ObjectiveTo investigate the clinical phenotypes of familial hypercholesterolemia (FH) caused by exon 13 A606T mutation in low deusity lipoprotein receptor.MethodsClinical data of the suffered family were collected and analyzed,as well as measurement of perivascular intima-medial thickness and follow-mediated-dilation function by ultrasonography.ResultsThere were totally 11 sufferers including 4 males and 9 females,aged 8-90 years,with 2 homozygotes and 9 heterozygotes.Among them, one homozygote showed angina pectoris and hematuria,both homozygotes had skin xanthomata.TC,TG,LDL-C and HDL-C were(7.39 ± 1.30) mmol/L,(0.93 ± 0.36) mmol/L,( 11.76 ± 1.10) mmol/L and ( 1.22 ±0.17) mmol/L,respectively.The left/right sided intima-medial thickness of the common,internal,external and bulb carotid artery were ( 1.15 ±0.45) mm/( 1.30 ±0.60) mm,(0.82 ±0.30) mm/( 1.00 -0.66)mm,(0.77 ±0.28) mm/(0.78 ±0.30) mm and ( 1.40 ±0.59) mm/( 1.46 ±0.71 ) mm respectively.The brachial artery flow mediated dilation rate was (4.85 ±4.80)％.Echocardiography revealed 2 patients with cardiac valvular disease and 3 with atrium septum aneurysm. ConclusionFH patients show a variety of phenotypes incuding extraordinary hypercholesterolemia,subcutaneous xanthomata and premature coronary heart disease.

Objective To study clinical efficacy of leuprorelin acetate in treatment of uterine adenomyosis with infertility.Methods From January 1,2011 to March 31,2012,166 cycles in 166 infertile patients combined with uterine adenomyosis undergoing in vitro fertilization embryo transplant (IVF-ET) with long protocol ovum induction by leuprorelin acetate in centre of medical reproduction,ningbo women and children's hospital were studied retrospectively.In the mean time,200 cycles in 200 infertile patients with tubal factors were enrolled as control group.The volume of uterus and outcome of IVF-ET were compared and studied between two groups.Results (1) Volume of uterus:in adenomyosis group,after 2-6 cycles of injecting leuprorelin acetate (3.75 mg/28 days),the mean uterine volume was shrinked from (180 ±73) cm3 to (86 ± 67) cm3 (P ＜ 0.05).(2) Outcome of IVF-ET:the rate of embryo implantation was 39.1％ in adenomyosis group and 35.8％ in control group.The rate of clinical pregnancy was 54.2％ in adenomyosis group and 53.7％ in control group.The rate of abortion was 4.7％ in adenomyosis group and 4.2％ in control group.They all did not show statistical differences (P ＞0.05).(3) In adenomyosis group,the rate of fertilization,two pronuclear (2PN) and superior embryo were 67.2％ (319/475),60.8％(289/475) and 52.9％ (162/306) in patients with failed pregnancy and 74.2％ (423/570),67.7％(386/570) and 62.1％ (256/412) in patients with successful pregnancy after IVF-ET,which reached significant difference (P ＜ 0.05).Conclusion Leuprorelin acetate could improve volume of uterine adenomyosis and outcome of pregnancy in patients undergoing IVF-ET.

A total of 296 patients were randomly divided into short message group (n =153) and non short message group (n =143).The former group received short message service (SMS) for follow-ups while the latter group had routine oral follow-ups.The return visit rate,recall rate of glycosylated hemoglobin (HbA1c),HbAlc level and glucose control rate for diabetics were assessed after one-year follow-up.The return visit rate (96％) and recall rate of HbAlc (78％) in the short message group were significantly higher than those in the non-short message group (59％,25％,P ＜0.01 for both).The HbAlc level after one-year follow-up (6.51 ± 0.74) ％ was lower than that one year before (6.85 ± 1.26) ％ in the short message group.The glucose control rate after one year (82％) were significantly higher than that one year before in the short message group (65％) and that after one year in the non-short message group(59％,P ＜ 0.01).Use of SMS platform system for follow-ups and health education can effectively improve the return visit rate and glucose control rate,lower the HbA1c level.in diabetics.

