0.23T MRI. Scan parameters such as NEX, scan matrix and slice thickness were altered.Evaluate whether the change of SNR varied with parameter to be in accordance with the SNR law.Results (1) When spin echo pulse applied and NEX changed, the results of high field device A and B weren't in accordance with SNR theory, and high filed device C and low field device F were in accordance with SNR theory. When fast spin echo pulse applied and NEX changed, the result of device B was in accordance with SNR theory. (2) When scan matrix changed, measured value was lower than ideal value for little matrix, and vice versa. (3) The measured value was very closely to ideal value for little slice thickness. When slice thickness exceed 5 mm, the difference between the measured value and ideal value was significance.Conclusion Based on the SNR theory, the user of MRI should consider the running characteristic of MR system to select scan parameters.