Comparison of situs ambiguous patterns between heterotaxy syndromes with polysplenia and asplenia.

OBJECTIVES: To compare the differences of visceral anomalies shown by computed tomography (CT) in patients with polysplenia syndrome (PS) or asplenia syndrome (AS). METHODS: This retrospective study was approved by the institutional review board, and informed consent was waived. Thirty-one patients with PS and 29 patients with AS underwent chest-abdominal CT. The evaluated CT findings were as follows: the orientation of stomach, liver and gallbladder; short pancreas; azygous/hemiazygous continuation; ipsilateral position of the inferior vena cava and aorta; preduodenal portal vein; abnormal confluence of renal vein (defined as renal vein drains to the inferior vena cava or azygous/hemiazygous vein at the upper level of celiac trunk origin); gastrointestinal malrotation; and tracheobronchial tree. RESULTS: Azygous/hemiazygous continuation was seen in 74% (20 of 27)/0% (0 of 28) of PS/AS (P<0.0001), bilateral hyparterial bronchi in 75% (24 of 32)/5% (1 of 22), bilateral eparterial bronchi in 9% (3 of 32)/95% (21 of 22), ipsilateral position of the inferior vena cava and aorta in 59% (16 of 27)/89% (25 of 28), and abnormal confluence of renal vein in 7% (2 of 27)/57% (16 of 28), respectively. No significant differences were found in the other anomalies. CONCLUSION: Significant differences in anomalous systemic venous connections and tracheobronchial anomaly were observed between PS and AS. Abnormal confluence of renal vein is relatively rare anomalous venous connections, but frequently observed in AS.

Assessment of cerebrospinal fluid flow patterns using the time-spatial labeling inversion pulse technique with 3T MRI: early clinical experiences.

CSF imaging using the time-spatial labeling inversion pulse (time-SLIP) technique at 3T magnetic resonance imaging (MRI) was performed to assess cerebrospinal fluid (CSF) dynamics. The study population comprised 15 healthy volunteers and five patients with MR findings showing expansive dilation of the third and lateral ventricles suggesting aqueductal stenosis (AS). Signal intensity changes were evaluated in the tag-labeled CSF, untagged brain parenchyma, and untagged CSF of healthy volunteers by changing of black-blood time-inversion pulse (BBTI). CSF flow from the aqueduct to the third ventricle, the aqueduct to the fourth ventricle, and the foramen of Monro to the lateral ventricle was clearly rendered in all healthy volunteers with suitable BBTI. The travel distance of CSF flow as demonstrated by the time-SLIP technique was compared with the distance between the aqueduct and the fourth ventricle. The distance between the foramen of Monro and the lateral ventricle was used to calculate the CSF flow/distance ratio (CD ratio). The CD ratio at each level was significantly reduced in patients suspected to have AS compared to healthy volunteers. CSF flow was not identified at the aqueductal level in most of the patients. Two patients underwent time-SLIP assessments before and after endoscopic third ventriculostomies (ETVs). CSF flow at the ETV site was confirmed in each patient. With the time-SLIP technique, CSF imaging is sensitive enough to detect kinetic changes in CSF flow due to AS and ETV.

Aberration of epidermal growth factor receptor expression in bone and soft-tissue tumors: protein overexpression, gene amplification and activation of downstream molecules.

In order to evaluate the involvement of epidermal growth factor receptor, and to analyze the correlation between gene aberration and protein expression in mesenchymal tumors, we examined protein expression by immunohistochemistry in 125 cases of bone and soft-tissue tumors. Furthermore, amplification of epidermal growth factor receptor gene was determined by fluorescence in situ hybridization. Positive immunostaining was found in 23 cases (18.4%). Among these 23 cases, one of malignant fibrous histiocytoma showed the highest degree (3+) of protein overexpression and gene amplification as clusters of hybridization signals, indicating homogeneously staining regions. The second case of malignant fibrous histiocytoma also showed a higher degree (2+) of overexpression and coamplification of the epidermal growth factor receptor gene with the centromeric regions, indicating polysomy of chromosome 7. The levels of expression observed in immunohistochemistry were confirmed by immunoblotting and found to be comparable. Moreover, although expression of phosphorylated epidermal growth factor receptor was detected in those two cases of malignant fibrous histiocytoma, constitutive activation of extracellular signal-related protein kinase 1/2 was not observed, suggesting that activation of epidermal growth factor receptor does not necessarily and constantly lead to signal transduction to the downstream molecules. In the remaining 123 cases, including 21 cases exhibiting weak (1+) immunoreactivity, no gene amplification nor polysomy was found. Collectively, expression of epidermal growth factor receptor was observed not infrequently in mesenchymal tumors, but 'overexpression' is rare and can be attributed to an increase in gene copy number, resulting from amplification or polysomy. Although cases that scored positive for protein expression and/or gene amplification could be qualified candidates for antiepidermal growth factor receptor therapies, further examination of the status of downstream molecules in the signal cascade, such as phosphorylated epidermal growth factor receptor and extracellular signal-related protein kinase 1/2, may be required as the process of therapeutic strategy.