First experience of real-time elastography with transvaginal approach in assessing response to MRgFUS treatment of uterine fibroids.

PURPOSE: Definition of the role of real-time elastography (RTE) in the evaluation of response to treatment of uterine fibroids using MRgFUS in symptomatic patients. MATERIALS AND METHODS: 28 women with 34 symptomatic fibroids, selected for MRgFUS, were enrolled. The patients were preliminarily studied with MRI and suprapubic and transvaginal ultrasound examination including RTE; the follow-up was performed immediately after treatment, at 3 months and 12 months with the same technique. Each lesion was evaluated by looking for ultrasound parameters (volume, resistance index) and RTE strain ratio (SR). Before and after treatment, all patients completed three questionnaires for symptom evaluation (e.g., uterine fibroids symptoms and quality of life). RESULTS: Of the 27 treated fibroids, only 14 had an effective treatment with non-perfused volume (NPV) >70 %. After 3 months of treatment, 17/21 patients presented significant decrease of uterine bleeding. A positive correlation between %NVP and percentage of fibroid volume decrease was seen. Reduction of SR value from t0 to t2 was found in 19/27 fibroids, particularly significant in fibroids with NPV > 70 %. A significant positive correlation between the percentage of symptom decrease and %SR decrease was found. At the time of statistical analysis, 12/21 patients reached the 12-month follow-up: they showed a further reduction of SR. CONCLUSION: RTE is a valid method able to support standard ultrasound examination in the evaluation of uterine fibroids, since it allows demonstrating the decrease of rigidity, which can be quantified with the SR parameter. It could be included in a pre-treatment multiparametric evaluation of patients looking for MRgFUS eligibility and in follow-up when it could assess the response to treatment.

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disorder, mainly characterized by tortuosity and elongation of the large- and medium-sized arteries with predisposition to stenoses and aneurysms. ATS is caused by mutations in the SLC2A10 gene, encoding for the facilitative glucose transporter 10 (GLUT10) and is described typically in pediatric patients. We report on a 51-year-old woman, originally ascertained because of unexplained widespread chronic pain and positive family history of aortic malformation. The main findings included aged appearance, congenital joint hypermobility, joint instability complications, chronic fatigue syndrome, progressive painful joint stiffness, abdominal hernias, pelvic prolapses, multiple cardiac valve prolapses, varicose veins, easy bruising, and gingival recession. Vascular imaging revealed kinking and anomalous origin of the aortic arch branches, marked tortuosity of the aorta, pulmonary and most middle arteries, and a small aneurysm of the splenic artery. SLC2A10 analysis disclosed homozygosity for the novel c.1411+1G>A splice mutation, leading to a 41 amino acids GLUT10 internal deletion. Expression study by immunofluorescence using healthy control cells showed lack of membrane internalization of GLUT10 in patient's skin fibroblasts. This report describes the first splice-site SLC2A10 mutation and increases to 19 the repertoire of known mutations in this gene. Comparison with the few previously published adult patients with ATS contributes to the natural history of this condition, which is probably under diagnosed within the expanding family of inherited connective tissue disorders.