1.Applied Contrast Between CR System and Screen-Film combination in the Hypomastia Mammography
Jianchun KONG ; Haiying HUANG ; Fenlan LOU
Journal of Practical Radiology 1991;0(03):-
Objective To contrast between the advantage and disadvantage of CR system and screen-film combination in the hypomastia mammography. Methods 233 cases underwent high frequency mammography unit made in Itlian, screen-film combiation and CR system made in Japan, in addition, the imaging quality was analyzed. Results The image quality of CR system was better than screen-film combination. The rate of photographing again outstandingly declined. The radiation to patient decreased evidently. Conclusion CR system is better than traditional screen-film combination in the hypomastia mammography.
2.CT Diagnosis of Broad Ligament Leiomyoma
Linling YU ; Jianchun KONG ; Zhimei PAN
Journal of Practical Radiology 1996;0(04):-
Objective To investigate the CT diagnostic value of broad ligament leiomyoma.Methods CT appearances of 21 cases with broad ligament leiomyoma confirmed by operation and pathology were analyzed retrospectively.Results CT showed that the tumors were pelvic and extrauterine masses in all cases,the tumors were solid in 19 cases and was cystic-solid in one case. The tumors had clear border in 16 cases and unclear border in 3 cases. The density of tumor in 6 cases were homogeneous, which was similar to that of myometrium on precontrast scanning. There was obviously uptake on postcontrast enhancement, as in myometrium. In heterogeneous tumors, low density areas of light flakes or streaks were observed, and the density of tumor solid part was somewhat lower than that of the uterus muscles on postcontrast enhancement. The tumors grew near the uterus. The shape of tumors appeared multitudinous, which was multilobular or irregular in 11 cases, flat round in 4 cases, and round or elliptic in 6 cases. Conclusion CT is a useful tool in diagnosis of the broad ligament leiomyoma.
3.Analysis and clinical application of preimplantation genetic testing for monogenic disorders in a case with Spinal muscular atrophy "2+ 0" genotype
Shaoying LI ; Jianchun HE ; Wenzhi HE ; Jiajia XIAN ; Lingling HUANG ; Gengye ZHAO ; Xin ZHANG ; Renqian DU ; Liming CHU ; Yueqiang WANG ; Lingyin KONG ; Bo LIANG ; Qing LI
Chinese Journal of Medical Genetics 2024;41(3):294-299
Objective:To explore the clinical application of preimplantation genetic testing for monogenic disorders (PGT-M) in an unique case with Spinal muscular atrophy (SMA) type 2+ 0.Methods:A special SMA family presented at the Third Affiliated Hospital of Guangzhou Medical University on October 19, 2020 was selected as the study subject. Multiple ligation-dependent probe amplification (MLPA) and molecular tagging linkage analysis were carried out to identify the SMN1 genotype of the couple and their fetus. Subsequently, next-generation sequencing (NGS), molecular tagging linkage analysis, and chromosomal microarray analysis were employed to determine the haplotypes and validate the result of PGT-M on the 11 embryos derived for the couple. Results:The female partner was identified as a carrier of the rare SMN1[2+ 0] variant, and prenatal diagnosis confirmed the fetus to be affected by SMA. Ultimately, PGT-M has successfully selected four embryos free from the pathogenic SMN1 variants and X chromosome deletion. Conclusion:PGT-M can effectively prevent the transmission of rare genetic variants such as the SMA 2+ 0 subtype in the families. Above finding has provided guidance for genetic counseling and family planning for the couple.