Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy.

Fabry Disease (FD) is a systemic disorder that can result in cardiovascular, renal, and neurovascular disease leading to reduced life expectancy. FD should be considered in the differential of all patients with unexplained left ventricular hypertrophy (LVH). We therefore performed a prospective screening study in Edmonton and Hong Kong using Dried Blood Spot (DBS) testing on patients with undiagnosed LVH. Participants found to have unexplained LVH on echocardiography were invited to participate and subsequently subjected to DBS testing. DBS testing was used to measure α-galactosidase (α-GAL) enzyme activity and for mutation analysis of the α-galactosidase (GLA) gene, both of which are required to make a diagnosis of FD. DBS testing was performed as a screening tool on patients (n = 266) in Edmonton and Hong Kong, allowing for detection of five patients with FD (2% prevalence of FD) and one patient with hydroxychloroquine-induced phenocopy. Left ventricular mass index (LVMI) by GLA genotype showed a higher LVMI in patients with IVS4 + 919G > A mutations compared to those without the mutation. Two patients were initiated on ERT and hydroxychloroquine was discontinued in the patient with a phenocopy of FD. Overall, we detected FD in 2% of our screening cohort using DBS testing as an effective and easy to administer screening tool in patients with unexplained LVH. Utilizing DBS testing to screen for FD in patients with otherwise undiagnosed LVH is clinically important due to the availability of effective therapies and the value of cascade screening in extended families.

Safety and efficacy of sonographically guided high-intensity focused ultrasound for symptomatic uterine fibroids: preliminary study of a modified protocol.

OBJECTIVES: We aimed to assess the safety and efficacy of sonographically guided high-intensity focused ultrasound for treating patients with symptomatic uterine fibroids using a modified protocol. METHODS: This work was part of an ongoing prospective phase 1 study. Twenty patients with 22 symptomatic fibroids were treated with sonographically guided high-intensity focused ultrasound under no anesthesia. The modified protocol consisted of repeated and shortened (<25 minutes) treatment sessions of high-input acoustic intensity (1000-1500 W/cm(2)) and intensified sonication pulses (1500-2000) at each spot. The primary end points were periprocedural complications. The secondary end points were symptomatic improvement and radiologic evidence of treatment responses, including the degree of fibroid infarction and volume shrinkage 3 months after treatment. Symptomatic improvement was assessed by a pain score, a pictorial chart menstrual score, the Urogenital Distress Inventory short form, and the Incontinence Impact Questionnaire short form. The degree of fibroid infarction was assessed by the nonperfused ratio on contrast-enhanced magnetic resonance imaging, defined as the ratio of the nonperfused fibroid volume to the total fibroid volume. RESULTS: Nineteen patients tolerated the treatment well, with no major adverse events. One patient who received treatment for a fibroid located within 6 cm from the skin had third-degree skin burns at 2 sites of 1 cm in diameter. Fibroid-related abdominal pain, pictorial chart, Urogenital Distress Inventory, and Incontinence Impact Questionnaire scores were significantly improved (P < .05). The median nonperfused ratio at 3 months was 20% (95% confidence interval, 5%-32.5%). Median volume shrinkage at 3 months was 17.2% (95% confidence interval, 4.3%-26.6%). CONCLUSIONS: Sonographically guided high-intensity focused ultrasound using a modified protocol may be safe and effective for symptomatic uterine fibroids in selected patients to avoid skin burns.

Comparison of clinical outcomes of tris-acryl microspheres versus polyvinyl alcohol microspheres for uterine artery embolization for leiomyomas: results of a randomized trial.

PURPOSE: To compare tris-acryl microspheres and polyvinyl alcohol (PVA) microspheres as embolic agents in uterine artery embolization (UAE) for uterine leiomyomas in terms of clinical outcome, inflammatory response, and adverse reactions. MATERIALS AND METHODS: A double-blinded randomized controlled trial was performed, with 27 patients in the tris-acryl microsphere group and 29 in the PVA microsphere group. The primary endpoint was clinical success, defined as a 2-year freedom from subsequent surgery as a result of persistent or deteriorated symptoms. Secondary endpoints included (i) posttreatment leiomyoma enlargement, (ii) leiomyoma volume reduction at 3 and 9 months, (iii) significant residual intratumoral perfusion, (iv) increase in inflammatory and stress markers, (v) incidence of complications, and (vi) duration of hospital stay. RESULTS: There was no statistically significant difference between the two groups in patient demographics, clinical presentation, initial tumor findings, change in inflammatory and stress markers after treatment, incidence of complications, and duration of hospital stay. Tris-acryl microspheres were associated with a higher rate of clinical success than PVA microspheres (96.3% [26 of 27] vs 69% [20 of 29]; P = .012), a lower incidence of posttreatment leiomyoma enlargement (P = .030), and a lower incidence of significant residual intratumoral perfusion (P = .030). CONCLUSIONS: In the treatment of uterine leiomyomas, UAE with tris-acryl microspheres was associated with a higher clinical success rate, a lower incidence of tumor enlargement, and no significant differences in adverse reactions and inflammatory response compared with the use of PVA microspheres. Tris-acryl microspheres therefore represent the preferred agent for UAE of uterine leiomyomas.