Objective To evaluate the diagnostic value of dual-source CT angiography (DSCTA) for intracranial aneurysms.Methods The data of DSCTA and digital subtraction angiography (DSA) were collected from 95 patients with subarachnoid hemorrhage (SAH).The efficacies of detection and description of morphologic features of intracranial aneurysms were analyzed retrospectively.Results A total of 117 aneurysms in 88 patients were detected with DSCTA.Two patients were suspected of having aneurysms,and no aneurysrms were detected in 5 patients.These patients were reexamined with DSA,4 were diagnosed as having aneurysm,and the aneurysms were not detected in 3 patients.DSA results were considered as gold standard,the specificity,sensitivity and accuracy of DSCTA for the detection of intracranial aneurysms were 100％,96.7％and 96.8％,respectively.The larger volume of intracranial aneurysm was,the higher the sensitivity of DSCTA diagnosis would be.Even for small aneurysms,the sensitivity of DSCTA diagnose was more than 90％.In addition,tmeasurement results of the maximum diameter and neck width of aneurysms measured by DSCTA were almost consistent with DSA.Condclusions SCTA is a non-invasive,quick,reliable,and effective method,and can provide accurate imaging information for surgery.The specificity and sensitivity of the diagnosis of aneurysms with DSCTA are almost the same with DSA.It has more advantages than DSA in the emergency operation of intracranial aneurysms.

Adenine ; analogs & derivatives ; Fanconi Syndrome ; Humans ; Organophosphonates

Objective To screen for genomic copy number variants(CNVs)in six neonates with Pierre Robin sequence(PRS)by Affymetrix 2.7 M chip to identify possible loci related to PRS.Methods Six neonates with PRS admitted into the Department of Neonatology,Children's Hospital of Fudan University from June 2009 to May 2010 were enrolled in this study.CNVs were detected by Cytogenetic Whole Genome 2.7 M array.Rare CNVs with potential clinical significance that deletion segments' size ＞50 kb and duplication segments' size ＞200 kb were selected based on the analysis of Chromosome Analysis Suite(ChAS)software,false positive CNVs and segments of normal population were excluded.The identified CNVs were compared with those in relative published literatures.Results(1)Among 6 PRS patients,two patients had facial deformation,two had congenital heart defects,one had congenital dysplasia of the laryngeal cartilage and one had choroidal space occupying lesion.(2)Seven rare CNVs whose size from 51-11 956 kb were identified in four neonates,including a 739 kb duplication on lp26.23-p36.22,a 6273 kb deletion on lq43-44,a 51 kb and a 55 kb deletions on 14q32.31,a 1022 kb duplication on 14q11.1-11.2,a 11 956 kb duplication on 20p13 and a 105 kb deletion on 4q23.3.(3)Published literatures showed that deletions of 1q43-44 and 14q32.31 might relate to micro/retrognathia and abnormal palate.Region of chromosome 1q43-q44 contained AKT3 and heterogeneous nuclear ribonucleoprotein U(hnRNPU)genes,and the haploinsufficiency of AKT3 and hnRNPU genes might cause developmental human microcephaly and agenesis of the corpus callosum,speech delay and seizures respectively.Region of chromosome 14q32.31 contained some C/D small nucleolar RNA,and the human imprinted 14q32 domain shared common genomic features with the imprinted 15q11-q13 loci.Conclusions This study established a method to discover whole genome CNVs in identifying novel submicroscopic deletions and duplications.Reviewing of published literatures suggested that deletions of chromosome 1q43-q44 and 14q32.31 might cause Pierre Robin sequence.

