Objective To analyze the mutation characteristics of GBA gene in one patient with Gaucher disease and platelet transfusion refractoriness.Methods A female patient with anemia and thrombocytopenia showed platelet transfusion refractoriness,and then the proband and her family were performed bone marrow smear,β-glucocerebrosidase activity in leukocytes (dried blood spot assay),Bultrasonography and gene sequencing examination and pedigree investigation.Results Pedigree investigation showed that the heterozygous mutation of GBA gene existed in the father,mother,son,daughter and sister of the proband.Bone marrow cytomorphologic examination showed that Gaucher cells accounted for 6.0％ in the female patient.The β-glucocerebrosidase activity in leukocytes was 3.78 nmol/(h · mg Pro).B-ultrasonography showed slightly splenomegaly.Gene sequencing found that the homozygous mutation of GBA gene,c.484A ＞ G,existed in the female patient.Conclusion The patients with Gaucher disease may appear platelet transfusion refractoriness due to hypersplenism.The mutation of GBA gene is the main pathogenic factor of the family with Gaucher disease.

Objective To evaluate the value of acoustic radiation force impulse imaging (ARFI) technique in differential diagnosis of renal tumors.Methods Totally 86 patients with 86 renal tumors underwent conventional ultrasound and ultrasound with ARFI technique.The shear wave velocity (SWV),virtual touch tissue imaging (VTI) score between tumors and the surrounding renal parenchyma,benign and malignant tumors were compared.Results In 86 patients with renal tumors,32 cases were renal benign tumors and all them were angiomyolipomas (AML),54 cases were renal malignant tumors,inculding 26 cases of renal clear cell carcinoma (ccRCC),8 cases of renal color cell carcinoma (cRCC),5 cases of renal papillary carcinoma (pRCC),15 cases of invasive urothelial carcinoma (IUC).The difference of SWV and VTI scores between lesions and the surrounding renal parenchyma were statistically significant (both P＜0.05).The SWV and VTI score renal benign tumors were lower than those of malignant tumors (both P＜0.05).The area under the ROC curve with SWV＞1.37 m/s or VTI score＞3.83 to distinguish benign and malignant renal tumors were 0.898,0.847,sensitivity were 88.9％,83.3％,specificity were 84.4％,78.1％,respectively (P＜0.05).Among renal malignant tumors,SWV and VTI score of ccRCC significantly higher than those of other malignant tumors,and the area under the ROC curve with SWV＞2.06 m/s or VTI score＞4.31 to distinguish ccRCC and other renal malignant renal tumors were 0.766,0.729,sensitivity were 65.4％,57.7％,specificity was 82.1％,78.6％,respectively (P＜0.05).Conclusion ARFI has important value in differential diagnosis of renal tumors,and can help to distinguish ccRCC with other renal malignant tumors.

Purpose To investigate the relationship of infundibular bladder neck formation with pelvic floor support structure injury and urethral sphincter defect and its significance in female stress urinary incontinence.Materials and Methods The pelvic floor images of seventy-four female patients with stress urinary incontinence treated in the outpatient Department of Lanzhou University Second Hospital from April 2015 to August 2016 were analyzed retrospectively.The location of the bladder neck,posterior vesicourethral angle and the infundibular bladder neck formation were observed by the transperineal ultrasound under the resting state and the maximum Valsalva status.Meanwhile the thickness of middle urethral sphincter was measured under resting state.At the same time,eighty-one women visiting our hospital for regular physical examination were enrolled as control group.Results The infundibular urinary bladder neck formation rate (66.2％) in the stress urinary incontinence group was significantly higher than that in the control group (4.9％) under maximum Valsalva state,the difference was statistically significant (P＜0.05).The extent of the bladder neck descending and posterior vesicourethral angle in the stress urinary incontinence group were notably higher than those in the control group,both of the difference was statistically significant (P＜0.05).Stress urinary incontinence was confirmed with urethral sphincter defect by urodynamics in nine patients,in whom the infundibular bladder neck occurred.The thickness of the middle urethral sphincter in these nine patients showed no obvious difference with that in patients without sphincter defect and subjects in normal control group (P＞0.05).Conclusion The infundibular bladder neck formation,which is closely related to the pelvic floor support structure dysfunction and urethral sphincter defect,is an important indication of stress urinary incontinence.However,the assessment of urethral sphincter defect through urethral sphincter thickness need to be further studied.

