Genetic features of a case with mosaic ring chromosome 4 and a review of the literature / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis, clinical phenotype and pathogenesis for a child with mosaicism ring chromosome 4.@*METHODS@#Clinical data of the child was collected. Peripheral blood chromosomal karyotype G banding analysis, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) were carried out for the child, in addition with a review of the literature.@*RESULTS@#The child was born full-term with low birth weight, facial dysmorphism, patent ductus arteriosus and ventricular septal defect. His karyotype was determined as mos46,XY,r(4)(p16.3q35.2)[259]/45,XY,-4[25]/47,XY,r(4)(p16.3q35.2), +r(4)(p16.3q35.2)[8]/46,XY,der(4)del(4)(p16.3)inv(4)(p16.3q31.1)[6]/46,XY,dic?r(4;4)(p16.3q35.2;p16.3q35.2)[4]/48,XY,r(4)(p16.3q35.2),+r(4)(p16.3q35.2)×2[3]/46,XY,r(4)(p1?q2?)[2]; CMA result was arr[GRCH37]4p16.3(68 345-2 981 614)×1; FISH result was 45,XY,-4[12]/45,XY,-4×2,+mar1.ish r1(4)(WHS-,D4Z1+)[1]/ 46,XY,-4,+mar1.ishr1(4)(WHS-,D4Z1+)[73]/46,XY,-4,+mar2.ishr2(4)(WHS-,D4Z1++)[1]/47,XY,-4,+mar1×2.ishr1(4) (WHS-, D4Z1+)×2[4]/46,XY,del(4)(p16.3).ish del(4)(p16.3)(WHS-,D4Z1+)[9].@*CONCLUSION@#In this case, the ring chromosome 4 as a de novo variant has produced a number of cell lines during embryonic development and given rise to mosaicism. The clinical phenotype of ring chromosome 4 is variable. The instability of the ring chromosome itself, presence of mosaicism, chromosome breakpoint and range of deletion and/or duplication may all affect the ultimate phenotype.

A ratio fluorescence method based on dual emissive gold nanoclusters for detection of biomolecules and metal ions.

Gold nanoclusters have good biocompatibility and can be easily modified to improve their luminescence properties. In this study, we prepared a new type of dual-emitting gold nanoclusters (d-Au NCs) for discriminative detection of phenylalanine and Fe3+ with high selectivity and sensitivity. The fluorescence sensor which was synthesized without any further assembly or conjugation shows dual-emissions at 430 nm and 600 nm under a single excitation at 350 nm. Phenylalanine can turn on the red emission of the probe, while Fe3+ can turn on its yellow emission and turn off the red emission. By detecting a variety of amino acids and metal ions, d-Au NCs showed good selectivity to phenylalanine and Fe3+. Finally, this method was applied to determine phenylalanine and Fe3+ in lake water, human urine and milk, which has certain application prospects in the field of biology and environment.

Extraction and detection of morin from Sanghuangporus lonicericola by magnetic molecularly imprinted polymers coupled with HPLC analysis.

In this study, morin magnetic molecularly imprinted polymers (Morin-MMIPs) were synthesized based on magnetic nanoparticles and surface molecularly imprinted technology with superparamagnetism and extraction selectivity. The polymers allowed the separating of morin from complex matrices in the presence of an external magnetic field with no need for centrifugation or filtration. The microstructure of the polymers was characterized by scanning electron microscopy and transmission electron microscopy. Meanwhile, the functional group and magnetic properties of the polymers were characterized using Fourier transform infrared spectroscopy (FT-IR) and magnetic vibration meter (VSM). The maximum adsorption capacity of MMIPs was 3.24 mg/g, which was 2.55 times higher than that of MNIPs (1.27 mg/g). Morin was quantified by HPLC-DAD, which showed good linearity in the concentration range of 0.05-60 µg/ml with the correlation coefficient R2  = 0.9993. The limit of detection (LOD) was 0.08 µg/ml, and the spiked recoveries were 87.5-106.8%. The calculation of the adsorption isotherm and kinetic model revealed the adsorption mechanisms, and the adsorption process was consistent with the Langmuir adsorption isotherm and pseudo-secondary kinetic models. Likewise, the material has been successfully used to extract and separate morin from food samples. The method reported in this paper has the advantages of fast adsorption speed, high selectivity, and environmental friendliness. It provided a reliable method for the separation and detection of morin or other natural products.

Synthesis and characterization of genistein magnetic molecularly imprinted polymers and their application in soy sauce products.

