Objective To study the application of the array comparative genomic hybridization (Array-CGH) for the detection of chromosomal disorders in newborns.Method The Array-CGH technique was used to analyze the whole genome of the patients who were suspected of chromosomal disease in neonatal ward of our hospital from January to December in 2014,and further verification in genomic unbalanced ectopia was carried out by FISH (fluorescence in situ hybridization,FISH).Result Among 514 patients,104 were found carrying chromosomal abnormalities with a detection rate of 20.2％.The most common chromosomal disease is the Down syndrome syndrome (24 cases),followed by the chubby Willy and Angel syndrome(17 cases),while the Wolf-Hirschhorn syndrome in 5 cases,Williams syndrome in 5 cases and the Criduchat syndrone in 5 cases.The results of FISH were consistent with Array-CGH.Conclusion The technique of Array-CGH can be used to scan the whole genome of children with unknown disease.As a high-throughput and rapid research method,this technique has important clinical significance in the screening of chromosomal diseases.

Objecitve To investigate the changes of chronotropic response before and after percutaneous coronary intervention ( PCI)in patients with coronary disease .Methods A total of 339 patients with coronary disease was included in this study .All sub-jects underwent treadmill exercise test and coronary angiogram , and some patients underwent PCI if necessary .The parameters of chro-notropic response were recorded and analyzed , including ratio of the highest to predicted heart rates ( rHR) ,chronotropic response in-dex ( CRI) , and heart rate reserve ( HRR) .After coronary angiogram , the score of gensin was recorded and analyzed .Results There was significant difference in the parameter of CRI between unstable angina pectoris and silent myocardial ischemia groups ( P <0.05 ) , CRI were 0.80 ±0.11 and 0.89 ±0.07 , respectively .After coronary angiogram and PCI , there were significant differences in the parameters of rHR, CRI, and HRR between pre-therapy and post-treatment ( t =2.440, 1.977, 2.529, all P <0.05).A nega-tive correlation was found between the parameters of rHR , CRI, and HRR and the score of Gensin ( r =-0.686 , -0.673 , and-0.672, all P <0.05).The significant difference in rHR, CRI, and HRR existed between the groups of <20 and >40 ( t =2.567, 2.223, 2.062, all P <0.05).Conclusions Parameters (rHR, CRI, and HRR) had important clinical values in evaluating the changes of chronotropic response before and after PCI in patients with coronary disease with a negative correlation with the score of Gensin.

Objective To study the effects of two different methods of high-pressure injections on imaging quality of synchronous left axillary artery and vein by using volume CT.Methods Forty seven patients who underwent left axillary vein and artery CTA examination study were analyzed retrospectively according to the contrast agent injection scheme and was divided into two groups A and B.Group A of 25 patients used protocol A,adopted clinical routine delay scanning method,via right elbow vein inject contrast medium.Group B of 22 patients used protocol B,adopted artery delayed imaging combined with vein direct imaging method,via right elbow vein,left radial vein inject contrast agent,respectively.Both values of CT and contrast to noise ratio (CNR) of two groups were compared,objective image quality was compared by two blinded readers.Mann Whiteny U test was used.Results The median of CT values for left axillary artery in group A was 151.9 HU.The median of CNR values for left axillary artery in group A was 7.4.The median of CT values for left axillary vein in group A was 116.0 HU.The median of CNR values for left axillary vein in group A was 3.83.The median of CT values for left axillary artery in group B was 348.8 HU.The median of CNR values for left axillary artery in group B was 25.3.The median of CT values for left axillary vein in group B was 497.0 HU.The median of CNR values for left axillary vein in group B was 35.4.Both values of CT and CNR in two groups showed significant difference (Z=-5.735,-5.799,-5.863 and-5.863,P＜0.01).All of the median scores in group B were greater than in group A(P＜0.01).Conclusion The enhancement effect of protocol B in the left axillary arteriovenous synchronous imaging is significantly higher than those of protocol A,and demonstrates clear image quality and clearer anatomic relationship.

