Next-generation sequencing has revolutionized family-based association tests for rare variants. As the lower power of genome wide association study for detecting casual rare variants, methods aggregating effects of multiple variants have been proposed, such as burden tests and variance component tests. This paper summarizes the methods of rare variants association test that can be applied for family data, introduces their principles, characteristics and applicable conditions and discusses the shortcomings and the improvement of the present methods.
Computer Simulation ; Family Relations ; Genetic Association Studies ; Genetic Variation ; Genome-Wide Association Study/methods* ; Humans

Objective To Investigate the cause of a food poisoning incident in a city in Dehong Prefecture， determine the scope of the incident， and to formulate effective prevention and control measures. Methods Field epidemiology and case-control study methods were used to formulate case definition； carry out case search； find suspicious food combined with clinical manifestations， dining history and other information； and collect samples from the suspicious food， cases and environment for laboratory testing. Results A total of 160 cases were found and the incidence rate was 26.02% （160/615）. The main clinical manifestations were diarrhea， leukocytosis， vomiting， nausea and abdominal pain. The average incubation period was 10.89±5.09 h， with 2 h as the shortest and 28 h as the longest. The epidemiological curve suggested the point source exposure mode. The results of case-control study showed that eating roast pork with green shoots was an independent risk factor （OR=13.09， 95%CI： 3.26‒52.54）.16 samples were tested by the local CDC laboratory. Proteus mirabilis was detected in two the anal swabs of two patients He and Chen. Both proteus pani and proteus mirabilis were detected in anal swab of patient Zhou and Proteus pani was detected in roast meat. There was no detection of pathogenic bacteria in other samples. Conclusion Based on the field epidemiological investigation and laboratory test results， we conclude that the food poisoning incident is caused by suspected proteus bacteria. We suggest that the market supervision department should strengthen the supervision of local food hygiene； clarify the sampling rights， responsibilities and technical procedures when medical institutions treat patients with foodborne diseases； ensure finding the causes in time； and take effective prevention and control measures to avoid similar food poisoning events.

Since the outbreak of COVID-19, the hospital is faced with such challenges as sustained input in patient screening, referral and rescue, supportive medical supplies including the management of personal protective supplies and the maintenance of medical equipment. In the face of increasing workload, the medical materials support team of the hospital took the following measures in the principles of " discovering new sources of supplies and minimizing consumption" . These measures taken include proactive supply procurement strategy, prioritizing allocations based on risk exposure, uniform distribution of supplies based on inventory and usage, and traceable management for donated supplies; optimal and central deployment of equipments, emergency installation, pre-maintenance and emergency repairs for equipments; efficient and safe sterilization of reusable materials and equipments using sterilizers; enhanced personnel training and management to keep updating the medical supplies capacity of the team. All these efforts have contributed significantly to the orderly work of epidemic control.

Objective To compare the efficacy difference of Green Forsythiae Fructus and Ripe Forsythiae Fructusby using Lianqiao powder and Yinqiao powder in the classic formula; To provide experimental evidence for the guidance of one for dual-use of the Forsythiae Fructus. Methods The guinea pig sore model was made with Staphylococcus aureus. 40 guinea pigs were randomly divided into blank group, model group, Lianqiao powder Green Forsythiae Fructus group and Lianqiao powder Ripe Forsythiae Fructus group. The blank group and the model group were fed with normal saline, while Lianqiao powder Green Forsythiae Fructus group and Lianqiao powder Ripe Forsythiae Fructus group were treated with 1.2 g raw medicine/kg liquid Lianqiao powder Green Forsythiae Fructus and Lianqiao powder Ripe Forsythiae Fructus for 7 d. The symptom score, blood and pathological changes of guinea pig soreness were observed. The model of acute lung injury was induced by 10% LPS aerosol inhalation. 40 rats were randomly divided into blank group, model group, Yinqiao powder Green Forsythiae Fructus group and Yinqiao powder Ripe Forsythiae Fructus group. The blank group and the model group were fed with normal saline, while Yinqiao powder Green Forsythiae Fructus group and Yinqiao powder Ripe Forsythiae Fructus group were treated with 4 g raw medicine/kg liquid Yinqiao powder Green Forsythiae Fructus and Yinqiao powder Ripe Forsythiae Fructus for 10 d. The levels of IL-6, TNF-α and IL-1β in the lung lavage fluid were detected. Results The effect of Lianqiao powder Green Forsythiae Fructus on the wound healing of guinea pig sore wound was faster than that of Lianqiao powder Ripe Forsythiae Fructus, but there was no significant difference between Lianqiao powder Green Forsythiae Fructus group and Lianqiao powder Ripe Forsythiae Fructus group in inhibiting the secretion and pathological changes of guinea pig sore wound. The levels of IL-6, TNF-α and IL-1β in Yinqiao powder Green Forsythiae Fructus group was lower than that in Yinqiao powder Green Forsythiae Fructus group, without statistical significance. Conclusion It is verified that there is efficacy differences between Green Forsythiae Fructus and Ripe Forsythiae Fructus in the different Chinese herbal compound.

