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<p><b>OBJECTIVE</b>To delineate the phenotypic characteristics of 22q11.2 deletion syndrome and the role of CRKL gene in the pathogenesis of cardiac abnormalities.</p><p><b>METHODS</b>G-banded karyotyping, single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization (FISH) were performed on a fetus with tetralogy of Fallot detected by ultrasound. Correlation between the genotype and phenotype was explored after precise mapping of the breakpoints on chromosome 22q11.2. SNP array was also performed on peripheral blood samples from both parents to clarify its origin.</p><p><b>RESULTS</b>The fetus showed a normal karyotype of 46,XY. SNP array performed on fetal blood sample revealed a 749 kb deletion (chr22: 20 716 876-21 465 659) at 22q11.21, which encompassed the CRKL gene but not TBX1, HIRA, COMT and MAPK1. Precise mapping of the breakpoints suggested that the deleted region has overlapped with that of central 22q11.2 deletion syndrome. SNP array analysis of the parental blood samples suggested that the 22q11.21 deletion has a de novo origin. The presence of 22q11.21 deletion in the fetus was also confirmed by FISH analysis.</p><p><b>CONCLUSION</b>Central 22q11.21 deletion probably accounts for the cardiac abnormalities in the fetus, for which the CRKL gene should be considered as an important candidate.</p>
Subject(s)
Adult , Female , Humans , Male , Pregnancy , Adaptor Proteins, Signal Transducing , Genetics , Chromosome Deletion , Chromosomes, Human, Pair 22 , Genetics , DiGeorge Syndrome , Diagnosis , Embryology , Genetics , Fetal Diseases , Diagnosis , Genetics , Genotype , In Situ Hybridization, Fluorescence , Nuclear Proteins , Genetics , Phenotype , Prenatal DiagnosisABSTRACT
Objective:To explore the effect of 1,25-dihydroxyvitamin D3 on the mast cell tryptase (MCT) in asthmatic guinea pigs. Methods:A total of 60 male or female healthy guinea pigs were randomly divided into control group (group A), asthmatic group(group B), and 1,25-dihydroxyvitamin D3 group(group C), with 20 cases in each group. To establish asthmatic guinea pig models, 1ml peanut oil was filled into stomach in the morning in group A and group B , and 1ml peanut oil with 1,25-dihydroxyvitamin D3 was filled into stomach in group C. Airway resistance (Re) of asthmatic guinea pigs was detected, and the bronchoalveolar lavage fluid (BALF) cells were counted. Lung tissue with HE and MCT immunohistochemical staining were used to observe the pathological changes in lung tissue and the distribution of MCT. Results:After injection of different concentration of acetylcholine chloride, the Re in group B and group C were increased significantly compared with group A (P<0.05);compared with group B, the Re in group C were decreased significantly (t=-5.385, -5.761, -6.184,-13.574, P<0.05);the total number of BALF cells and eosinophils were increased significantly in group B and C (t=19.618, 9.598, 10.854, 5.388, P<0.05);compared with group B, the total number of BALF cells and eosinophils in group C was decreased significantly (t=-5.555,-5.392, P<0.05);the number of tryptase positive cells in group B was increased significantly than that in group A (t=21.312, P<0.05), and in addition to the alveolar septum and submucosa, the cells were also distributed around blood vessels and outside the cells; the number of tryptase positive cells in group C was decreased significantly compared with group B, and the difference was statistically significant (t=5.043, P<0.05). Conclusions:After the asthmatic guinea pigs are treated with 1,25-dihydroxyvitamin D3, their BALF, Re, infiltration degree of inflammatory cells in the trachea and lung tissue and airway inflammatory reaction are reduced significantly. 1,25-dihydroxyvitamin D3has a certain inhibiting effect on the activation of mast cells and the release of MCT granules.
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A series of [1,3]dioxolo[4,5-f]isoindolone derivatives were designed, synthesized and evaluated as inhibitors of acetylcholinesterases (AChE). Furthermore, their effects on memory impairment of mice induced by scopolamine were investigated with step-through test. The results suggested that most of the target compounds exhibited potential inhibition on AChE with IC50 values at micromolar range. Compounds I1 (IC50 value of 0.086 μmol · L(-1)) and I2 (IC50 value of 0.080 μmol · L(-1)) showed the strongest AChE inhibitory activity, which are equipotent to donepezil (IC50 value of 0.094 μmol · L(-1)). Moreover, compounds I1-I4 could improve the memory impairment induced by scopolamine in mice.