In this study, a novel method based on genistein magnetic molecularly imprinted polymers (Gen-MMIPs) was developed utilizing a surface molecular imprinting technique, in which genistein was used as the template molecule and Fe3O4 was used as the carrier. The synthesis of Gen-MMIPs was characterized by using scanning electron microscopy (SEM) and transmission electron microscopy (TEM), which indicated that the diameter of the Gen-MMIPs was approximately 500 nm. Via analysis with a vibrating sample magnetometer (VSM), the saturation magnetization of Gen-MMIPs was determined to be 24.79 emu g-1. Fourier transform infrared (FT-IR) spectroscopy showed that polymer groups were on the surface of the magnetic carrier. Adsorption experiments suggested that the genistein adsorption capability of Gen-MMIPs was 5.81 mg g-1, and adsorption equilibrium was achieved within 20 min. Gen-MMIPs as dispersive solid-phase extraction (dSPE) adsorbents combined with HPLC were used to selectively separate genistein in soy sauce samples, and the recoveries ranged from 85.7 to 88.5% with relative standard deviations (RSDs) less than 5%, which proved that this method can be used for the detection of genistein residues in real samples.

Methodology research of determination of thiols in plasma by high performance liquid chromatogra-phy with fluorescence / 新乡医学院学报

Objective To establish a rapid high performance liquid chromatography(HPLC)method for simultaneous determination of the concentration of total,free and reduced homocysteine (Hcy),glutathione(GSH),cysteine (Cys)and cys-teinylglycine (CysGly). Methods HPLC fluorescence detection method was established under the below conditions. The axci-tation and emission wavelengths was 330 nm and 380 nm respectively;the separation of thiols was achieved by using a C-18 column and the column temperature was 25 ℃;the mobile phase was gradient eluted with the three carboxyl ethyl phosphine (TCEP)as reducing agent and N-1- phenyl maleimide (NPM)as derivatization agent. The HPLC fluorescence detection meth-od was used to measure the thiol concentration in plasma of uraemia patients and healthy people. Results The linear range of total and free Hcy,GSH,Cys and CysGly were 1. 0 - 120. 0,2. 0 - 80. 0,10. 0 - 1500. 0 and 3. 0 - 240. 0 μmol·L - 1 respec-tively;the linear range of reduced Hcy,GSH,Cys and CysGly was 1. 25 - 50. 00,0. 10 - 8. 00,1. 25 - 50. 00 and 0. 01 -4. 00 μmol·L - 1 respectively. The intra-and inter-day ralative standard deviation were less than 5％;the recovery of this meth-od was 80. 1％ - 111. 7％ . The newly established HPLC fluorescence detection method was successfully applied to determine the total,free and reduced concentration of GSH,Cys,Hcy and CysGly in 34 uraemia patients and 32 healthy people. Conclu-sion A new HPLC fluorescence detection method for the determination of Hcy,GSH,Cys,and CysGly in plasma is developed and this method is accurate and reliable.

Study on compatibility rationality and comparative advantage of analgesic effect of Yuanhu Zhitong Dropping Pills on dysmenorrhea model / 药物评价研究

Objective To observe compatibility rationality and comparative advantage of analgesic effect of Yuanhu Zhitong Dropping Pills (YZDP) compared with its ingredient and Yueyueshu through dysmenorrhea model induced by oxytocin.Methods Using dysmenorrhea model induced by ip injection of oxytocin to observe the effect of YZDP,Corydalis extract and Angelica dahurica extract on the latency and times of writhing response,and ELISA method was used to test the level of factors associated with pain in plasma,including 5-serotonin (5-HT),norepinephrine (NA),β-endorphin (β-EP),prostaglandin F2α (PGF2α） and prostaglandin E2 (PGE2),and level of dopamine (DA) in brain tissue.Q value was calculated by prime probability addition method,and according to whether the Q value was greater than one to determine whether the effects of YZDP was better than that of single component.Results Compared with model group,YZDP,Corydalis extract and Angelica dahurica extract could significantly prolong the latency of writhing response,decrease writhing times (P ＜ 0.05,0.01 and 0.001),and the Q values were greater than one.Compared with Yueyueshu,effect of Yuanhuzhitong dropping pills was significantly increased (P ＜ 0.05 and 0.01).YZDP and Corydalis extract could increase the level of β-EP as well as PGE2,and decrease the level of 5-HT,NA,DA,PGF2α and the ratio of PGF2α to PGE2 obviously in dysmenorrhea model rats (P ＜ 0.05,0.01 and 0.001).A.dahurica extract can significantly reduce 5-HT and DA level (P ＜ 0.05,0.01).Q values of β-EP,NA,DA and PGE2 were greater than one.Compared with Yueyueshu,YZDP increased the levels of β-EP and PGE2,and decreased the levels of 5-HT,PGF2α and PGF2α/PGE2 significantly (P ＜ 0.05 and 0.01).Conclusion YZDP has significant analgesic effect on dysmenorrhea model and has compatibility rationality because of better analgesic effect than ingredient use only.Compared with Yueyueshu,YZDP has the characteristic of working early and better analgesic effect.

