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 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 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 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.

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.

ObjectiveTo investigate the effects of education based on family empowerment theory on care ability and care preparedness for the main caregivers of patients on first time peritoneal dialysis. MethodsBy convenience sampling, 150 main caregivers of the patients undergoing peritoneal dialysis for the first time in the peritoneal dialysis center of Shaoxing Second Hospital from January of 2016 to December of 2017 were selected in the study; 75 caregivers of the patients who underwent the dialysis from January to December of 2016 were put into the control group and received routine education approach; the other 75 caregivers of the patients who underwent the dialysis from January to December of 2017 were put into the experimental group, on the basis of routine education, education based on the family empowerment theory was adopted which included five stages: clarify problems, express emotions, formulate care plan, implement care plan, and evaluate effects. Family Caregiver Task Inventory(FCTI) and Care Preparedness Scale(CPS) were used to evaluate the intervention effects of the main caregivers. ResultsBefore intervention, there was no statistically significant difference in the caregivers' general information, care ability, and caregiver preparedness between the two groups(P＞0.05). After intervention, there were statistically significant differences between the two groups in terms of the total scores and each dimensional score of care ability, and the total scores of caregiver preparedness (P＜ 0.05). ConclusionsThe education approach based on family empowerment theory can effectively improve the care ability and care preparedness of the main caregivers of patients on peritoneal dialysis for the first time, and plays a positive role in promoting recovery of the peritoneal dialysis patients.

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