Cinematographic techniques in the diagnostics of intestinal diseases using MRT enteroclysma.

PURPOSE: We investigated whether an additional cine sequence in MR enteroclysis examination is practicable and would provide additional findings in the diagnostics of patients with abdominal diseases. MATERIALS AND METHODS: Seventeen consecutively presenting patients with known or presumed abdominal disease (known or presumed intestinal illness; age range, 21-57 years; mean age, 34.1 years; male:female ratio, 4:13) were retrospectively studied. All patients underwent MRI enteroclysis at 1.5 T subsequent to conventional ileocolonoscopy, which was used as reference standard. A gastroenterologist and a radiologist evaluated the MRI examinations together to see whether the additional cine sequences would provide any additional findings. RESULTS: The cine sequences provided relevant diagnostic information in at least 11 of 17 patients (60.6%). In five patients, we were able to determine a stenosis as scarred; in two patients, normal peristalsis of the bowel was demonstrated, showing that the stenosis had not been scarred. CONCLUSION: This study provides strong evidence that the implementation of cine sequences in MRI enteroclysis examination provides additional findings with clinical relevance, especially for distinguishing scarred and functional stenoses.

Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound.

The purpose was to evaluate interobserver agreement on Doppler ultrasonographic (US) diagnosis of liver vascular malformations (VMs) in hereditary hemorrhagic teleangiectasia (HHT) and on their severity grading. During the interobserver agreement study, three observers with at least seven years of specific experience using Doppler US for the diagnosis of liver VMs, judged about the presence/absence of liver VMs and their severity on a set of images and videoclips. Interobserver agreement was estimated with kappa statistics. One-hundred ten cases were reviewed during interobserver study (80 cases with liver VMs, 30 without). Very good kappa values of the interobserver agreement were found for all pairs concerning the distinction between presence and absence of hepatic VMs. All observers demonstrated excellent sensitivity and specificity in identifying hepatic VMs, with their respective areas under the curve ranging from 0.97 to 0.99. Interobserver agreement among the three investigators in staging the hepatic VMs in HHT patients was moderate (Kendall's coefficient of concordance = 0.26). Study results indicate that Doppler US diagnosis of liver VMs in HHT has a high degree of agreement among ultrasonographers; a moderate agreement was found regarding severity staging.

Effects of creatine supplementation on nutritional status, muscle function and quality of life in patients with colorectal cancer--a double blind randomised controlled trial.

BACKGROUND & AIM: Nutritional status frequently deteriorates during chemotherapy in cancer. This is associated with a poor outcome. Since creatine supplementation has shown promising results in various diseases, we investigated the effects of creatine on nutritional status in patients with colorectal cancer undergoing chemotherapy. METHODS: Thirty patients with colorectal cancer undergoing chemotherapy were randomised to receive either creatine (n=16) or placebo (n=15) for 8 weeks. Body composition was determined with bioelectrical impedance analysis; muscle function by hand grip, hip flexion and knee extension strength and quality of life (QoL) was assessed by the QLQ30 questionnaire. RESULTS: Neither muscle function, body cell mass (BCM) nor QoL improved, but phase angle, a marker of BCM and cell integrity, increased significantly in the intervention patients (5.3+/-0.3 degrees to 5.4+/-0.2 degrees , P=0.030). Evaluating patients with different chemotherapy regimens, however, only intervention patients undergoing less aggressive chemotherapy were shown to benefit, increasing phase angle (5.11+/-0.22 degrees to 5.51+/-0.30 degrees , P=0.043) as well as BCM (27.22+/-2.85 to 29.60+/-3.54kg, P=0.043). CONCLUSION: Creatine failed to improve muscle mass or function and QoL in colorectal cancer patients but improved bioimpedance parameters that are predictive of poor outcome. Creatine might therefore be useful in patients with milder chemotherapy in order to maintain or increase BCM whereas patients undergoing aggressive chemotherapy however are not likely to benefit.

Evaluation of diagnostic criteria for liver metastases of adenocarcinomas and neuroendocrine tumours at conventional ultrasound, unenhanced power Doppler sonography and echo-enhanced ultrasound.

