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OBJECTIVE@#To explore the genetic pathogenesis of X-linked agammaglobulinemia in two patients for clinical diagnosis and family counseling.@*METHODS@#Data was collected from the patients' family including clinical information, blood immunoglobulin level, as well as classification and subgrouping of B lymphocytes. Gene mutations were screened by whole exome sequencing (WES) through next-generation sequencing (NGS), the result was verified with Sanger sequencing.@*RESULTS@#A BTK c.1627T>C (p.Ser543Pro) variant was found in the pedigree. The phenotype and variant have co-segregated in the pedigree. The variant was not found in population database. The variant has affected in the kinase domain which contained no benign variants and is harmful as predicted through bioinformatic analysis.@*CONCLUSION@#BTK c.1627T>C (p.Ser543Pro) is a pathogenic variant contributing to X-linked agammaglobulinemia in this pedigree. Above finding has provided reproduction guidance for this family.
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Humans , Agammaglobulinaemia Tyrosine Kinase/genetics , Agammaglobulinemia/genetics , DNA Mutational Analysis , Genetic Diseases, X-Linked , Mutation , PedigreeABSTRACT
The neurotoxin β-amyloid (Aβ) is the main hallmark of Alzheimer′s disease (AD). Recent evidence suggests that, in common sporadic or late-onset forms of AD, elevated brain Aβ levels are caused by impaired clearance rather than overproduction. The cell surface receptor′s low-density lipoprotein receptor-related protein-1 (LRP1) has been reported to not only play a role in Aβ endocytosis, but also exist in the blood-brain barrier system, peripheral blood, liver, kidney and other tissues and organs, and transport Aβ to the cerebrospinal fluid or blood system by passing through the blood-brain barrier or the blood-cerebrospinal fluid barrier effectively, and finally clear it out of the body through peripheral tissues and organs. In this review, the role of LRP1 in the peripheral transport and clearance of Aβ is described, and it may be a safe and effective way to reduce Aβ in the brain and even improve cognitive dysfunction.
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ObjectiveTo investigate the effect of intraoperative Viatorr stent implantation for shunting of blood flow in the left or right branch of the portal vein on the clinical outcome of patients with cirrhotic portal hypertension undergoing transjugular intrahepatic portosystemic shunt (TIPS). MethodsA retrospective analysis was performed for the clinical data of 120 patients with cirrhotic portal hypertension who underwent TIPS in The General Hospital of Western Theater Command from March 2016 to December 2019, and according to the target position of portal vein puncture determined by intraoperative angiography, the patients were divided into left branch group and right branch group. The two groups were compared in terms of the incidence rates of postoperative recurrence and bleeding, stent dysfunction, and hepatic encephalopathy (HE) and survival. The t-test was used for comparison of continuous data between two groups, and the chi-square test was used for comparison of categorical data between two groups. The Kaplan-Meier curve was used to calculate rebleeding rate, stent patency rate, incidence rate of HE, and survival rate. ResultsThe surgical success rate was 100% for all 120 patients, with a short-term hemostasis rate of 100%. Among the 120 patients, 52 underwent shunting of the left branch of the portal vein and 68 underwent shunting of the right branch. There was a significant reduction in portal venous pressure after surgery (9.98±2.84 mm Hg vs 24.72±5.11 mm Hg, t=37.76, P＜0.01). The cumulative rebleeding rates at 12 and 24 months after surgery were 3.2% and 11.0%, respectively, and the cumulative incidence rates of HE at 3, 6, 12, and 24 months after surgery were 10.8%, 13.6%, 21.2%, and 24.5%, respectively. Among the 29 patients who experienced HE, 23 had grade Ⅰ-Ⅱ HE and 6 had grade Ⅲ HE. The cumulative incidence rates of stent dysfunction at 12 and 24 months after surgery were 7.1% and 21.4%, respectively. The cumulative survival rates at 12 and 24 months after surgery were 92.0% and 86.5%, respectively. As for comparison of the left branch group and the right branch group, there were no significant differences in postoperative stent patency rate, rebleeding rate, incidence rate of HE, and survival rate(all P＜0.05). ConclusionTIPS is a safe and effective method for the treatment of cirrhotic portal hypertension, and intraoperative Viatorr stent implantation, no matter for establishing the shunt of the left or right branch of the portal vein, will not affect the clinical outcome of patients.
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This study was aimed to optimize the ethanol extraction technology ofXiao-Xu-Ming (XXM) decoction. The extraction rates of paeoniflorin, ferulic acid, tetrandrine and yield extract were used as comprehensive evaluation indexes. The amount of ethanol, extraction times, extraction time and concentration of ethanol were selected as factors. The orthogonal design was used to optimize ethanol reflux extraction technology of XXM decoction. The results showed that the optimum extraction conditions were as follows: refluxing extracted 3 times with 10 folds, 70% ethanol, 1.5 h for each time. It was concluded that the optimized extraction process was objective, practical, reasonable and stable, which provided experimental basis for industrial production of XXM decoction.
