AIM:To identify intragenic mutation loci of the BEST-1 gene with congenital vitelliform macular dystrophy by molecular genetic analysis at one family in Northeast China.
METHODS: Genomic DNA was extracted from peripheral leukocyte of 2 patients and 5 healthy members in the family with vitelliform macular dystrophy and 100 normal controls. Ten exon sequences of BEST - 1 amplified by polymerase chain reaction ( PCR ) were made direct DNA sequencing to define the gene mutation loci and compared with gene screening performed on 100 normal controls.
RESULTS: After the direct DNA sequencing, no mutation loci was found in all the patients of this family with vitelliform macular dystrophy.
CONCLUSION:There is no mutation in the exons of BEST-1 gene causing disease genes in this family.

Objective To analyze the clinical effects of continuous epidural anesthesia and psychological intervention in painless labor. Methods From June 2016 to December 2016110 cases of maternal treatment in Ningbo city town of dragon longsai hospital as the research object, randomly divided into control group and observation group, control group of women to provide continuous epidural anesthesia, the observation group in continuous epidural anesthesia combined with psychological intervention measures. Results The two groups of pregnant women at different time scales VAS score, duration and other indicators, the data into the SPSS software, given the corresponding analysis and draw conclusions. Results The two groups of pain VAS score had no significant difference, the observation group each time after analgesia VAS score decreased than the control group(P<0.05); the first stage of the observation group was shorter than the control group (P<0.05), there was no significant difference between the 2 groups of second, third labor time. Conclusion Conclusion Epidural anesthesia and psychological intervention combined with painless labor have good analgesic effect and shorten the first stage of labor. .

Objective To evaluate the effect of off-pump coronary endarterectomy (CE) plus off-pump coronary artery bypass grafting (off-pump CABG) on patients with chronic total occlusion (CTO) combined with diffuse distal atherosclerosis. Methods From October 2006 to August 2009,65 CTO patients with 176 angiographically confirmed vascular stenosis or occlusive lesions, 70 of which were complete occlusion, underwent off-pump CABG. During the operation, diffuse intimal thickening distal to occlusive lesion was found, and blood flow of the bridges was unfavorable.Results Therefore endarterectomy was performed, followed by CABG. The blood flow in the bridges were 2-10 ml/min versus 14-37 ml/min before versus after endarterectomy. Pulsatility index (PI) was 5.1-15.6 versus less than 5 before versus after endarterectomy. Left ventricular ejection fraction was also improved significantly [before operation: (0.47±0.12)%, after operation: (0. 52±0.15)%, t=2.17, P＜0.05]. Peri-operative myocardial infarction occurred in 2 cases, but without significant cardiac homodynamic changes. And 23 patients underwent coronary angiography to evaluate graft patency 3-18 months after operation, all of them had favorable blood flow. Conclusions It is feasible to perform off-pump CABG plus coronary endarterectomy for patients of chronic coronary total occlusion combined with diffuse distal atherosclerosis. This treatment is safe and effective.

ObjectiveTo observe the effect of early rehabilitation on poststroke anxiety and depression.Methods137 stroke patients with hemiplegia were divided into the rehabilitation group (70 cases) and control group (67 cases). All patients in both two groups were given routine clinical treatment, but the patients in the rehabilitation group were given regular early rehabilitation. All patients were evaluated with Bathel Index (BI), Fugl-Meyer Motor Scale (FMMS), Hamilton Depression Scale (HAMD) and Hamilton Anxiety Scale (HAMA) before and 3 months after treatment.ResultsAfter 3 months treatment, the scores of HAMD, HAMA, BI and FMMS of patients in the rehabilitation group increased significantly compared with those before treatment ( P<0.05～0.01), and those in the control group ( P<0.05). The scores of BI and FMMS of patients in the control group after treatment also increased significantly compared with those before treatment ( P<0.05). The incidences of depression and anxiety of the rehabilitation group were 22.86% and 5.71%, those of the control group were 40.30% and 16.42%, there was a significant difference between two groups( P<0.05).ConclusionThe early rehabilitation can obviously decrease anxiety and depression of stroke patients with hemiplegia.