Study on compatibility rationality and comparative advantage of analgesic effect of Yuanhu Zhitong Dropping Pills on dysmenorrhea model / 药物评价研究

Objective To observe compatibility rationality and comparative advantage of analgesic effect of Yuanhu Zhitong Dropping Pills (YZDP) compared with its ingredient and Yueyueshu through dysmenorrhea model induced by oxytocin.Methods Using dysmenorrhea model induced by ip injection of oxytocin to observe the effect of YZDP,Corydalis extract and Angelica dahurica extract on the latency and times of writhing response,and ELISA method was used to test the level of factors associated with pain in plasma,including 5-serotonin (5-HT),norepinephrine (NA),β-endorphin (β-EP),prostaglandin F2α (PGF2α） and prostaglandin E2 (PGE2),and level of dopamine (DA) in brain tissue.Q value was calculated by prime probability addition method,and according to whether the Q value was greater than one to determine whether the effects of YZDP was better than that of single component.Results Compared with model group,YZDP,Corydalis extract and Angelica dahurica extract could significantly prolong the latency of writhing response,decrease writhing times (P ＜ 0.05,0.01 and 0.001),and the Q values were greater than one.Compared with Yueyueshu,effect of Yuanhuzhitong dropping pills was significantly increased (P ＜ 0.05 and 0.01).YZDP and Corydalis extract could increase the level of β-EP as well as PGE2,and decrease the level of 5-HT,NA,DA,PGF2α and the ratio of PGF2α to PGE2 obviously in dysmenorrhea model rats (P ＜ 0.05,0.01 and 0.001).A.dahurica extract can significantly reduce 5-HT and DA level (P ＜ 0.05,0.01).Q values of β-EP,NA,DA and PGE2 were greater than one.Compared with Yueyueshu,YZDP increased the levels of β-EP and PGE2,and decreased the levels of 5-HT,PGF2α and PGF2α/PGE2 significantly (P ＜ 0.05 and 0.01).Conclusion YZDP has significant analgesic effect on dysmenorrhea model and has compatibility rationality because of better analgesic effect than ingredient use only.Compared with Yueyueshu,YZDP has the characteristic of working early and better analgesic effect.

A survey on the effect of the quality monitoring system for the medical English major's probation / 中华医学教育探索杂志

This paper is to survey two groups of medicine-oriented English major undergraduates who have their probation either before or after the Quality Monitoring System is introduced to them about their degrees of learning satisfaction through questionnaires and seminar discussions. As a result, it proves that the implementation of the Quality Monitoring System in student probation helps to raise the degrees of student learning satisfaction, which clearly promotes the probation quality and secures the fulfillment of the mission in practice.

Estimation of postmortem interval with single-voxel proton 1H-MR spectroscopy at different temperature / 法医学杂志

OBJECTIVE@#To find an objective method for estimation of postmortem interval (PMI) with single-voxel proton MR spectroscopy at different temperature.@*METHODS@#Changes of metabolite peak area and peak area ratio of the N-acetylaspartate (Naa), choline (Cho) and total creatine (Cr) in the brain of 24 rabbit models were measured by 1H-MR spectroscopy (1H-MRS) at 0.5, 1, 2, 4, 6, 8, 12, 16 and 24 h, respectively after death.@*RESULTS@#Naa and Cr decreased continuously with the extension of PMI, and the ratios of Naa/Cr and Cho/Cr also decreased continuously with the extension of PMI within 24 h. The quadratic polynomial regression equation is y=0.0019x2-0.803x+1.4498 (R2=0.962) (Equation 1) with the Naa/Cr used as an independent variable, while the quadratic polynomial regression equation is y=-0.0024x2+0.926x+1.1777 (R2=0.986) (Equation 2) with the Cho/Cr used as an independent variable. The average deviations were about 2.10-37.90 min and 1.69-40.87 min, respectively if the PMI was estimated by Equation 1 and Equation 2, respectively.@*CONCLUSION@#Our study indicates that there is a strong correlation between Naa/Cr, Cho/Cr and PMI, which may be used for estimation of PMI at different temperature.