Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS).@*METHODS@#Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster.@*RESULTS@#The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up.@*CONCLUSION@#The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients.

Investigation on the content of persistent organic pollutants in fish from Dongting Lake in China / 中华预防医学杂志

Objective@#To investigate the content of persistent organic pollutants (POPs) in fish from Dongting Lake.@*Methods@#Ten sample collection points were set in lakeside city Yueyang and Yuanjiang. In July (wet season) and November (dry season) of 2012, 13 common fish species were captured by convenience sampling in Dongting Lake. Two to three fish with similar weight were selected in each season for the same species of fish. After sample preparation and pretreatment, the contents of polychlorinated dibenzo-p-dioxins and dibenzofurans (PCDD/Fs), dioxin-like polychlorinated biphenyls (dl-PCBs), indicator polychlorinated biphenyls and polybrominated diphenyls ether (PBDEs) in the samples were determined by high resolution gas chromatographer-high resolution mass spectrometry. Toxicity Equivalents (TEQ) of PCDD/Fs and dl-PCBs were calculated according to the revised toxicity equivalent factor (TEF) of WHO in 2005. The contents of POPs were expressed by median and quavtile. The differences of POPs in fish in different periods were compared by Wilcoxon rank sum test.@*Results@#The content of PCDD/Fs of fish in Dongting Lake in wet season was 12.397 (8.865, 24.964) pg/g, higher than that in the dry season 0.771 (0.490, 1.442) pg/g (P<0.001), and the toxicity equivalent quantity (TEQ) were 0.150 (0.066,0.528) and 0.143 (0.066, 0.235) pg-TEQ/g without statistically significant difference (P>0.05). For the fish in wet and dry season from Dongting Lake,∑dl-PCBs of fish were 66.475 (28.065, 77.794) and 24.205 (18.237, 90.777) pg/g, respectively, and the TEQ were 0.061 (0.046, 0.268) and 0.075 (0.054, 0.182) pg-TEQ/g; ∑ indicative PCBs were 237.764 (153.896, 335.483) and 119.711 (52.171, 408.696) pg/g, respectively; ∑ PBDEs were 106.513 (64.834, 164.860) and 86.837 (61.872, 177.108) pg/g, respectively. The highest content of PCDD/Fs was found in grass carp (198.360 pg/g) in wet season. The higher content of PCBs was found in long-necked fish (2 332.509 pg/g) and PBDEs was found in pelteobagrus fulvidraco (343.857 pg/g), respectively.@*Conclusion@#A lower burden was found in fishes from Dongting Lake, and the content of POPs varied in different seasons and fishes.

The relationship between abnormal expression spectrum of microRNA and prostate cancer / 国际检验医学杂志

Prostate cancer is one of the most common malignancies in the male genitourinary system, and its incidence is increasing, which seriously threatens the health of men.MicroRNAs (miRNAs) are an endogenous, non-coding, single-stranded RNA consisting of 21to 25nucleotides that act on the mRNA of a target gene to regulate the entire metabolic process of the cell, such as metastasis, invasion, inflammation, cell cycle and apoptosis.At present, miRNAs have become one of the most popular research areas in biomedicine for the regulation and function of prostate cancer and other tumor diseases.This article discusses the latest advances in the role of abnormal expression of miRNAs in prostate cancer and provides theoretical basis and ideas for further research.

SCoT-PCR Primer Selection and Reaction System Optimization of DNA of Marchantia convoluta in Guangxi / 中国药房

