33 research outputs found

    miRNAs as serum biomarkers for Duchenne muscular dystrophy

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    Dystrophin absence in Duchenne muscular dystrophy (DMD) causes severe muscle degeneration. We describe that, as consequence of fibre damage, specific muscle-miRNAs are released in to the bloodstream of DMD patients and their levels correlate with the severity of the disease. The same miRNAs are abundant also in the blood of mdx mice and recover to wild-type levels in animals ‘cured’ through exon skipping. Even though creatine kinase (CK) blood levels have been utilized as diagnostic markers of several neuromuscular diseases, including DMD, we demonstrate that they correlate less well with the disease severity. Although the analysis of a larger number of patients should allow to obtain more refined correlations with the different stages of disease progression, we propose that miR-1, miR-133, and miR-206 are new and valuable biomarkers for the diagnosis of DMD and possibly also for monitoring the outcomes of therapeutic interventions in humans. Despite many different DMD therapeutic approaches are now entering clinical trials, a unifying method for assessing the benefit of different treatments is still lacking

    Contrast-enhanced ultrasonography (CEUS) of the pancreas

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    Contrast-enhanced US of pancreatic adenocarcinoma

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    Timely Access to Priority Medicines in Europe

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    Many tools have been developed in Europe to accelerate the access to and the availability of medicines. However, this is currently governed by the national Member State procedures for pricing and reimbursement. In many cases, this leads to procedures that often take many months or even years to be completed. This paper explores ways that would allow a more accelerated approach and thus enable a more efficient administrative procedure to be adopted. Therefore, this would favor the timely availability of medicines for severe diseases when an unmet medical need is present

    Long-term outcome of chronic hepatitis B in caucasian patients: mortality after 25 years

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    OBJECTIVE: To assess risk factors for liver-related death, we re-evaluated, after a median follow-up of 25 years, a cohort of 70 Caucasian patients with hepatitis B e antigen (HBeAg) positive chronic hepatitis (CH) at presentation. METHODS: Follow-up studies included clinical and ultrasound examinations, biochemical and virological tests, and cause of death. RESULTS: Sixty-one (87%) patients underwent spontaneous HBeAg seroconversion. During a median period of 22.8 years after HBeAg seroclearance, 40 (66%) patients became inactive carriers, whereas the remaining 21 (34%) showed alanine aminotransferase elevation: one (1%) had HBeAg reversion, nine (15%) detectable serum HBV DNA but were negative for HBeAg, eight (13%) concurrent virus(es) infection and three (5%) concurrent non-alcoholic fatty liver disease. Liver-related death occurred in 11 (15.7%) patients, caused by hepatocellular carcinoma in five and liver failure in six. The 25-year survival probability was 40% in patients persistently HBeAg positive, 50% in patients with HBeAg negative CH or HBeAg reversion and 95% in inactive carriers. Older age, male sex, cirrhosis at entry and absence of sustained remission predicted liver-related death inhttps://www.univr.u-gov.it/univr/#dependently. The adjusted hazard ratios (95% CI) for liver related death were 33 (3.01-363) for persistently HBeAg positive patients and 38.73 (4.65-322) for those with HBeAg negative CH or HBeAg reversion relative to inactive carriers. CONCLUSION: Most patients with HBeAg seroconversion became inactive carriers with very good prognosis. The risk of liver-related mortality in Caucasian adults with CH is strongly related with sustained disease activity and ongoing high level of HBV replication independently of HBeAg status

    Focal liver lesions: sinusoidal phase of CEUS.

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    Ultrasound examination is the first imaging modality for hepatic study in neoplastic and chronic liver diseases. Focal liver lesions frequently cause diagnostic problems in terms of characterization, especially when small and hypoechoic to the rest of the parenchyma. Contrast--enhanced ultrasonography (CEUS) has shown its value in the characterization of focal liver lesions. This study assessed the value of the sinusoidal phase of CEUS with a second-generation contrast agent in the characterization of focal liver lesions to distinguish benign from malignant. Two hundred hepatic lesions with suspicious features at baseline ultrasound were prospectively studied with CEUS. Sensitivity, specificity, positive and negative predictive values, and diagnostic accuracy of the sinusoidal phase in the characterization of benign versus malignant liver lesions were evaluated. Hypoechogenicity of the focal liver lesion, during the sinusoidal phase of CEUS, allowed the diagnosis of malignancy with a sensitivity of 85%, specificity of 88%, positive predictive value of 92%, negative predictive value of 77%, and diagnostic accuracy of 86%. The diagnostic confidence in the diagnosis of malignancy significantly increased, with receiver operating characteristic curve areas from 0.536 for baseline ultrasound to 0.902 for the sinusoidal phase of CEUS

    Is intraoperative ultrasound (IOUS) still useful for the detection of liver metastases?

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    PURPOSE: To evaluate the clinical impact of intraoperative ultrasound (IOUS) in the detection of liver metastases during the years, as compared with those of other imaging modalities. MATERIALS AND METHODS: All IOUS scans performed for detection of liver metastases from 2000 to 2006 were retrospectively reviewed and compared with the results of preoperative imaging modalities: Ultrasound (US), Computed Tomography (CT), and/or Magnetic Resonance (MR). The number of cases in which IOUS and preoperative imaging studies produced discordant results, in terms of presence/absence of focal liver lesions, was calculated per year. Statistical analysis was performed using the McNemar test. A p value < 0.05 was considered statistically significant. RESULTS: Eighty-three IOUS scans performed in 2000-2003 were reviewed, and discordance with preoperative imaging findings was found in 19/83 (23%) cases. Of the 42 IOUS scans done during the 2004-2006 period, 10/42 (24%) showed discordance with preoperative studies. All metastases diagnosed with imaging studies were pathologically confirmed. The number of discordant cases in the two periods were not significantly different (p = 0.2). CONCLUSION: IOUS is still useful in the detection of liver metastases. Its decreased use is probably due to the improved accuracy of preoperative imaging modalities
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