OBJECTIVE To investigate the effect of Radix Isatidis and its constituents indigo and in?dirubin on two principal subtypes of organic cation transporters(OCT)OCT1,OCT2 in vivo in mice. METHODS Decoction of Radix Isatidis (DRI) 1.6 and 6.4 g · kg-1,granules of Radix Isatidis (GRI) 0.615 and 2.460 g·kg-1,indigo 0.008 and 0.640 mg·kg-1 and indirubin 0.0192 and 1.536 mg·kg-1 were ig given to NIH mice(60 mice per group),twice a day for 5 d. Four control groups were set up,including the vehicle of water,0.5% sodium carboxymethyl cellulose(CMC),additives of sucrose plus dextrin (1.5 g · kg-1)and positive control quinidine(0.025 g · kg-1). Sixty minutes after the last dosing,all the mice were iv given metformin(Met)5 mg·kg-1,and at 1.0,2.5,5.0,7.5,10.0 and 20.0 min after Met iv,10 mice in each group were sacrificed to collect whole blood and kidneys respectively. The right kidney was homogenized for Met accumulation test and the left one used to extract total RNA for analysis of OCT1 and OCT2 mRNA expressions by real-time PCR. The contents of Met in sera and kidneys were quantified by HPLC. Major pharmacokinetic parameters of Met in sera were analyzed by pharmacokinetic software(DAS 2.0). RESULTS There was no significant difference between water control group,0.5%CMC group and sucrose plus dextrin group in any examined item. Compared with vehicle control group (water and 0.5%CMC group),all the related pharmacokinetic parameters in DRI 6.4 g · kg- 1,GRI 2.46 g · kg-1,indigo 0.640 mg · kg-1 and indirubin 1.536 mg · kg-1 groups were changed significantly (P<0.05,P<0.01). The elimination half time (t1/2β) was prolonged 13%-97%,volume of distribution reduced by 13%-72%,clearance(Cl)reduced by 9%-65%,and the area under the concentration-time curve (AUC0-20 min) increased by 13%-135%. AUC0-20 min obtained from renal Met accumulations was significantly increased(P<0.01)while Met uptake by kidney slices was reduced(P<0.05,P<0.01). The expressions of OCT1 and OCT2 mRNA were obviously down-regulated(P<0.05,P<0.01). CONCLUSION The mouse renal OCT1 and OCT2 are significantly inhibited by DRI,GRI,indigo and indirubin. The inhibitory effect of Radix Isatidis on OCT1 and OCT2 probably arises from indigo and indirubin contained.

Objective To explore the effect of Flavokawain B on the proliferation and apoptosis of acute T lymphoblastic leukemia(T -ALL)cells and its preliminary mechanism.Methods After the T -ALL cell lines CEM-C7(sensitive to glucocorticoids)and MOLT -4(resistant to glucocorticoids)cells were treated with different concentrations of Flavokawain B,the influence of Flavokawain B on the growth rate and doubling time of CEM-C7 and MOLT -4 cells was observed by 3 -(4,5 -dimethylthiazol -2 -yl)-5 -(3 -carboxymethoxyphenyl)-2 -(4 -sulfophenyl)-2H -tetrazolium(MTS)assay,and apoptosis was analyzed by using flow cytometry.Furthermore,Wes-tern blot assay was used to detect the expressions of Bim,Bcl -2 and cleaved Caspase -9.At last,the expressions of Bim and Bcl -2 in clinical T -ALL patient samples were also detected by using Western blot assay.Results MTS as-say showed that Flavokawain B significantly inhibited the cellular proliferation of T -ALL cell lines in a dose and time dependent manner(P <0.01 ).Flow cytometry findings revealed that Flavokawain B significantly induced the apoptosis of T -ALL cells in a dose -dependent manner(P <0.001 ).Western blot results indicated that Flavokawain B in-creased the expression of Bim and cleaved Caspase -9,and decreased the expression of Bcl -2 in T -ALL cell lines, which increased Bim and decreased Bcl -2 in clinical T -ALL patients samples,both in a dose -dependent manner. Conclusions Flavokawain B can inhibit the proliferation and induce the apoptosis of T -ALL cells by up -regulating the expression of Bim and down -regulating the expression of Bcl -2 and activating Caspase -9,whether resistant to glu-cocorticoids or not.

