Objective To explore the value of prenatal ultrasound,autopsy and vascular cast in diagnosis of right atrial isomerism(RAI).Methods Forty cases diagnosed as RAI by prenatal ultrasound from May 2012 to May 2017 were analyzed.And the results of autopsy and vascular cast after odinopoeia were compared,then up the characteristics of RAI were summed.The feature of venous drainage was the point.Results For all the 40 cases,the relative position of magenblase,the cross section of aortaventralis, the cross section of inferior vena cava and umbilical vein were lost"C"shape view.In intracardiac anomalies magenblase and cardiac apex on the different sides accounted for 77.5%,the atrioventricular septal defect accounted for 67.5%,the right ventricle double outlet accounted for 65.0%,and pulmonary artery stenosis accounted for 52.5%.The major finding of venous drainage were:bilateral superior vena cava accounted for 52.5%,left inferior vena cava accounted for 60.0%,abnormal hepatic venous drainage accounted for 20.0%,pulmonary vein co-antrum accounted for 45.0%.Three cases of cardiac malformation and 4 cases of abnormal pulmonary venous drainage were misdiagnosed,and 4 cases of abnormal hepatic venous drainage were missed by prenatal ultrasound.Conclusions RAI always combines distinctive cardiac malformations and abnormal venous drainage.Prenatal ultrasound has significant diagnostic value.It's important to have further understanding about RAI through the feedback of autopsy and vascular cast.

Objective:To investigate the clinicopathological features of fumarate hydratase (FH) deficiency uterine leiomyoma.Methods:The data of 38 patients with FH deficiency uterine leiomyoma were screened and analyzed. The expressions of FH, S-(2-succino)-cysteine (2SC), desmin, p16, p53, CD 10 and cell proliferation associated nuclear antigen (Ki-67) proteins were detected by immunohistochemistry, and their clinicopathological features were analyzed retrospectively. Results:(1) Clinical features: the median age of the patients was (42.5±7.4) years old. Twenty-one cases (55%) of them were myomas found in physical examination, and the median maximum diameter of the tumor was 6.0 cm (range: 5.0-7.5 cm); myomectomy was performed in 23 cases (61%), total hysterectomy with or without bilateral appendages in 15 cases (39%); laparoscopic surgery in 27 cases (71%), open surgery in 11 cases (29%); none of the patients had renal cell carcinoma. (2) Histological features: atypical nuclear cells were distributed locally or diffusely, eosinophilic nucleoli and intranuclear inclusion bodies could be seen, glass like globules could be seen in the cytoplasm, nuclear division was 0-4/10 high power field (HPF), and antler like blood vessels and pulmonary edema-like changes could be seen in the stroma. Among 38 patients with FH deficiency uterine leiomyoma, FH was negative in 37 cases (97%), and positive in 1 case (3%); 2SC, desmin, p16, p53, CD 10 and Ki-67 showed focal positive expression in 38 cases (100%), including 35 cases (92%) with Ki-67 index<10% and 3 cases (8%) with Ki-67 index ≥10%. (3) Follow-up: 4 cases (11%) recurred, and there was no death. There were significant differences in age, family history, distribution of atypical nuclei and mitosis number between recurrent group and non-recurrent group (all P<0.05). Conclusions:FH deficiency uterine leiomyoma is a rare tumor, which needs pathological examination,immunohistochemical examination and clinical history. Patients younger than 43 years old, with family history, histologically atypical diffuse nuclear distribution and mitotic number ≥3/10 HPF should be alert to the risk of recurrence.