Genetic susceptibility factor is one of the important reasons to induce breast cancer. Breast cancer risk variants are divided into three categories including high, moderate and low penetrances. Traditional BC susceptibility gene discovery approaches limit the search for breast cancer susceptibility genes with high and moderate risk variants. Whole exome sequencing technology provides a quick and efficient method to discover breast cancer susceptibility genes. At present, a number of breast cancer susceptibility genes have been identified by whole exome sequencing method, which provides useful guidance for the risk assessment and pathogenesis of hereditary breast cancer. In this paper, we reviewed the whole exome sequencing technology and discussed the experimental design, data filtering strategy, statistical significance and correlation analysis.

Renin-angiotensin system (RAS) is correlative with many diseases. Angio tensin II (AngII) plays an important role as the final effective approach for RAS. This article reviews the main approach to the action and biosynthesis of AngII: including AngII receptor blocker (ARB), chymase inhibitor and ACE2 which were disscoverd recently.

Objective To investigate the effect of 3‐dimensonal conformal radiotherapy (3D‐CRT ) combined with dendritic cell‐cytokine induced kill (DC‐CIK) cell in the treatment of recurrent small cell lung carcinoma (SCLC) in high altitude regions ,and its influence on VEGF and NSE .Methods Eighty‐five patients with recurrent SCLC in the tumor radiotherapy department of the Qinghai Provincial Fifth People′s Hospital from May 2012 to April 2014 were selected and divided into the control group(41 cases) and observation group(44 cases) according to the random number table .The two groups were respectively treated by 3D‐CRT treat‐ment and 3D‐CRT combined with DC‐CIK treatment cell .The curative effect ,incidence rate of adverse reactions ,levels of VEGF and NSE ,changes of liver and renal function indexes in the two groups were compared before and after treatment .Results The ef‐fective rate and sickness control rate of the observation group were 65 .9% and 79 .5% respectively ,which were higher than those in the control group ,and the differences were statistically significant (P<0 .05) .The levels of serum EGF and NSE ,and pain score at 4 ,8 weeks after treatment were decreased ,the differences were statistically significant (P<0 .05) .The levels of VEGF and NSE , and pain score at 8 weeks after treatment in the observation group were lower than those in the control group ,the differences were statistically significant(P<0 .05) .The incidence rate of adverse reactions in the two groups had no statistically significant differ‐ences after treatment(P>0 .05) .The levels of liver and renal function indexes had no statistically significant differences between before and after treatment(P>0 .05) .Conclusion 3D‐CRT combined with DC‐CIK cell in the treatment of recurrent SCLC in high altitude regions has more obvious curative effect ,moreover has no obvious influence on radiotherapeutic adverse reactions ,and liver and renal functions .

This study was conducted to evaluate the effects of lead on the incidence of anemia and to find cases with lead poisoning early among female workers who have been exposed to lead occupationally, for one year from August, 1985. The level of blood lead and hemoglobin concentration were observed for 284 female lead workers and 123 female non-lead workers of industries in the Gumi industrial complex in Kyungpook Province. The average age was 20.3±2.9 years and 21.1±3.5 years in lead workers and non-lead workers, respectively. The average working duration was 26.46±19.26 months in lead workers. The mean value of blood lead was 30.11±6.61 µg/100 ml and 21.86±3.75 µg/100 ml in lead workers and non-lead workers, respectively. There were significant differences between two groups. The mean value of hemoglobin concentration was 14.00±0.57 g/100 ml and 14.03±0.64 g/100 ml in lead workers and non-lead workers, respectively. Anemia cases were not observed at Hb concentration below 12g/100 ml. The percentages of lead workers at Hb concentration ranged 12.0~13.0 g/100 ml were 4.5%. There was no dose-response relationship between blood lead level and the incidence of anemia. There were no remarkable differences between age and blood lead level as well as Hb concentration, and between working duration and the level of blood lead and hemoglobin.
Anemia ; Female* ; Gyeongsangbuk-do ; Humans ; Incidence ; Lead Poisoning ; Occupational Exposure* ; Occupations

No abstract available.
Leprosy*

Objective To evaluate the application of tubular stomach gastroesophagostomy on the life quality after esophagectomy surgery.Methods From March 2011 to September 2011,66 cases of esophageal cancer patients were divided in two groups in randomized principles.Tirty-four cases in group of tubiform gastro surgery whose the stomach was cut into tubiform stomach in width of 4 cm.And 32 cases of conventional group and whose surgery method was adopted to maintain whole stomach but cut the cardia.And then,using statistical methods,life quality after esophagectomy (treatment related symptoms,general symptoms,daily life,social life,emotional activities) and the perioperative complications were evaluated in 3,6,12,24 months in comparison and analysis.Results Sixty-six surgeries of both group patients were successfully performed,tumor resection rate was 100％,and there was no intraoperative accident also no perioperative death.There was no statistical significance of perioperative complications of 2 groups (P ＞ 0.05).Life quality of tubiform gastro group had improved apparently more than conventional group at the 3rd,6th,12th and 24th month after surgery(78.68 ±2.23 vs 65.94± 4.13,83.79 ± 2.40 vs 66.84 ± 5.86,86.41 ± 1.94 vs 67.09 ± 4.43,89.02 ± 1.71 vs 68.88 ±3.53,P＜0.05).At each time point,there were statistically significant differences between tubiform gastro group and conventional group on treatment related symptoms,general symptoms,daily life,emotion activities (P ＜0.05).At the 3rd,6th month after surgery,tubiform gastro group and the conventional group had no statistically significant difference in the aspect of social life (P＞0.05).In the conventional group,the evaluation of quality of life at each time point after surgery and before a point in time in the same group showed no statistical significance (P＞0.05).Conclusion Tubiform gastro esophagectomy has a positive influence on life quality of patients of esophageal cancer after surgery prospectively.

Objective To investigate the role of contrast enhanced ultrasound (CEUS) in detecting type Ⅰ and Ⅱ endoleaks after endovascular abdominal aortic aneurysm repair (EVAR).Methods PostEVAR patients who met the inclusion criteria were enrolled.All of patients underwent CEUS and computer tomography angiography (CTA) examination.The following parameters were evaluated:ultrasound contrast agent within aneurysmal sac,location and source of endoleaks,wash-in time of endoleaks and stentgraft since contrast agent injection.Analysis was performed to observe different types of endoleak features in CEUS.Results Nine cases were enrolled and all the cases had endoleaks.Three cases were type Ⅰ,6 cases were type Ⅱ.The wash-in time of type Ⅱ endoleaks delayed 9.8 seconds compared to type Ⅰ,and the results of CEUS diagnosis were consistent with CTA.Conclusions CEUS is an effective way to detect endoleaks.This technique can be used as a supplement for CTA in follow-up of post-EVAR patients.

No abstract available.
Humans ; Immunosuppression ; Mycobacterium chelonae*

No abstract available.
Scalp*

Williams syndrome is a progressive and multisystemic disorder. We experienced one case of Willams syndrome which was characterized by elfin facies, mental retardation, diffuse aortic hypoplasia, mitral regurgitation and chronic nonparoxysmal sinus tachycardia. The tachycardia has been managing with beta-blocker successfully. We presented a case of unusual form of Williams syndrome with a reivew of literatures.
Facies ; Intellectual Disability ; Mitral Valve Insufficiency ; Tachycardia ; Tachycardia, Sinus ; Williams Syndrome*