Objective To analyze the clinical and immunological characteristics of a rare case of CHARGE syndrome,we summarize the genotype and phenotype in the Chinese patient population,and explore the underlying immunopathogenic mechanisms.Methods Clinical data from a pediatric patient with CHARGE syndrome were collected and analyzed.A comprehensive analysis of the Chinese patient population was conducted.Gene analysis and immunological characterization were performed using flow cytometry,deep sequencing,and quantitative PCR.Results The proband was a premature female infant whose primary clinical manifestations included congenital heart disease,recurrent respiratory infections,respiratory failure,airway dysplasia,hearing impairment,and bilateral choroidal coloboma.Whole-exome sequencing revealed a de novo heterozygous nonsense mutation in the CHD7 gene,c.5122C＞T(p.Gln1708Ter),classified as pathogenic according to ACMG criteria.Immunological studies indicated impaired thymic output of T cells,significant alterations in the number and proportion of CD8+T cell subsets,increased apoptosis,and defective activation and production of key effector cytokines such as IFN-γ by CD8+T cells.However,no significant abnormalities were observed in peripheral lymphocyte proliferation.Conclusion CHARGE syndrome is a rare autosomal dominant genetic disorder primarily caused by mutations in the CHD7 gene.The main clinical features include ocular defects,cardiac disease,choanal atresia/cleft lip and palate,growth retardation,gonadal hypoplasia,and ear anomalies.This case study suggests that CHARGE syndrome is associated with abnormalities in the development,apoptosis,and effector functions of immune cells.

Ischemic heart disease(IHD)is a clinical disease characterized by reduced cardiac blood flow and im-balanced myocardial oxygen supply-demand.Previous studies have shown that stress hyperglycemia is associated with in-creased mortality in patients with acute myocardial infarction and heart failure,and is a poor prognostic risk factor for ische-mic heart disease.Stress hyperglycemia ratio(SHR)is a value calculated based on the random blood glucose and glycat-ed hemoglobin levels at admission through a mathematical model.As a novel indicator,it enables more accurate assess-ment of stress hyperglycemia.Recent studies has found that SHR is closely related to coronary artery disease,acute myo-cardial infarction,and heart failure caused by IHD.This article reviews the research progress on the association between SHR and IHD from three aspects.SHR may serve as a biochemical marker for risk stratification,prognosis assessment of IHD.

Ischemic heart disease(IHD)is a clinical disease characterized by reduced cardiac blood flow and im-balanced myocardial oxygen supply-demand.Previous studies have shown that stress hyperglycemia is associated with in-creased mortality in patients with acute myocardial infarction and heart failure,and is a poor prognostic risk factor for ische-mic heart disease.Stress hyperglycemia ratio(SHR)is a value calculated based on the random blood glucose and glycat-ed hemoglobin levels at admission through a mathematical model.As a novel indicator,it enables more accurate assess-ment of stress hyperglycemia.Recent studies has found that SHR is closely related to coronary artery disease,acute myo-cardial infarction,and heart failure caused by IHD.This article reviews the research progress on the association between SHR and IHD from three aspects.SHR may serve as a biochemical marker for risk stratification,prognosis assessment of IHD.

Objective To analyze the clinical and immunological characteristics of a rare case of CHARGE syndrome,we summarize the genotype and phenotype in the Chinese patient population,and explore the underlying immunopathogenic mechanisms.Methods Clinical data from a pediatric patient with CHARGE syndrome were collected and analyzed.A comprehensive analysis of the Chinese patient population was conducted.Gene analysis and immunological characterization were performed using flow cytometry,deep sequencing,and quantitative PCR.Results The proband was a premature female infant whose primary clinical manifestations included congenital heart disease,recurrent respiratory infections,respiratory failure,airway dysplasia,hearing impairment,and bilateral choroidal coloboma.Whole-exome sequencing revealed a de novo heterozygous nonsense mutation in the CHD7 gene,c.5122C＞T(p.Gln1708Ter),classified as pathogenic according to ACMG criteria.Immunological studies indicated impaired thymic output of T cells,significant alterations in the number and proportion of CD8+T cell subsets,increased apoptosis,and defective activation and production of key effector cytokines such as IFN-γ by CD8+T cells.However,no significant abnormalities were observed in peripheral lymphocyte proliferation.Conclusion CHARGE syndrome is a rare autosomal dominant genetic disorder primarily caused by mutations in the CHD7 gene.The main clinical features include ocular defects,cardiac disease,choanal atresia/cleft lip and palate,growth retardation,gonadal hypoplasia,and ear anomalies.This case study suggests that CHARGE syndrome is associated with abnormalities in the development,apoptosis,and effector functions of immune cells.

