Objective:To detect pathogenic mutation in a Chinese family affected with isolated bilateral microtia.Methods:During 2022 June to December, one Chinese Han family with non-syndromic bilateral microtia was recruited at the First Hospital of Shanxi Medical University. The clinical data and peripheral blood samples were collected from the family members. Whole genome sequencing (WGS) was performed in the proband to screen all candidate variants. Quantitative PCR was applied to identify the candidate copy number variation (CNV) among the proband, the unaffected wife and the affected son to demonstrate the association between candidate variant and phenotype.Results:The patients in the family had non-syndromic bilateral concha-type microtia. WGS detected the duplication in the intergenic region of HMX1 and CPZ gene in the proband, which involved the evolutionarily conserved region (ECR). Both the proband and his affected son carried the CNV, while his unaffected wife did not have this variation.Conclusion:Duplications involving the long range HMX1 enhancer ECR are associated with the bilateral concha-type microtia in this family.

Objective:To detect pathogenic mutation in a Chinese family affected with isolated bilateral microtia.Methods:During 2022 June to December, one Chinese Han family with non-syndromic bilateral microtia was recruited at the First Hospital of Shanxi Medical University. The clinical data and peripheral blood samples were collected from the family members. Whole genome sequencing (WGS) was performed in the proband to screen all candidate variants. Quantitative PCR was applied to identify the candidate copy number variation (CNV) among the proband, the unaffected wife and the affected son to demonstrate the association between candidate variant and phenotype.Results:The patients in the family had non-syndromic bilateral concha-type microtia. WGS detected the duplication in the intergenic region of HMX1 and CPZ gene in the proband, which involved the evolutionarily conserved region (ECR). Both the proband and his affected son carried the CNV, while his unaffected wife did not have this variation.Conclusion:Duplications involving the long range HMX1 enhancer ECR are associated with the bilateral concha-type microtia in this family.

Objective To discuss the risk factors for susceptibility of subcutaneous tophi with an aim to provide clinical evidence for the prevention and treatment of tophi.Methods A total of 5 321 cases of gout patients whose course of disease was less than 10 years were selected and divided into two groups according to whether a subcutaneous tophus was present. The clinical information was collected and relevant biochemical indices were detected.Results There were significant differences in the ratios of regular exercise, involvement of upper limb joints, combining renal insufficiency, kidney stone and coronary heart disease between the tophus group and the non-tophus group(P<0.05 or P<0.01). There were significant statistical differences in age, disease duration, body mass index, systolic blood pressure, diastolic blood pressure, serum uric acid, serum creatinine, creatinine clearance rate, the number of joints involved between the two groups[(51.80±14.58 vs 48.45±14.45)year,(5.61±3.20 vs 3.28±3.06)year,(26.50±3.39 vs 27.05±3.45)kg/m2,(138±20 vs 133±18)mmHg, 1 mmHg=0.133 kPa,(89±13 vs 87±12)mmHg,(486.66±121.96 vs 460.02±119.10) μmol/L,(112.11±62.97 vs 104.43±46.28) μmol/L, (86.46±37.99 vs 93.00±40.11 )ml/min,(2.89±1.86 vs 1.76±1.22) joints, all P<0.01]. There were no statistical differences in family history, gender, history of smoking and drinking, the means of waistline, fasting blood glucose, triglyceride, and total cholesterol between the two groups(all P>0.05). Further logistic regression analysis indicated that disease duration, a large number of joints involved, the involvement of upper limb joints, combining kidney stones, higher serum uric acid level, and higher diastolic pressure were risk factors of the early onset of subcutaneous tophi, while regular exercise and body mass index were protective factors.Conclusion Patients with long duration, high serum level of uric acid, a large number of joints involved, upper limb joint involved, kidney stones, and hypertension were more likely to develop subcutaneous tophi. These risk factors should be intervened actively in clinic.