OBJECTIVE: To observe the time-effect of stimulation of the embedded poly glycolide-co-lactide (PGLA) suture in Sanyinjiao (SP6) area in normal human body, so as to provide an experimental evidence for clinical application of micro-invasion suture-embedding at an appropriate interval. METHODS: A total of 8 healthy volunteer students (3 boys and 5 girls, ranging in age from 24 to 27 years) were recruited in the present study. A piece of sterilized PGLA suture was implanted into the left SP6 using minimally invasive surgery after strict local skin disinfection. The fat-suppression T2 weighted magnetic resonance images (MRI, displaying local lesion after eliminating interference of fat tissue signals), and T2 mapping 8-echo train images were acquired before and 8 h, 3, 7, 10 and 14 days after PGLA suture embedment by using a MR imaging system. After transformation of the T2-mapping 8-echo train images into T2-mapping images by using a relevant software, the T2 values (meaning the relaxation time of the local muscle) of the left SP6 were measured, followed by analysis of the signal intensity of T2 weighted fat-suppression images and T2 values at different time-points. RESULTS: Before the suture embedding, no abnormal signals were found in the signal intensity of T2 weighted fat-suppression images. After PGLA suture embedment, the local signal intensity of T2WI fat-suppression images was relatively increased at the 8th h, and on day 3, 7, 10 and 14 relevant to pre-embedment, but gradually atte-nuated on day 10 and 14. The T2 values were significantly increased at the 5 time-points of post-embedment (all P<0.01), but without significant differences among the 8thh, the 3rd and 7thd (P>0.05), and being markedly lowered on day 14 relevant to day 7 (P<0.01) in spite of being still markedly higher than that of pre-embedding (P<0.01). CONCLUSION: The signal intensity of T2 weighted fat-suppression images and T2 values acquired from PGLA-suture-embedded SP6 acupoint area in healthy subjects may keep at least for 2 weeks, suggesting that the stimulating reaction of suture-embedment persists more than 14 days. Hence, when a micro-invasion embedding with PGLA suture performed, the interval of two weeks would be appropriate.

OBJECTIVETo investigate the expression and significance of CD151 in pituitary adenomas.

METHODSThirty-six pituitary adenomas were collected immediately after surgery together with five normal pituitary tissue. Real time-PCR, Western blot and immunohistochemistry analysis were performed to detect the expression of CD151 mRNA and protein in thirty-six pituitary adenomases and five normal pituitary tissues.

RESULTSThe expression of CD151 in all pituitary adenomases was observed to be significantly higher than that in normal pituitary tissues by Western blot, real time PCR, and immunohistochemistry analysis (P < 0.01). The expression levels of protein and mRNA in invasive pituitary adenomas were much higher than those in non-invasive pituitary adenomas (P < 0.01).

CONCLUSIONThe results suggested that the expression of CD151 was closely correlated with malignant degree of pituitary adenomas, which indicated the expression of CD151 was intimately correlated with occurrence and development of pituitary adenomas. Detecting CD151 might be a vital index to predict prognosis of pituitary adenomas.

Adenoma ; metabolism ; Blotting, Western ; Humans ; Immunohistochemistry ; Pituitary Gland ; pathology ; Pituitary Neoplasms ; metabolism ; Prognosis ; RNA, Messenger ; Real-Time Polymerase Chain Reaction ; Tetraspanin 24 ; metabolism

The present study aimed to find out dynamic changes of apoptosis in human cytomegalovirus (HCMV) infected cells and the influence of HCMV infection on activation of caspase3 and the expression of apoptosis-regulating genes, bcl-2 and fas mRNA. The sequential changes of apoptotic cell rate in high and low MOI (MOI= 2.5 and 0.25 respectively) of HCMV infected human embryonic lung fibroblasts (HELFs) at 1 h, 12 h, 24 h, 36 h, 48 h, 72 h and 96 h post-infection were measured by flow cytometry. The expression levels of caspase-3 protein and bcl-2 and fas mRNA in HCMV infected cells (MOI=0.25) at 72 h post-infection were detected by Western blot and in situ hybridization methods, respectively. It was found that the ratio of apoptotic cells in normal controls was consistently lower, but the rates in low and high MOI infected cells were gradually increased with time prolonged, reached peak at 96 h (8.85 %) and 72 h (25.63 %), respectively. By Western blot analysis, only a narrow band of 32 kD (1 kD=0. 992 1 ku) procaspase-3 was found in normal cells, but a wider procaspase-3 band and a much wider band of 17 kD proteins (p17) appeared in the infected cells. Meanwhile, the expression of bcl-2 mRNA was higher and that of fas mRNA was lower in the normal HELF cells, whereas there were significantly lower bcl-2 mRNA and higher fas mRNA expression levels in HCMV infected cells. It was concluded that HCMV was a stronger inducer of apoptosis in HELF cells. Caspase-3, as the marker of undergoing apoptosis,was expressed increasingly and activated in the infected cells, indicating its action in HCMV-inducing apoptosis. Down-regulating bcl-2 mRNA expression and up-regulating fas mRNA expression were also involved in the mechanism of HCMV-induced apoptosis.

