Objective:To determine the diagnosis of microtia-associated syndrome through genetic testing.Methods:Peripheral venous blood samples were collected from members of a two-generation family with a syndrome associated with ear malformations (3 patients and 1 normal control). Pathogenic mutations were identified using whole exome sequencing analysis, Sanger sequencing validation, and bioinformatics analysis. Based on the genetic diagnosis and a review of the literatures, the patients′ clinical phenotypes were thoroughly evaluated to confirm the clinical diagnosis.Results:All three patients carried a novel heterozygous insertion mutation (c.1171_1172insGGCC: p.Pro391fs) in the paired box 1 ( PAX1) gene. This mutation showed genotype-phenotype co-segregation within the family and was predicted to be pathogenic. Consequently, the family was diagnosed with autosomal dominant otofaciocervical syndrome 2. The clinical phenotypes of the patients included not only ear malformations and conductive hearing loss but also branchial cleft fistula, preauricular fistula, bilateral facial asymmetry, spinal deformities, and short stature, which were major symptoms of otofaciocervical syndrome 2. Imaging also revealed previously unreported phenotypes, including parotid gland malformation and facial nerve dysplasia. Conclusion:The heterozygous insertion in PAX1 (c.1171_1172insGGCC: p.Pro391fs) found in this family causes otomandibular-cervical syndrome type 2 in an autosomal dominant manner, leading to congenital anomalies affecting external and middle ear, craniofacial region, and spine.

Objective To explore the expression changes of IGF-1 and IGFBP-3 in childhood obesity and their diagnostic value.Methods Blood samples and corresponding clinical information were collected from patients attending Kunming Children's Hospital from December 2023 and March 2024,and were divided into a control group(healthy children;n=115)and a study group(obese children;n=86).Serum levels of IGF-1 and IGFBP-3 in both groups were measured by using ELISA.Clinical data from both groups were analyzed to assess the correlation between IGF-1 and IGFBP-3 and clinical information,as well as their diagnostic value in childhood obesity.Results Compared to the control group,the study group exhibited a significant increase in weight and BMI(P<0.001)while IGF-1 and IGFBP-3 levels were significantly lower(P<0.05).IGF-1 levels exhibited a negative correlation with total cholesterol,triglycerides,apolipoprotein B,and insulin resistance index(P<0.05),and a positive correlation with apolipoprotein A and fasting insulin(P<0.05);IGFBP-3 displayed the opposite pattern(P<0.05).ROC diagnostic curves indicated that the area under the curve for IGF-1 and IGFBP-3 was 0.598 and 0.665,respectively.Conclusion IGF-1 and IGFBP-3 are expressed at low levels in childhood obesity and are associated with obesity indicators,demonstrating certain diagnostic value.

Objective:To determine the diagnosis of microtia-associated syndrome through genetic testing.Methods:Peripheral venous blood samples were collected from members of a two-generation family with a syndrome associated with ear malformations (3 patients and 1 normal control). Pathogenic mutations were identified using whole exome sequencing analysis, Sanger sequencing validation, and bioinformatics analysis. Based on the genetic diagnosis and a review of the literatures, the patients′ clinical phenotypes were thoroughly evaluated to confirm the clinical diagnosis.Results:All three patients carried a novel heterozygous insertion mutation (c.1171_1172insGGCC: p.Pro391fs) in the paired box 1 ( PAX1) gene. This mutation showed genotype-phenotype co-segregation within the family and was predicted to be pathogenic. Consequently, the family was diagnosed with autosomal dominant otofaciocervical syndrome 2. The clinical phenotypes of the patients included not only ear malformations and conductive hearing loss but also branchial cleft fistula, preauricular fistula, bilateral facial asymmetry, spinal deformities, and short stature, which were major symptoms of otofaciocervical syndrome 2. Imaging also revealed previously unreported phenotypes, including parotid gland malformation and facial nerve dysplasia. Conclusion:The heterozygous insertion in PAX1 (c.1171_1172insGGCC: p.Pro391fs) found in this family causes otomandibular-cervical syndrome type 2 in an autosomal dominant manner, leading to congenital anomalies affecting external and middle ear, craniofacial region, and spine.

