Background Human paired box gene 6 (PAX6)encodes a transcriptional regulator.It is essential for eye and brain morphogenesis.Mutation of PAX6 gene isresponsible for many congenital ocular malformations,such as aniridia.Aniridia is a autosomal dominant inheritance mode.Objective In this study,PAX6 gene mutation was analyzed in three Chinese families with aniridia through polymerase chain reaction (PCR) and sequencing.Methods The blood specimens were collected from 5 suffers and normal individuals of 3 aniridia families to extract DNA.The sequences of extron 4-13 were designed based on PAX6 gene.The primer was amplified by PCR and sequenced and compared with the known PAX6 gene sequence.This study complied with Declaration of Helsinki and approved by ethic committee of Sichuan University.Written informed consent was obtained from each individual before any medial examination.ResultsThere were 5 suffers in the 3 families.A heterozygous mutation (c.718 C＞T) in PAX6 gene was identified in 2 patients of family A.This mutation caused an amino acid substitution of arginine to termination codon at position 240 ( p.Arg240X) of PAX6 protein.No similar change in the normal families.No any the alteration of PAX6 gene was detected in family B whatever suffers and normal individuals.In family C,a deletion mutation of c.331 delG ( p.Val111 SerfsX13 ) in PAX6 gene was found.The deletion of one base caused frame shift mutation of PAX6 protein,and no such mutation was seen in other families.Conclusions Mutation of PAX6 gene appeares to be causative mutations of the disease in family A and C.

OBJECTIVETo compare and assess the effectiveness of leukocyte-filtered platelet and standard platelet concentrates transfusion in preventing platelet transfusion refractoriness (PTR) and human leukocyte antigen (HLA)-alloimmunization.

METHODSRandomized controlled trials (RCTs) or quasi-RCTs comparing leukocyte-filtered platelet with standard platelet concentrates transfusion (up to December 31, 2009) were searched and identified from Medline, EMBASE, The Cochrane Library, and CBM. A meta-analysis was conducted with Cochrane Collaboration's RevMan 5. 0.

RESULTSThe search identified 558 citations in total, in which 7 articles in English were finally included in the meta-analysis. The analysis showed that compared with standard platelet concentrates transfusion, leukocyte-filtered platelet transfusion significantly decreased PTR [ RR = 0. 59, 95% CI (0. 42, 0. 82) , P = 0. 002 ] and HLA-alloimmunization [ RR = 0. 49,95% CI (0. 33, 0. 74) , P =0. 0006]. Subgroup analysis showed that HLA-alloimmunization was significantly reduced by leukocyte-filtered platelet transfusion among the patients with acute myelocytic leukemia [ RR =0.42, 95% CI (0.32, 0.56), P <0. 00001], while no significant difference was detected in patients with acute lymphoblastic leukemia because of the limited sample size [ RR = 0. 50, 95% CI (0. 10, 2.41) , P =0. 39].

CONCLUSIONSThe current evidence shows that leukocyte-filtered platelet transfusion can prevent PTR and HLA-alloimmunization more effectively than standard platelet transfusion. Well-designed large-scale RCTs are still needed to further confirm this finding.

Filtration ; HLA Antigens ; immunology ; Humans ; Leukocytes ; immunology ; Platelet Transfusion ; methods ; Randomized Controlled Trials as Topic

OBJECTIVETo find out how GATA-1 and GATA-2 behave in the bone marrow of patients with Monge's disease.

METHODSThe levels of mRNA in mononuclear cells (MNC) and proteins of GATA-1 and GATA-2 in the bone marrow of patients with Monge's disease and controls were determined by RT-PCR and immune cytolysis chemical method.