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<p><b>OBJECTIVE</b>To evaluate the agreement and correlation between hepatic vein pressure gradient (HVPG) and portal vein pressure (PVP) in patients with portal hypertension,and explore their clinical value.</p><p><b>METHODS</b>A total of 46 patients with portal hypertension were directly measured the free hepatic pressure, wedged hepatic pressure, portal vein pressure before and after TIPS therapy. The agreement and correlation of HVPG and PVP were analyzed, and explore their clinical value.</p><p><b>RESULTS</b>There is no significant agreement or correlation between HVPG and PVP in 5 patients, whose third hilar have large communicating branches between portal vein and Inferior vena cava, or with obvious umbilical vein opened. The HVPGs were significantly agreed with portal vein pressure in other 41 patients. There is no significant difference of HVPG or PVP between earlyTIPS and not early-TIPS groups. In addition, the portal vein pressures after TIPS were significantly decreased compared with that before TIPS.</p><p><b>CONCLUSION</b>The HVPG can well show the PVP except these with obvious communicating branches between portal vein and Inferior vena cava in third hilar, and TIPS can effectively decrease the portal vein pressure in patients with portal hypertension.</p>
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Humans , Hepatic Veins , Hypertension, Portal , Portal Vein , Vena Cava, Inferior , Venous PressureABSTRACT
The performance of transjugular intrahepatic portosystemic shunt (TIPS) has two key procedures: (1) portal vein branch puncturing, and (2) the correct judgment of the safety of the puncture site. The portal vein branch puncturing is the most important and difficult step for a successful TIPS procedure. Therefore, to find and to establish an proper access to the portal vein is critical. Nowadays, in clinical practice several imaging techniques have been used to localize the portal vein, such as magnetic resonance imaging, sonography, fluoroscopy, arteriography and computed tomography. This article aims to make a general review on these invasive and non - invasive localization techniques when a successful performance of TIPS is expected.
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This article was aimed to study the absorption of sinomenine in Caulis Sinome nii by different types of macroporous resin. The transfer rate of sinomenine was used as detection index. The screening was made on the technological process of absorption and purification of sinomenine by macroporous resin. The results showed that the macroporous resin AL-3 was selected with the best absorptive capacity under pH2, while the macroporous resin X-5 was selected with the best absorptive capacity under pH6. It was concluded that the selection of macroporous resin should comprehensively consider the properties of target compounds, and indexes such as aperture, specific surface area, and polarity of macroporous resin.
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This study was aimed to establish a HPLC fingerprint of saponins in Sanjie-zhentong Capsule in order to make a quantitative analysis of the quality of Sanjie-zhentong Capsule. The Waters Symmetry ShieldTM RP18 (4.6 mmí 250 mm, 5 μm) column was used with a mobile phase of acetonitrile-water gradient elution. The flow rate was 1.2 mL/min. The column temperature was 30℃. The detection wavelength was 203 nm. The results showed that the fingerprint chromatography included 9 mutual peaks. The similarity among batches was more than 0.95. Compared with reference substance, five characteristic components were recognized. The five components are notoginsenoside R1, ginsenoside Rg1, ginsenoside Re, ginsenoside Rb1 and ginsenoside Rd. It was concluded that this method was rapid, simple and accurate and can be used as one of the effective methods for the quality control of Sanjie-zhen-tong Capsule.