Objective To observe the clinical features and prognosis of endogenous bacterial endophthalmitis (EBE).Methods Ten eyes of 10 patients diagnosed with unilateral EBE were retrospectively reviewed,including 7 males and 3 females.The mean age was 57.6± 10.8 years old.Eight patients were with diabetes and 7 of them were diagnosed over 5 years.There were 3 patients with hepatocirrhosis,1 patient with hypertension,and 1 patient with coronary disease.Nine cases had infectious diseases,including liver abscess (7 cases),pulmonary infection (3 cases),erysipelas (1 case) and perianal abscess (1 case).Seven cases had fever history.Culture and drug sensitive tests for aerobic bacteria,anaerobic bacteria and fungal were performed for 9 eyes using vitreous samples from the procedures of vitrectomy and/or intravitreal injection.All patients were treated with broad-spectrum antibiotics and adjusted for drug use according to microbiological culture and drug sensitivity test results.After the diagnosis was established,vitrectomy combined with lens removal was performed in 5 hours (3 eyes) and 24 hours (5 eyes);Vitreous tamponade of C3F8 (1 eye) and silicone oil (7 eyes) was used;At the end of the operation,0.1 ml vancomycin (1 mg) and 0.1 ml ceftazidime (1 mg) were injected into the vitreous cavity.One eye received intravitreal injection of 0.1 ml vancomycin (1 mg) and 0.1 ml ceftazidime (mg),one eye received evisceration.During the follow up period from 6 to 24 months,visual function,slit lamp and fundus examinations were performed at each office visit.Results All patients complained of blurred vision and 5 patients had ocular pain.The visual acuity was no light perception (3 eyes),light perception (5 eyes);hand motion (1 eye) and 0.1 (1 eye).Corneal edema was found in all 10 eyes;hypopyon in 8 eyes;diffuse vitreous opacity in 10 eyes,including 3 eyes with retinal detachment.For 8 eyes treated by vitrectomy and intravitreal injection,1 eye was eviscerated due to uncontrolled inflammation.The eye treated with intravitreal injection was enucleated for its uncontrolled inflammation.For 9 eyes received vitreous culture and drug testing,8 eyes (88.9％) had positive results,including 5 eyes with Klebsiellar pneumonia,and 1 eye with Staphylococcus aureus,or Streptococcus agalactiae or Enterococcus faecalis respectively.At last office visit,2 eyes were with no light perception;4 eyes were with hand motion;and 1 eye with visual acuity of 0.1.Conclusions Most of the patients with endogenous bacterial endophthalmitis have systemic predisposing factors.Klebsiella pneumoniae is the leading cause of ocular EBE.Vitrectomy combined with intravitreal injection of antibiotics showed efficacy in treating EBE.

Objective To investigate the clinical value in changes of serum glutamic acid decarboxylase antibody (GAD-Ab) ,islet cell antibodies(ICA) ,insulin autoantibodies (IAA) and high-sensitivity C-reactive protein (hs-CRP) and renal function in elderly type 2 diabetic patients .Methods 122 cases of endocrine inpatient in our hospital had been diagnosed with type 2 diabetes were chosen from January 2012 to December 2012 .They were divided into islet autoimmunity antibody positive group (n=21) and islet autoimmunity antibody negative group (n=101) according to the antibody test results ,Fasting C-peptide(FCP) ,2-hour postprandial C-peptide(2 h CP) ,glycosylated hemoglobin(HbA1c) ,high-sensitivity-CRP(hs-CRP) and renal function[urea (UREA) ,creatinine (Cr) ,microalbuminuria(urinary mALB) ,urinary β2-microglobulin (urinary β2-MG)]were detected .Test results were statistically analyzed and compared .Results At least one Islet autoimmune antibodies were found in 21 cases of 122 elderly patients with type 2 diabetes .The positive rate was 17 .21% .GAD-Ab was detected positive in 14 cases(11 .47% ) ,ICA was detected positive in 10 ca-ses(8 .19% ) ,IAA was detected positive in 1 case(0 .82% ) ,Two antibodies were detected positive together in 4 patients(3 .27% ) , Three antibodies were not detected positive together .The levels of hs-CRP ,UREA and Cr in Islet autoantibodies positive group were higher then in islet autoimmunity antibody negative group ,the difference was statistically significant (P<0 .05) .The levels of FCP ,2 h CP ,HbA1c ,urinary mALB and urinary β2-MG in both group ,the difference was not statistically significant (P>0 .05) . Conclusion Chronic inflammation and the appearance of islet autoantibodies are closely related to the damage of islet cell function . It has a higher value in monitoring complications and efficacy through understanding islet autoantibodies ,inflammation and changes in renal function in elderly type 2 diabetes .