RESULTS(1) All patients and controls expressed GATA-1 mRNA (Monge's disease 1.033 +/- 0.146, Control 0.458 +/- 0.076) and GATA-2 mRNA (Monge's disease 0.451 +/- 0.073, Control 0.185 +/- 0.074). All patients expressed both GATA-1 (positive cell counts 77.3 +/- 33.3, positive score 135.4 +/- 75.4) and GATA-2 ( positive cell counts 29.4 +/- 11.4, positive score 48.4 +/- 19.7). All the controls expressed GATA-1 (positive cell counts 18.1 +/- 11.3, positive score 24.2 +/- 13.4) while 12 of 20 controls expressed GATA-2 ( positive cell counts 5.4 +/- 3.0, positive score 7.3 +/- 4.2). The expression of mRNA and proteins of GATA-1 and GATA-2 in Monge's disease were higher than in controls (P < 0.01). (2) There was a positive correlation between GATA-1 and Hb (P < 0.01), as did between mRNA and proteins of GATA-1 and GATA-2. (3) Both the proteins of GATA-1 and GATA-2 located only in the cytoplasm but not the nucleus.

CONCLUSIONSTwo of inherent genes, GATA-1 and GATA-2 which were expressed at higher levels in patients with Monge's disease than in controls might play significant roles in the pathogenesis of Monge's disease.

Adult ; Altitude Sickness ; metabolism ; GATA1 Transcription Factor ; metabolism ; GATA2 Transcription Factor ; metabolism ; Humans ; Male ; Polycythemia ; metabolism ; RNA, Messenger ; metabolism

OBJECTIVETo review the effects of the active components of Chinese herbs on drug metabolizing-enzymes.

METHODRelevant research papers reported in recent years were consulted and studied.

RESULTThe drug metabolizing-enzymes cytochrome P450 and UDP-glucuronosyl transferase and glutathione S-transferase were inhibited or induced by the flavonoids, furocoumarins, and the active components extracted from salvia miltiorrhiza and hypericum perforatum, and so on, which therefore slowed or sped metabolism of other drugs in vivo and in vitro.

CONCLUSIONMuch attention should be paid to the metabolic interaction of the Chinese herbs when coadministered with other drugs.

Animals ; Cytochrome P-450 Enzyme System ; metabolism ; Flavonoids ; isolation & purification ; pharmacology ; Furocoumarins ; isolation & purification ; pharmacology ; Glucuronosyltransferase ; metabolism ; Glutathione Transferase ; metabolism ; Humans ; Plants, Medicinal ; chemistry ; Salvia miltiorrhiza ; chemistry

This study is to explore the possible mechanisms of the antidepressant-like effect of agmatine. By using two traditional "behavior despair" model, tail suspension test and forced swimming test, we examined the effects of some monoamine receptor antagonists (including beta-adrenergic receptor antagonist propranolol, beta-adrenergic receptor antagonist/5-HT1A/1B receptor antagonist pindolol, alpha2-adrenergic receptor antagonists yohimbine and idazoxan and 5-HT3 receptor antagonist tropisetron) on the antidepressant-like action of agmatine in mice. Activity of adenylate cyclase (AC) in the synapse membrane from rat frontal cortex was determined by radioimmunoassay. Single dose of agmatine (5-40 mg x kg(-1), ig) dose-dependently decrease the immobility time in tail suspension test in mice, indicating an antidepressant-like effect. The effect of agmatine (40 mg x kg(-1), ig) was antagonized by co-administration of beta-adrenergic receptor antagonist/5-HT1A/1B receptor antagonist pindolol (20 mg x kg(-1), ip), alpha2-adrenergic receptor antagonists yohimbine (5-10 mg x kg(-1), ip) or idazoxan (4 mg x kg(-1), ip), but not beta-adrenergic receptor antagonist propranolol (5-20 mg x kg(-1), ip) and 5-HT3 receptor antagonist tropisetron (5-40 mg x kg(-1), ip). Agmatine (5-40 mg x kg(-1), ig) also dose-dependently decrease the immobility time in forced swimming test in mice. The effect of agmatine (40 mg x kg(-1), ig) was also antagonized by pindolol (20 mg x kg(-1), ip), yohimbine (5-10 mg x kg(-1), ip), or idazoxan (4 mg x kg(-1), ip). Incubation of agmatine (0.1-6.4 micromol x L(-1)) with the synaptic membrane extracted from rat frontal cortex activated the AC in a dose-dependent manner in vitro. While the effect of agmatine (6.4 micromol x L(-1)) was dose-dependently antagonized by pindolol (1 micromol x L(-1)) or yohimbine (0.25-1 micromol x L(-1)). Chronic treatment with agmatine (10 mg x kg(-1), ig, bid, 2 w) or fluoxetine (10 mg x kg(-1), ig, bid, 2 w) increased the basic activity, as well as the Gpp (NH)p (1-100 micromol x L(-1)) stimulated AC activity in rat prefrontal cortex. These results indicate that regulation on 5-HT1A/1B and alpha2 receptors, and activation AC in the frontal cortex is one of the important mechanisms involving in agmatine's antidepressant-like action.
Adenylyl Cyclases ; metabolism ; Adrenergic alpha-Antagonists ; pharmacology ; Adrenergic beta-Antagonists ; pharmacology ; Agmatine ; administration & dosage ; pharmacology ; Animals ; Antidepressive Agents ; administration & dosage ; pharmacology ; Behavior, Animal ; drug effects ; Depression ; metabolism ; physiopathology ; Dose-Response Relationship, Drug ; Fenclonine ; pharmacology ; Idazoxan ; pharmacology ; Male ; Mice ; Pindolol ; pharmacology ; Random Allocation ; Rats ; Rats, Wistar ; Receptors, Biogenic Amine ; antagonists & inhibitors ; Serotonin 5-HT1 Receptor Antagonists ; Swimming ; Synapses ; enzymology ; Yohimbine ; pharmacology