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[ ABSTRACT] AIM:To investigate the depressant effect of FK228 combined with rapamycin on the human breast cancer cell line MCF-7 and MDA-MB-435.METHODS:FK228, a new histone deacetylase inhibitor, and rapamycin, the specific inhibitor of the mammalian target of rapamycin ( mTOR) protein, were used in the study.MCF-7 cells and MDA-MB-435 cells were exposed to different concentrations of FK228 and rapamycin.The inhibitory rate of cell growth was de-termined by SRB assay.Combination index ( CI) was used to evaluate the interaction between FK228 and rapamycin.The expression of the apoptotic proteins, cycle proteins and nucleic acid proteins were detected by Western blotting.The cell cycle was analyzed by flow cytometry.RESULTS: Both FK228 and rapamycin showed growth inhibitory effects on the breast cancer cell lines in a time-and dose-dependent manner.CI of the 2 drugs was less than 1 when the inhibitory rate of the cell growth was 50%effective dose (ED50)~ED70, indicating a synergistic effect.The combination therapy of FK228 with rapamycin increased the apoptotic proteins, and induced the down-regulation of phosphorylated Akt and over-expres-sion of caspase-3 compared with a single use of the drugs.The combination therapy of FK228 with rapamycin reduced the cycle proteins, and the cell cycle was arrested in G2/M.The levels of phosphorylated H2AX and acetylated H3 were ob-viously increased after combination therapy.CONCLUSION:The combination therapy of FK228 with rapamycin inhibits the cell proliferation and increases apoptosis with a synergistic effect, which may become a new trend for treating endometri-al cancer.
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Objective To analyze and summarize the clinical features of delayed occurrence of senile asthma,to add the knowledge and understanding of the disease. Methods To retrospectively analyze clinical data of the cases of senile asthma treated in our hospital,all the cases were divided into groups of early onset senile asthma and delayed occurrence senile asthma,according to the age of first onset.Then related indexes were analyzed,to summarize the clinical features of group of delayed occurrence of senile asthma. Results There were 28 cases of delayed occurrence of senile asthma,accounting for 34.6% of total cases.Compared to early onset group,there was no significant difference (all P＞0.05) between two groups for the following items such as age,allergic history and positive rate of family's history,disease causes,clinical symptoms,basic diseases and complications,proportion of severe cases,rate of misdiagnosis and mistreatment,proportion of standardized treatment and un-standardized treatment,prognosis of diseases and mortality.Both groups had low rate of knowledge and application on PEF monitoring equipment and ACT score.The period of misdiagnosis and mistreatment for delayed occurrence group was shorter than the early onset group (P＜0.05＝; the seasonal nature and day and night pattern was significant in delayed occurrence group (P＜0.05＝. Conclusion Late onset elderly asthma had the features such as shorter course of the disease,relatively obvious onset rule during day and night,and obvious symptoms during night,which are different from that of early onset group.
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Objective To investigate the protective effects of pentoxifylline on gastric mucosal injury in rats with endotoxemia. Methods 30 Wistar rats were randomly divided into 3 groups : sham operated control group (C group) ,LPS group and PTX group. The serum tumor necrosis factor-α(TNF-α) and interleukin-1β(IL-1β) levels in each group were measured. The immunohistochemistry was used to assess the expression of the ICAM-1 in the gastric mucosal tissues. Results The levels of TNF-α and IL-1β in serum in LPS group were higher than those in C group (P <0.01). The level of ICAM-1 in the gastric mucosal tissues in LPS group was higher than those in sham operated control group(P < 0.01). After FIX treatment, the levels of TNF-α and IL-1β in serum in PTX group were lower than those in LPS group(P < 0.01) and the level of ICAM-1 in the hepatic tissues in PTX group was also lower than those in LPS group(P <0.01). Conclusions TNF-α,IL-1β and ICAM-1 take part in the progress of gastric mucosal inju-ry in rats with endotoxemia. PTX can eliminate the gastric mueesa injury and protect the gastric mucosal tissues by downregulating the levels of TNF-α, IL-1β and ICAM-1.
