Purpose/Significance To elucidate the complex relationship among face phenotype-disease-gene,and to explore the underlying mechanisms of their interactions.Method/Process Based on scientific literature from the PubMed database,natural language processing tools and manual filtering methods are used to extract the knowledge of the concept and relationship of face phenotype-disease-gene reported in the existing literature,and a knowledge base is constructed.Result/Conclusion The study completes the framework design and construction of the knowledge base of the face phenotype-disease-genotype for intelligent health application,which lays a foundation of both data and theory for exploring the interplay between face phenotype-disease-gene,as well as the potential application of face phenotype in disease diagnosis.

Objective To investigate the clinical treatment strategy of large and giant pituitary adenomas invading the cavernous sinus.Methods One hundred and nine patients with large and giant pituitary adenomas invading the cavernous sinus,admitted to our hospital from January 2010 to December 2018,were chosen in our study.Four patients with prolactin-type pituitary adenomas received oral treatment with bromocriptine;the remaining 105 patients received surgical treatment,and choices of surgical approach were based on classification of pituitary adenomas.The clinical data and efficacies of these patients accepted different treatment approach were retrospectively analyzed.Results Of the 105 patients with pituitary adenomas,63 (60％) were of type Ⅰ,15 (14.3％) were of type Ⅱ,18 (17.1％)were of type Ⅲ,and 9 (8.6％) were of type Ⅳ.Single extended transsphenoidal approach was used in 75 patients,transcranial approach was used in 26 patients,and combined extended transsphenoidal and transcranial approach was used in 4 patients.Gross total tumor resection was achieved in 86 patients,subtotal resection in 17 patients,and partial resection in two patients.Ten patients had new cranial nerve palsy after surgery,including 7 with oculomotor nerve palsy and three with abductor nerve palsy;two patients with preoperative neurological paralysis were aggravated,and both of them were oculomotor nerves;transient insipidus was noted in 19 patients and electrolyte disorder was noted in 23 patients;no permanent insipidus,cerebrospinal fluid leakage or intracranial infection,and no new or aggravated visual field vision disorder were noted.Conclusion Reasonable clinical treatment strategies and appropriate microsurgical approaches can achieve good therapeutic effect in patients with large and giant pituitary adenomas invading the cavernous sinus.

Objective To screen patients with clopidogrel resistance and develop accurate anti-platelet therapy strategies based on CYP2C19 gene polymorphism.Methods A total of 200 patients with acute coronary syndrome/percutaneous coronary angioplasty were selected.The pyrophosphate sequencing technology was using to detect CYP2C19 gene polymorphism for identifying clopidogrel poor metabolizers and guide antiplatelet therapy according to the development of clopidogrel resistance strategies.Results The proportion of patients with clopidogrel resistance (including intermediate metabolizers and slow metabolizers) was about 63.5%.In clopidogrel intermediate metabolizers, 41.4% cases were applied double dosages of clopidogrel and about 20.2% patients were given ticagrelor instead of clopidogrel.For clopidogrel slow metabolizers, approximately 39.3% cases were given doubled dosage of clopidogrel and 46.4% cases were given ticagrelor.Compared with previous data, the proportion of individual treatment of clopidogrel resistance was significantly increased in this study.Conclusion The strategies for the treatment of clopidogrel resistance, which based on the polymorphism of CYP2C19 gene, have been achieved initial success.