OBJECTIVETo observe the effects of ginkgolides on gene expression of hepatic cytochrome P-450 in rats.

METHODSprague-Dawley rats were administered ginkgolides (100 mg x kg(-1) body weight) through oral gavage once daily for four consecutive days. The level of gene expression in liver tissues was analyzed by competitive reverse transcription-polymerase chain reaction (competitive RT-PCR).

RESULTA single and prospective band of CYP1A1, CYP1A2, CYP2B1/B2, CYP2C11, CYP2E1, CYP4A1 and cyclophilin was observed after polymerase chain reaction (PCR) when the reactive system of reverse transcription (RT) had no target RNA, which confirmed the competitor had a specific capacity to bind to the CYP or cyclophilin primer. CYP1A1 mRNA was not dectectable in the livers of untreated control rats and ginkgolides-treated rats. The levels of CYP2C11 and CYP2E1 were not changed by ginkgolides treatment. In contrast, the levels of gene expression for CYP1A2 and CYP2B1/B2 were decreased, however, the levels of gene expression for CYP3A1 and CYP4A1 in ginkgolides group were distinctly increased compared with the control.

CONCLUSIONA specific effect of ginkgolides on cytochrome P-450 gene expression was observed in this investigation. Ginkgolides had various effects on different cytochrome P-450 isoforms.

Animals ; Aryl Hydrocarbon Hydroxylases ; biosynthesis ; genetics ; Cytochrome P-450 CYP1A1 ; biosynthesis ; genetics ; Cytochrome P-450 CYP1A2 ; biosynthesis ; genetics ; Cytochrome P-450 CYP2B1 ; biosynthesis ; genetics ; Cytochrome P-450 CYP3A ; Cytochrome P-450 Enzyme System ; biosynthesis ; genetics ; Cytochrome P450 Family 4 ; Gene Expression Regulation ; Ginkgo biloba ; chemistry ; Ginkgolides ; isolation & purification ; pharmacology ; Liver ; metabolism ; Male ; Plants, Medicinal ; chemistry ; RNA, Messenger ; biosynthesis ; genetics ; Random Allocation ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo study the anatomy of the anterolateral thigh perforators flap and explore its clinical application in the reconstruction of head and neck defects.

METHODSFive adult fresh cadavers were prepared, and morphosis and blood supply of anterolateral thigh flap perforators were examined by microsurgery anatomy. During dissections, the following parameters were recorded: number and type of perforators vessels, diameter of perforators, pedicle length, diameter of the original vessels, route (infra fascia and supra fascia); its position were located by anatomical landmark.