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<p><b>OBJECTIVE</b>To establish an HPLC method for simultaneous determination of contents of loureirin A, loureirin B, 7,4'-dihydroxy flavone, pterostilbene and resveratrol in resina draconis and its extracts.</p><p><b>METHOD</b>Kromasil 100-5C18 column (4.6 mm x 250 mm, 5 microm) was used with the mobile phase of acetonitrile-1% glacial acetic acid at a flow rate of 1.0 mL x min(-1) and the column temperature at 40 degrees C. The detective wave length of loureirin A and B was detected at 278 nm, and 7,4'-dihydroxy flavone, pterostilbene and resveratrol was at 319 nm.</p><p><b>RESULT</b>All the five active components reached the resolved peaks within 40 min, indicating a good linearity (r > or = 0.999 7). The average recoveries of loureirin A, loureirin B, 7,4'-dihydroxy flavone, pterostilbene and resveratrol in resina draconis were 102.9%, 96.81%, 97.29%, 100.7% and 103.7%, with RSDs of 0.23%, 1.5%, 0.42%, 0.58% and 0.34%, respectively. The average recoveries of loureirin A, loureirin B, 7,4'-dihydroxy flavone, pterostilbene and resveratrol in extract of resina draconis were 102. 2% , 96. 93%, 97. 90% , 102.0% and 103.3%, with RSDs of 1.7%, 0.91%, 1.4%, 1.5% and 1.2%, respectively.</p><p><b>CONCLUSION</b>The method is so easy, accurate, highly repeatable and stable that it provides good reference for the quality control of resina draconis and its extracts.</p>
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Chalcones , Chromatography, High Pressure Liquid , Methods , Dracaena , Chemistry , Flavones , Resins, Plant , StilbenesABSTRACT
<p><b>OBJECTIVE</b>To investigate pharmacokinetic parameters of peoniflorin, albiflorin and amygdaloside after administration of Guizhi Fuling capsule in beagle dogs.</p><p><b>METHOD</b>Plasma was collected from forelimb vein of Beagle dogs after oral administration of Guizhi Fuling capsule. HPLC-MS/MS method was used to determine the concentrations of constituents in plasma. The pharmacokinetic parameters were analyzed by program DAS 2.0.</p><p><b>RESULT</b>The limit of quantitation of peoniflorin, albiflorin and amygdaloside were 0.25, 2.64, 0.04 microg x L(-1), respectively. After administrated with different doses, half-life of peoniflorin in dogs were 4.33, 3.62 h, albiflorin were 6.16, 5.91 h, amygdaloside were 2.43, 1.32 h. The AUC(0-t) of all components were related to dose.</p><p><b>CONCLUSION</b>The pharmacokinetic course of peoniflorin, albiflorin and amygdaloside can be described by two-compartment model, and these components have high expose.</p>
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Animals , Dogs , Male , Administration, Oral , Amygdalin , Blood , Area Under Curve , Benzoates , Blood , Bridged-Ring Compounds , Blood , Capsules , Pharmacokinetics , Chromatography, High Pressure Liquid , Methods , Drugs, Chinese Herbal , Pharmacokinetics , Glucosides , Blood , Half-Life , Monoterpenes , Tandem Mass Spectrometry , MethodsABSTRACT
Objective To establish the method for the content determination of sinomenine in Qiwei Tongbi oral liquid. Methods Sinomenine ofQiwei Tongbi oral liquid was determined by HPLC, with the column being Waters XTerra column temperature setting at 25℃, flow rate being 1.0 ml/min, and the detective wavelength being 262 nm. Results There was a good linearity of sinomenine in the range of 0.248～2.480 μg, and the average recovery was 98.82% with RSD of 0.13%. Conclusion This method was simple, accurate, reproducible, and thus could be used for quality control of Qiwei Tongbi oral liquid.
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Objective To explore the activation of circulating platelet in patients with cerebral infarction(CI) and its correlation with CI.Methods The fibrinogen receptor(FIB-R) and P-selectin were used as molecular marker of circulating platelets, which were analyzed by flow cytometry in 80 healthy persons and 127 CI patients in acute and rehabinating period.Results The FIB-R expression on circulating platelet of CI patients in dangerous period was significantly higher than that in steady period and healthy persons(P0.05).Conclusion The activation of circulating platelet has a close relationship with CI. FIB-R may be a sensitive molecular marker of circulating activated platelet. It will help to evaluate the severe extent of CI and give an anti-platelet treatment as soon as possible to improve the prognosis of CI through monitoring the FIB-R of CI patients successively.
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Objective To study the relationship between pre transjugular intrahepatic portosystemic shunt(TIPS) liver hemodynamics and the incidence of post TIPS hepatic encephalopathy(HE).Methods Hepatic blood dynamics was evaluated in 41 cases of liver cirrhosis before TIPS and one month later.The patients were divided into two groups according to Doppler findings before TIPS.Group 1 composed of patients with prograde portal flow,group 2 composed of patients with hepatofugal or back forth portal flow.The clinical characteristics,incidence of post TIPS HE and pre/post TIPS hepatic arterial resistant index(RI) of the groups were compared.The independent prognostic value of pre TIPS variables for the onset of HE after TIPS was tested with a multiple regression analysis.The variables included age,pugh score,presence of HE before TIPS,the pattern of portal flow.Results The two groups did not differ significantly in their age,etiology of liver disease,indications of TIPS placement, HE incidence before TIPS and portacaval gradient before and after TIPS.But liver failure was more severe in group 2(P
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AIM:To determine the contents of sinomenine and chelidonine in Tong’an Injection(Caulis sinomenii, Chelidonium majus Linn, etc). METHODS: HPLC was used. The conditions included the gradient elution with methanol-0.1% triethylamine. The detection wavelength was set at 280 nm. RESULTS: The calibration curve was linear in the range of 162-1 620 ?g for the sinomenine and the range of 35-350 ?g for chelidonine, respectively. The average recovery for sinomenine was 99.56% and the relative standard deviation was 0.41%(n=5). The average recovery for chelidonine was 99.46% and the relative standard deviation was 0.62% (n=5). CONCLUSION: The method is simple, rapid and specialty. It can be used for the determination of sinomenine and chelidonine in Tong’an Injection.