Objective To evaluate the echocardiographic features of coronary artery dilation (CAD) and coronary artery aneurysms (CAA) in Kawasaki disease dynamically.Methods Echocardiography was performed in KD cases for measurement of the diameter of the coronary artery.Results Twelve CAD and four CAA were identified in forty-one patients.In CAD group,left coronary artery (LCA) is more susceptive to dilation than right coronary artery (RCA)(P<0.05).Both LCA and RCA were involved in CAA group,the maximum diameter of coronary artery is 10mm.Six to eighteen days after treatment,LCA were regressed significantly in CAD group(P<0.05),but the diameter of RCA in CAD group and coronary artery in CAA patients have no change(P>0.05).Ten coronary artery lesion patients were followed up,8 CAD cases regressed completely,1 CAA extended,the other CAA regressed completely.Conclusions In CAD group,LCA is more susceptive to dilation than RCA,but it regressed significantly in a short time after treatment.Echocardiography is a non-traumatic method to detect the coronary artery lesions in KD patients dynamically.

BACKGROUND: Coronary artery disease (CAD) risk in type Ⅱ diabetics is one of the hot topics in clinical research.OBJECTIVE: By using electron-beam tomography(EBT) technology, heart scans were performed to investigate coronary artery lesion in type Ⅱ diabetics and their CAD risks were evaluated as well.DESIGN: Comparative study based on type Ⅱ diabetics complicated with coronary artery lesion.SETTING: Gerontology department in a hospital affiliated to a military medical university of Chinese PLA.PARTICIPANTS: From January 2002 to June 2004, 93 inpatients between the ages of 36 and 78 in the Gerontology Department of Xijing Hospital, an affiliation to the Fourth Military Medical University of Chinese PLA, were selected(male 80, female 13) . Totally 25 of all the patients proved normal by physical examinations were set as normal control(male 22, female 3) group; other inpatients were divided into the abnormal blood glucose group and the coronary heart disease (CHD) group respectively according to their examination results. Of the 57 patients in the abnormal blood glucose group,49 were male and 8 were female. This group was divided into two subgroups:the impaired glucose tolerance group(IGT) containing 29 patients and the diabetes group containing 28 patients. In this group, 44 patients have had heart symptom of different extent. Of the 11 patients in the CHD group, 9 were male and 2 were female. Inclusion criteria: patients with type Ⅱ diabetes were defined by American Diabetes Association in 1979; patients with CHD were defined in the report of the Joint International Society and Federation of Cardiology/World Health Organization Task Force on the standardization of clinical nomenclature and criteria for diagnosis of ischemic heart disease in 1979, and they were all confirmed by coronary angiography. Exclusion criteeases.METHODS: Both plain EBT heart scanning and contrast-enhanced heart scanning were performed on the 93 patients to evaluate the occurrence of coronary artery calcification(CAC), the number of stenosed coronary arterie,and the number of soft plaques. Additionally, other examination results including blood glucose, blood HbA1c and blood lipid were also collected for comparison between the conditions of coronary artery and assessment of the CHD risk among groups.MAIN OUTCOME MEASUREMENTS: In all the groups, the occurrence of CAC, the number of stenosed coronary arteries and the number of plaques were compared, and the CHD risk was analyzed.RESULTS: The occurrence of coronary artery calcification was significantly increased in all the study groups as compared with the control group(x2 = 18.88, P < 0. 01 ). Increasing trend was also observed in the study groups when calculating the number of branches with coronary stenosis and plaques ( F = 10. 758, P < 0. 01; F = 9. 991, P < 0.01 ). CHD risk in diabetes was estimated to be 7. 514 (95% confidence interval, 1. 885 -63. 778).CONCLUSION: Coronary artery lesion can be easily observed in type Ⅱ diabetics,and high CHD risk is predicted in this population. Early diagnosis of CAD and early rehabilitation intervention in grade 2 are extremely important in improving the quality of life and reducing the disability ratio of type Ⅱ diabetics.Huang C, Gao JY, Wong XM, Li R, Yang AL, Zheng MW, Xue FB. Risk analysis of coronary artery disease in type Ⅱ diabetics.

