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.

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

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

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

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

Objective To study the relationship between tyrosine phosphorylation(TP)and protein expression of insulin receptor substrate-1(IRS-1)and insulin resistance in patients with gestational diabetes mellitus(GDM).Methods IRS-1 expression and TP in skeleton muscle tissue were determined by Western blot and immunoprecipitation in women with GDM(GDM group,n=22),normal pregnant women(normal pregnancy group,n=22)and normal nonpregnant women(normal nonpregnant group,n=13).Fasting plasma glucose(FPG)and fasting insulin(FINS)were measured by oxidase assay and immunoradioassay. Results(1)The levels of FPG,FINS,and insulin resistance index were calculated according to homeostasis model assessment [ HOMA-IR;(5.6?0.8)mmol/L,(15.4?5.1)mU/L,and 1.2?0.5 ] in GDM group were significantly higher than those in normal pregnancy group [(4.4+0.5)mmol/L,(10.6 ?3.1)mU/L,and 0.8?0.3;P

1 ?mol?L-1,and it was defined as "delayed" MTX elimination.Intra-patient variability in C48 was significant(P=0.000).Risk factors that correlated with increased C48 of MTX were boys,abnormal urine routine tests within 1 week before infusions,concurrent infections within 2 weeks before infusions,and co-administration of ceftriaxone(P