Objective To analyze the genotype-phenotype correlations of Angelman syndrome ( AS ) , and to discuss the advantage of applying array-based single nucleotide polymorphisms comparative genomic hybridization ( SNP aCGH) in diagnosis of AS. Methods Examination of electroencephalogram( EEG) and intelligence quotient( IQ) evaluation were done for 11 cases diagnosed as AS clinically. Gesell scares were chosen as the evaluation criterion of IQ. The screening techniques was methylation polymerase chain reaction( MS-PCR) ,then SNP aCGH was used to make genetic diagnosis. Results (1)Eleven cases of AS were confirmed:1 case had UPD(uniparental disomy),10 cases were type of deletion, from which 6 cases were deletion (Ⅱ) , 4 cases were deletion (Ⅰ) . ( 2 ) The copy number variations were detected in the region of 15q11-q13,which contained genes like MKRN3,MAGEL2,NDN,SNRPN, SNURF,GABRB3,GABRA5,GABRG3,UBE3A,OCA2,ATP10A. To search online Mendelian inheritance in man,genes above were correlated with AS manifestation. (3)All cases of deletion were 3-5 standard deviation(SD) in weight and height to normal children at the same age and with the same sex,while UPD was below 1. 5 SD. Gesell scares showed that the deletion(Ⅰ) was the most serious in mental retardation,deletion(Ⅱ) was moderate,and the UPD was mild. Eight cases were hypopigmentation,and one was the UPD. EEG revealed that 1 case of deletion(Ⅰ) and the UPD were spike occasionally,another one deletion(Ⅰ) was limit EEG. The rest cases displayed slow and spike waves paroxysmal-ly,with amplitude of medium or high,2. 5-3. 0 Hz. Conclusions Not only can SNP aCGH make a diagnosis of AS but discriminate the types of genetic pathology. Since different type contributes to a diverse of clinical features and the rate of recurrence is also different,it is significant for family genetic consultation. Moreover,the technology is advantageous for the study on the pathogenesis and gene function.

Objective By using array-based single nucleotide polymorphisms comparative genomic hybridization (SNP-aCGH) to detect and fine mapping copy number variations (CNVs) in children with unexplained mental retardation/brain development delay(MR/BD),then the CNVs were analyzed to determine diagnosis and offer genetic counseling,finally to discuss the application of SNP-aCGH in genetic diagnosis of MR/BD with unknown causes.Methods Ninety-two children with unexplained MR/BD were recruited.SNP-aCGH was used to get CNVs from the whole genome-wide,and the correlation of CNVs and phenotype was analyzed to definit disease genes or pathogenic fragment.Statistics was performed to analyze the common phenotype between positive cases (case with CNVs) and negative cases.Results (1) The CNVs were detected in 10 cases with a detection rate of 10.86％,from which 8 cases showed subtelomeric aberration,5 cases without subtelomeric aberration,and the rate was 8.70％,5.40％,respectively.The CNVs related to MR/BD involved 10 different subtelomeric regions (9p,21q,3p,2p,15q,4p,12p,22q,16p,17p),and 7 different regions without subtelomeric (1p,4q,2p,14q,15q,12q,22q).The deletions involved 11 zones (size:1.05-8.80 Mb),and duplications referred to 8 zones (size:1.33-31.25 Mb).(2) One case was diagnosed as 9p duplication syndrome,for candidate genes:DOCK8,VLDLR.A case was detected with a gene fracture (CRBN).One case was diagnosed as Coffin-Sirrs syndrome combined with a deletion of 15q26.3-qter,for candidate genes:SOX11 and LINS1,respectively.One case referred to 12p13.3 deletion syndrome,for candidate genes:ELKS,ERC1.One case referred to 22q13.2-qter deletion,for candidate genes:SHANK3.Two cases were diagnosed as ATR-16 syndrome with 17p13.3 deletion syndrome,their candidate genes:HBA1,HBA2,SOX8 for the former,YWHAE,LIS1 for the latter.(3)There were statistically significant differences in comparison of positive cases to the negative ones for growth delay,internal organs deformity,low birth weight infant(LBW) and premature infant (all P ＜0.05).Conclusions (1) Besides MR/BD in different degrees in all the positive cases,they also showed growth delay,a portion of them with internal organs deformity,low birth weight infant and premature infant.(2) Subtelomeric aberrations are related to MR/BD,while the submicroscopic rearrangement in regions without subtelomeric is suspiciously pathogenic,and need to be further studied.(3) SNP-aCGH can fine mapping the region of CNVs by high resolution from the whole genome-wide,which does contribute to limit the zones for finding pathogenic region and candidate genes,as well as to offer a technology platform for investigating about the correlation of phenotype and genes or CNVs.

