Online Lifestyle Modification Intervention: Survey of Primary Care Providers' Attitudes and Views.

BACKGROUND: Online tools are a convenient and effective method of delivering lifestyle interventions to obese adult primary care patients. A referral model allows physicians to efficiently direct their patients to the intervention during a primary care visit. However, little is known of physicians' perspectives and utilization of the referral model for an online lifestyle modification intervention. OBJECTIVE: The aim was to evaluate the response of primary care providers (PCPs) to a referral model for implementing a year-long online intervention for weight loss to obese adult patients. METHODS: The PCPs at six primary care clinics were asked to refer adult obese patients to a year-long online lifestyle intervention providing self-management support for weight loss. Following the 1-year intervention, all providers at the participating practices were surveyed regarding their views of the program. Respondents completed survey items assessing their attitudes regarding the 1-year intensive weight loss intervention and identifying resources they would find helpful for assisting patients with weight loss. Referring physicians were asked about their level of satisfaction with implementing the counseling services using standard electronic health record referral processes. Attitudes toward obesity counseling among referring and nonreferring providers were compared. Impressions of how smoothly the referral model of obesity treatment integrated with the clinical workflow were also quantified. RESULTS: Of the 67 providers who completed the surveys, nonreferring providers (n=17) were more likely to prefer counseling themselves (P=.04) and to report having sufficient time to do so (P=.03) than referring providers (n=50) were. Nonreferring providers were more likely to report that their patients lacked computer skills (76%, 13/17 vs 34%, 17/50) or had less access to the Internet (65%, 11/17 vs 32%, 16/50). CONCLUSIONS: Understanding providers' views and barriers regarding the integration of online tools will facilitate widespread implementation of an online lifestyle modification intervention.

Overweight and obesity in patients with cystic fibrosis: a center-based analysis.

OBJECTIVE: Cystic fibrosis (CF) has long been associated with malnutrition. However, due to early diagnosis, nutritional supplements, and increased prevalence of obesity in the general population, overweight, and obesity in the CF patient population is becoming a concern. The aim of this study was to determine the prevalence of obesity and overweight in patients with CF seen at our center, to analyze factors associated with nutritional status, to evaluate the relation between nutritional status and lung function, and to document any adverse health outcomes. METHODS: The CF Patient Registry was queried for patients aged 2-18 who were seen at our center between June 2011 and June 2012. Nutritional statuses of patients were classified in accordance with the CF Foundation guidelines. Analysis of variance was utilized to analyze the differences in lung function between the five weight status groups. RESULTS: Of the 226 patients with CF aged 2-18 years, 129 (57%) had a BMI percentile consistent with a healthy weight status, 16 (7%) were in nutritional failure, 28 (12%) were at risk of nutritional failure, 35 (15%) were overweight, and 18 (8%) were obese. Based on fecal elastase levels, 50% of the overweight patients and 20% of the obese patients were pancreatic insufficient. FEV1 % predicted was lowest in patients with nutritional failure (P = 0.005). No significant differences were noted between the other four weight groups. In our obese and overweight population, three patients have impaired glucose tolerance, one has CF-related diabetes (CFRD) with fasting hyperglycemia, three have hypertension, and one has obstructive sleep apnea (OSA). CONCLUSIONS: The prevalence of overweight and obesity in our CF center is noteworthy, and a significant number of the patients were pancreatic insufficient. In our patient population, overweight, and obesity were not associated with further improvement of lung function. Nutritional approaches need to address the adverse outcomes of overweight and obesity.

Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia.

CONTEXT: Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens. OBJECTIVE: The aim of the study was to describe clinical characteristics of a large cohort of pediatric and adult CAH patients. DESIGN AND SETTING: We conducted a cross-sectional study of 244 CAH patients [183 classic, 61 nonclassic (NC)] included in a Natural History Study at the National Institutes of Health. MAIN OUTCOME MEASURE(S): Outcome variables of interest were height sd score, obesity, hypertensive blood pressure (BP), insulin resistance, metabolic syndrome, bone mineral density, hirsutism (females), and testicular adrenal rest (TART). RESULTS: The majority had elevated or suppressed androgens, with varied treatment regimens. Mean adult height SD score was -1.0 ± 1.1 for classic vs. -0.4 ± 0.9 for NC patients (P = 0.015). Obesity was present in approximately one third of patients, across phenotypes. Elevated BP was more common in classic than NC patients (P ≤ 0.01); pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001). Insulin resistance was common in classic children (27%) and adults (38% classic, 20% NC); 18% of adults had metabolic syndrome. The majority (61%) had low vitamin D; 37% of adults had low bone mineral density. Hirsutism was common (32% classic; 59% NC women). TART was found in classic males (33% boys; 44% men). CONCLUSIONS: Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments. Routine monitoring of classic children should include measuring BP and plasma renin activity. Osteoporosis prophylaxis and TART screening should begin during childhood. A longitudinal study is under way.

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

BACKGROUND: Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. STUDY OBJECTIVE: The objective of the study was to describe comprehensive CYP21A2 mutation analysis in a large cohort of CAH patients. METHODS: Targeted CYP21A2 mutation analysis was performed in 213 patients and 232 parents from 182 unrelated families. Complete exons of CYP21A2 were sequenced in patients in whom positive mutations were not identified by targeted mutation analysis. Copy number variation and deletions were determined using Southern blot analysis and PCR methods. Genotype was correlated with phenotype. RESULTS: In our heterogeneous U.S. cohort, targeted CYP21A2 mutation analysis did not identify mutations on one allele in 19 probands (10.4%). Sequencing identified six novel mutations (p.Gln262fs, IVS8+1G>A, IVS9-1G>A, p.R408H, p.Gly424fs, p.R426P) and nine previously reported rare mutations. The majority of patients (79%) were compound heterozygotes and 69% of nonclassic (NC) patients were compound heterozygous for a classic and a NC mutation. Duplicated CYP21A2 haplotypes, de novo mutations and uniparental disomy were present in 2.7% of probands and 1.9 and 0.9% of patients from informative families, respectively. Genotype accurately predicted phenotype in 90.5, 85.1, and 97.8% of patients with salt-wasting, simple virilizing, and NC mutations, respectively. CONCLUSIONS: Extensive genetic analysis beyond targeted CYP21A2 mutational detection is often required to accurately determine genotype in patients with CAH due to the high frequency of complex genetic variation.