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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.
Subject(s)
Humans , Pregnancy , Female , Ring Chromosomes , In Situ Hybridization, Fluorescence , Karyotyping , Karyotype , MosaicismABSTRACT
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.
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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.
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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.
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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.
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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.