Objective To investigate the potential role of MCP-1/CCL2 in experimental acute necrotizing pancreatitis (ANP) and complications. Methods 60 SD male rats were randomly divided into 3 groups: sham operation group ( n = 20 ), ANP group ( n = 20 ) and MCP-1 group ( n = 20 ). ANP model was induced by retrograde infusion of 3.5% sodium taurocholate, MCP-1 group received subcutaneous injection of MCP-1 antibody 0 h and 6 h after ANP induction. The serum levels of amylase, MCP-1, D-lactic acid,histological changes and the expression of MCP-1 mRNA of lung, small intestine and pancreas, the expression of MCP-1 protein in pancreas, MPO levels of small intestine MPO were determined. Results The serum levels of amylase, MCP-1, D-lactic acid in MCP-1 group at 12 h were (4666 ±412)U/L, (39.53 ±8.25)pg/ml and (6.3 ±2.2)mg/L, which were significantly lower than those in ANP group [ (9611 ±363)U/L, (63.42 ±9.32) pg/ml, (9.3 ± 2. 1 ) mg/L, P< 0.05 ) ]; the expression of MCP-1 mRNA in pancreas, small intestine and lung were 0.431 ± 0.009, 0. 211 ± 0.018 and 0.442 ± 0.017, which were significantly lower than those in ANP group [ (0.624 ±0. 010, 0. 523 ±0. 019 and 0. 569 ±0. 024, P <0.05) ]; the expression of MCP-1 protein in pancreas was 2.0 ± 0. 1, which was significantly lower than that in ANP group (4. 0 ± 0. 2, P <0.05). Lung and small intestine MPO were (11.1 ±3.0)U/g and ( 19.2 ±2.0)U/g, which were significantly lower than those in ANP group[(39.2±3.1)U/g and(13.1±2.1)U/g, P<0.05]. Conclusions Early blockade of MCP-1 not only attenuates the severity of ANP, but also decreases the degree of acute lung injury and intestine barrier dysfunction.

Background and Purpose:The recurrent rate of breast cancer after mastectomy was 5%~20%,high risk factors were included it could achieve 34%~40%,Chest wall recurrence was the most common.This paper explores the reason for chest wall recurrence of breast cancer after mastectomy,hoping to find an efficient way to prevent and reduce chest wall recurrence after mastectomy.Methods:For 39 patients with local recurrence on the chest wall after mastectomy clinical data was reviewed retrospectively.Results:This group of patients was 5.1% of all breast cancer patients in the same period.Most of recurrences(59.0%)occured within two years affer operation.The recurrent rate of T_1～T_4 was 1.6%、1.9%、9.7% and 37.2% respectively.Rate of chest wall recurrence in patients with negative axillary nodes and positive axillary nodes was 1.3%、7.6%,but if the amount of positive axillary nodes≥4,it was 13.4%.Conclusions:In the patients who had more positive axillary nodes,larger primary tumor and no proper adjuvant therapy,recurrence on the chest wall was seen more often.Adjuvant chemotherapy and postoperative radiotherapy are efficient ways to prevent recurrence on the chest wall.

ObjectiveTo investigate the clinical effects of posterior atlantoaxial fusion fixation in treatment of old atlantoaxial injury secondary to atlantoaxial dislocation.MethodsA retrospective analysis was carried out on 16 patients ( 14 males and 2 females) with old atlantoaxial injuries secondary to atlantoaxial dislocations managed with posterior atlantoaxial fusion fixation from March 2008 to March 2012.The time from injury to operation lasted for 3-36 months ( average 10.5 months).Posterior atlantoaxial transpedicular fixation was performed in 13 patients including 10 patients with old odontoid fractures and three with old traumatic transverse ligament disruptions of the atlas combined with atlantoaxial dislocations.Also,posterior atlantal arch transpediclar fixation combined with axial pedicle screw fixation was performed in three patients who had old odontoid fractures combined with atlantoaxial dislocations.All patients had simultaneous autogenous bone grafting between atlas and axis during reduction and fixation.The preoperative and postoperative Japanese Orthopaedic Association (JOA) scores were compared.Follow-up X-ray films and CT was performed to evaluate the atlantoaxial reduction and fusion.ResultsAll the patients were followed up for 9-18 months ( mean 13 months).None of the patients had spinal cord or vertebral artery injuries.Follow-up CT showed that two patients had partial penetration of one side axial pedicle screws into transverse foramen without nerve and blood vessel injuries.Clinical symptoms obtained different degree of improvement.The postoperative JOA scores ranged from 13 to 16 points ( mean 14.8 points) and the improvement rate of JOA was 71％-92％ ( mean 82％ ).The X-ray films and CT showed sound bone fusion,with good location of screws but with no signs of atlantoaxial instability or loss of reduction,or loosening or breakage of the screws.ConclusionPosterior atlantoaxial fusion fixation can effectively reconstruct atlantoaxial stability,improves neurologic function of spinal cord and has reliable curative effects.

Objective:To investigate the pharmaceutical care methods for the patients with drug-induced liver injury. Methods:The participation process of clinical pharmacists in 3 cases of typical drug-induced liver injury was with detailed introduction and analy-sis in the paper. Results:The case 1 indicated that new drugs probably with drug-induced liver injury should be warned in the process of clinical medication. The case 2 suggested that TDM, as a useful assessment weapon, could be fully used to find the source medi-cines when drug-induced liver injury occurred. The case 3 showed the specific cases, especially the patients with abnormal liver func-tion, should be focused on, the medicines with high liver toxicity should be avoided and the medicines with mild liver toxicity could be chosen. Conclusion:Clinical pharmacists should participate in the clinical practice of drug-induced liver injury with multi-channel and multi-link, and pay attention to the drugs with high risk of liver injury. Meanwhile, clinical pharmacists should perform TDM monito-ring to provide positive evidence for the diagnosis of drug-induced liver injury, and focus on the liver and kidney functions to provide better pharmaceutical care for the patients.