Angiokinases, such as vascular endothelial-, fibroblast- and platelet-derived growth factor receptors (VEGFRs, FGFRs and PDGFRs) play crucial roles in tumor angiogenesis. Anti-angiogenesis therapy using multi-angiokinase inhibitor has achieved great success in recent years. In this study, we presented the design, synthesis, target identification, molecular mechanism, pharmacodynamics (PD) and pharmacokinetics (PK) research of a novel triple-angiokinase inhibitor WXFL-152. WXFL-152, identified from a series of 4-oxyquinoline derivatives based on a structure-activity relationship study, inhibited the proliferation of vascular endothelial cells (ECs) and pericytes by blocking the angiokinase signals VEGF/VEGFR2, FGF/FGFRs and PDGF/PDGFR simultaneously . Significant anticancer effects of WXFL-152 were confirmed in multiple preclinical tumor xenograft models, including a patient-derived tumor xenograft (PDX) model. Pharmacokinetic studies of WXFL-152 demonstrated high favourable bioavailability with single-dose and continuous multi-dose by oral administration in rats and beagles. In conclusion, WXFL-152, which is currently in phase Ib clinical trials, is a novel and effective triple-angiokinase inhibitor with clear PD and PK in tumor therapy.

Objective To explore the advantages and security of orthopaedic TiRobot used to assist internal fixation with sacroiliac lag screws.Methods From December 2015 to August 2017,11 patients with fracture of pelvic posterior ring or sacroiliac separation were treated by internal fixation with sacroiliac lag screws assisted by an orthopaedic TiRobot at Department of Orthopaedic Surgery,Affiliated Hospital to Chengdu University.They were 7 men and 4 women,aged from 23 to 61 years (average,42.5 years).According to AO classification,there were one case of type B1.2,one case of type B2.2,6 cases of type C1.2,2 cases of type C1.3 and one case of type C2.3.The number of sacroiliac lag screws inserted,time for planning insertion approaches,fluoroscopy frequency,fluoroscopy time,exposure time of C-arm X-ray,operation time,blood loss and reduction quality were documented.Results The 11 patients were followed up for 5 to 22 months (average,9.5 months).A total of 15 sacroiliac screws were inserted.In the operations,time for planning insertion approaches averaged 8.5 minutes (from 9 to 25 minutes),fluoroscopy frequency 8.5 times (from 4 to 15 times),fluoroscopy time 5.5 minutes (from 3.2 to 6.5 minutes),exposure time of C-arm X-ray machine 5.8 seconds (from 2.4 to 16.3 seconds),operation time 34.5 minutes (from 25 to 45 minutes),and blood loss 35 mL (from 10 to 80 mL).All the screw positions were satisfactory,with no penetration into the sacral canal,sacral foramen or bone cortex.No postoperative neurovascular injury happened.All the incisions primarily healed.All the fractures united well after 4 to 7 months (average,5.6 months),without any screw loosening.By the Matta scoring for fracture reduction,9 cases were excellent,one was good and one fair.By the Majeed functional scoring for pelvic fractures,8 cases were rated as excellent and 3 as good at the last follow-up.Conclusion Orthopaedic TiRobots can be used to assist internal fixation with sacroiliac lag screws in the treatment of pelvic posterior ring injuries,with advantages of limited invasion,time,hemorrhage,and high safety and accuracy as well.

Objective To explore the nursing measures in blue laser endoscopy. Methods Endoscopy was performed in 102 patients. The nursing was done including preoperative preparation, nurse's coordination for different mode of endoscpy, postoperative nursing and so on. Result The endoscopy for the 102 patients was successfully done,the time ranging between 10~25 min,averaged 13.85 min.No complications were found. Conclusion The nursing measures including careful preoperative preparation,intraoperative cooperation and postoperative nursing are key to the successful detection and diagnosis of diseases by blue laser endoscopy.