RESULTSThere were an average of (4.4 +/- 1.8) anterolateral thigh perforators flaps (ALTP flap) in each specimen with 68.2% musculocutaneous perforator and 31.8% septocutaneous perforator. The mean pedicle length of the largest perforator was (10.86 +/- 1.18) cm (8.29-14.44) cm, and its location was constantly concentrated in the superolateral region of the midpoint of the line linking the anterosuperior iliac spine and superolateral border of the patella. The distance between surface location of the largest perforator and the midpoint was (3.25 +/- 0.69) cm. Original vessel was mostly descend branch of lateral circumflex femoral artery/vein with average diameter of (3.16 +/- 0.59) / (3.08 +/- 0.02) mm.

CONCLUSIONALTP flap has constant position, large caliber, and long pedicle and therefore is useful for operation and option in reconstruction of head neck defects.

Aged ; Autopsy ; Head ; surgery ; Humans ; Middle Aged ; Neck ; surgery ; Reconstructive Surgical Procedures ; Surgical Flaps ; blood supply ; Thigh ; blood supply ; surgery

Objective:To explore the application and effect of the teaching of standardized residency training based on the skill module tutorial system.Methods:Through the selection and employment of skill module tutorial system, 45 pediatric residents of batch 2016 in Hunan Children's Hospital were trained from such aspects of their professional theoretical knowledge, the skill operation ability and comprehensive ability were compared and analyzed. In addition, through the questionnaire survey, the training residents gave feedback to the skill mentors, and the passing rates of graduation skills examination in 2017, 2018 and 2019 of Pediatric residents in our hospital were analyzed and compared. T test and chi-square test were performed by SPSS 17.0.Results:After the training of the skill module tutorial system, the professional theoretical knowledge score (86.45±7.59), skill operation score (89.78±6.04) and comprehensive ability score (84.09±8.43) were significantly higher than those before the training ( P<0.05). The passing rate of the first graduation skills examination in 2019 was 93.33%, which was significantly higher than 57.14% in 2017, with a significant difference between the two groups ( χ2=28.45, P<0.01), compared with the rate of 2018(80.00%), which also had a statistical difference ( χ2=6.365, P<0.05). Conclusion:The training method of skill module tutorial system is not only helpful to rapidly improve the professional skills and post competency for the residents, but also benefit for training of teachers and improvement of their comprehensive quality, which is worth popularizing and applying.

Objective To study the anatomy of internal mammary artery perforator(IMAP) flap. Methods Five fresh cadavers were used, the morphology and blood supply of IMAP flap were examined by the method of microsurgical anatomy. During dissections, following parameters were recorded: number, type and diameter of perforators vessels, course( infra fascia and supra fascia) and location of perforators vessels. Results All 1st -4th IMAPs were found in 10 specimen. Average diameter of 1st -4th IMAP artery/vein wasasfollows(x±s): (1.29+±.28)mm,(1.46±0.22)mm; (1.1±0.27)mm,(1.41±0.39)mm; (0. 87 ± 0.23 ) mm, ( 1.17 ± 0. 15 ) mm; (0.92 ± 0.22 ) mm, ( 1.12 ± 0.14 ) mm. The largest perforator was mostly first or second IMAP. The angiosomal territory of IMAPs extended from the clavicle superiorly to the xiphisternum inferiorly, from the midiine medially to anterior axillary fold laterally. Conclusion IMAP flap offers an option in reconstruction of head neck defects and should be considered as an alternative to the deitopectoral flap and pectoralis major flap in some patients.

OBJECTIVE To establish a RP-HPLC method for determination of simvastatin and its related substance lovastatin. METHODS The chromatographic conditions were: a Waters Symmetry C18 column (250 mm×4.6 mm, 5 μm), a mixture of acetonitrile-sodium dihydrogen phosphate (pH 5.4) (65∶35) as mobile phase, flow rate 1.0 mL·min-1, and detected at 238 nm. RESULTS The linear ranges of lovastatin and simvastatin were 0.3～3.0 μg·mL-1,0.03～0.30 mg·mL-1, respectively. The average recovery were 100.2% (RSD=1.5%) and 99.4% (RSD=1.7%), respectively. CONCLUSION The method is simple, quick, sensitive, accurate, and reproducible. It can be used to the quality control of synthetic simvastatin products.