PURPOSE: In order to improve the differential diagnosis between liver metastases of neuroendocrine tumours and adenocarcinomas, criteria for the masses at conventional ultrasound, unenhanced power Doppler sonography and echo-enhanced ultrasound were evaluated. METHODS: Seventy-three patients with histologically proven liver metastases of a neuroendocrine tumour (n = 26) or an adenocarcinoma (n = 47) were investigated by conventional ultrasound as well as unenhanced power Doppler sonography and echo-enhanced ultrasound focusing on specific properties of the lesions. RESULTS: Liver metastases of neuroendocrine tumours and adenocarcinomas showed a different contrast behaviour with echo-enhanced sonography. A hypervascularisation at the arterial and capillary phase were found in 85% of the neuroendocrine metastases, and in 17% of the masses of adenocarcinomas, respectively (p < 0.05). CONCLUSIONS: The successful treatment of liver metastases requires a highly sensitive and specific diagnostic procedure for their differentiation. A hypervascularisation of the lesions during the arterial and capillary phase at echo-enhanced ultrasound may point to a neuroendocrine primary tumour. However, histology is the only standard of reference for the differentiation of liver metastases, and is necessary for optimal therapy.

Improved diagnosing of small hepatocellular carcinomas by echo-enhanced power Doppler sonography in patients with cirrhosis.

BACKGROUND AND AIMS: Echo-enhanced power Doppler sonography is an increasingly used procedure for the differentiation of liver tumours. The aim of this prospective study was to investigate the accuracy of echo-enhanced power Doppler sonography in comparison with conventional ultrasound and fundamental power Doppler sonography in diagnosing hepatocellular carcinomas and regenerative nodules in patients with cirrhosis. SUBJECTS AND METHODS: Eighty-seven patients with cirrhosis and 90 liver tumours at conventional ultrasound were included in the study, selected from 103 consecutive patients with a mean age of 60 years (range 23-87 years) who presented to our department from January 1998 through January 2002. Sonography was performed by an experienced examiner, who was unaware of the clinical diagnosis. The exact diagnosis was based upon histological evidence from biopsy examination, laboratory results, and/or a follow-up of at least 18 months. RESULTS: There were 65 hepatocellular carcinomas, 21 regenerative nodules, and four metastases in the study group. Only 43% of the carcinomas (mainly nodules > 3 cm in diameter) could be classified correctly by conventional ultrasound or fundamental power Doppler sonography. However, 46% of the malign lesions (mainly nodules < 3 cm in diameter) were not differentiable. All non-differentiable tumours were classified correctly by echo-enhanced power Doppler sonography. The overall sensitivity of echo-enhanced power Doppler sonography with respect to diagnosing hepatocellular carcinoma was 89%; its specificity was 60%. The corresponding values for regenerative nodules were 71% and 100%, respectively. CONCLUSIONS: Only hepatocellular carcinomas greater than 3 cm in size can be diagnosed with a high accuracy by conventional ultrasound or fundamental power Doppler sonography. However, small malignant lesions in cirrhotic livers are often not differentiable with these techniques. With echo-enhanced power Doppler sonography, the differentiation of small hepatocellular carcinomas can be improved. However, histology is the standard of reference.

A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese origin.

The vast majority of Caucasian patients presenting with hereditary hemochromatosis demonstrate a single homozygous missense mutation in the HFE gene (C282Y). The underlying genetic defects in hemochromatosis patients of non-Caucasian origin are largely unknown. A 48-year-old man of Vietnamese origin presented with insulin-dependent diabetes mellitus, tertiary adrenocortical insufficiency, and laboratory results highly indicative of hereditary hemochromatosis. Because the patient was negative for the known HFE gene mutations C282Y, H63D, and S65C HFE, the entire coding region and intron/exon boundaries of the HFE gene was investigated. Sequencing studies identified a homozygous G-to-A transition at position +1 of intron 5 (IVS5+1 G/A). This newly described mutation alters the invariant G at position +1 of the 5' splice site causing altered mRNA splicing and exon skipping with exon 4 being spliced to exon 6. Both heterozygously affected children (age 19 and 20 years) had moderately increased ferritin levels with normal serum iron concentration and transferrin saturation. The newly described mutation was not detected in a control group consisting of 220 Caucasian individuals as verified by allele-specific polymerase chain reaction. We describe for the first time a homozygous HFE splice site mutation (IVS5+1 G/A) in a non-Caucasian patient with hereditary hemochromatosis. Although the absence of this novel HFE gene mutation in Caucasian subjects suggests that the mutation is exclusive to this family, mutation screening in populations of different ethnic background is recommended to precisely define its contribution to hereditary hemochromatosis in non-Caucasian patients.