Assessment of bulbar function in amyotrophic lateral sclerosis: validation of a self-report scale (Center for Neurologic Study Bulbar Function Scale).

BACKGROUND AND PURPOSE: Impaired bulbar functions of speech and swallowing are among the most serious consequences of amyotrophic lateral sclerosis (ALS). Despite this, clinical trials in ALS have rarely emphasized bulbar function as an endpoint. The rater-administered Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) or various quality-of-life measures are commonly used to measure symptomatic benefit. Accordingly, we sought to evaluate the utility of measures specific to bulbar function in ALS. METHODS: We assessed bulbar functions in 120 patients with ALS, with clinicians first making direct observations of the degree of speech, swallowing and salivation impairment in these subjects. Clinical diagnosis of bulbar impairment was then compared with ALSFRS-R scores, speech rate, time to swallow liquids and solids, and scores obtained when patients completed visual analog scales (VASs) and the newly-developed 21-question self-administered Center for Neurologic Study Bulbar Function Scale (CNS-BFS). RESULTS: The CNS-BFS, ALSFRS-R, VAS and timed speech and swallowing were all concordant with clinician diagnosis. The self-report CNS-BFS and ALSFRS-R bulbar subscale best predicted clinician diagnosis with misclassification rates of 8% and 14% at the optimal cut-offs, respectively. In addition, the CNS-BFS speech and swallowing subscales outperformed both the bulbar component of the ALSFRS-R and speech and swallowing VASs when correlations were made between these scales and objective measures of timed reading and swallowing. CONCLUSIONS: Based on these findings and its relative ease of administration, we conclude that the CNS-BFS is a useful metric for assessing bulbar function in patients with ALS.

Applicants' Self-Reported Priorities in Selecting a Residency Program.

BACKGROUND: Residency recruitment is a high-stakes activity for all participants, yet there is limited information about how applicants choose among programs. OBJECTIVE: This study evaluated the importance applicants place on various residency program attributes; whether applicant priorities vary by sex, race/ethnicity, or specialty choice; and whether the importance of these factors changes over time. METHODS: Highly ranked applicants to residency programs at 2 academic medical centers were surveyed annually from 2004 to 2012 regarding the importance of 26 characteristics in selecting a program. Mean ratings of importance for each factor were analyzed to assess priority for the overall applicant group, and whether priorities differed for subgroups (by sex, race/ethnicity, and specialty). RESULTS: Of 9669 applicants surveyed, 6285 (65%) responded. The 5 factors with highest rating of importance (overall and across all subgroups) were the program's ability to prepare residents for future training or position, resident esprit de corps, faculty availability and involvement in teaching, depth and breadth of faculty, and variety of patients and clinical resources. Small but significant differences in the ratings of some factors by sex and/or specialty group were identified. Institution-level characteristics, such as call rooms, salary, and benefits, were relatively unimportant. Applicant priorities were stable over the 9-year study period. CONCLUSIONS: Highly ranked applicants to competitive residency programs value educational aspects of the program most highly, along with resident morale. Top factors were consistent across subgroups and over the 9 years of the study. These findings have implications for resident recruitment strategies.

Validation of the functional assessment of chronic illness therapy-fatigue (FACIT-F) in patients with inflammatory bowel disease.

BACKGROUND Many patients with ulcerative colitis (UC) and Crohn's disease (CD) complain of significant fatigue. To date, no instrument to measure fatigue has been validated in a US inflammatory bowel disease (IBD) population. AIM To determine the reliability and validity of the Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F) scale in IBD. METHODS A total of 209 patients with IBD completed the 13 items of the FACIT-F, alongside laboratory testing and disease activity assessment. Internal consistency was measured by Cronbach's alpha; test-retest reliability by the intraclass correlation coefficient (ICC); validity by the correlation of the FACIT-F score with C-reactive protein (CRP) erythrocyte sedimentation rate (ESR), haematocrit (HCT) and disease activity as measured by the Harvey-Bradshaw Index (HBI; CD) and Simple Clinical Colitis Activity Index (SCCAI; UC). RESULTS The mean ± SD FACIT-F score was 38.9 ± 11.0 overall (CD 38.6 ± 11.3; UC 39.4 ± 10.6). Cronbach's alpha was 0.94. The ICC for first and repeat FACIT-F scores assessed within 180 days without change in disease state was 0.81 (CD 0.78; UC 0.87). FACIT-F scores were lower in patients with active symptoms (CD 4.6 points, 95% CI 2.4-6.9, P < 0.001; UC 8.5 points, 95% CI 5.5-11.4, P < 0.001). In UC, FACIT-F scores were correlated with ESR (-0.76, 95% CI -0.89 to -0.50), CRP (-0.72, 95% CI -0.88 to -0.43) and HCT (0.53, 95% CI 0.22-0.74). CONCLUSION The FACIT-F scale is a reliable and valid instrument for measuring fatigue in IBD.