Objective: To investigate the efficacy and safety of using pegylated recombinant human granulocyte-colonystimulating factor (PEG-rhG-CSF) in preventing neutropenia in multiple chemotherapy cycles. Methods: A multicenter, prospective, open-label, singlearmstudy was designed. Patients with malignant tumors, such as lung, ovarian, and colorectal cancers, who received multiple cycles of chemotherapy with the prophylactic use of PEG-rhG-CSF for 2-4 consecutive cycles participated in the study. Results: After the prophylactic use of PEG-rhG-CSF, the incidence of grade IV neutropenia decreased from 4.76% (13/273) in the first cycle to 1.83% (5/273), 1.15% (2/174), and 2.08% (2/96) in subsequent cycles. Meanwhile, the incidence of grade III neutropenia decreased from 11.36% (31/ 273) in the first cycle to 6.23% (17/273), 2.87% (5/174), and 3.13% (3/96) in subsequent cycles. The incidence of febrile neutropenia (FN) during the first cycle was 0.73% (2/273). The duration of FN was 2 days in one case and 5 days in another case. FN was not observed during the second, third, or fourth cycle. After the secondary prophylactic use of PEG-rhG-CSF, the incidence of grade IV neutropenia decreased from 25% (7/28) to 3.57% (1/28), 0% (0/28), and 6.67% (1/15) in subsequent cycles. Meanwhile, the incidence of grade III neutropenia decreased from 71.43% (20/28) to 10.71% (3/28), 14.29% (4/28), and 0% (0/15) in subsequent cycles. The proportion of patients who received antibiotic therapy during the entire chemotherapy period was 10.48% (44/420). Conclusion: The application of PEG-rhG-CSF once per chemotherapy cycle can effectively reduce the occurrence of neutropenia in patients under multiple cycles of chemotherapy treatment with good safety.

Objective To explore the influence of drug dosage, solvent and other main influencing factors on the successful establishment of alloxan-induced hyperglycemia mouse model and the effect on the stability of this model. Methods 160 6-8-week-old Kunming mice ofSPF grade, (male:female=1:1) were used in this study.The influences of different dosages of alloxan and solvent combinations on the successful establishment rate of the model, survival rate, body weight, fasting blood glucose, blood glucose area under curve, serum insulin level and their stabilities were dynamically observed for six weeks.Results By single intraperitoneal injection of 160 mg/kg bw alloxan ( pH 4.5 citrate sodium as solvent) , we were able to obtain a stable experimental hyperglycemic mouse model with higher levels of successful establishment rate (70%), survival rate (75%), fasting blood glucose (15-20 mmol/L), glucose area under the curve (55-65 mmol/L) and a lower but not loss of serum insulin levels (21 mIU/L).Conclusions In the present study we have carefully considered the influence of main factors such as drug dosages, solvent, etc., on the alloxan-induced experimental hyperglycemic mouse model, and successfully established this model after 6-week period observation of its stability.This model may provide a useful tool in the research of experimental diabetes and hypoglycemic functional studies.

Objective In order to screen effective traditional Chinese medicine compounds to prevent and control porcine respiratory disease syndrome ( PRDC) , seven compound preparations of traditional Chinese medicine were tested and to analyze their antitussive and expectorant effects in mice .Methods Two hundred 6-week old ICR mice ( male∶fe-male=1∶1) were used in this study .Dextromethorphan and ammonium chloride were used as positive control drugs , and physiological saline was used as blank control .The antitussive and expectorant effects of the seven Chinese medicine com-pounds (groups 1, 2, 3, 4, 5, 6, 7) were observed by ammonia-induced cough model and tracheal phenol red secretion method in mice .Results The results showed that compounds 7 and 5 significantly prolonged the cough incubation period (P <0.05), and reduced the cough times within 5 min (P <0.05).Except for the group 4, tracheal phenol red excre-tion in the other groups was significantly lower than that of blank control group (P <0.05), and phenol red excretion in the mice of groups 7, 5 and ammonium chloride group was significantly lower than that in other treatment groups ( P <0.05).Conclusions The Chinese medicine compounds 5 and 7 show most evident expectorant effects , and worthy of fur-ther validation of them as a drug in the treatment of porcine respiratory disease syndrome .

