Prenatal diagnosis of type A fetal interrupted aortic arch by four-dimensional echocardiography with HD-flow STIC: A case report.

Interrupted aortic arch (IAA) is a rare complex congenital heart disease characterized by interrupted continuity between ascending aorta and descending aorta. Prenatal diagnosis of IAA by echocardiography is not uncommonly reported despite its rarity. However, employing four-dimensional ultrasound HD-flow imaging and spatiotemporal image correlation (STIC) in diagnosis of this condition has seldom been reported. We report a case of fetal IAA prenatally diagnosed by two-dimensional echocardiography and HD-flow STIC.

Vascular ring and sling in a fetus who developed esophageal and airway compression after birth.

Vascular ring and sling are congenital anomalies of the vascular structure in the thorax with a prevalence of 2.4/10,000 live births. Double aortic arch (DAA), right aortic arch with left ductus arteriosus and aberrant left subclavian artery (RAA-ALSA), and pulmonary artery sling (PAS) are the three common types of vascular ring and sling. These anomalies can be isolated or accompanied by intracardiac malformation. The presence of both vascular ring and PAS is extremely rare. Here, we report a fetus who was prenatally diagnosed with PAS and RAA-ALS, and developed symptoms due to esophageal and airway compression after birth.

Cripto-1 expression in patients with clear cell renal cell carcinoma is associated with poor disease outcome.

BACKGROUND: Cripto-1 (CR-1) has been reported to be involved in the development of several human cancers. The potential role of CR-1 in clear cell renal cell carcinoma (ccRCC) is still not clear. METHODS: CR-1 expression was evaluated in ccRCC tissues by Real-time quantitative PCR, Western blot and immunohistochemistry. Serum levels of CR-1 were tested by enzyme-linked immunosorbent assay (ELISA). The clinical significance of CR-1 was analyzed. The effects of CR-1 on cell proliferation, migration, invasion and angiogenesis were investigated in ccRCC cell lines in vitro and in vivo, and markers of the epithelial -mesenchymal transition (EMT) were analyzed. The impact of CR-1 on Wnt/ß-catenin signaling pathway was also evaluated in vitro and in vivo. RESULTS: CR-1 expression was elevated in ccRCC tumor tissues and serum samples. CR-1 expression was correlated with aggressive tumor phenotype and poor survival. Ectopic expression of CR-1 significantly promoted cell proliferation, migration, invasion and angiogenesis whereas knockdown of CR-1 inhibited these activities both in vitro and in vivo. Moreover, we found that CR-1 induced EMT and activated Wnt/ß-catenin signaling pathway both in vitro and in vivo. CONCLUSIONS: These results suggest that CR-1 is likely to play important roles in ccRCC development and progression, and that CR-1 is a prognostic biomarker and a promising therapeutic target for ccRCC.

Persistent truncus arteriosus with absent semilunar valve in first trimester.

Persistent truncus arteriosus (PTA) is a relatively uncommon congenital heart disease, accounting for approximately 0.7-1.4% of all congenital cardiac abnormalities worldwide. PTA is usually accompanied by a single semilunar valve, with leaflets ranging from one to six in number. However, absent semilunar valve (ASV) is rarely seen in PTA. Here, we report a case of prenatally diagnosed PTA accompanied by ASV (PTA-ASV) confirmed by postmortem autopsy.

Prenatal diagnosis of pulmonary atresia with ventricular septal defect.

Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare complex congenital heart defect. Major artery-pulmonary collateral arteries (MAPCAs) are characteristic of PA-VSD. Prenatal diagnosis can be achieved in most cases of PA-VSD with recent advances in echocardiography. However, it is extremely rare that all MAPCAs can be observed on the echocardiograph. Here, we report a case of prenatally diagnosed type C PA-VSD in which all the MAPCAs could be seen on the echocardiograph, with the diagnosis supported by autopsy evidence.

Localization of the fetal conus medullaris by oblique view extended imaging.

OBJECTIVE: To evaluate the accuracy of oblique view extended imaging (OVEI) in locating the position of the fetal conus medullaris. METHODS: One hundred and twenty-two normal fetuses and five counterparts with spinal bifida received prenatal ultrasound examination. The vertebral body at the terminal of the conus medullaris and the coronal section of over five vertebral bodies were reconstructed using OVEI. Development of the nervous system of normal fetuses was assessed at postnatal day 28. For spinal bifida cases, pathological examination was performed. RESULTS: Among 127 fetuses, the conus medullaris was accurately positioned in 120 (94.0%) cases according to OVEI. OVEI failed to locate the conus medullaris in three healthy fetuses due to obesity of the mother and four cases with spinal bifida due to abnormal fetal position. The conus medullaris was located at L3 or above in 115 healthy fetuses. The conus medullaris was positioned below L4 in five fetuses with spinal bifida, including L5 in two, S1 in two, and S3 in one, which was consistent with the findings of pathological examination. CONCLUSIONS: OVEI can display the 12th rib, T12, and conus medullaris simultaneously. OVEI is applicable to precisely locate the position of the conus medullaris and useful for prenatal evaluation of spinal bifida.

Genetic polymorphisms -137 (rs187238) and -607 (rs1946518) in the interleukin-18 promoter may not be associated with development of hepatocellular carcinoma.

This study meta-analyzed the literature on possible association of polymorphisms -137 (rs187238) and -607 (rs1946518) in the interleukin-18 (IL-18) promoter with risk of hepatocellular carcinoma (HCC). The analysis included 8 case-control studies on the -137 polymorphism (1,318 cases, 2,254 controls) and 7 case-control studies on the -607 polymorphism (1,262 cases, 1,696 controls). None of the five genetic models suggested a significant association between the -137 polymorphism and HCC risk: allelic model, OR 0.99, 95% CI 0.74-1.34, P = 0.97; recessive model, OR 0.98, 95% CI 0.65-1.46, P = 0.91; dominant model, OR 1.35, 95% CI 0.73-2.52, P = 0.34; homozygous model, OR 0.99, 95% CI 0.65-1.49, P = 0.95; heterozygous model, OR 0.99, 95% CI 0.66-1.48, P = 0.94. Similar results were obtained in subgroup analyses of Asian patients, Chinese patients, or patients with hepatitis B virus (HBV)-related HCC. Similar results were also obtained for the -607 polymorphism across the entire study population as well as in the three subgroups. The available evidence suggests no significant association of the -137 or -607 polymorphisms with risk of HCC in general or specifically of HBV-related HCC. These conclusions should be verified in large, well-designed studies.

Prenatal diagnosis of Berry syndrome by fetal echocardiography: a case report.

We report a case in which Berry syndrome is diagnosed by fetal echocardiography. Fetal echocardiography showed that the ascending aorta, main pulmonary artery, left pulmonary artery, and right pulmonary artery were presented as a vascular complexity in the three vessels and pulmonary arterial branches view.