Objective To investigate the clinical and laboratory diagnosis in a rare case with dwarifsm and multisystem abnormalities. Methods Whole-exome sequencing was performed and data was processed using high-throughput data analysis pipeline. Genetic test result is veriifed by Sanger sequencing. Results This is a 14-year-old boy with short stature (the height is 132 cm) and autoimmune hemolytic anemia. He was treated with long-term oral prednisone. Head CT from other hospital found multiple calciifcations on both sides of the basal ganglia, two sides of the frontal lobe, and the left side of parietal lobe. Lateral spinal X-ray photography showed lfat in thoracolumbar vertebral body. Valgus was surgically corrected. He also has facial pigmentation spot and onychomycosis. Whole-exome sequencing combined with Sanger sequencing identiifed a known homozygous pathogenic mutation in ACP 5 genes (c. 643 G>A, p.G 215 R). Identiifcation of such a mutation results in the diagnosis of spondylo enchondrody splasia with immune dysregulation (SPENCDI). Conclusions Whole-exome sequencing is one of the effective methods for detection of rare disease, the SPENCDI case reported here is a good example of it.

OBJECTIVE:To study the effects of 10 kinds of nephrotoxic TCM on three main subtypes(Oat1,Oat2 and Oat3) of kidney organic anion transporter(Oats)in mice. METHODS:A total of 1 840 SPF NIH mice were randomly divided into nor-mal control group(isovolumic pure water),probenecid group(30 kg/mg),sodium carboxymethyl cellulose(CMC)group,Pulsa-tillae radix,Corydalis rhizoma,Aconiti kusnezoffii radix,Aconiti radix,Angelicae pubescentis radix,Gleditsiae spina,Polygo-num cuspidatum,Kansui radix,Platycladi cacumen,Aucklandiae radix high and low dose groups. Mice were treated twice a day for 5 d,ig. After 1 h of the last dosing,they were iv given PAH in tail(30 mg/kg). The PAH pharmacokinetic parameters of the kidney homogenate were determined and the PAH intake in kidney tissue at the time point of 1,5,10,15 and 20 min was detect-ed. The PAH in blood was analyzed by DAS 2.0 software. The grouping and dosing were the same as before,after 1 h of the last dosing,kidney slices were made and put into PAH-buffer. The PAH intake of kidney slices was determined. RESULTS:Compared with normal control group,the t1/2β in C. rhizoma high dose group,A. kusnezoffii high and low dose groups,A. pubescentis high dose group,P. cuspidatum high and low dose groups and P. cacumen group were increased;Vd were all decreased in 10 kinds of TCM high and low dose groups;except for A. pubescentis low dose group,G. spian low dose group and K. radix low dose group, the CL was decreased and AUC0-20 min was increased in all other groups,with significant difference (P<0.01 or P<0.05). Com-pared with normal control group,the content of PAH in kidney tissue in P. radix high dose group,C. rhizoma high dose group,A. kusnezoffii high dose group,A. radix high and low dose groups,A. pubescentis high and low dose groups,G. spina high and low dose groups,P. cuspidatum high and low dose groups,K. radix high and low dose groups,P. cacumen high and low dose groups and A. radix high and low dose groups were increased,with significant difference (P<0.01 or P<0.05). Compared with normal control group,the intake of PAH in kidney slices in C. rhizoma high dose group,A. kusnezoffii high and low dose groups,G. spi-na high and low dose groups,K. radix high dose group,P. ca-cumen high and low dose groups and A. radix high dose group were decreased,with significant difference (P<0.01 or P<0.05). CONCLUSIONS:The 10 kinds of nephrotoxic TCM probably induced kidney injury through inhibiting the Oat1,Oat2 and Oat3 of Oats.