Objective To observe the impact of impaired mitral annular motor on atrial functional mitral regurgitation(AFMR)in patients with persistent atrial fibrillation(AF).Methods Forty-four persistent AF patients who would undergo radiofrequency ablation(RFA)were prospectively enrolled.Two-dimensional transthoracic echocardiography and real-time three-dimensional transesophageal echocardiography(RT-3D TEE)parameters obtained 1 day before RFA and 3 months after RFA were compared.AFMR was assessed according to effective regurgitant orifice area(EROA),and the change rates of overall annular area(AA)and presystolic AA were evaluated.The difference of EROA before and after RFA was used to describe the improvement degree of AFMR,which was used as the dependent variable,and the related ultrasonic factors 1 day before RFA that affected the improvement degree of AFMR 3 months after RFA were screened.Results Compared with those before RFA,the left atrium global longitudinal strain and left ventricular ejection fraction increased,while the left atrial diameter,left atrial volume,EROA,anteroposterior diameter of valve ring,annular circumference of valve ring,AA,valve leaflet area and non-planar angle decreased,and both the overall AA change rate and presystolic AA change rate increased(all P＜0.05).The change rate of presystolic AA before RFA was an independent impact factor of the improvement degree of AFMR in persistent AF patients 3 months after RFA(P＜0.05).Conclusion Impaired mitral annular motor in persistent AF patients mainly manifested as decreased mitral annular motor function in presystolic period,which impacted the degree of AFMR.

Objective:To study the effect of left atrioventricular interphase (LAVI) via esophageal electrocardiogram on cardiac function after dual-chamber pacemaker implantation in patients with high-degree atrioventricular block.Methods:Using a prospective approach, 40 patients with high-degree atrioventricular block who would undergo dual-chamber pacemaker implantation from January 2017 to March 2018 in Department of Cardiovascular Medicine, Dalian Municipal Central Hospital Affiliated of Dalian Medical University were enrolled. All patients accepted esophageal electrocardiogram tests at 3 months after the implantation, to exam the interatrial conduction time (IACT) of sinus rhythm and pacing rhythm, and interventricular conduction time (IVCT). Then based on the outcome of the echocardiography test, the optimal atrioventricular delay (AVD) of the pacemaker of each patient was determined while the LAVI differed from 100 ms to 150 ms. The left ventricular ejection fraction (LVEF), peak speed of blood flow velocity in early mitral orifice diastole (E), E peak deceleration time (EDT), peak speed of early mitral annular diastolic movement (e′), isovolumic relaxation time (IVRT) and left atrial volume (LAV) were tested by echocardiogram before implantation, before AVD adjustment at 3 months after implantation, after AVD adjustment at 3 months after implantation, and 6, 12, and 18 months after implantation. Then, the left atrial volume index (LAV/body surface area) and E/e′ were calculated.Results:Among the 40 patients, the IACT of sinus rhythm was (55.55 ± 10.33) ms, the IACT of pacing rhythm was (93.95 ± 12.77) ms, and the mean IVCT was (63.20 ± 17.84) ms; the optimal LAVI was 110 to 150 (132.00 ± 10.43) ms, and notably, the optimal LAVI between 120 and 140 ms was 82.5% (33/40). The LVEF, EDT, IVRT, left atrial volume index and E/e′ from before AVD adjustment of 3 months after implantation to follow-up endpoint (18 months after implantation) were significantly improved compared with those before implantation, and there were statistical differences ( P<0.01); the EDT and IVRT after AVD adjustment at 3 months after implantation were significantly improved than those before AVD adjustment at 3 months after implantation: (142.15 ± 35.58) ms vs. (125.94 ± 31.13) ms and (119.52 ± 22.15) ms vs. (133.92 ± 23.87) ms, and there were statistical differences ( P<0.05); the IVRT and left atrial volume index 18 months after implantation were significantly improved compared with those before AVD adjustment at 3 months after implantation: (122.07 ± 16.99) ms vs. (133.92 ± 23.87) and 32.94 ± 3.22 vs. 35.43 ± 5.76, and there were statistical differences ( P<0.05). Conclusions:Optimizing the LAVI after dual-chamber pacemaker implantation via esophageal electrocardiogram can improve the long-term prognosis of patients with high-degree atrioventricular block.