Objective: To analyze the morbidity, clinical characteristics, therapeutic outcomes and prognosis of cardiac lymphoma. Methods: Individual patient data were obtained from pathology defined 10 cases of cardiac lymphoma from Jan 2000 to Jun 2016. The patient’s general information, clinical manifestation, pathological diagnosis, laboratory examination, cardiac involvement feature, cardiac complications, treatment, therapeutic effect and prognosis were analyzed. Results: Of 3 918 cases of lymphoma patients, 10 cases of cardiac involvement were identified, including primary cardiac lymphoma (PCL) in 1 case, secondary cardiac lymphoma (SCL) in 9 cases. Of the 10 patients in our analysis, the male-to-female ratio was 3∶2, with a median age of 55 (19-88) years old. The most presenting complaints were dyspnea in 7 cases, followed by chest pain in 5 cases, fatigue in 2 patients and edema in 2 cases. Pathological types included diffuse large B cell lymphoma (DLBCL) in 7 cases, T cell lymphoma (T-LBL) in 1 case, Hodgkin’s lymphoma (HL) in 1 case, and Burkitt lymphoma (BL) in 1 case. The sites of the heart affected by lymphoma in the PCL patient were right and left atriums with multiple nodules; and for SCL, the sites were mainly pericardium associated with a pericardial effusion in 5 cases, a pericardial mass in 2 cases. Congestive heart failure affects 7 patients and cardiac arrhythmias were identified in 4 cases mainly sinus tachycardia, atrial fibrillation and atrioventricular block. Except one untreated because of old age and poor performance, the rest of 9 patients were treated by either chemotherapy in 4 cases or chemotherapy combined radiotherapy (including the extracardiac sites) in 5 patients. With the median follow-up of 9 months, the one PCL patient achieved partial response (PR) , progress free survival (PFS) for 6 months and the overall survival (OS) for 21 months; in the cohort of 6 SCL patients cardiac involved at diagnosis, complete response (CR) was achieved in 1 case (16.7%) , PR in 3 cases, progressing disease (PD) in 2 cases, with the median PFS for 5 months and the median OS for 19 months; and for the other 3 SCL patients cardiac involved at progression, PR was achieved in 2 case and death in 1 case, with the median PFS for 4 months and the median OS unavailable because of censored data. Conclusion Cardiac lymphoma represents a rare subset of lymphoma, the most common type is DLBCL, and the main clinical manifestations are dyspnea and chest pain, always combined by arrhythmia and congestive heart failure. The main therapeutic regimen for cardiac lymphoma includes combined chemotherapy and the prognosis for patients with either PCL or SCL is usually poor.

Summarize the application of SOAP in the medical field and find out its problems in the course of traditional Chinese medicine, to explore the significance and value of SOAP in teaching practice in TCM. Organize relevant literature and discuss the application of SOAP in the course of Chinese medicine. SOAP is widely used in various aspects of medicine, and there are still some problems in the course of TCM. The use of SOAP model for teaching and assessment has important practical significance and value in the course of Chinese medicine internal medicine practice, and SOAP emphasize the practice of the post competence oriented teaching, which is worth promoting.