Objective To investigate the expression and clinicopathological significance of CXCR4 and HIF-1α protein in esophageal squamous cell carcinoma tissue and explore their correlation.Methods The expression of CXCR4 and HIF-1α protein were assessed by immunohistochemistry SP method in 56 cases with esophageal squamous cell carcinoma and in 20 cases with surrounded normal tissue.Results The expressions of CXCR4 and HIF-lα in esophageal squamous cell carcinoma were significantly higher than those in normal tissues[62.50 ％ (35/56) vs 10.00 ％ (2/20); 57.14 ％ (32/56) vs 0(0/20)](x2=16.259,19.740,P ＜0.01).The expression of CXCR4 and HIF-1α were both correlated with invasion depth (x2 =4.736,7.665,P ＜0.05) and lymph node metastasis ( x2 =7.207,6.389,P ＜0.05),and had no correlation with cancer cell differentiation.The expressions of CXCR4 and HIF-lα in esophageal squamous cell carcinoma were positively correlated (r =0.298,P ＜0.05).Conclusion CXCR4 and HIF-1α are highly expressed in esophageal squamous cell carcinoma.The two have a close relation to esophageal squamous cell carcinoma growth,invasion and metastasis.

OBJECTIVETo visualize epicardial and intramyocardial coronary blood flow by using a noninvasive echocardiography system.

METHODSIn five juvenile swines, coronary flow imaging was used to visualize the different segments of epicardial coronary and intramyocardial arteries. Pulsed-Doppler spectrums were recorded and analyzed. The left anterior descending artery (LAD) and intramyocardial coronary blood flow signals were recorded at baseline and during dipyridamole administration.

RESULTSEpicardial and intramyocardial coronary arteries could be visualized by coronary flow imaging. The systolic component of coronary flow in the right coronary artery (RCA) was greater than in the LAD. The intramyocardial blood flow was characterized by persistent retrograde blood flow velocity during systole. Vasodilation with dipyridamole produced exaggerated differences in the phasic pattern of coronary blood flow in epicardial and intramyocardial vessels.

CONCLUSIONColor Doppler coronary flow imaging provides a noninvasive method to study the coronary blood flow.

Objective:To investigate the mechanism of methyltetrahydrofolate reductase ( MTHFR) C677T polymorphism in the pathogenesis of lower extremity deep vein thrombosis (DVT). Methods:Used retrospective controlled study method, a total of 64 DVT patients (DVT group) and 96 healthy people (control group) were enrolled in the Affiliated Hospital of Traditional Chinese Medicine, Xinjiang Medical University from August 2019 to August 2021. Clinical manifestations and related detection, including D-dimer, fibrinogen, prothrombin time, prothrombin activity and prothrombin time-international normalized ratio of the subjects were recorded, and plasma homocysteine (Hcy) and soluble endothelial cell protein C receptor (sEPCR) were detected by enzyme linked immunosorbent assay (ELISA). The polymorphism of C677T locus of MTHFR gene was detected by polymerase chain reaction-restricted fragment length polymor-phism (PCR-RFLP), and the differences of blood indexes and MTHFR genotypes between the two groups were compared. Measurement data with normal distribution were represented as mean ± standard deviation ( ± s), and comprison between groups was conducted using the t-test; the skewness data were expressed by M( Q1, Q3), and rank-sum test was used for inter-group comparison. comprison between groups of count data was conducted using the chi-square test or Fisher exact probability. Results:Compared with the control group, DVT group showed more symptoms of limb skin redness, limb swelling, skin temperature rise, local tenderness, skin rupture, skin tension, pigmentation, limb movement and sensory disturbance, the difference were statistically significant ( P<0.05); the prothrombin time-international normalized ratio [0.98(0.95, 1.04) vs 1.05(1.00, 1.13)], fibrinogen [2.76(2.31, 3.30) mg/L vs 3.36(2.74, 4.35) mg/L], D-dimer [0.52(0.38, 0.62) mg/L vs 4.73(2.44, 12.05) mg/L], Hcy[(1 639.03±390.29)ng/mL vs (2 423.03±631.95) ng/mL] and sEPCR [(108.62±25.07) ng/mL vs (137.79±26.23) ng/mL] in DVT group were significantly higher than those in control group, the difference were statistically significant ( P<0.05); the prothrombin activity [90.70% (75.80%, 100.00%) vs 103.00%(93.00%, 112.50%)] was significantly lower than that of the control group, the difference was statistically significant ( P<0.05). Compared with the control group, CC, CT, TT genotype frequency and allele frequency of MTHFR C677T site in DVT group showed a trend of change, but the difference were not statistically significant ( P>0.05). Conclusion:TT mutation at MTHFR C677T site in patients with DVT has an increasing trend, which may promote the expression level of Hcy, and high expression of Hcy and sEPCR can induce the occurrence and development of DVT.