Objective To investigate the prevalence and correlates of depression in residents aged 15 and older in Hainan province.Methods Stratified multistage random sampling methods were utilized to identify 12 117 individuals (≥15 years old) from 59 villages (neighborhoods) in 24 towns (streets) within 6 counties (cities) in Hainan Province from September 2010 to November 2011.The subjects were screened with an expanded version of the General Health Questionnaire (GHQ-12) and the respondents were divided into three groups by high risk,moderate risk and low risk of mental disorder,followed by formal diagnosis according to the Structured Clinical Interview for DSM-IV-TR (SCID-I/P) by psychiatrists among 100％ subjects in group with high risk,40％ subjects in group with moderate risk and 10％ subjects in group with low risk.The adjusted rate,standardized rate,and 95％ confidence interval (95％CI) of the one-month and lifetime prevalence were also calculated among the 3 groups of individuals who were diagnosed with depressive disorder.The difference in whether they suffered depression was determined by the chi-squared test.Correlations to depressive disorder and the odds ratio (OR) were explored with multiple regression analysis.Results There were 97 cases of depressive disorders (1-month) and 166 cases of lifetime depressive disorders finally confirmed.The adjusted rate of 1-month prevalence was 1.38％ (95％CI:1.12-1.59) and the life-time adjusted prevalence rate was 2.80％ (95％CI:2.51-3.09).Female (OR=1.55,95％CI:1.12-2.14),mid-age(50-64 y,OR=1.84,95％CI:1.13-2.99),being divorced or living separated (OR=4.87,95％CI:1.86-12.73),suffering chronic diseases (OR=2.19,95％CI:1.56-3.07),and low family income were significantly associated with suffering depressive disorder.Conclusions The prevalence of the depressive disorder among residents aged 15 and older in Hainan province is lower than the nationwide prevalence.People who are female,mid-age,being divorced or not living with the partner,earning a low income,and suffering chronic diseases have more predisposition to develop the depressive disorder in Hainan province.

Objective To investigate the prevalence and correlates of depression in residents aged 15 and older in Hainan province.Methods Stratified multistage random sampling methods were utilized to identify 12 117 individuals (≥15 years old) from 59 villages (neighborhoods) in 24 towns (streets) within 6 counties (cities) in Hainan Province from September 2010 to November 2011.The subjects were screened with an expanded version of the General Health Questionnaire (GHQ-12) and the respondents were divided into three groups by high risk,moderate risk and low risk of mental disorder,followed by formal diagnosis according to the Structured Clinical Interview for DSM-IV-TR (SCID-I/P) by psychiatrists among 100％ subjects in group with high risk,40％ subjects in group with moderate risk and 10％ subjects in group with low risk.The adjusted rate,standardized rate,and 95％ confidence interval (95％CI) of the one-month and lifetime prevalence were also calculated among the 3 groups of individuals who were diagnosed with depressive disorder.The difference in whether they suffered depression was determined by the chi-squared test.Correlations to depressive disorder and the odds ratio (OR) were explored with multiple regression analysis.Results There were 97 cases of depressive disorders (1-month) and 166 cases of lifetime depressive disorders finally confirmed.The adjusted rate of 1-month prevalence was 1.38％ (95％CI:1.12-1.59) and the life-time adjusted prevalence rate was 2.80％ (95％CI:2.51-3.09).Female (OR=1.55,95％CI:1.12-2.14),mid-age(50-64 y,OR=1.84,95％CI:1.13-2.99),being divorced or living separated (OR=4.87,95％CI:1.86-12.73),suffering chronic diseases (OR=2.19,95％CI:1.56-3.07),and low family income were significantly associated with suffering depressive disorder.Conclusions The prevalence of the depressive disorder among residents aged 15 and older in Hainan province is lower than the nationwide prevalence.People who are female,mid-age,being divorced or not living with the partner,earning a low income,and suffering chronic diseases have more predisposition to develop the depressive disorder in Hainan province.