OBJECTIVE:To establish PCR reaction system of DNA of Marchantia convoluta in Guangxi marked with SCoT polymorphism marker technique by screening primer and optimizing reaction condition. METHODS:Modified CTAB method was used to extract DNA of M. convolute from Guangxi;gel electrophoresis and UV spectrophotometry were used to investigate purity and concentration of DNA. Using sample DNA as template,PCR amplification of 36 SCoT primers was conducted,and suitable primers were screened after electrophoresis,staining and imaging of products. The orthogonal experiment of 5 factors and 4 levels was conducted by 5 main factors as DNA concentration,Mg2 + concentration,dNTP concentration,primer concentration,Taq DNA polymerase concentration. The condition of SCoT-PCR reaction system was optimized. RESULTS:Extracted sample DNA bands were neat without RNA contamination,degradation or dispersion of fluorescence;sample well was clear. UV absorbance ratio ranged 1.7-2.0 at 260 nm and 280 nm;purity and concentration of DNA were both suitable for follow-up test. PCR results of 36 primers showed that product band of No. 4 primer was neat without diffuse fluorescence but with best luminance,so No. 4 primer was used for PCR reaction. The optimal SCoT-PCR reaction system contained 30.00 μg/mL DNA,2.00 mmol/L Mg2+,0.20 mmol/L dNTP, 0.40 μmol/L primer,0.50 U/mL Taq DNA polymerase(total reaction volume of 20 μL). CONCLUSIONS:Suitable SCoT-PCR primer of DNA is screened,and reaction system is optimized. It provides technologic basis for variety identification and genetic relationship analysis of M. convoluta in Guangxi.

One case report of Ancylostoma duodenale parasitized in hepatic flexure of colon / 中国血吸虫病防治杂志

This paper reports a case of Ancylostoma duodenale parasitized in the hepatic flexure of colon and the case was misdiagnosed at the beginning. The causes of misdiagnosis are analyzed and the laboratory examination methods of hookworm are summarized.

Clinical efficacy and safety of compound Qinghuang powder for treatment of myelodysplastic syndromes and its association with blood arsenic concentration / 白血病·淋巴瘤

Objective To analyze the clinical efficacy and safety of compound Qinghuang powder (compound QHP) for treatment of myelodysplastic syndromes (MDS) and its association with blood arsenic concentration (BAC). Methods 40 patients with MDS were treated with compound QHP, and the clinical efficacy, safety, and its association with BAC were evaluated after treatment for 6, 9 months, respectively. Results After treatment for 6 months, the rate of hematology improvement was 32.5 % (13/40), and the effective rate was 87.5%(35/40). 21 cases depended on the blood transfusion before treatment, after treatment 6 cases completely got rid of blood transfusion and the blood transfusion of another 6 cases was decreased by more than 50 %. The absolute neutrophil count was increased from (0.50±0.13)×109/L to (0.93±0.33)×109/L (t= 4.130, P= 0.0008). The hemoglobin content was increased from (71.06±14.82) g/L to (80.41±27.35) g/L (t= 2.233, P= 0.0321). After treatment for 9 months, 76.2 % (16/40) of the patients got rid of blood transfusion or blood transfusion reduction was more than 50%. The platelet count was increased from (45.04 ± 24.38)×109/L to (60.65±29.46)×109/L (t= 2.241, P= 0.0335). The incidence of abdominal pain and diarrhea after treatment for 1, 3 and 6 months were 12.5 % (5/40), 10.0 % (4/40) and 5.0 % (2/40), respectively, all belonging to mild level . Before treatment , there were 12 patients with abnormal liver function , including 6 cases back to normal after treatment, and 6 cases of significantly relieved, without new case with abnormal liver function. Before treatment, there were 10 cases with abnormal myocardial enzymes, including 1 cases back to normal after treatment and 9 cases significantly relieved, without new case with abnormal myocardial enzymes. No patient with abnormal renal function was observed before and after treatment. The BAC was (7.71±5.65) μg/L before treatment, which was significantly lower than that of 1, 3 and 6 months [(29.27±9.07)μg/L, (27.79 ±10.18) μg/L and (31.98 ±12.55) μg/L respectively, all P 0.05). The BAC in efficacy group [(33.48 ±12.56) μg/L] was significantly higher than that in non-efficacy group [(21.46 ±6.00) μg/L] (t=2.089, P=0.035). 12.5% (5/40) of the patients had mild gastrointestinal side effects after treatment for 1 month, while the BAC of them [(16.93 ±1.80) μg/L] was significantly lower than that in patients without gastrointestinal side effects [(31.78±1.39 ) μg/L, P<0.0001]. The occurrence rate of abdominal pain and diarrhea was decreased after treatment for 3 and 6 months, while the BAC was increased gradually. Conclusions Compound QHP is effective in the treatment of MDS with mild adverse reactions. There is no damage to the heart, liver, and renal function. Besides, it shows that reducing the gastrointestinal adverse reactions and maintaining the effective concentration of BAC play a significant role in the effect of compound QHP in the treatment of MDS.