Objective:To understand the status of psychological capital and disaster preparedness of clinical nurses and analyze the relationship between them.Methods:From August to October 2020, 508 clinical nurses were selected from 8 Class Ⅲ hospitals in Zhejiang province by convenience sampling method. General information questionnaire, nurses' psychological capital questionnaire and disaster preparedness questionnaire were used. A total of 508 questionnaires were sent out and 503 valid questionnaires were collected with an effective rate of 99.01%.Results:The total score of disaster preparedness score of 503 clinical nurses was (179.53±41.11) points, mean items score was (3.99±0.91) points, psychological capital was (91.86±14.68) points, mean items score was (4.49±0.73) points. Correlation analysis showed that nurses' psychological capital was positively correlated with disaster preparedness ( r value was 0.610, P<0.05). Regression analysis showed that psychological capital, department, working years, whether participated in disaster training and disaster event rescue had significant impact on disaster preparedness of clinical nurses ( t values were 2.002-16.770, P<0.01 or 0.05). Conclusions:The knowledge, skills and post disaster management of clinical nurses are still deficient. Psychological capital affects the level of disaster preparedness of nurses to a certain extent. Nursing managers should formulate targeted intervention measures to enhance the level of psychological capital of nurses, so as to better improve the disaster preparedness of clinical nurses.

Postzygotic mutations are acquired in normal tissues throughout an individual's lifetime and hold clues for identifying mutagenic factors.Here,we investigated postzygotic mutation spectra of healthy individuals using optimized ultra-deep exome sequencing of the time-series samples from the same volunteer as well as the samples from different individuals.In blood,sperm,and muscle cells,we resolved three common types of mutational signatures.Signatures A and B represent clock-like mutational processes,and the polymorphisms of epigenetic regulation genes influence the pro-portion of signature B in mutation profiles.Notably,signature C,characterized by C＞T transitions at GpCpN sites,tends to be a feature of diverse normal tissues.Mutations of this type are likely to occur early during embryonic development,supported by their relatively high allelic frequencies,presence in multiple tissues,and decrease in occurrence with age.Almost none of the public datasets for tumors feature this signature,except for 19.6％of samples of clear cell renal cell carcinoma with increased activation of the hypoxia-inducible factor 1(HIF-1)signaling pathway.Moreover,the accumulation of signature C in the mutation profile was accelerated in a human embryonic stem cell line with drug-induced activation of HIF-1α.Thus,embryonic hypoxia may explain this novel signature across multiple normal tissues.Our study suggests that hypoxic condition in an early stage of embryonic development is a crucial factor inducing C＞T transitions at GpCpN sites;and indi-viduals'genetic background may also influence their postzygotic mutation profiles.