Objective]To evaluate the value of three-dimensional transesophageal echocardiography(3D-TEE)in the applica?tion of percutaneous left atrial appendage occlusionin patients with atrial fibrillation.[Methods]7 patients with atrial fibrillation in Da?lian area(female 4,male 3,mean age 71.5 ± 3.3 years)were enrolled in the study.The maximum and minimum diameter and the max?imum depth ofleft atrial appendage were measured by 3D-TEE,and export morphology and leaf number were viewed.WATCHMAN occlude size was selectedby 3D-TEE. The process of operation was monitored by 3D-TEE. 3D-TEE was also performed in 3 months after the transcatheter closure.[Results]7 patients were performed the transcatheter closure therapy successfully. Preoperative 3D-TEE showed left atrial appendage export:5 cases were oval,and 2 cases were nearly circular. The leaf number was 1.6 ± 0.8. The maximum diameter of the left atrial appendage export was(23.1 ± 1.7)mm,(19.2 ± 2.1)mm minimum diameter,maximum depth of(27.6 ± 3.3)mm. The maximum diameter had good correlation with the size of occluder(r=0.944,P=0.001). 3D-TEE was used for guidance in the transcatheter therapy and succeeded. There were 1 case with little shunt after the transcatheter closure. 3 months af?ter the treatment ,position and shape of the occluderswere all in good.[Conclusion]3D-TEE has the great value in the percutaneous closure of left atrial appendage.

Objective To probe into the application of left atrial volume tracking technique(LAVT)on the evaluation of right atrial function in patients with pulmonary hypertension.Methods Forty-one patients with pulmonary hypertension (pulmonary hypertension group) and 37 control subjects (control group) were involved.Right atrial maximal volume (RAVmax),right atrial presystolic volume(RAVpre),right atrial minimal volume (RAVmax),systolic right atrial filling rate (dv/dtS),early diastolic right atrial emptying rate(dv/dtE) and late diastolic right atrial emptying rate(dv/dtA) was derived by LAVT.Right atrial passive emptying volume (RAVp),right atrial passive emptying fraction (RAVpEF),right atrial active emptying volume (RAVa),right atrial active emptying fraction (RAVaEF),right atrial total emptying volume (RAVt)and right atrial total emptying fraction (RAVtEF) was calculated.All the right atrial volume parameter was corrected by body surface area to obtain right atrial volume index (RAVI).Results RAVImax,RAVImin,RAVIpre,RAVIt,RAVIa,dv/dtS and dv/dtA in pulmonary hypertension group was higher than that in control group [(78.39 ± 49.35) ml/m2 vs.(24.80 ± 11.91) ml/m2,(62.59 ± 46.56) ml/m2vs.(17.46 ± 8.40)ml/m2,(70.12 ± 48.03) ml/m2 vs.(20.02 ± 9.46) ml/m2,(18.77 ± 11.47) ml/m2 vs.(9.35 ± 6.74) ml/m2,(8.53 ± 9.81) ml/m2 vs.(3.25 ± 3.00) ml/m2,(145.85 ± 80.56) ml/s vs.(86.44 ± 48.46) ml/s,(155.63 ±126.47) ml/s vs.(67.74 ± 33.27) ml/s],and RAVIp in pulmonary hypertension group was lower than that in control group [(6.09 ± 5.16) ml/m2 vs.(10.23 ± 11.12) ml/m2],and there were significant differences (P ＜0.05).But there were no significant differences in RAVItEF,RAVIpEF,RAVIaEF and dv/dtE between two groups (P＞0.05).Conclusions In patients with pulmonary hypertension,right atrial booster pump function and reservoir function increases,while right atrial conduit function decreases.LAVT has a potential ability to evaluate right atrial function.

OBJECTIVE:To study a simple method for the isolation and purification of thrombin-like enzyme (TLE) from the venom of Agkistrodon halys Pallas. METHODS:DEAE-Sephadex A-25 vs. Sephadex G-25 chromatography in the isolation and purification of TLE from the venom of Agkistrodon halys Pallas was analyzed. RESULTS:TLE was isolated from the venom of Agkistrodon halys Pallas. SDS-PAGE electrophoresis appeared as a strap with its molecular weight at about 35.5 kDa, meeting electrophoresis purity standard. Physical-chemical character assay showed that the TLE has hemostasia activity in vitro with its specific activity at about 12.57IU?mg-1, while the arginine esterase activity was about 137.65IU?mg-1 measured by BAEE method. PMSF and EDTA were used in the inhibition experiment on this enzyme, and the enzyme was proved to be serine protease other than metalloproteinase. CONCLUSION:The methods can be used for the isolation and purification of thrombin-like enzyme (TLE) from the venom of Agkistrodon halys Pallas.