Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

Brugada syndrome is an inherited arrhythmogenic disorder leading to sudden death predominantly in the 3–4 decade. To date the only reliable treatment is the implantation of a cardioverter defibrillator; however, better criteria for risk stratification are needed, especially for asymptomatic subjects. Brugada syndrome genetic bases have been only partially understood, accounting for <30% of patients, and have been poorly correlated with prognosis, preventing inclusion of genetic data in current guidelines. We designed an observational study to identify genetic markers for risk stratification of Brugada patients by exploratory statistical analysis. The presence of genetic variants, identified by SCN5A gene analysis and genotyping of 73 candidate polymorphisms, was correlated with the occurrence of major arrhythmic events in a cohort of 92 Brugada patients by allelic association and survival analysis. In all, 18 mutations were identified in the SCN5A gene, including 5 novel, and statistical analysis indicated that mutation carriers had a significantly increased risk of major arrhythmic events (P=0.024). In addition, we established association of five polymorphisms with major arrhythmic events occurrence and consequently elaborated a pilot risk stratification algorithm by calculating a weighted genetic risk score, including the associated polymorphisms and the presence of SCN5A mutation as function of their odds ratio. This study correlates for the first time the presence of genetic variants with increased arrhythmic risk in Brugada patients, representing a first step towards the design of a new risk stratification model.     

The axillary versus internal mammary recipient vessel sites for breast reconstruction with diep flaps: A retrospective study of 256 consecutive cases

The aim of this study is to present our experience on the use of various recipient sites for deep inferior epigastric perforator (DIEP) flap breast reconstruction and compare them by means of objective data. Two hundred fifty six DIEP flap breast reconstructions, performed between March 2004 and May 2011, were retrospectively analyzed. Only unilateral reconstructions were included in the study and divided into three groups depending on the recipient site choice: internal mammary vessels (IMV) (n = 52), thoracodorsal vessels (TDV) (n = 109), and circumflex scapular vessels (CSV) (n = 95). Clinical records of each patient were reviewed to acquire relevant data such as operative time, postoperative complications, and use of a second vein anastomosis. CSV group showed a statistically significant lower operative time (4.92 ± 0.54 hours) compared to TDV (5.67 ± 1.01 hours) and IMV groups (6.75 ± 1.09 hours) (P < 0.001). Second vein anastomosis was performed in 84 cases (88.1%) of CSV, in 85 cases (77.9%) of TDV, and in 18 cases (35.1%) of IMV groups (P < 0.001). No significant differences were observed among groups regarding risk factors and complications (P > 0.05). The axillary vessels seem to be the ideal recipient site because of reduced operative time and increased possibility to perform a second vein anastomosis. Among them, CSV can be safely used due to following advantages: easy dissection, larger vessel caliber, and optimal flap insetting. Moreover, their location does not expose them completely to radiotherapy consequences. © 2014 Wiley Periodicals, Inc. Microsurgery 35:34–38, 2015.     

Does clinical experience affect the reproducibility of cervical vertebrae maturation method?

Objective:To assess interobserver and intraobserver reproducibility of the cervical vertebrae maturation method (CVMM) among three panels of judges with different levels of orthodontic experience (OE).Materials and Methods:Fifty individual lateral cephalograms of good quality with complete visualization of cervical vertebrae 1 to 4 were selected. Thirty clinicians, divided according to their OE into three groups (junior group, JU, OE ≤ 1 year; postgraduate group, PG, 2 ≤ OE ≤ 4 years; specialist group, SP, OE ≥ 7 years), evaluated the cephalograms in two sessions (T₁ and T₂) at 3 weeks apart. Kendall''s W and weighted Cohen''s kappa (κ) coefficients were performed to assess interobserver and intraobserver agreement. The level of significance was set as P < .05. For both the interobserver and the intraobserver datasets, the percentage of perfect agreement (PPA) and the number of stages apart for each disagreement were calculated.Results:Kendall''s W at T₁ was SP  =  0.61, PG  =  0.70, and JU  =  0.87; at T₂ it was SP  =  0.78, PG  =  0.85, and JU  =  0.86. The percentage of total interobserver perfect agreement (Inter-PPA) was 42.3% at T₁ and 46.3% at T₂. The JU group had the highest Cohen''s κ coefficient at 0.78, while the PG and SP had coefficients of 0.64 each. The percentage of total intraobserver perfect agreement (Intra-PPA) was 54.2%.Conclusions:The reproducibility of the method was not improved by the level of orthodontic experience. The group with the lowest level of orthodontic experience had the best performance.     

Psychometric characteristics of the mutuality scale in heart failure patients and caregivers

Background

Higher patient-caregiver mutuality is associated with improved patient and caregiver outcomes, but no studies have tested the psychometric characteristics of the mutuality scale (MS) in heart failure (HF) patient and caregiver population.