Colorectal Neoplasms ; drug therapy ; pathology ; therapy ; Humans ; Pathology, Clinical ; organization & administration ; standards

Adult ; Diagnosis, Differential ; Female ; Gastrectomy ; methods ; Gastrointestinal Stromal Tumors ; metabolism ; pathology ; Humans ; Ki-1 Antigen ; metabolism ; Leukocyte Common Antigens ; metabolism ; Leukosialin ; metabolism ; Lymphoma, Large-Cell, Anaplastic ; metabolism ; pathology ; surgery ; Melanoma ; metabolism ; pathology ; Mucin-1 ; metabolism ; Receptor Protein-Tyrosine Kinases ; metabolism ; Stomach Neoplasms ; metabolism ; pathology ; surgery

Antibodies, Monoclonal, Murine-Derived ; metabolism ; Brain Neoplasms ; metabolism ; pathology ; Child ; Choriocarcinoma ; metabolism ; pathology ; Chorionic Gonadotropin, beta Subunit, Human ; metabolism ; Diagnosis, Differential ; Humans ; Male ; Neoplasms, Germ Cell and Embryonal ; metabolism ; pathology ; Pineal Gland ; pathology

Adenocarcinoma ; diagnosis ; pathology ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biopsy, Needle ; methods ; Carcinoma, Squamous Cell ; diagnosis ; pathology ; False Negative Reactions ; Female ; Granuloma ; diagnosis ; pathology ; Humans ; Lung Diseases ; diagnosis ; pathology ; Lung Neoplasms ; diagnosis ; pathology ; Male ; Middle Aged ; Radiography, Interventional ; Tomography, X-Ray Computed ; Tuberculosis, Pulmonary ; diagnosis ; pathology ; Young Adult

Objective To investigate the influencing factors of the controlled virtual touch tissue quantification (VTQ) in liver of patients with type 2 diabetes mellitus (T2DM) complicated withnon-alcoholic fatty liver disease (NAFLD). Methods Two hundred and twenty-seven patients with T2DM complicated with NAFLD were enrolled in this study,and the shear wave speed of the liver was measured by VTQ. Levels of the fasting plasma glucose, glycated hemoglobin,total cholesterol three acids glyceride, low density lipoprotein, high density lipoprotein , aspertate aminotransferase , alanine aminotransferase , gamma glutamyl transpeptidase and uric acid were measured. The relationships among VTQ and the severity of NAFLD , and those quantitative indexes were analyzed. Results Univariate analysis showed that the value of shear wave speed was negatively correlated with age,duration of diabetes,INS and HDL-C,while was positively correlated with HbA1c and AST. Conclusion Age, sex and levels of serum HbA1c,INS,AST and HLD-C might affect the values of shear wave speed in patients with T2DM complicated with NAFLD.

Objective To explore the correlation between CTvolume rendering (VR) statistics and living age and to build the mathematical models for skeletal age evaluation based on the grow th rules of medi-al clavicular epiphysis of teenagers in China. Methods The thin layer CTscan and VR3D imaging re-construction of both sides of sternal ends of clavicles were exam ined for 684 teenagers aged from 15 to 25 in East and South China. The parameters of sternal end of clavicle including the longest diameter of epiphysis, the longest diameter of metaphysis, their length radio, area of epiphysis, area of meta-physic, their area ratio, and other data were measured and calculated in order to establish mathematical models of skeletal age evaluation. Fifty trained subjects were tested to verify the accuracy of the math-ematical models. Results In the same age group, the length ratio and the area ratio had significant dif-ference in genders (P<0.05). The established mathematical models showed that the grow th rules of medial clavicular epiphysis were highly correlated with the living ages. The accuracies of these models were higher than 70.5% (±1.0 year) and 82.5% (±1.5 year). Conclusion The mathematical models have easy operability and high accuracy. It can be used to confirmand sustain the conclusion of atlas method. M eanw hile, it is of great significance to study the other single skeletal age evaluation in the future.