Objective To investigate the correlation between QRS amplitudes and left ventricular wall thickness in autopsy specimens of elderly men.Methods The data of autopsy cases in our hospital since 1990 were retrospectively analyzed.The cases with QRS duration≥0.12 s and the pacing electrocardiogram were excluded.QRS amplitudes of standard 12-lead electrocardiography in 3 months before death were measured and the correlation between QRS amplitudes and left ventricular wall thickness was analyzed in the elderly men.Results Correlations were found between the amplitudes of the R waves in leads V5 ,V6, Ⅰ ,aVL[(1.1±0.7) mV, (0.95±0.6) mV, (0.44±0.3)mV and(0.35±0.3)mV] and left ventricular wall thickness[(13.6±5.4)mm;r=0.22,0.14,0.22,0.23,all P<0.05], and between the combination of QRS amplitudes SV1 +RV5 or RV6(1.9±1.2) mV] and left ventrieular wall thickness [(13.8± 5.4) mm; r = 0.23, P < 0.05].The correlationbetween the combination of QRS amplitudes (SV1 + RV5 or RV6 ) and left ventricular wall thickness was the strongest in 60-79 years old cases (r=0.48, P<0.01) ,and was decreased in 80-89 years old cases (r= 0.23, P<0.05).There was no correlation between the combination of QRS amplitudes (SV1+RV5or RV6) and left ventricular wall thickness in 90-101 years old cases (r= 0.03, P> 0.05).Conclusions Electrocardiogram is a reliable method for diagnosis of left ventricular hypertrophy in elderly men aged < 90 years.

Objective To compare the effect of treating hyperglycemia on insulin pump therapy in newly diagnosed type 2 diabetes mellitus(T2DM) and the patients with failure to oral antidiabetic therapy. Methods Selecting 32 patients with newly diagnosed T2DM(NDM group)and 64 T2DM patients with failure to oral antidiabetic therapy(ODM group),which were treated by insulin pump,having no significant difference of the level of blood glucose,body mass index(BMI),age,proportion of sex between NDM group and ODM group. Results (1)The mean time and the maximal dosage of insulin for blood glucose to be targeted in NDM group were all lower than those in ODM group(P all

To explore rapid 3D reconstruction based on wiggle stereoscopy for cerebrovascular CT images to e-liminate the complicacy and inconvenience of the traditional methods. Focal parts of cerebrovascular CT images were segmented based on intelligent neural network fusion model. A 3D human body model base was established, and the focal parts were replaced with the corresponding ones in the base to realize cerebrovascular CT images 3D reconstruction. The 3D human body model base enhanced the efficiency of the cerebrovascular CT images 3D reconstruction greatly. The rapid reconstruction based on wiggle stereoscopy facilitates the display of cerebrovascular CT im-ages.

Objective To investigate the application value of ELISA for detecting the serum anti desmoglein (Dsg) 1 and Dsg 3 in the diagnosis and treatment of pemphigus .Methods Forty‐seven patients with pemphigus in our hospital from January to De‐cember 2014 were selected as the observation group and contemporaneous 52 patients with excluding pemphigus were selected as the control group .The Dsg antibodies were detected by using indirect immunofluorescence method and Dsg 1 and Dsg3 were deter‐mined by ELISA ;their correlation with pemphigus characteristics was analyzed .Results The sensitivity and specificity of ELISA for detecting anti‐Dsg antibodies were 95 .74% and 92 .31% respectively ,while which of IIF were 93 .62% and 86 .54% respective‐ly ,showing no statistically significant difference between the two test methods (P>0 .05) .In 30 cases of pemphigus vulgaris ,16 ca‐ses (16/30) were positive Dsg1 and Dsg 3 ,8 cases of pemphigus erythematosus and 5 cases pemphigus foliaceus were positive Dsg1 only ,and 2 cases of pemphigus vegetans were both positive Dsgl and Dsg3 .The Dsgl and Dsg3 titers of pemphigus vulgaris and pemphigus vegetans were 130 .85 ± 86 and 112 .30 ± 85 .05 ,respectively ,and the disease activity score was (5 .10 ± 1 .86) points ,the correlation coefficient(r)=0 .476(P=0 .008) ,r=0 .816(P=0 .001) ,respectively .The Dsgl titer of pemphigus erythematosus and pemphigus foliaceus were 142 .59 ± 78 .52 ,and the disease activity score was (2 .77 ± 0 .92) points(r=0 .800 ,P=0 .001) .Conclu‐sion ELISA for detecting Dsg1 and Dsg3 has high sensitivity and specificity ,and is conducive to the diagnosis of pemphigus and e‐valuation of disease severity .