Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical characteristics and spectrum of SPTB gene variants among 16 Chinese children with Hereditary spherocytosis (HS) and explore their genotype-phenotype correlation.@*METHODS@#Sixteen children who were diagnosed with HS at the Affiliated Hospital of Capital Institute of Pediatrics from November 2018 to July 2022 were selected as the research subjects. Genetic testing was carried out by whole exome sequencing. Candidate variants were verified by Sanger sequencing and subjected to bioinformatic analysis and prediction of 3D structure of the protein. Correlation between the SPTB genotypes and clinical phenotypes was analyzed using Chi-squared test.@*RESULTS@#The male-to-female ratio of the HS patients was 6 : 10, with the median age being 7-year-and-10-month. Clinical features of the patients have included anemia, reticulocytosis and gradual onset of splenomegaly. Mild, moderate and severe anemia have respectively occurred in 56.25% (9/16), 31.25% (5/16) and 12.50% (2/16) of the patients. SPTB gene variants were detected in all patients, among which 10 were unreported previously and 7 were de novo in origin. Loss of function (LOF) variants accounted for 93.75% (15/16). Only one missense variant was detected. Eleven, 4 and 1 of the variants had occurred in the repeat domain, CH1 domain, and dimerization domain, respectively. There was no significant correlation between the type or domain of the SPTB gene variants with the clinical features such as severity of anemia (x² = 3.345, P > 0.05). All of the variants were predicted to be pathogenic or likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics.@*CONCLUSION@#Mild to moderate anemia are predominant clinical features of the HS children harboring a SPTB gene variant, for which LOF variants are the main mutational type. The clinical feature of HS is unaffected by the type of the variants.

Underlying mechanism and preventive measures of distal stent graft-induced new entry after thoracic endovascular aortic repair for Stanford type B aortic dissection / 中华外科杂志

Distal stent graft-induced new entry (dSINE) is the complication with high incidence following thoracic endovascular aortic repair (TEVAR) for Stanford type B aortic dissection. This review the underlying mechanism and preventive measures regarding dSINE. General mechanism include: the fragile state of dissected aortic wall and intimal flap is pathophysiologic foundation of dSINE; the continued resistive force to the deformation of stent-graft is mechanical cause of intimal injury; the intimal flap movement within a cardiac cycle result in local damage accumulation in distal site of stent-graft. Aortic remolding play an important role in prophylaxis of dSINE.

Research on gradual change of ascending aorta diameter / 国际外科学杂志

Objective To study the changes in the diameter of the ascending aorta at different levels.Methods A total of 287 patients were enrolled in this study from November 2016 to January 2017 at the Chinese People's Liberation Army General Hospital in Beijing.Each patient had undergone enhanced computerized tomography scanning,and the systolic and diastolic images were reconstructed for each patient.Ten times distance accounts for percentage was calculated per 10％ unit of ascending aorta.The maximal diameters of each level were measured by 3 mensio Vascular 8.1 software with curved planar reformation.Generalized additive mixed model with smoothing function and threshold saturation effect analysis with generalized estimating equations were used to analysis the changing regularity of ascending aortic diameters and its consistency using stratified analysis.Furthermore,stratified analyses were conducted aauording to sex,age,BMI,smoking status and history of chronic diseases.Results A nonlinear relationship between the maximal diameters and distance was observed.With the increase of distance,the maximal diameters of ascending aorta presented an inverted U shape.In the first half,the ascending aortic maximal diameter increased 1.16 mm while the distance increased ten percent of the ascending aortic length (P ＜ 0.001).In the second half,the ascending aortic maximal diameter reduced 0.47 mm while the distance increased ten percent of the ascending aortic length (P ＜ 0.001).The results showed that the changing regularity of ascending aortic diameter has no significant difference between systolic and diastolic periods.Conclusions With the increase of distance,the maximal diameters of ascending aorta increase and then decrease.The regularity of ascending aortic diameter between systole and diastole is consistent.In each subgroup,the regularity of ascending aortic diameter is not completely consistent,but the difference has not clinical significance.

Aortic lumen diameter changes during systolic and diastolic periods: evaluation with ECG-gated computed tomography / 中华普通外科杂志