Prevalence of fractures among the Thalassemia syndromes in North America.

Historically, fractures are cited as a frequent problem in patients with Thalassemia prior to optimization of transfusion and chelation regimens. The aim of this study was to determine the prevalence of fractures in a contemporary sample of North American patients with Thalassemia. The North American Thalassemia Clinical Research Network (TCRN) database registry was used to gather historical data on 702 patients with common alpha and beta-Thalassemia diagnoses including Thalassemia Major (TM), Intermedia (TI), E/Beta, homozygous alpha Thalassemia (AT), Hemoglobin H disease (HbH) and HbH with Constant Spring (HbH/CS), who consented to a medical record chart review. Bone mineral density (BMD) measurements by DXA were available for review in a subgroup of patients (n = 312). The overall fracture prevalence among all Thalassemia syndromes was 12.1%, equally distributed between females (11.5%) and males (12.7%). Fractures occurred more frequently in TM (16.6%) and TI (12.2%) compared to E/Beta (7.4%) and alpha (2.3%). Prevalence increased with age (2.5% ages 0-10 years, 7.4% ages 11-19 years, 23.2% ages >20 years) and with use of sex hormone replacement therapy (SHRT) (P < 0.01). On average, BMD Z and T scores were 0.85 SD lower among patients with a history of fractures (mean Z/T score -2.78 vs. -1.93, 95% CI for the difference -0.49 to -1.22 SD, P = 0.02). Presence of other endocrinopathies (i.e. hypothyroidism, hypoparathyroidism and diabetes mellitus), anthropometric parameters, heart disease or hepatitis C were not significant independent predictors of fractures. These data indicate that fractures remain a frequent complication among the aging patients with both TM and TI beta-Thalassemia. However, the fracture prevalence has improved compared to published reports from the 1960s to 1970s. In addition, children with Thalassemia appear to have low fracture rates compared to the general population.

Effects of acute cortisol and cocaine administration on attention, recall and recognition task performance in individuals with cocaine dependence.

This study investigated the effects of acute cocaine administration on cognition, and whether these can be modeled using exogenous hydrocortisone, because cocaine-induced cortisol elevations may influence its cognitive effects. Twelve cocaine-dependent individuals received an intravenous bolus of cortisol (0.5 or 0.2 mg/kg) and cocaine (0.2 mg/kg) in a double-blind randomized placebo-controlled and counterbalanced fashion. Cognitive testing included verbal tasks of vigilance attention, free recall and recognition memory before the boluses and at 20, 60 and 100 min thereafter. The statistical analysis investigated dose response effects while accounting for all sources of variance in the design. No effects of low dose cocaine were found on any variables. Low dose cortisol enhanced and high dose impaired vigilance attention, and a trend was found for the same dose response profile on twice-heard words. An opposite trend, inconsistent with prior research on cortisol and cognition, was observed for recognition: low dose impaired and high dose enhanced recognition of once-heard words, and a very weak trend was found for recognition of new words. These findings, though tempered by design limitations, suggest a complex non-linear cortisol attention/recognition dose-response relationship and call for further research to elucidate cortisol's effects on cognition and their role in the pathophysiology of cocaine dependence.

Silent infarction as a risk factor for overt stroke in children with sickle cell anemia: a report from the Cooperative Study of Sickle Cell Disease.

OBJECTIVE: To determine whether children with homozygous sickle cell anemia (SCD) who have silent infarcts on magnetic resonance imaging (MRI) of the brain are at increased risk for overt stroke. METHODS: We selected patients with homozygous SCD who (1) enrolled in the Cooperative Study of Sickle Cell Disease (CSSCD) before age 6 months, (2) had at least 1 study-mandated brain MRI at age 6 years or older, and (3) had no overt stroke before a first MRI. MRI results and clinical and laboratory parameters were tested as predictors of stroke. RESULTS: Among 248 eligible patients, mean age at first MRI was 8.3 +/- 1.9 years, and mean follow-up after baseline MRI was 5.2 +/- 2.2 years. Five (8.1%) of 62 patients with silent infarct had strokes compared with 1 (0.5%) of 186 patients without prior silent infarct; incidence per 100 patient-years of follow-up was increased 14-fold (1.45 per 100 patient-years vs 0.11 per 100 patient-years, P =.006). Of several clinical and laboratory parameters examined, silent infarct was the strongest independent predictor of stroke (hazard ratio = 7.2, P =.027). CONCLUSIONS: Silent infarct identified at age 6 years or older is associated with increased stroke risk.