Objective To evaluate application value of choledochoscope and nasal bile duct drainage in the treatment of complicated liver echinococcosis combined biliary fistula.Methods The anthors retrospectively summarized and analyzed the clinical data of 144 patients with complicated liver echinococcosis combined biliary fistula.Treatment group (n 68) underwent liver hydatid internal capsule remove + intraoperative choledochoscopy and nose biliary drainage,control group (n-76) underwent the traditional internal capsule remove.The average length of hospital stay,residual cavity drainage catheter time,residual cavity bile leakage and residual cavity infection index of two groups were measured.Results The rate of T tube utilization,residual cavity infection,the incidence of biliary fistula in treatment group were significantly lower than the control group (P＜0.05).The length of hospital stay,the rate of discharge with drainage tube and the average length with tube were significantly less than control group (P＜0.05).Conclusion Intraoperative choledochoscopy and nasal bile duct drainage treatment of complicated liver hydatid,can reduce liver hydatid content residual and biliary fistula,reliable to deal with biliary fistula,part of a primary suture common bile duct,biliary fistula and residual cavity infection rate is low,patients recover quickly,shorter time of hospital stays,is worth popularizing.

Objective To explore the safety and effectiveness of transurethral resection of the prostate (TURP) for large benign prostatic hyperplasia.Methods A total of 56 cases of patients with large benign prostatic hyperplasia were analyzed retrospectively.Results The weight of prostate tissue resected with TURP was 60.2 g (48-122 g).The resection rate was 60％,operation time 113.4 min (70-180 min).The lower urinary tract symptoms (LUTS) after TURP was improved significantly.The international prostate symptom scores (IPSS) of 38 cases were decreased from (25.6±1.5) before operation to (6.0± 2.0) after operation.The maximum urine flow rate were increased from (5.0±1.9) ml/s to (18.0±4.5) ml/s.The mean residual urine volume of 22 cases were reduced from 95 ml (40-250 ml) to 10 ml (0-60 ml).Conclusions Skilled TURP technology for large benign prostatic hyperplasia is a safe treatment with good effect and low complications rates.

The expression of Toll-like receptor 4 (TLR4) in neonatal cord blood mononuclear cells (MNCs) and serum TNF-α were investigated in order to explore the roles of TLR4 in the pathogenesis of preeclampsia. The study enrolled 27 patients suffering from preeclampsia (experimental group) and 21 normal pregnancy patients (control group). After MNCs were separated, the expression of TLR4 mRNA and protein was detected by using real-time quantitative PCR and Western blotting respectively, and the expression of TNF-α by using ELISA. The results showed the TLR4 mRNA level in cord blood MNCs (2(-ΔCT): 0.07±0.17), TLR4 protein expression level (absorbance ratio: 0.81%±0.15%) and TNF-α level (9.5±1.73 pg/mL) were all increased in experimental group as compared with control group with the differences being statistically significant (P<0.05). There was a positive correlation between the expression of TLR4 mRNA and TNF-± in both experimental group and control group (r=0.54 and 0.53, respectively, P<0.05). It was concluded that TLR4 expression in the experimental group of cord blood MNCs was increased and there was a positive correlation between the expression of TLR4 mRNA and TNF-α in both groups. TLR4-mediated release of inflammatory cytokines may be one of the important reasons leading to preeclampsia.

The expression of Toll-like receptor 4 (TLR4) in neonatal cord blood mononuclear cells (MNCs) and serum TNF-α were investigated in order to explore the roles of TLR4 in the pathogenesis ofpreeclampsia. The study enrolled 27 patients suffering from preeclampsia (experimental group)and 21 normal pregnancy patients (control group). After MNCs were separated, the expression of TLR4 mRNA and protein was detected by using real-time quantitative PCR and Western blotting respectively, and the expression of TNF-α by using ELISA. The results showed the TLR4 mRNA level in cord blood MNCs (2-△CT: 0.07±0.17), TLR4 protein expression level (absorbance ratio:0.81%±0.15%) and TNF-a level (9.5±1.73 pg/mL) were all increased in experimental group as compared with control group with the differences being statistically significant (P＜0.05). There was a positive correlation between the expression of TLR4 mRNA and TNF-α in both experimental group and control group (r=0.54 and 0.53, respectively, P＜0.05). It was concluded that TLR4 expression in the experimental group of cord blood MNCs was increased and there was a positive correlation between the expression of TLR4 mRNA and TNF-α in both groups. TLR4-mediated release of inflammatory cytokines may be one of the important reasons leading to preeclampsia.