Objective To investigate the lesionsin theleft thalamus and to explore their correlation with executive functionin patients with subcortical ischemic vascular disease(SIVD)by using 1H magnetic resonance spectroscopy (1H-MRS) and diffusion tensor imaging (DTI). Methods Fourteen patients with vascular dementia (VaD), 14 patients with vas-cular cognitive impairment without dementia(VCIND)and 14 normal controls (NC) were recruited. The quantitative analy-sis of N-acetylaspartate (NAA), Choline (Cho), myoinositol (MI) and Creatine (Cr) resonance signals in region of interests (ROI) in the left thalamus were measured. Fractional anisotropy (FA) and mean diffusivity (MD) values in the same region were examined by using DTI. The relationship were analyzedamong the MRS, DTI ratios and cognitive impairment reflect-ed in MMSE and trail making test(TMT). Results The NAA/Cr ratio showed a gradual decrease in the left thalamus of VaD andVCIND patients compared with controls(F=3.656, P=0.038). There was no significant difference in NAA/Cr ra- tiobetween VaD and VCIND patients.Compared with controls, patients with VaD and VCIND demonstrated increased MD value in the left thalamus(F=3.882, P=0.030).There was no significant difference in MD value between VaD and VCIND patients (P>0.05). There were no correlations between NAA/Cr, MI/Cr, Cho/Cr value and DTI parameters in the ROI (P>0.05). TMTb time was positively associated with Cho/Cr(r=0.520,P=0.001 ) and with MD value in the left thalamus (r=0.305, P=0.044). Conclusions Combination of 1H-MRS with DTI can provide the valuable informationon the potential lesions in the thalamus in patients with SIVD. The Cho/Cr and MD values in the leftthalamus may be correlated with ex-ecutive function.

Objective To analyze correlation between ultrasound features and clinical lab indexes of refractory secondary hyperparathyroidism (SHPT).Methods Two-dimensional ultrasound and CEUS were performed in 30 patients with refractory SHPT before operation.The sum volume of hyperplastic parathyroid glands and sum volume of enhanced area of parathyroid glands in each patient were measured and calculated.Clinical lab indexes,including serum intact parathyroid hormone (iPTH),serum calcium,serum phosphorus,serum alkaline phosphatase (ALP) were recorded,and corrected serum calcium and corrected serum calcium-phosphorus product were calculated 2 days before operation.The correlation between sum volume of parathyroid glands and lab indexes was analyzed.Results There were positive correlations (r=0.48,0.50,both P=0.01) between sum volume of parathyroid glands,sum volume of enhanced area of parathyroid glands and iPTH level.No correlation was found between the volume of hyperplastic parathyroid glands and serum calcium,serum phosphorus,ALP,corrected serum calcium,nor calcium-phosphorus product (all P＞0.05).Conclusion The sum volume of parathyroid can reflect active state of parathyroid glands,which is helpful to diagnosis and monitoring refractory SHPT.

OBJECTIVETo determine the disease-causing mutation in a newborn with hereditary spherocytosis.

METHODSGenomic DNA was extracted from peripheral blood samples of the patient and her parents. Next-generation sequencing was used to analyze the related genes. Suspected pathogenic mutation was verified with polymerase chain reaction and Sanger sequencing.

RESULTSAn insertional mutation g.834_833insC was identified in the coding region of ankyrin-1 (ANK1) gene, which has caused a frame shift, resulting premature termination of protein translation.

CONCLUSIONThe hereditary spherocytosis in the neonate was probably due to the g.834_833insC mutation of the ANK1 gene.

