1.A one-stop comparative study of CTA scan delay protocol for TAVI/TAVR patients
Rongfei QI ; Zhibin WU ; Xu YANG ; Liusha YANG ; Yingjuan CHANG
Journal of Xi'an Jiaotong University(Medical Sciences) 2024;45(1):155-159
Objective To compare the effect of preoperative CTA examination using group injection test and group injection tracking delay protocol on image quality in patients with transcatheter aortic valve implantation(TAVI)/transcatheter aortic valve replacement(TAVR).Methods A total of 43 patients who underwent TAVI/TAVR preoperative one-stop CTA examination in our hospital were randomly divided into two groups,and preoperative CTA examination was performed using group injection tracking and group injection test.After the scanning was completed,the aortic root sinus(C1),the proximal left and right coronary arteries(C2,C3),the ascending aorta(A1),the abdominal aorta(A2),the left and right femoral arteries(A3,A4),and the CT value and SD value of the paraspinal muscles of the same layer were measured;the signal-to-noise ratio(SNR)and contrast-to-noise ratio(CNR)of the corresponding parts were calculated.The obtained data results were compared and analyzed from both subjective and objective aspects.Results There was no significant difference in image quality between the two groups in the aortic root sinus(C1),the proximal left and right coronary arteries(C2,C3),or the ascending aorta(A1)(P>0.05).At the renal artery level,there was a significant difference in image quality between the abdominal aorta(A2)and the left and right femoral artery levels(A3,A4)(P<0.05).Conclusion In the preoperative one-stop CTA examination of TAVI/TAVR patients,the CTA images below the renal artery level can obtain better image quality than the group injection tracking method.
2.DHX37 gene heterozygous variant—a frequent cause of embryonic testicular regression syndrome
Lili PAN ; Zhe SU ; Yanhua JIAO ; Junjie SUN ; Jianchun YIN ; Hao WANG ; Xianping JIANG ; Shumin FAN ; Hongtao QI ; Rongfei ZHENG ; Yue SHANG
Chinese Journal of Endocrinology and Metabolism 2022;38(4):306-312
Objective:To report embryonic testicular regression syndrome(ETRS) caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods:The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected. The reported cases of DHX37 heterozygous variant were reviewed.Results:Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months. Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy. No uterus was detected by ultrasound in all patients. The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis, complicated with gonadoblastoma in one case. The genetic testing revealed that the heterozygous variant(c.923G>A, p. R308Q) in DHX37 was found in 2 cases, without variant in other 3 cases. According to the review, ETRS and 46, XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019. A total of 40 cases, including 21 cases of ETRS, presented with the virilition or female phenotype, with the disappearance of testicular tissue as the main pathologies. There is no report in China.Conclusion:The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS, among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.