Objective To characterize the changes in the dimensions during systolic and diastolic periods in the aorta with ECG-gated multi-detector CTA scans.Methods The CT angiograms of 115 patients (78 males,mean age 55.2 ± 9.4 years;37 females,mean age 60.1 ± 8.5 years) both in systolic and diastolic periods were obtained on a 64-slice ECG-gated multi-detector CT scanner.The diameters were measured at four anatomic levels of the aorta.(Level A:1 mm proximal to the innominate artery;Level B:1 mm distal to the left common carotid artery;Level C:1 mm distal to the left subclavian artery;Level D:10cm distal to the left subclavian artery).On each level,the maximal and the minimal diameters were measured both in systolic and diastolic periods.Results The paired sample t test results showed a significant difference between the systolic and diastolic diameters in all individual subjects on every level (P ＜0.001).The mean maximum diameter changes were 1.95％ (range-2.0％ to 7.0％),2.12％ (range-3.0％ to 6.0％),1.88％(range-1.0％ to 8.0％)and2.47％(range-3.0％ to 10.0％)at level A,B,C and D,respectively.The mean minimum diameter changes were 1.43％ (range-3.0％ to 5.0％),2.67％ (range-2.0％ to 11.0％),1.75％ (range-14.0％ to 9.0％)and 2.99％ (range -2.0％ to 11.0％) at level A,B,C and D,respectively.Conclusions The differences of the aortic diameters between systolic and diastolic periods are significant.The pulsatility of aorta in Chinese population may be different from published Western literature.

Ultrasonographic screening for the infrarenal aorta diameter and common iliac artery diameter of young males in a Chinese school / 中华外科杂志

<p><b>OBJECTIVE</b>To establish the ultrasonographic criteria for normal size of infrarenal aorta (IRA) and common iliac arteries (CIA) of young males in a Chinese school and to determine the associations between IRA diameter (IRAD) and CIA diameter (CIAD) and body habitus as well as traditional cardiovascular risk factors.</p><p><b>METHODS</b>Cross-sectional study was done of 203 Chinese young males enrolled from a technical school in Beijing Changping district from May to June 2013. The IRA and CIA scans were carried out using ultrasonography. Longitudinal scans were used to assess aortic morphology and tortuosity. The maximum internal anteroposterior IRAD and CIAD in any area of the arteries were measured during the cardiac cycle. Participants information on demographic, medical history, smoking history and alcohol consumption was obtained through unified questionnaire. Univariate and multivariate linear regression was used to determine the associations between arterial diameter and body habitus as well as other risk factors.</p><p><b>RESULTS</b>The median participants age was 21.5 (ranging from 18 to 28) years. The IRAD was (13.4±1.9) mm, and the CIAD was (9.4±1.6) mm. There was no significant difference between the left and right CIAD. Waist circumference was significantly associated with increasing IRAD (P=0.03), while alcohol had an inverse correlation (P=0.04). Age, hip circumference were significantly associated with increasing CIAD (P=0.00, 0.04), while the systolic pressure and alcohol had inverse correlations (P=0.01, 0.00). By dividing the entire group into equal four groups using quartile values for both age and waist/hip circumference, the older group and the larger waist/hip circumference had greater arterial diameter.</p><p><b>CONCLUSIONS</b>The enrolled Chinese young males have smaller IRAD and CIAD compared with foreign older population. Age, waist circumference, hip circumference, alcohol and systolic pressure have statistically significance but small effects on arterial diameter.</p>

Comparison of perioperative outcome after endovascular repair between symptomatic and asymptomatic abdominal aortic aneurysm / 中华外科杂志

<p><b>OBJECTIVE</b>To compare the perioperative outcome after endovascular repair (EVAR) of symptomatic abdominal aneurysms (S-AAAs) and elective non-symptomatic AAAs (E-AAAs).</p><p><b>METHODS</b>From January 2008 to February 2013, a total of 230 non-ruptured AAA patients treated by EVAR met the inclusion criteria. S-AAAs were present in 43 (18.7%) patients, 40 patients were male, 3 patients were female, aged (69 ± 10) years and E-AAAs in 187 (81.3%) patients, 162 of which were male, the other 25 patients were female, aged (71 ± 9) years. Patients were followed up at 1 month after EVAR. The primary outcome of the study was perioperative mortality, secondary outcome included procedural data and major perioperative adverse events.</p><p><b>RESULTS</b>At baseline, there were no differences in age, gender, American Society of Anesthesiologists classification score, and basic diseases. S-AAA patients had larger aneurysms on average (6.00 (1.97) cm vs. 5.10 (1.7) cm, Z = 2.51, P = 0.01). S-AAA patients had shorter preoperative hospitalization (5.00 (5.0) days vs. 7.00 (4.0) days, Z = 1.86, P = 0.02). No differences in the perioperative mortality, respectively, 0 and 1.1% (P = 0.66). Technical success and clinical success were all 100% and the other procedure data was similar (P > 0.05). The occurrence of major adverse events, including mortality, within the 30-day after EVAR were similar between S-AAA and E-AAA patients (0 vs. 2.1%, P = 0.43).</p><p><b>CONCLUSIONS</b>There is no difference in perioperative outcome between S-AAA and elective E-AAA patients treated by EVAR. More study is needed to compare the middle and long-outcome between S-AAAs and E-AAAs after EVAR.</p>