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AIM: To investigate the effect of Changankang Capsule (Radix Astragali, Rhizoma Coptidis, Flos Lonicerae, etc.) on acute inflammation and immune function in mice. METHODS:Swelling ears induced dimethylbenzene and capillary vessel increase permeability induced by acetic acid, 2,4 diniitrofluorobenzene (DNFB) induced delayed type hypersensitivity (DTH) was adoptedas mouse model. extent of swelling ears, lymphocyte proliferation and the Tumor necrosis factor ? and interleukin 1 ? in serum were observed. RESULTS:Changankang had significantly anti inflammation in mouse's acute inflammatory model and could inhibit swelling ears and lymphocyte proliferation, decreased the level of TNF ?, but made little iufluence on IL 1? change. CONCLUSION:Changankang Capsule has the effect on anti inflammation and inhibitory effect on the DTH. Its action mechanism may be related to the inhibition of the production of TNF ?.
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AIM: To study the action of Shugan Pills (SHGP) (Fructus Toosendan, Rhizoma corydalis, Radix Paloniae Albe, Radix Aucklandiae, Cortex Magnoliae Officinalis, Fructus Aurantii, etc.) on treatment of epigastralgia. METHODS: The analgesic effect was tested by the hot plate test and writhing method. The anti gastric ulcer action of SHGP was observed on the gastric ulcer induced by water immersion stress, reserpine and absolute ethyl alcohol. The effect on gastric secretion in rats was studied with pylorus ligation. The effect on gastrointestinal motility was observed by determination of gastric emptying and small intestinal propulsion ability in mouse. RESULTS: SHGP enhanced hot pain threhshold and decreased the number of twisting body in mouse. SHGP markedly inhibited gastric ulcer induced by water immersion stress, reserpine and absolute ethyl alcohol. SHGP significantly inhibited the secretion of gastric acid and pepsin and promoted the secretion of gastric mucus. SHGP markedly delayed gastric emptying in normal mouse and when gastric emptying and small intestinal propulsion was stimulated by neostigmine. SHGP faintly strengthed the effect of atropine on inhibition of gastrointestinal motility. CONCLUSION: Shugan Pills could have analgesic effect, anti gastric ulcer action, it inhibited the secrection of gastric juice and the activity of gastric smooth muscle. These effects might be the pharmacological mechanisms of SHGP on treatment of epigastralgia.
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AIM:To explore the effect of Xiangshahewei Pill(Radix Aucklandiae,Rhizoma Cyperi,Fructus Amomi,etc.)on secretion in anorectic rat model induced by Fenfluramine.METHODS:Anorectic rat model was induced by Fenfluramine in dose of 15 mg/kg for 8 days.Xiangshahewei Pill was administered orally to the rats also for 8 days.The volume of gastric juice,total gastric acid,mucus,acidity of gastric acid and activity of pepsin of rats were measured.RESULTS:Xiangshahewei Pill could improve the turbulence of gastric secretion in anorectic rat induced by Fenfluramine.Xiangshahewei Pill in dose of 0.75 g/kg(P
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AIM: To observe the effect of Chang'ankang Capsule (Radix Astragali, Rhizoma loptidis, Flos Lonicerae, etc.) on rat's colitis induced by trinitrobenzene sulfonic acid (TNBS) and investigate its mechanism. METHODS: The rat's colitis was induced by TNBS and ethanol, one week later the rats were given the medicine for 14 days. The 21st day the mucosal damage index (CMDI) and histopathology (HP) of the colon were observed. Meanwhile the level of myeloperoxidase (MPO), nitric oxide (NO), superoxide dismutase (SOD), glutathione peroxidase (GSH-PX), maiondiadehyde (MDA), catalase (CAT) were detected. RESULTS: CMDI and HP, biochemistry in model rats showed that the models were successful. Chang'ankang groups significantly alleviated CMDI, HP, and improved the high level of MPO, NO and MDA, promoted the content of SOD, GSH-PX, CAT. CONCLUSION: Treatment with Chang'ankang shows beneficial effects on rat's ulcerative colitis by alleviating damage of free radical and NO and leukocyte.
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OBJECTIVE:To study the pharmacological action of Qiweikaixin Granules.METHODS:Brain injured-olfac?tory bulb damage type was adopted,and the rats were divided into normal control group,pseudo-operation group,model group,hydrochloric acid clomipramine group and Qiweikaixin Granules(high,moderate,mild dosage)group,the behaviors of each group was observed,the contents of adrenocorticotrophic hormone corticotrophin(ACTH)and cortisol(COR)in plasma were also observed.RESULTS:In both the open field test and the heliophobic test,the behaviors of the model group had obvious changes;both the Qiweikaixin Granule group and the hydrochloric acid clomipramine group significantly resisted the change of behaviors of rats;the contents of ACTH and COR in the plasma of the model rats group increased significantly(P