Amino Acid Sequence ; Ankyrins ; genetics ; Base Sequence ; Female ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; diagnosis ; genetics ; Molecular Sequence Data ; Mutation ; Spherocytosis, Hereditary ; diagnosis ; genetics

Aim To investigate the potential suppressing effect of calmodulin antagonist EBB on metastasis-associated properties of human metastatic ovarian clear cell adenocarcinoma cell ES-2.Methods MTT assay was used to assess the growth inhibition of EBB on ES-2 cells.The invasive capacity and motility potential were determined by Transwell chamber assay and Wound assay.[Ca2+]i was observed under the laser scanning confocal microscopy.Results EBB inhibited the proliferation of ES-2 cells in vitro.The IC50 on ES-2 cells was(13.67?1.56)?mol?L-1.The invasive ability and motility potential of ES-2 cells were decreased after exposure to 3,7 and 14 ?mol?L-1 EBB respectively(P

Objective To explore the effect of exercise preconditioning on inflammatory response in ischemic stroke brain tissue which mediated by miR-146a in extracellular vesicles in rats with middle cerebral artery oc-clusion(MCAO),and its mechanism.Methods Sixty 6-week-old male Sprague-Dawley rats were randomly divid-ed into a non-exercise group and an exercise group.The non-exercise group was further divided into a sham-operation control group(C,n=15)and an MCAO model group(M,n=15),while the exercise group was further di-vided into an exercise only group(E,n=15)and an exercise plus MCAO model group(EM,n=15).Rats in the E and EM groups underwent 8 weeks of treadmill exercise,6 days per week,30 minutes per day.Then rats in the M and EM groups received MCAO to induce ischemic stroke,while the C and E groups underwent a sham surgery.Twenty-four hours after the surgery,neurobehavioral tests were performed.Plasma was collected to ex-tract extracellular vesicles,and brain tissue was collected to measure the volume of cerebral infarction by using the triphenyl tetrazolium chloride(TTC)staining.Moreover,the Nissl staining was conducted to observe neuronal and Nissl body.Mean while,the content of miR-146a in plasma extracellular vesicles and brain tissue was mea-sured by using the quantitative polymerase chain reaction(qPCR),and the expression of TNF receptor associat-ed factor 6(TRAF6),nuclear factor kappa-B(NF-κB)and tumor necrosis factor-α(TNF-α)in brain tissues were determined using Western blotting.The targeting relationship between miR-146a and TRAF6 was detected by using the dual luciferase reporter gene assay.Results(1)The neurological behavioral scores of the EM and M groups were higher than those of the C group(P<0.01 and P<0.01),with that of the EM group lower than the M group(P<0.01).(2)TTC staining showed that the infarct volume of the EM and M groups was larger than that of the other two groups(P<0.01 and P<0.01),with that of the EM group smaller than the M group(P<0.01).(3)Nissl staining results showed that the neuronal arrangement was loose,the number of neurons re-duced,and the Nissl bodies were lightly stained and decreased in the M group compared with the C and E groups.Moreover,compared with the M group,the number of neurons and Nissl bodies increased in the EM group.(4)The qPCR analysis showed that the expression of miR-146a in the plasma-derived exosomes and brain tissues of the EM and M groups decreased compared with the C group(P<0.05 and P<0.01),with that of the EM group higher than the M group(P<0.05).(5)According to Western blotting,compared with the C group,the expression levels of TRAF6,NF-κB,and TNF-α proteins increased significantly(P<0.05 and P<0.01),with that of group EM signfiicantly lower than group M(P<0.05 and P<0.05).(6)Dual-luciferase report-er gene assay showed that miR-146a had a specific binding site with TRAF6.Conclusion Eight weeks of exer-cise preconditioning reduces the infarct area and the extent of brain damage,which may be mediated by miR-146a via exosomes,increasing the expression of miR-146a in brain tissue,targeting TRAF6,negatively regulat-ing TRAF6/NF-κB,and reducing the expression of TNF-α,thus alleviating the inflammatory response in brain tissue and exerting a protective effect on ischemic brain injury.