OBJECTIVE: To investigate the effects of combined inhibition of signal transducer and activator of transcription 3 (STAT3) and hypoxia-inducible factor-1α (HIF-1α) in the enhancement of chemosensitivity of the model of human laryngeal squamous cacinoma in nude mice. METHOD: Model nude mice were divided into six groups randomly: control group(A) , cisplatin group(B) , cisplatin and AG490 group(C) , cisplatin and HIF-1α⁻/⁻ group (D), cisplatin combined AG490 and HIF-1α⁻/⁻ group (E), HIF-1α⁻/⁻ group (F) (only in calculating tumor inhibition rate). 3mg/kg cisplatin was administered by peritoneal injection for 3 days. Then cisplatin and 10 mg/kg AG490 were administered every other day for 12 days. The expression of Ki67 and HIF-1α was detected by immunocytochemical method. Western blot was used to detect the expression of p-STAT3. RESULT: The expression of HIF-1α in group C and group D were lower than that in group B, and there were significant difference respectively (t₁ = 2.782, t₂ = 3.873, P < 0.05); The expression of HIF-1α in group E was lower than that in group C and group D respectively, and there were significant difference respectively (t₁ = 6.140, t₂ = 3.667, P < 0.01). The expression level of p-STAT3 in group C was markedly lower compared with that in group B, and there were significant difference between them (t = 17.840, P < 0.01); There were no difference between the expression level of p-STAT3 in group D and that in group B (t = 0.038, P > 0.05); The expression level of p-STAT3 in group E was significantly lower compared with that in group C and group D respectively (P < 0.01). Tumor inhibition rate of group E was higher than that in group B, group C , as well as group D respectively and there were significant difference respectively (t₁ = 5.509, P < 0.01; t₂ = 3.422, P < 0.05; t₃ = 2.718, P < 0.05 ). Ki67 index of group E was lower than that in group B, group C as well as group D respectively and there were significant difference respectively(t₁ = 8.307, P < 0.01; t₂ = 3.736, P < 0.05; t₃ = 4.524, P < 0.01). CONCLUSION Combined inhibition of STAT3 and HIF-1α could enhance chemo-sensitivity in the model of human laryngeal squamous cacinoma in nude mice.
Animals ; Antineoplastic Agents ; pharmacology ; Carcinoma, Squamous Cell ; drug therapy ; metabolism ; Cisplatin ; pharmacology ; Drug Resistance, Neoplasm ; Hypoxia-Inducible Factor 1, alpha Subunit ; genetics ; metabolism ; Ki-67 Antigen ; metabolism ; Laryngeal Neoplasms ; drug therapy ; metabolism ; Mice ; Mice, Nude ; Neoplasms, Experimental ; drug therapy ; metabolism ; STAT3 Transcription Factor ; genetics ; metabolism ; Tyrphostins ; pharmacology

Objective To improve the accuracy and completion rate of long range video electroencephalogram ( V-EEG) in children with epilepsy, strengthen the pediatric patients′coordination ability during V-EEG, and make the parents more satisfied. Methods Pediatric patients who were checked by long-range V-EEG from April 2014 to March 2015 were chronologically divided into experimental group ( n=169 ) and control group ( n =142 ) . The patients of experimental group were cared by unified nursing intervention while the patients of control group were implemented traditional nursing. Contrast was implemented between two groups according to leads and electrode off, sleep deprivation situation, completion of provocation test, rash and trauma. Results After the implementation of V-EEG monitoring nursing regulations, the incidences of leads off, artifact, failure of sleep deprivation, and trauma were lower than those of the control group (P<0. 05); the cooperation of children having hyperventilation increased in the experimental group with low failure rate of opening and closing eyes stimulation and flush stimulation (P<0. 05). The parent′s satisfaction increased from 78.87% to 94.08% (P <0. 01). Conclusions Standardized nursing can effectively improve the quality of V-EEG monitoring, decline the incidence of artifact, make the V-EEG report more accurate and completed, and promote parent′s satisfaction.

Objective To explore the effects of nursing practice which based on Omaha system in follow-up of children with severe viral encephalitis ( SVE ) . Methods A total of 42 SVE children who were discharged from January to December 2015 were selected and assigned to the control group ( n=21 ) and the observation group ( n=21 ) randomly. Patients in the control group received routine discharge plan, while patients in the observation group were given comprehensive nursing evaluation, systematic analysis and nursing intervention based on Omaha system. PedsQLTM 4. 0 score of patients in two groups were compared before intervention and 1 month after intervention. Results One month after intervention, in the observation group, there were 6 cases of mental health among all cases with nursing problems, 3 cases of nerve-muscle-bone, 5 cases of sleep and rest and 2 cases of health care supervision, and the incidence rate of problems was significantly different from the data before intervention (χ2 = 14. 000, 18. 709, 4. 842, 16. 701;P<0. 05 );PedsQLTM4.0 score in the observation group after intervention was (65.35±15.47), and the score in the control group was (60.95±12.01) (t=2.410,P<0.05).Conclusions Nursing practice based on Omaha system reflects the common nursing problems and interventions of SVE children before intervention and after intervention, which can improve the quality of life of SVE children and be worth popularizing in clinical work.

Objective To explore the development, characteristic, developmental direction and influencing factors of hand-foot-mouth disease in 10 years. Methods We summarized 10 years overt published literature review of journal, and classified statistic literature review amount, nursing intervention types and the frequencies of nursing intervention mode by frequency table. Results A total of 544 references met the requirements, involving a total of 51 kinds of nursing interventions. Total frequencies of interventions presented 3 225 times including the top ten ways accounted for 85. 24% of all interventions: oral care (12. 00% ), disinfection and isolation (11. 37% ), skin care (10. 67% ), fever Care (10. 23% ), disease observation (10. 11% ), diet care (9. 64% ), psychological care (8. 49% ), health education (6. 54% ), encephalitis care (3. 13% ), intubation care (3. 06% ). Conclusions The trends of hand-foot-mouth disease affects nursing research. Although routine care interventions always plays an important role, nursing intervention studies showed a diversified development in critically ill patients when we deepens study of nursing interventions.

