Ultrasound examination of the hand

Twenty-five surgically confirmed soft-tissue lesions of the hand were examined prospectively by real-time ultrasound. Use of sonography enabled a reliable diagnosis of the cystic or solid nature of soft-tissue lesions, an accurate estimation of the volume, and precise three-dimensional localization of the abnormality. Sonography also facilitated the location of foreign bodies. Assessment of anatomic relationships of these lesions to tendons and surrounding structures by real-time sonography during palpation, flexion, and/or extension also aided in the surgical approach.     

A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies

PURPOSE: To characterize clinically and genetically a four-generation Italian family with autosomal dominant retinal dystrophy. METHODS: Thirty-seven family members underwent a detailed ophthalmologic investigation, comprising visual acuity determination, fundoscopy, electroretinogram, and electrooculogram. A genome-wide scan was performed, and three candidate genes mapping to the linked region were screened for mutations by direct sequencing. RESULTS: Nineteen individuals were affected by cone-rod dystrophy and four by cone dystrophy, whereas, in another subject, the diagnosis was compatible with central areolar choroidal dystrophy. The genome-wide search allowed mapping the disease locus to chromosome 6, region p12.2-p21.1, with a maximum lod score of 6.71. Analysis of key recombinants in affected individuals placed the locus to a 12-Mb region flanked by newly generated markers 6-41025 and 6-52969. Assuming complete penetrance, recombinations in two healthy individuals defined a smaller critical region of 3.7 Mb between markers 6-42153 and D6S459. Three genes mapping within the linked interval (RDS, GUCA1A, and GUCA1B) were considered excellent candidates because of their involvement in distinct forms of retinal dystrophies. However, mutation analyses of these genes failed to identify pathogenetic mutations. CONCLUSIONS: The significant lod scores obtained and the absence of mutations in RDS, GUCA1A, and GUCA1B support the existence of a novel, yet unidentified gene responsible for retinal dystrophy within the chromosome 6 cluster.     

Benefits of modest weight loss in improving cardiovascular risk factors in overweight and obese individuals with type 2 diabetes

OBJECTIVE

Overweight and obese individuals are encouraged to lose 5–10% of their body weight to improve cardiovascular disease (CVD) risk, but data supporting this recommendation are limited, particularly for individuals with type 2 diabetes.

RESEARCH DESIGN AND METHODS

We conducted an observational analysis of participants in the Look AHEAD (Action For Health in Diabetes) study (n = 5,145, 40.5% male, 37% from ethnic/racial minorities) and examined the association between the magnitude of weight loss and changes in CVD risk factors at 1 year and the odds of meeting predefined criteria for clinically significant improvements in risk factors in individuals with type 2 diabetes.

RESULTS

The magnitude of weight loss at 1 year was strongly (P < 0.0001) associated with improvements in glycemia, blood pressure, tryiglycerides, and HDL cholesterol but not with LDL cholesterol (P = 0.79). Compared with weight-stable participants, those who lost 5 to <10% ([means ± SD] 7.25 ± 2.1 kg) of their body weight had increased odds of achieving a 0.5% point reduction in HbA_1c (odds ratio 3.52 [95% CI 2.81–4.40]), a 5-mmHg decrease in diastolic blood pressure (1.48 [1.20–1.82]), a 5-mmHg decrease in systolic blood pressure (1.56 [1.27–1.91]), a 5 mg/dL increase in HDL cholesterol (1.69 [1.37–2.07]), and a 40 mg/dL decrease in triglycerides (2.20 [1.71–2.83]). The odds of clinically significant improvements in most risk factors were even greater in those who lost 10–15% of their body weight.