Objective: To optimize extraction process of Yinsangju solid beverage(YSJ). Methods: The extraction of YSJ was preliminarie optimized through the orthogonal design,and then further optimized by Box-Behnken design-response surface with the overall desirability (OD) of chlorogenic acid and polysaccharide content and yield of extract as evaluation indexes. Results: The optimum extraction of orthogonal design was as follow: 10 times the amount of water,soaked 0.5 h,extracted 2 times,each time 1.5 h. The optimum extraction of Box-Behnken design was 10.82 times the amount of water,soaked 0.51 h,extracted 2 times,each time 1.77 h. Conclusion: The test results show that the Box-Behnken response surface method optimization of extraction process parameters is more precise and more detailed and predictability is good, and the product quality is improved.

Objective To evaluate the impact of sub-stage on the clinical prognosis of T 1 G3 and evaluate the feasibility of the T1me system in pT1G3 sub-staging.Methods The clinical data,pathological specimen and follow-up data were collected from 56 patients out of 87 patients diagnosed with initial high-grade T1 bladder urothelial carcinoma .The patients were divided into Group A [ T1-microinvasive (T1m),17 cases] and group B [T1-extensive-invasive (T1e),39 cases] according to pathological evaluation after transurethral resection.Clinical parameters were analyzed with Chi-square test,and recurrence-free and progression free survival were obtained by Kaplan-Meier analysis and Log-rank test.Results Age,tumor size,number and intravesical instilled medication showed no significant differences between the 2 groups ( P>0.05 ) .There were significant differences of 5-year recurrence-free rate ( P =0.037 ) and progression-free survival rate ( P =0.045 ) between the 2 groups, and the prognosis of group A was significantly better than that of group B .Conclusion The pathological sub-stage is an important predictor in initial high-grade T1 bladder urothelial carcinoma patients , and the T1me system is objective and feasible.

Objective To determine the dissolution rate of Erzhi pill which was prepared by using different crushing technologies with specnuezhenide as index - and study the influence of superfine pulverization technology on the dissolution of Erzhi pill. Methods Crude drugs were crushed into the fine powder by employing general crusher and ultra-micro pulverizer-respectively. The water-honeyed pills were prepared by using these fine powders. The method of rotating basket and HPLC were used for the determination of dissolution of specnuezhenide in vitro. The data were analyzed by applying the law of Weibull. Results Compared with Erzhi pill B- the dissolution parameters of specnuezhenide in Erzhi pill A - including T50, T60, T70, T80, T90, F1h and F2h- showed significant differentce(P<0.05). Conclusion Applying the superfine pulverization technology can improve the dissolution of Erzhi pills in vitro.

BACKGROUND:It is confirmed that the characteristics of soft and hard tissue development vary largely in different vertical facial types, which reflect the development trend of the patients and the control ing degree on anchorage.
OBJECTIVE:To evaluate the influence of different vertical facial types on the aesthetic evaluation of facial profiles in young females, and analyze the perception of facial attractiveness from different people.
METHODS:Three beautiful females, with high, average and low mandibular angle, respectively were selected according to the measurement data of projection and the orthodontist’s aesthetic appreciation. They were yel ow race, bilateral facial appearance was basical y symmetrical, and no other maxil ofacial disease was found. They also received no orthodontic or orthognathic treatment. The profile digital photographs and cephalograms of three females were col ected. The positions of soft tissue lip and soft tissue chin were altered incremental y with Dolphin Imaging and Management software. Twenty-five new pictures were generated by the smal scale (2 mm per unit) modification in the sagittal direction. By using“acceptable facial appearance”as a filter, 15 orthodontists selected 11 from 25 pictures. Fifty parents of orthodontic patients, 50 orthodontic patients, and 50 amateurs were taken as the evaluators for subjective aesthetic ratings and for the assessment of the influence of vertical facial types on the facial profile attractiveness.
RESULTS AND CONCLUSION:With low and average angle, straight profile, slightly protrude chin was perceived to be beautiful. With high angle, straight profile, slightly protrude profile was perceived to be beautiful, and evaluation results are consistent between men and women. Evaluators are in agreement when it comes to evaluating the perception of facial attractiveness of three different vertical facial types profile in young females. They also have certain difference in aesthetic tendencies, but when it comes to straight profile they share the same preference. Although different vertical facial types profile has an impact on the profile of lip and chin, but it can’t represent the aesthetic preference of al evaluators.