Objective To compare intramedullary nail (IN) and dynamic hip screw (DHS) regarding their effects on hip abduction following fixation of intertrochanteric fractures.Methods From January 2008 to December 2015,310 patients with intertrochanteric firacture were treated at our department.They were divided into 2 groups depending on the manner of treatment.198 patients (71 males and 127 females) were subjected to intramedullary nailing,with an average age of 74.7 ± 5.6 years;there were 50 cases of 31-A 1,134 ones of 3 1-A2 and 14 ones of 3 1-A3 according to the AO classification.112 patients (35 males and 77 females) were subjected to dynamic hip screwing,with an average age of 74.1 ± 6.7 years;there were 24 cases of 31-A1,78 ones of 31-A2 and 10 ones of 31-A3.The 2 groups were compared in terms of time for weight-bearing ambulation and stand on one leg,gait,pelvic tilt,range of hip active abduction,muscle strength of the abductor and hip function at the final follow-up.Results Of this series,284 patients were followed up for 1.5 to 8.5 years (average,3.6 years) and 26 patients died.The IN group achieved significantly better outcomes in terms of time for weight-bearing ambulation (37.6 ±4.9 d),time for stand on one leg (60.1 ± 9.5 d),cases of normal gait and normal pelvic tilt (171 and 179),muscle strength of the abductor (62.3 ±4.4 N · m),and range of hip active abduction than the DHS group (53.0 ±8.4 d;71.0 ± 12.0 d;67 and 85;56.6 ± 3.3 N · m,respectively) (P ＜ 0.05).There was no significant difference between the 2 groups in the hip function at the final follow-up(91.4％ versus 84.5％ in the excellent and good rate)(P ＞ 0.05).Conclusion Compared with dynamic hip screwing,intramedullary nailing has a limited effect on hip abduction so that the patients may benefit from quicker functional recovery and faster improvement in quality of life.

Objective To observe the effect of digital acupressure plus mechanical sputum expectoration on the rehabilitation of patients with stroke-associated pneumonia. Method Forty-six patients with stroke-associated pneumonia were randomized into a treatment group of 22 cases and a control group of 24 cases. The treatment group was intervened by digital acupressure plus mechanical sputum expectoration, while the control group was by mechanical sputum expectoration alone. The simplified version of Clinical Pulmonary Infection Score (CPIS), Fugl-Meyer assessment scale, and modified Barthel Index (BI) were adopted for evaluation before and after intervention. Result After treatment, CPIS, Fugl-Meyer and BI scores were changed significantly in both groups (P<0.01). There were significant differences in comparing the CPIS, Fugl-Meyer and BI scores between the two groups after intervention (P<0.05). After intervention, the two groups showed a negative correlation between CPIS score and Fugl-Meyer score, as well as between CPIS score and BI score. Conclusion Digital acupressure plus mechanical sputum expectoration can effectively improve the pulmonary symptoms in patients with stroke-associated pneumonia, benefiting the rehabilitation of the post-stroke patients.

Objective To explore the operative methods and indications of duodenoscopic papillotomy during the course of operation(IEPT)for cholelithiasis.Methods Cholecystectomy was firstly conducted under the condition of laparoscopy or open laparotomy.For the gross choledochus,the common bile duct was cut open to clear the stones.The ureteric catheter and zebra guidewire were inserted into the common bile duct and duodenum.Then they were inserted via duodenoscopy into thepapillum of duodenum.The papillary stenosis was removed with electro-knife by pin-head-like and arch-like to track along the ureteric catheter and zebra guidewire.For the tiny choledochus,the ureterie catheter and zebra guidewire were inserted via the cholecystic duct remnant into the common bile duct and duodenum.Then they were inserted via duodenoscopy to perform papillotomy to clear the stones of the common bile duct with the reticulation and the balloon of duodenoscopy.Results Forthe gross choledochus,IEPT in laparoscopy was successful in 45 cases and the other 2 received other operation.IEPT in open laparotomy was successful in 5 cases.For the tiny choledochus,IEPT in laparoscopy was successful in 73 cases and the other 1 underwent other operation.IEPT in open laparotomy was successfulin 2 cases.Conclusion If patients are suitable,IEPT is safe and effective in the hands of skilled endoscopiests for laparoscopy and open laparotomy.