CONCLUSIONS

Modest weight losses of 5 to <10% were associated with significant improvements in CVD risk factors at 1 year, but larger weight losses had greater benefits.Overweight and obese individuals are frequently encouraged to lose 5–10% of their weight and are told that weight losses of that magnitude will help improve their cardiovascular disease (CVD) risk factors. For example, the Centers for Disease Control and Prevention website (www.cdc.gov/healthyweight/losing_weight/index.html) states, “The good news is that no matter what your weight loss goal is, even a modest weight loss, such as 5 to 10% of your total body weight, is likely to produce health benefits, such as improvements in blood pressure, blood cholesterol, and blood sugars.” The benefits of modest weight loss also are noted by the Surgeon General (www.surgeongeneral.gov/), the Institutes of Medicine (1), and the National Institutes of Health (e.g., www.nhlbi.nih.gov/ and www2.niddk.nih.gov/), with citations to a variety of reviews of the literature (2–4) and meta-analyses (5). For example, the statement from the Centers for Disease Control and Prevention website cites a review by Blackburn (6) for the benefits of 5% weight loss and the National Heart, Lung, and Blood Institute Clinical Guidelines (7) as the reference for the benefit of a 10% weight loss. However, the studies included in these reviews often had limited sample sizes, focused on nondiabetic individuals, and typically presented only average weight loss and the average reduction in risk factors, which did not allow a careful analysis of the association between specific magnitudes of weight loss and consequent improvements in CVD risk factors.Look AHEAD (Action for Health in Diabetes) provides a unique opportunity to carefully assess the effects of modest weight loss on CVD risk factors in individuals with type 2 diabetes, a population at high risk for CVD. Look AHEAD is a multicenter, randomized clinical trial examining the long-term effects of lifestyle interventions on cardiovascular morbidity and mortality in 5,145 overweight or obese participants with type 2 diabetes who were randomly assigned to intensive lifestyle intervention (ILI) or to usual care, referred to as diabetes support and education (DSE) (8,9). Differences between ILI and DSE at 1 year have been reported previously (9). In this article, we examine the associations between the magnitude of weight loss and the degree of improvement in glycemic control, blood pressure, and lipid levels at 1 year in the full cohort. We also determine the average risk factor change and the odds of meeting predefined criteria for clinically significant improvement in risk factors that are associated with specific categories of weight change. These analyses provide important data to address the recommendations regarding modest weight loss.     

The Relationship Between Birthweight and Early Age-Related Maculopathy: The Atherosclerosis Risk in Communities Study

Purpose: Birthweight is a marker of fetal growth, and has been linked to future risk of chronic diseases in adults. We examined the association between birthweight and age-related maculopathy (ARM). Methods: We studied 9730 adults from the population-based Atherosclerosis Risk in Communities study, of whom 4744 reported their exact birthweight and an additional 4986 provided categorical birthweight data (low, medium or high). We graded retinal photographs for presence of ARM using a modification of the Wisconsin ARM Grading System. Results: Early ARM was present in 479 (4.9%) adults. Among persons with exact birthweight data, there was no association between birthweight and early ARM (OR 1.1, 95% CI 0.9–1.3, for each kg increase in birthweight). However, in Whites, greater birthweight was associated with an increased risk of early ARM (OR 1.2, 95% CI 1.0–1.4, for each kilogram increase in birthweight), after adjustment for age, sex, smoking, blood pressure and education level. In analyses including additional participants who provided categorical birthweight data, the pattern of associations were similar but not statistically significant. We did not have sufficient numbers to examine associations for late ARM (n = 12) or in African-Americans separately. Conclusions: We found no association between birthweight and risk of early ARM in the whole population. Among the white participants, higher birthweight was associated with a slight increased risk of early ARM. These findings, if confirmed in other studies, suggest that fetal growth may be important in ARM development in white persons.     

Aortic correlates of clinical markers of large artery structure and function. Effects of aging and hypertension

BACKGROUND AND AIMS: Non-invasive measures of large artery structure and function--such as aorto-femoral pulse wave velocity (PWV), arterial compliance (AC) and common carotid intima-media thickness (CCA IMT)--can predict new CV events, independently of traditional CV risk factors. However, neither their relations with aorta properties nor the effects of aging and hypertension on those relations are yet clear. METHODS AND RESULTS: 40 subjects (18 M, 22 F; mean age 60+/-16 yrs, range 21-83 yrs) free of any acute CV event, valve disease or atrial fibrillation, were studied. Aortic IMT, diastolic diameter (D) and distensibility (Dist) were measured by transesophageal echocardiography at three different levels: ascending aorta (AA), distal aortic arch (Aarc) and descending aorta (DA). PWV was measured by Complior. AC was measured as the ratio of stroke volume to pulse pressure. CCA IMT was measured by ultrasonography in diastole. The Dist, IMT, and D of each aortic segment were introduced alternatively into the regression models. After controlling for age, sex, traditional risk factors and prevalent CV disease, AC showed a significant positive association with the distensibility of proximal aortic segments, but no significant association with properties of distal aorta; PWV showed a significant positive association with proximal aorta wall thickness and a negative association with distal aorta distensibility; CCA IMT was positively associated with distal aorta wall thickness, but not with any explored property of the proximal aorta. None of these relationships differed between younger or older, normotensive or hypertensive subjects. CONCLUSIONS: Non-invasive measures of large artery structure and function are not equivalent with respect to their relations with aortic properties, so that AC seems to reflect proximal aorta function, PWV proximal aorta structure and distal aorta function, and CCA IMT distal aorta structure. Future studies are needed to confirm whether these relations identify a common pathogenetic mechanism, which may be the target for new therapeutic strategies.