Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin protein, have recently been reported to cause both Charcot-Marie-Tooth 2A (CMT2A) and hereditary motor and sensory neuropathy VI (HMSN VI). It is well known that HMSN VI is an axonal CMT neuropathy with optic atrophy. However, the differences between CMT2A and HMSN VI with MFN2 mutations remained to be clarified. Therefore, we studied the phenotypic characteristics of CMT patients with MFN2 mutations. Mutations in MFN2 were screened in 62 unrelated axonal CMT neuropathy families. We calculated CMT neuropathy scores (CMTNSs) and functional disability scales (FDSs) to quantify disease severity. Twenty-one patients with the MFN2 mutations were studied by brain MRI. Ten pathogenic mutations were identified in 26 patients from 15 families (24.2%). Six of these mutations had not been reported, and de novo mutations were observed in five families (33.3%). The electrophysiological patterns of affected individuals with the MFN2 mutations were typical of axonal CMT; however, the clinical and electrophysiological characteristics were markedly different in early (<10 years) and late disease-onset (> or =10 years) groups. All patients with an early onset had severe CMTNS (> or =21) and FDS (6 or 7), whereas most patients with late onset had mild CMTNS (< or =10) and FDS (< or =3). We identified two HMSN VI families with the R364W mutation in the early onset group; however, two other families with the same mutation did not have optic atrophy. In addition, two early onset families with R94W mutations, previously reported for HMSN VI, did not have visual impairment. Interestingly, eight patients had periventricular and subcortical hyperintense lesions by brain MRI. In the late-onset group, three patients had sensorineural hearing loss and two had bilateral extensor plantar responses. We found that MFN2 mutations are the major cause of axonal CMT neuropathy, and that they are associated with variable CNS involvements. Phenotypes were significantly different in the early and late disease-onset groups. Our findings suggest that HMSN VI might be a variant of the early onset severe CMT2A phenotype.

CT colonography in a Korean population with a high residue diet: comparison between wet and dry preparations.

AIM: To compare wet and dry preparation methods for computed tomography colonography (CTC) in terms of preparation quality, interpretation time, and diagnostic performance for polyp detection in a population with a high residue diet. MATERIALS AND METHODS: Eighty-six patients were divided into two groups. Group 1 (n=24) received a wet preparation of 4l polyethylene glycol (PEG) solution, and group 2 (n=62) received a dry preparation of phosphor-soda. Abnormal findings, including polyps, and the time required to interpret the CTC images in both groups were documented by a radiologist. CTC findings were compared to those of colonoscopy as a reference standard. Two radiologists evaluated the quality of CTC with regard to residual fluid, faeces, and colonic distension using a four-point scale in consensus. Statistical differences for residual fluid, faeces, distensibility on CTC, and interpretation time between the two groups were analysed. The diagnostic performance of CTC in both groups was also compared. RESULTS: One-hundred and ninety polyps in 70 patients were identified using colonoscopy. Regarding the quality of images produced the wet preparation was significantly better than the dry preparation (p<0.05). The average interpretation time was significantly shorter for the wet group (11.7 min) than the dry group (16.4 min) (p<0.05). For per-patient analysis, the positive predictive value (PPV) was significantly better for the wet (100%) than the dry group (79.6%; p=0.025). Sensitivities and PPV for >or=10 mm polyps were comparable between two groups (p>0.05). CONCLUSION: In a population with a high-residue diet, CTC with wet preparation can be interpreted in a time-efficient manner and is comparable with CTC with dry preparation.

Early gastric cancer: virtual gastroscopy.

Gastric cancer is one of the most common cancers and one of the most frequent causes of cancer-related deaths worldwide. Early detection and accurate preoperative staging of early gastric cancer (ECG) offers the best prognosis and is essential for planning optimal therapy such as endoscopic mucosal resection or gastric resection. Recent advances in computed tomographic technology and three-dimensional imaging software have enabled more accurate gastric imaging. Virtual gastroscopy (VG) is helpful in the detection and evaluation of EGC in the same way as gastroscopy. VG has a wider field of view than conventional gastroscopy, the angle of the virtual cancer can be adjusted omnidirectionally, and it has no blind point because retrospective reconstruction is available. Thus, VG is a promising method for evaluating gastric lesions despite its limitations. This report describes the clinical usefulness of VG with multidetector row computed tomography for EGC and axial computed tomography.

Renal perfusion abnormality. Coded harmonic angio US with contrast agent.

PURPOSE: Coded harmonic angio (CHA) US is a recently developed technique that can depict the effects of contrast agents. The purpose of this study was to determine the role of this technique in depicting the enhancement patterns of various renal perfusion abnormalities compared with dynamic CT. MATERIAL AND METHODS: During a 6-month period, various renal lesions including renal cell carcinoma (n=12), transitional cell carcinoma (n=5), acute pyelonephritis (n=5), and renal trauma (n=2) were evaluated with CHA US using a microbubble contrast agent. US images were obtained before contrast administration and with a bolus injection of 4 g of microbubble contrast agent (300 mg/ml) every 10 s for 1 min and every minute for 5 min. The contrast enhancement patterns of various renal masses were compared with dynamic CT. RESULTS: Of 12 renal cell carcinomas, 9 (75%) showed heterogeneous enhancement and the remaining 3 (25%) showed homogeneous enhancement. Enhancement of more than adjacent renal parenchyma was seen 16-252 s after injection. The duration of enhancement was 13-208 s (mean, 80 s). All transitional cell carcinomas showed peripheral enhancement. Enhancement was seen 22-270 s after injection. The duration of enhancement was 191-238 s (mean, 291 s). Five patients with acute pyelonephritis and 2 with renal trauma showed focal perfusion defects not shown on the pre-contrast examinations. CONCLUSION: CHA US with microbubble contrast agent is an effective US technique for the evaluation of both tumor vascularity and renal perfusion abnormality.

Accuracy of CT in local staging of gallbladder carcinoma.

PURPOSE: To evaluate the accuracy of CT for staging gallbladder cancers, especially the T-factor of the TNM staging system. MATERIAL AND METHODS: CT investigations of 100 patients with surgically proven gallbladder cancers were retrospectively analyzed. Dynamic helical CT was performed in 16 patients and conventional CT in the remaining 84. On CT, three radiologists attempted tumor staging for these patients; the majority opinion was used for final decision. According to CT protocols (dynamic helical CT vs. conventional CT) and each tumor type (thickened wall/intraluminal mass/massive), the accuracy of CT staging was compared. The CT staging was correlated with the surgico-pathologic results. RESULTS: The overall accuracy of CT for staging gallbladder cancers was 71%; it was 79% for T1 and T2 tumors, 46% for T3 tumors, and 73% for T4 tumors. For all three readers, the poorest accuracy was obtained in T3 tumors. No statistically significant difference was noted in the accuracy between the groups undergoing conventional CT and dynamic helical CT. A statistically significant difference was noted in the accuracy for staging thickened wall and intraluminal mass types of tumors (p<0.05); the highest accuracy was obtained in the intraluminal mass type (89%) and the massive type (83%), while it was 54% in the thickened wall type. CONCLUSION: The accuracy of tumor staging with CT in patients with gallbladder cancer depends on the morphological type of tumor. The poorest result is obtained in the thickened wall type.