Study on Safe and Effective Clinical Methods for Arsenic-containing Compound Qinghuang Powder in Treatment of Myelodysplastic Syndrome / 中国中医药信息杂志

Objective To search for application ways for the safe and effective clinical methods of arsenic-containing Compound Qinghuang Powder (Compound QHP) for the treatment of myelodysplastic syndrome (MDS). Methods Totally 200 patients with MDS were included in the study and treated with Compound QHP. After one-month treatment, the 60 patients with the blood arsenic concentrations 0.05). Conclusion In application of Compound QHP, the blood arsenic concentration can be monitored to adjust the daily dose of realgar, thus to increase the effective blood arsenic concentration, and then improving efficacy without increasing the clinical toxicity.

Analysis of the platelet counting difference between optical method and electrical impedance method and the alarm information of instrument / 国际检验医学杂志

Objective To compare the differences of platelet(PLT) count between the optical method (PLT‐O) and electrical impedance method (PLT‐I) ,using microscopic method (PLT‐M) as a standard method ,and to analyze the alarm information of in‐strument .Methods Both of PLT‐O and PLT‐M of 468 cases of patient specimens were detected by Sysmex XE‐2100 automatic hematocyte analyzer ,and which were compared with PLT‐M .The counts and morphology of red blood cells and platelets were de‐tected by microscopic method .The alarm information of red blood cells and platelets were recorded .Results In non‐hematopathy group ,there was no significant difference among PLT‐M ,PLT‐I and PLT‐O (P=0 .071) .In hematopathy group ,PLT‐I was signifi‐cantly different from both PLT‐M and PLT‐O (P0 .05) .There were 149 cases occurring platelets alarm and 127 cases occurring red blood cells alarm in hematopathy group , which was consistent with the results of microscopic method .Conclusion When the value of PLT is below the normal reference range ,counting error of PLT‐I is large and the value of PLT should be rechecked or corrected using PLT‐M and PLT‐O .Re‐exam‐ination should be performed when alarm information is displayed .

Effects of Shuguan Capsule on myocardial blood flow and myocardial oxygen consumption in dogs / 中成药

AIM: To investigate the effects of Shuguan Capsule on myocardial blood flow (MBF) and myocardial oxygen consumption (MOC) in anesthetized dogs. METHODS: Coronary blood flow (CBF) of twenty-five thoracotomized dogs was detected by electromagnetic flow meter and the MBF was calculated. While the oxygen content in the artery (AO2 ) and in the coronary venous sinus (VO2) was determined with blood oxygen analysis.Moreover, the other cardiac hemodynamic parameters, such as heart rate (HR), femoral arterial blood pressure (BP), were observed by physiological polygraph. RESULTS: It was found that Shuguan Capsule (48.5 mg/kg and 194 mg/kg) could significantly increase the MBF, and then decease the coronary artery resistance. Furthermore, Shuguan Capsule could also lower the AO2, but increase the VO2, which led to the decreased MOC. CONCLUSION: Shuguan Capsule exhibits the effects to keep the balance between blood supply and oxygen consumption in the heart by modulating the coronary resistance and by reducing MOC in dogs.

Study on the Regulatory Effect of Xinchuan Capsules on the Excessive Aactivation of Neuroendocrine of Dogs with Experimental Heart Failure / 中国中医药信息杂志

Objective To investigate the regulatory effect of Xinchuan capsules on the excessive activation of neuroendocrine with heart failure.Methods The heart failure animal model was built up using dogs by intravenous pumping of sodium pentobarbital.Water extract of Xinchuan capsules was given through duodenum.Indicators relating to the excessive activation of neuroendocrine changes of each group were observed.Results Xinchuan capsules could significantly increase the density of beta receptors of failure myocardial cells and lower the level of plasma norepinephrine and epinephrine,and remarkbly decrease the activity of plasma angiotensin converting enzyme.This played the similar role as the positive control drug metoprolol plus captopril.Conclusion Xinchuan capsules have the regulatory effect on the excessive activation of neuroendocrine with heart failure.TCM treatment for heart failure should not only target the functional disorder of the heart dominating blood circulation and vessels,but also the functional disorder of the heart stores the spirit,that is uneasy mental state.