A new type of floating osmotic pump of dipyridamole was designed in this paper. Apparatus three (Chinese Pharmacopeia 2005, appendix XD) was employed for in vitro dissolution test in order to evaluate the release and floating behavior in a same experiment. The system was optimized using central composite design-response surface methodology; where similarity factor (f2) between the dissolution profile of prepared formulation and the target dissolution profile was taken as dependent factor, usage amount of polyoxyethylene (X1, mg), NaCl (X2, mg) and pore former (PEG4000, X3, %) were taken as independent factors. The optimization model was f2 = -29.3 + 2.35X3 - 0.123X1(2) - 0.046X2(2) + 0.145X1X2 (R = 0.996). It was found that the dissolution profile could match the target dissolution profile under the condition of weight gain 8%-9%, X1 (20-34), X2 (30-57), X3 = 50. It is also found that the minimum usage percentage of pore former is 35.1%. The prediction results of the optimization model were good in the experiments.
Administration, Oral ; Delayed-Action Preparations ; Dipyridamole ; administration & dosage ; chemistry ; Drug Compounding ; methods ; Drug Delivery Systems ; Osmosis ; Osmotic Pressure ; Platelet Aggregation Inhibitors ; administration & dosage ; chemistry ; Polyethylene Glycols ; chemistry ; Sodium Chloride ; chemistry ; Solubility ; Surface Properties

AIMTo investigate the in vitro influencing factors on drug release from matrices with sodium alginate as the hydrophilic polymer.

METHODSSodium alginate hydrophilic matrix tablets were prepared by direct compression method with theopylline as a model drug. The in vitro influencing factors on drug release behavior from matrices were studied by investigating the swelling, water uptake and erosion characteristics of pure sodium alginate matrices.

RESULTSThe results showed that drug release rate and drug release mechanism were both related to the viscosity of sodium alginate used in matrices, pH values and ionic strength of dissolution media and rotation speeds.

CONCLUSIONSodium alginate can be tailor-made to suit the demands of applicants in sustained delivery systems as a good candidate of hydrophilic polymer.

Alginates ; administration & dosage ; chemistry ; Chemistry, Pharmaceutical ; Delayed-Action Preparations ; Drug Carriers ; Drug Delivery Systems ; Glucuronic Acid ; administration & dosage ; chemistry ; Hexuronic Acids ; administration & dosage ; chemistry ; Hydrogen-Ion Concentration ; Solubility ; Tablets ; Theophylline ; administration & dosage ; chemistry ; Viscosity

OBJECTIVETo study the preparation of cantharidin entrapped non-ionic surfactant vesicle (noisome)and evaluate its quality.

METHODThe niosome loaded with cantharidin was prepared using injection method by non-ionic surfactants as the carrier. An centrifugation separation method and HPLC analysis method of the cantharidin were established to detect the entrapment efficiency. The optimum preparation technology was established by a orthogonal experiment. The morphology, and particle size were studied to evaluate the preparation.

RESULTThe average size of niosomes were (209. 8 +/- 0.5) nm. The entrapment efficiency of the CTD-NS was (27.5% +/- 2.0%) and Zeta potential was (41.5 +/- 0.65) mV.

CONCLUSIONThe preparation of cantharidin noisome by TweenA and SpanB is practicable and successful. These experiments can be the basement of developing targeting drug delivery system.

Cantharidin ; administration & dosage ; chemistry ; isolation & purification ; Chromatography, High Pressure Liquid ; Drug Delivery Systems ; Liposomes ; administration & dosage ; chemistry ; Particle Size ; Surface-Active Agents ; administration & dosage

AIMTo study the erosion behaviour during dissolution of matrices using different molecular weight polyethylene oxide (PEO) as hydrophilic polymer.

METHODSPEO hydrophilic matrix tablets with no added drug and excipients were prepared by direct compression method. The erosion rates of matrices comprised of pure or blending PEO polymers were evaluated in distilled water at (37 +/- 0.5) degrees C with rotating rate of 50 r x min(-1). The relationship between PEO molecular weight and erosion rate of matrices was investigated by experimental and mathematical model methods.

RESULTSThe gravimetric erosion experimental results indicated that the power-law relationship which relates the polymer erosion rate and weight average molecular weight: k infinity (M(w)) -1.30 4 was proved to have great potential utility in predicting the degree of polymer erosion of matrices comprised of either intermediate molecular weight (97. 98 x 10(4) - 553. 36 x 10(4)) or blends of lower and higher molecular weight polymers. Based on the semiempirical equation for mass transfer rate: Jp = (fp < Dp > (2/3) v (-1/6) omega (1/2)) C(p,dis), a theoretical mathematic model was developed for describing the relationship between PEO erosion rate and PEO weight average molecular weight: Jp infinity M(-1.241), where the exponent of -1. 241 was very close to the exponent of - 1. 130 4 obtained from practical determination.

CONCLUSIONPEO was proved to be a good candidate of hydrophilic polymer and appeared to have great potential for controlled release applications. The mathematic model presented together with the utilization of the erosion behaviour discussed in our study could provide a guide line to predict the degree of polymer erosion for other intermediate polymer grades and / or mixture of the polymers utilized in this study, which could play an active role in designing PEO hydrophilic sustained delivery systems.

Delayed-Action Preparations ; chemistry ; Drug Carriers ; chemistry ; Drug Delivery Systems ; Drug Stability ; Excipients ; chemistry ; Molecular Weight ; Polyethylene Glycols ; administration & dosage ; chemistry ; Polymers ; Solubility ; Tablets ; Water