Genodermatoses with malignant potential

PURPOSE OF REVIEW: The delineation of syndromes carrying a predisposition to malignancy has led to great insights into the molecular biology of malignancy. Many such syndromes have cutaneous findings which can precede the development of neoplasia. Early recognition of the cutaneous stigmata of the genodermatoses with malignant potential can lead to early diagnosis and initiation of proper screening and treatment when indicated. RECENT FINDINGS: This article reviews 'classic' genodermatoses with malignant potential and highlights recent recommendations for screening and treatment. Additionally more recently delineated syndromes and their cutaneous findings are discussed. SUMMARY: Certain inherited syndromes with a risk of neoplasia exhibit characteristic cutaneous findings. Recognition of these findings by the astute practitioner can lead to early intervention which can impact the course of these rare diseases.     

Fasting insulin and obesity-related phenotypes are linked to chromosome 2p: the Strong Heart Family Study

To localize quantitative trait loci for insulin metabolism and obesity, genome scans/linkage analyses were performed on >900 members of 32 extended families participating in phase 3 of the Strong Heart Study, an investigation of the genetic and environmental determinants of cardiovascular disease in American-Indian populations from Arizona, Oklahoma, and North and South Dakota. Linkage analyses of fasting insulin and two obesity-related phenotypes, BMI and percent fat mass, were performed independently in each of the three populations. For log fasting insulin, we found a genome-wide maximum, robust logarithm of odds (LOD) score of 3.42 at 51 cM on chromosome 2p in the Dakotas. Bivariate linkage analyses of log fasting insulin with both BMI and fat mass indicate a situation of incomplete pleiotropy, as well as several significant bivariate LOD scores in the Dakotas.     

Magnetic resonance imaging compatibility and safety of the SOUNDTEC Direct System

OBJECTIVE/HYPOTHESIS: The purpose of this study was to evaluate magnetic resonance imaging (MRI) compatibility and safety of an electromagnetic implanted hearing device (the SOUNDTEC Direct System; SOUNDTEC, Inc., Oklahoma City, OK) implant during a 0.3-Tesla open MRI imaging examination of the head and neck and to develop an MRI protocol that maximizes patient safety while minimizing the need for implant removal. The current literature regarding MRI compatibility of implantable hearing devices was reviewed. STUDY DESIGN: Linear and torsional forces, heating, and implant magnetization were evaluated in vitro. Implanted fresh-frozen human temporal bones were used to evaluate image distortion. A prospective study of 11 volunteers previously implanted with the SOUNDTEC Direct System was conducted to evaluate MRI compatibility and safety. A MEDLINE search of the literature between 1980 and July 2005 was reviewed to summarize MRI compatibility testing of implantable hearing devices. METHODS: Torsional and linear forces experienced by eight implant magnets were measured using calibrated neurologic Von Frey Hairs and compared with finite element analysis predictions as well as forces required to separate the incudostapedial joints of 12 fresh-frozen human temporal bones. Implant heating was determined by measuring the temperature change of eight implant vials compared with saline controls immediately after a head MRI scan. Implant magnetization was evaluated after repeated exposure to a 0.3-Tesla magnetic field. An 11-patient prospective study was performed to evaluate MRI compatibility in a 0.3-Tesla open MRI environment using adult volunteers previously implanted with the SOUNDTEC Direct System. A modified MRI protocol was developed to maximize patient safety. Each individual underwent an audiometric and otologic examination immediately before and after MRI. RESULTS: Peak linear force at the MRI entry measured 0.5 g +/- 0.2 standard deviation (SD). Maximum torque occurred at isocenter and measured 11.4 g-cm +/- 1.2 SD. The mean torque required to separate the incudostapedial joint was 33.8 g-cm +/- 20.4 SD. The average increase in temperature of the eight implant vials was 0.45 degrees C +/- 0.11 SD, whereas the increase in temperature of the three saline controls measured 0.47 degrees C +/- 0.11 SD. The average change in magnetic flux density of the 14 implant magnets tested was 22.0 gauss. Maximum image distortion occurred during the gradient echo sequence and measured 8.6 cm in diameter with a volume of 5,096 mm. Eleven patients completed a total of 12 head, one shoulder, and three lumbar 0.3-Tesla open MRI scans without patient- or device-related complications other than degradation of the MR image. There was no report of discomfort, tinnitus, dizziness, change in hearing, or change in device performance. All post-MRI changes in pure-tone thresholds, speech discrimination, soundfield thresholds, and aided soundfield thresholds were within the range of test-retest variability. CONCLUSION: When considering MRI of implantable ferromagnetic hearing devices, issues related to mechanical forces, implant heating, current induction, implant demagnetization, image degradation, and acoustic trauma must be considered. The SOUNDTEC Direct System is both MRI-compatible and safe in a 0.3-Tesla open MRI environment when a modified protocol is used. Degradation of the head MRI image may impair visualization of the ipsilateral temporal bone and adjacent structures within a 2.5- to 4.3-cm radius of the implant and is minimized by using a fast spin echo sequence.     

Associations of weight change and weight variability with cardiovascular and all-cause mortality in the Chicago Western Electric Company Study

Few studies of associations between weight loss or weight fluctuations and mortality have been sufficiently long term to permit exclusion of early deaths for a portion of follow-up long enough to eliminate likely effects of illness-related weight loss. This study examined associations of the variation (standard deviation and standard deviation about the trend (slope)) and trend (weight loss or weight gain) in body mass index (weight (kg)/height (m2) between 1958 and 1966 (minimum of five measurements) with subsequent 25-year mortality among 1,281 men originally aged 40-56 years from the Chicago Western Electric Company Study. In multivariate Cox regression models that included two slope variables representing weight loss and weight gain and each variability measure separately, weight loss and weight gain were significantly related to 15-year mortality but weight variability was not. Relative risks for cardiovascular disease mortality were 1.25 (95% confidence interval (CI): 1.09, 1.45) and 1.14 (95% CI: 0.97, 1.33), respectively, for weight loss and weight gain slopes larger by 0.12 kg/m2 per year; corresponding relative risks for all-cause mortality were 1.23 (95% CI: 1.10, 1.38) and 1.15 (95% CI: 1.03, 1.29), respectively. For follow-up years 16-25, none of these weight variables were significantly related to mortality. These results indicate that an association between weight loss and mortality may not persist beyond 15 years, and that weight variability may not be related to mortality independently of weight loss or weight gain.