Objective To investigate and improve clinical treatment and care methods of convulsions in postoperative children with congenital heart disease.Methods One postoperative child suffered from convulsions with congenital heart disease in our hospital PICU in August 2013 was reviewed,and then related clinical monitoring treatment methods were summarized.Results The patient suffered three times of convulsions and after drug treatment and careful nursing,the symptoms were under control without critical condition.Then the patient was safely and stably transited into the general ward and discharged.Conclusions There are three essential points for nursing convulsions in postoperative child with congenital heart disease:strengthen monitoring after heart surgery,handle symptom of seizures in time; rapidly make sure the reasons of convulsions and make effective preventions.

Objective To investigate the influence of pertussis toxin(PTX)on G protein-coupled estrogen receptor(GPER)-mediated activation of phosphatidylinositol 3-kinase(PI3K)/protein kinase B (Akt)signaling activated by 17 β-estradiol(17β-E2)in endometrial carcinoma cells.Methods Expressions of GPER protein were detected by immunohistochemical SP method in Ishikawa and HEC-1A cells.Changes of levels of GPER,ERα and ERβ protein and the activation of Akt protein were observed by western blot in the two cells after they were treated by PTX for 30 minutes at different concentrations(0,0.1,0.5,1.0 μg/ml),and then co-stimulated with with 1 × 10-6 mol/L 17β-E2 respectively at different time (Ishikawa 30 minutes,HEC-1A 15 minutes).Results(1)Immunohistochemical SP method showed that GPER was positive stained in cell cytoplasm of Ishikawa and HEC-1A cell.(2)After co-treated with PTX at different concentrations(0,O.1,0.5,1.0 μg/ml)and 10-6 mol/L 17β-E2,in Ishikawa cell,the ratio of pAkt/Akt was 0.74 ±0.54,0.34 ±0.06,0.18 ±0.03,0.07 ±0.15,the gray values of GPER was 0.872 ± 0.490,0.395 ± 0.054,0.145 ± 0.014,0.034 ± 0.008,and with increasing concentration of PTX,the ratio of p-Akt/Akt and the expression of GPER decreased gradually(P ＜ 0.05),which was most obviously when the concentration was 1.0 μg/ml(F =63.729,P =0.0001;F =160.284,P =0.0001);ERα and ERβ protein had no significant change among different groups(P ＞0.05).In HEC-1A cell,the ratio of pAkt/Akt was 0.73 ±0.09,0.26 ±0.14,0.11 ±0.03,0,the Gray values of GPER is 0.927 ±0.134,0.485 ± 0.022,0.194 ± 0.004,0,and with increasing concentration of PTX,the ratio of p-Akt/Akt and the expression of GPER decreased gradually(P ＜ 0.05),which were also completely inhibited when the concentration was 1 μg/ml(F =1039.321,P =0.0001;F =109.646,P =0.0001),ERα protein had no significant differences(P ＞ 0.05)among different groups.ERβ was negatively expressed.Conclusion The results proposed that the activation of PI3K/Akt signaling in Ishikawa and HEC-1A cells could be inhibited after blocking the role of GPER by PTX.

Objective To research expression changes of COX-2 gene in Barrett′s esophageal mucosa before and after argon plasma coagulation (APC)operation and to explore it′s clinical curative effect and possible mechanism .Methods 66 barrett′s e-sophageal diagnosed with gastroscope and pathology were randomly divided into normal esophageal group (the negative control group ,group A) ,the APC with acid suppression therapy group(group B) ,Acid antimicrobial drug treatment group(group C) .Ob-serve symptom relief condition ,barrett esophagus epithelium ablation under gastroscope before and after treatment ,esophageal mu-cosa tissue samples was detected by real-time fluorescent quantitative PCR technique .Expression of COX-2 gene in barrett′s esoph-ageal mucosa were compared among groups .Results Compared with group A ,both Group B and group C could effectively relieve symptoms (P<0 .05) .Symptom remission rate had no no statistically significant difference in Group B and group C .Barrett esopha-gus epithelium was not significantly narrowed under gastroscope follow-up Group A and group C ,while Barrett esophageal mucosal occurred ablation with pink mucous covered in Group B .The expression of Cox-2 mRNA in group B decreased ,which was similar to group A .The expression of Cox-2 mRNA in group C also decrease ,but there was no significant differences before and after treat-ment .Conclusion APC with acid suppression therapy could effectively relieve symptoms ,melting Barrett esophagus epithelium ,and is of a safe and effective treatment on Barrett′s esophagus .