Objective To investigate the clinical manifestations in patients with 22q11.2 deletion syndrome (22q11.2DS) to improve the understanding of the disease.Methods Twenty patients with 22q11.2 DS were enrolled from Children's Hospital of Fudan University between August 2008 and April 2014.Cytogenetic and molecular genetic methods included fluorescence in situ hybridization (10 cases),and multiplex ligation-dependent probe amplification (10 cases).Age at the time of the diagnosis,sex and clinical manifestations were analyzed.Results The subject group consisted of 20 patients.Among them,13 cases (65％) were male and 7 cases (35％) were female.The median diagnostic age was 3.9 months.The presence of congenital heart diseases was identified in 17 patients (85％) and surgical correction was performed in 9 cases of them.The most frequent of complex congenital heart diseases were tetralogy of Fallot (20％) and pulmonary atresia (20％).Ten patients had varying degrees of T-cell immune function defects.Decrease in total lymphocytes and only CD8 counts were present in 45％ and 5％,respectively.Hypogammaglobulinemia was not detected in any patient.Six eases with T-cell immune function defects were treated with thymosin,4 of which were followed up for months,and the prognosis was good.Hypocalcemia was detected in 6 patients (30％),3 of whom presented with hypocalcemic seizures and hypoparathyroidism.Craniofacial dysmorphisms were detected in 3 patients(15％),2 of them only presented with micrognathia.Otorhinolaryngologic abnormalities were found in 4 cases (20％),3 of whom had laryngeal abnormalities,one of whom had cleft palate.Psychomotor developmental delay was found in 9 cases.Conclusions Congenital heart defects,hypocalcemia and/or impaired immune function are diagnostic features for 22q1 1.2 deletion syndrome,and they should be considered for cytogenetic analysis.

Objective To discuss the safety and effectiveness of transurethral resection of the prostate (TURP) on large-size (≥ 80 ml) benign prostatic hyperplasia (BPH).Methods Retrospective analysis of 958 BPH patients in Southwest Hospital during January 2010 to January 2013 was conducted.The patients were grouped into ≥80 ml prostate group (Group A) and ＜80 ml prostate group (Group B) according to the volume of prostate.Comparison was made between the 2 groups on the safety and effectiveness of TURP.Results There were 276 patients in Group A and 682 in Group B.No significant differences were shown in average age and preoperative American society of anesthesiology score of Group A and B.Compared with Group B,decrement in hemoglobin level and blood Na+ concentration of Group A was more significant (P＜0.01).There were more prostate tissues excised and duration of the operations was longer (P＜0.01).No significant difference was observed in peri-operative complications graded by the modified Clavien classification system,catheter durations and durations of hospital stay between the 2 groups (P＞0.05).At 6 months after the surgery,average maximum urinary flow rate (Qmax) increased from 5.9±2.9 ml/s to 17.1±8.2 ml/s for Group A and 6.1±3.0 ml/s to 17.5±6.4 ml/s for Group B,both groups showed significant increase in Qmax after surgery(P＜0.01).Six months after surgery,international prostate symptom score (IPSS) of Group A decreased from 23.7±6.1 to 5.9±4.9 while IPSS of Group B decreased from 23.1±5.5 to 6.2±4.4,both groups showed a significant decrease (P＜0.01).No significant difference was shown in IPSS,quality of life,Qmax,postvoid residual urine volume and occurrence rate of long-term complications after 6 months between the 2 groups (P＞0.05).Conclusion TURP is as safe and effective in treating large-size BPH as treating medium and small-size BPH.

Objective To explore the relationship between vegetation and the distribution of Oncomelania snails inside and outside the embankments of Poyang Lake region. Methods The plantation and Oncomelania snails were surveyed at 4 villages and their related marshlands in Yugan, Nanchang and Jinxian counties by the stratified systematic sampling method. The investigation was targeted to the vegetation species,height,coverage and frequency of plantation and synchronously to the distribution of snails and infection of snails in marshland of high, middle and low altitudes,adjacent beaches as well in cultivated and waste land inside embankment. The relationship between vegetation dominant association and the distribution of snails in those area was analyzed. Results The vegetation inside and outside the embankment were remarkably diverse. Inside the embankment, the species of vegetation varied greatly and distributed randomly,and no snail was found. While outside the embankment,the distribution of vegetation characterized an unregulated annulus or patch. Plant's association types were distinct on marshlands. The snails mainly distributed in areas at 15-17 m altitude,closely related to the species of vegetation. The coverage of dominant plants,Carex cinerascen and Miscanthus sacchariflorus showed a quadratic curve correlation with the density of snails. Conclusions In the Poyang Lake region,plants and snails are impacted by common environmental factors,which then lead to their close association in distribution. It might be attributed to integrated impacts of changes in ecological factors that Oncomelania snails disappear gradually in areas inside embankment after construction of embankment.