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Dystrophin is a subsarcolemmal protein that, by linking the actin cytoskeleton to the extracellular matrix via dystroglycans, is critical for the integrity of muscle fibers. Here, we report that epidermal melanocytes, obtained from conventional skin biopsy, express dystrophin with a restricted localization to the plasma membrane facing the dermal-epidermal junction. In addition the full-length muscle isoform mDp427 was clearly detectable in melanocyte cultures as assessed by immunohistochemistry, RNA, and Western blot analysis. Melanocytes of Duchenne muscular dystrophy (DMD) patients did not express dystrophin, and the ultrastructural analysis revealed typical mitochondrial alterations similar to those occurring in myoblasts from the same patients. Mitochondria of melanocytes from DMD patients readily accumulated tetramethylrhodamine methyl ester, indicating that they are energized irrespective of the presence of dystrophin but, at variance from mitochondria of control donors, depolarized upon the addition of oligomycin, suggesting that they are affected by a latent dysfunction unmasked by inhibition of the ATP synthase. Pure melanocyte cultures can be readily obtained by conventional skin biopsies and may be a feasible and reliable tool alternative to muscle biopsy for functional studies in dystrophinopathies. The mitochondrial dysfunction occurring in DMD melanocytes could represent a promising cellular biomarker for monitoring dystrophinopathies also in response to pharmacological treatments., (Copyright © 2012 Wiley Periodicals, Inc.)

We report the case of an 8-year-old boy with a red cell membrane disorder who developed, soon after undergoing laparoscopic cholecystectomy and splenectomy, complete thrombosis of the right branch and a partial occlusion of the left branch of the portal vein. The child was affected by a right hemiparesis because of a hypoxic-ischemic disorder that occurred in the first hours of life and was heterozygous for the methylenetetrahydrofolate reductase gene mutation 677C-T. Intravenous heparin and aspirin were initiated on postoperative day 7. Heparin treatment was switched to the subcutaneous route after the first 24 hours. The symptoms subsided 3 days after the beginning of treatment, whereas complete resolution of portal vein thrombosis was observed 2 months later. A review of the literature is reported, and the possible pathogenetic mechanisms underlying portal vein thrombosis are discussed.

Background: Thyroglossal duct cysts are in second place after goitre as a cause of anterior neck mass in paediatric age. The essentially clinical diagnosis is made on the basis of the observation of an asymptomatic mass, in most cases between the ages of 3 and 5. In this study we re-examined the cases of thyroglossal duct cyst which underwent surgical correction at our Operative Unit in the last 25 years, with particular attention to the factors involved in the recurrences., Methods: Patients studied numbered 76 with average age at the first operation of 5.3 years; diagnosis was based on clinical and echographic criteria. In 42% of patients one or more episodes of inflammation or suppuration characterised the clinical history. All operations were carried out according to Sistrunk's technique. Follow-up varied from 6 months to 25 years., Results: The percentage of recurrences was 11.8%. The percentage of cysts with inflammation was similar in the group of recurrences and in that of non-recurrences., Conclusions: In conclusion, in the presence of a radical surgical intervention, the existence of inflammation does not significantly influence the incidence of recurrence. This radicality should be understood both in the sense of depth (exeresis of the hyoid bone) and in the sense of laterality (removal of the lateral ramifications starting from the main residual duct).