Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.

OBJECTIVE: Spinocerebellar ataxia 38 (SCA38) is caused by mutations in the ELOVL5 gene, which encodes an elongase involved in the synthesis of polyunsaturated fatty acids, including docosahexaenoic acid (DHA). As a consequence, DHA is significantly reduced in the serum of SCA38 subjects. In the present study, we evaluated the safety of DHA supplementation, its efficacy for clinical symptoms, and changes of brain functional imaging in SCA38 patients. METHODS: We enrolled 10 SCA38 patients, and carried out a double-blind randomized placebo-controlled study for 16 weeks, followed by an open-label study with overall 40-week DHA treatment. At baseline and at follow-up visit, patients underwent standardized clinical assessment, brain 18-fluorodeoxyglucose positron emission tomography, electroneurography, and ELOVL5 expression analysis. RESULTS: After 16 weeks, we showed a significant pre-post clinical improvement in the DHA group versus placebo, using the Scale for the Assessment and Rating of Ataxia (SARA; mean difference [MD] = +2.70, 95% confidence interval [CI] = +0.13 to + 5.27, p = 0.042). At 40-week treatment, clinical improvement was found significant by both SARA (MD = +2.2, 95% CI = +0.93 to + 3.46, p = 0.008) and International Cooperative Ataxia Rating Scale (MD = +3.8, 95% CI = +1.39 to + 6.41, p = 0.02) scores; clinical data were corroborated by significant improvement of cerebellar hypometabolism (statistical parametric mapping analyses, false discovery rate corrected). We also showed a decreased expression of ELOVL5 in patients' blood at 40 weeks as compared to baseline. No side effect was recorded. INTERPRETATION: DHA supplementation is a safe and effective treatment for SCA38, showing an improvement of clinical symptoms and cerebellar hypometabolism. Ann Neurol 2017;82:615-621.

US-elastography in the differential diagnosis of benign and malignant thyroid nodules.

BACKGROUND: Ultrasound (US)-elastography is a newly developed imaging technique for the reconstruction of tissue stiffness by measuring the degree of tissue's deformation in response to the application of an external force. This technique has previously been shown to be useful in the differential diagnosis between benign and malignant tumors. METHODS: The objective of this study was to assess the diagnostic accuracy of US-elastography in the differential diagnosis of thyroid cancer, using the cytologic/histopathologic analysis as the reference standard. A total of 67 consecutive patients with thyroid nodules who were referred to the Thyroid Unit at the Policlinico MultiMedica were enrolled in this prospective study between January and December 2006. Eighty-six nodules in these patients were examined by US B-mode, US color-power-Doppler, and US-elastography. Nodules were subjected to fine-needle aspiration biopsy and patients with a reading of malignant or indeterminate had thyroid surgery. The final diagnosis was based on the cytology reading in those who did not have surgery and the histopathology reading in those who had surgery. US-elastography scores were based on four classes of tissue stiffness (class 1 for soft nodules; class 2 and 3 for nodules with an intermediate degree of stiffness; class 4 for anelastic lesions). RESULTS: Seventeen nodules were malignant and 69 were benign. Sensitivity and specificity of the US-elastography for thyroid cancer diagnosis were 94.1% (16/17) and 81% (56/69), respectively. The positive and negative predictive values were 55.2% (16/29) and 98.2% (56/57), respectively. The accuracy of the technique was 83.7%. CONCLUSION: US-elastography is a promising technique that, combined with other US modalities, is easy and rapid to perform and can help to identify thyroid nodules that are likely to be malignant. An important limitation is probably lack of sensitivity for follicular thyroid carcinoma.

Effects of venesections and restricted diet in patients with the insulin-resistance hepatic iron overload syndrome.

GOAL: We evaluated the effect of venesections and restricted diet on iron and metabolic indices and liver function tests in patients with insulin-resistance hepatic iron overload (IR-HIO). MATERIALS AND METHODS: Patients were divided in three groups: (a) patients without any therapy who were followed-up for 36+28 months; (b) patients venesected; and (c) patients on dietary treatment. In each group baseline and end-point levels of serum iron and metabolic indices, and liver function tests were compared by Student's paired t-test and the relationship between serum ferritin and the other variables during treatment was evaluated by linear regression analysis. FINDINGS AND CONCLUSIONS: In the follow-up group, iron and metabolic indices did not change over time. Serum alanine aminotransferase, gamma-glutamyl transferase, cholesterol and triglycerides significantly decreased after iron depletion. Serum glucose, cholesterol, triglyceride, ferritin and liver function tests significantly decreased after dietary treatment. Transferrin saturation decreased below 20% during phlebotomy treatment in 52% of the patients. In conclusion, our results show that IR-HIO patients had relatively low amount of iron overload that seems not to increase even after a long follow-up period. Both venesections and diet improved iron, metabolic and hepatic indices. Data suggest a relationship between hepatic iron overload and insulin resistance, and a role for both iron overload and insulin resistance in hepatocellular damage. The behaviour of iron indices during venesections suggests an impaired iron release from hepatic cells.