A PHARMACODYNAMIC STUDY ON ZHI TAN LING / 中药新药与临床药理

This paper presents the results of pharmacological studies on Zhi Tan Ling (ZTL). The results showed that ZTL could decrease the ischemic damage of the brain tissue in case of acute cerebral ischemia and increase synthetic metabolism, promote restoration of Cerebral thrombosis, increase cerebral blood flow, improve hemorheologic indexes and meningeal microcirculation in experimental animals. It is indicated that ZTL is effective for ischemic apoplexy through various mechanisms.

Clinical Study on Jiangzhi Decoction in Regulating Lipometabolic Disorder with Stagnation of Phlegm and Blood-stasis / 中药新药与临床药理

Objective To investigate the therapeutic effect of Jiangzhi Decoction(JD) for the treatment of disordered lipid metabolism.Methods With Zhibituo Capsule as the control capsule,a random,paralleled and positive controlled clinical trial was carried out.A total of 64 patients were equally randomized into the treatment group and control group,and the treatment lasted 4 weeks.Results After administration,the level of total cholesterol(TC),triglyceride(TG),and arteriosclerosis index(AI) were reduced,the high density lipoprotein cholesterol(HDL-C) level was increased,and the sum of the decrease of electrocardiogram(ECG) ST segment was markedly improved in the treatment group,the difference being significant compared with those before treatment.In the treatment group,oppressive pain in the chest and hypochondrium,dizziness,limb numbness,poor appetite and headache were much relieved,and the relief of oppressive pain in the chest and hypochondrium,dizziness,and poor appetite was obvious as compared with the control group.Conclusion JD has good curative effect on disordered lipid metabolism with stagnation of phlegm and blood-stasis,in particular on relieving the clinical symptoms.

Effects of Shuangshen Ningxin capsule on ventricular remodeling and wall motion in myocardial ischemic miniature swine induced by thrombus / 中国药理学通报

Aim To observe the improved effects of Shuangshen Ningxin capsule on ventricular remodeling and wall motion in myocardial ischemic miniature swine induced by thrombus.Methods Myocardial ischemic model miniature swine induced by self-thrombus via cardiac catheter in left anterior descending coronary artery(LAD)were administrated Shuangshen Ningxin capsule for 6 days.The changes of cardiac form,left heart systolic and diastolic function,left ventricular wall motion were observed by the technology of conventional ultrasound and Doppler tissue imaging.Results 6 days after myocardial ischemia and administration,miniature swine of model group showed ventricular wall thinning,chambers heart dilating,ventricle remodeling and wall motion weak,but Shuangshen Ningxin capsule obviously lowered left ventricular internal diameter at end-diastole(LVIDd),left ventricular internal diameter at end-systole(LVIDs),end-systolic volume(ESV),end-diastolic volume(EDV)and isovolumic relaxation time(IVRT),and increased ejection fraction(EF),tissue velocity and tissue trace of left ventricle anterior wall cardiac apex segment.Conclusion Shuangshen Ningxin capsule has anti-myocardial ischemia effect by improving left ventricular remodeling,increasing left cardiac work,improving left heart systolic and diastolic function and increasing left ventricular wall motion.

Protective effects of hydroxysafflor yellow A on acute myocardial ischemia in dogs / 中国药理学通报

Aim To study the protective effects of hydroxysafflor yellow A(HSYA) on acute myocardial ischemia in dogs.Methods The acute ischemia models were prepared by ligation of left anterior descending(LAD) artery.The myocardial blood flow(MBF) was determined by ultrasonic doppler,the oxygen metabolism was recorded using blood-oxygen analysis,and the ET was measured with radioimmunological assay.The experiments adopted epicardiogram mapping to measure the scope and the degree of myocardial ischemia,and used quantitative histological assay to determine the size of myocardial infarction.Results HSYA was showed to obviously increase the MBF and the oxygen volume in coronary vein sinus.And the treatment could inhibit the ET release from the injured microvessels.Furthermore,HSYA could alleviate the degree of myocardial ischemia(?-ST),the scope of myocardial ischemia((N-ST),) and narrow the ischemic(area.) Conclusion HSYA was showed to inhibit the ET release,increase the MBF,improve the cardiac oxygen metabolism,and then inhibit the myocardial ischemia damage.