NIH disease funding levels and burden of disease.

BACKGROUND: An analysis of NIH funding in 1996 found that the strongest predictor of funding, disability-adjusted life-years (DALYs), explained only 39% of the variance in funding. In 1998, Congress requested that the Institute of Medicine (IOM) evaluate priority-setting criteria for NIH funding; the IOM recommended greater consideration of disease burden. We examined whether the association between current burden and funding has changed since that time. METHODS: We analyzed public data on 2006 NIH funding for 29 common conditions. Measures of US disease burden in 2004 were obtained from the World Health Organization's Global Burden of Disease study and national databases. We assessed the relationship between disease burden and NIH funding dollars in univariate and multivariable log-linear models that evaluated all measures of disease burden. Sensitivity analyses examined associations with future US burden, current and future measures of world disease burden, and a newly standardized NIH accounting method. RESULTS: In univariate and multivariable analyses, disease-specific NIH funding levels increased with burden of disease measured in DALYs (p = 0.001), which accounted for 33% of funding level variation. No other factor predicted funding in multivariable models. Conditions receiving the most funding greater than expected based on disease burden were AIDS ($2474 M), diabetes mellitus ($390 M), and perinatal conditions ($297 M). Depression ($719 M), injuries ($691 M), and chronic obstructive pulmonary disease ($613 M) were the most underfunded. Results were similar using estimates of future US burden, current and future world disease burden, and alternate NIH accounting methods. CONCLUSIONS: Current levels of NIH disease-specific research funding correlate modestly with US disease burden, and correlation has not improved in the last decade.

Heterogeneous patterns of tissue injury in NARP syndrome.

Point mutations at m.8993T>C and m.8993T>G of the mtDNA ATPase 6 gene cause the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome, a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. We performed detailed neurological, neuropsychological and ophthalmological phenotyping of a mother and four daughters with NARP syndrome from the mtDNA m.8993T>C ATPase 6 mutation, including 3-T brain MRI, spectral domain optical coherence tomography (SD-OCT), adaptive optics scanning laser ophthalmoscopy (AOSLO), electromyography and nerve conduction studies (EMG-NCS) and formal neuropsychological testing. The degree of mutant heteroplasmy for the m.8993T>C mutation was evaluated by real-time allele refractory mutation system quantitative PCR of mtDNA from hair bulbs (ectoderm) and blood leukocytes (mesoderm). There were marked phenotypic differences between family members, even between individuals with the greatest degrees of ectodermal and mesodermal heteroplasmy. 3-T MRI revealed cerebellar atrophy and cystic and cavitary T2 hyperintensities in the basal ganglia. SD-OCT demonstrated similarly heterogeneous areas of neuronal and axonal loss in inner and outer retinal layers. AOSLO showed increased cone spacing due to photoreceptor loss. EMG-NCS revealed varying degrees of length-dependent sensorimotor axonal polyneuropathy. On formal neuropsychological testing, there were varying deficits in processing speed, visual-spatial functioning and verbal fluency and high rates of severe depression. Many of these cognitive deficits likely localize to cerebellar and/or basal ganglia dysfunction. High-resolution retinal and brain imaging in NARP syndrome revealed analogous patterns of tissue injury characterized by heterogeneous areas of neuronal loss.

An intervention to teach medical students ankle reflex examination skills.

BACKGROUND: Methods of teaching neurologic examination skills are understudied compared with general physical examination skills. Eliciting an ankle reflex is an important element of a screening neurologic examination and directly drives further patient evaluation, but many students and physicians perceive this skill to be difficult; as a result, ankle reflex testing is frequently incorrectly performed or omitted entirely. METHODS: Twenty-two medical student volunteers of various levels of training took part in a blinded, randomized study of a brief intervention used to teach how best to elicit ankle reflexes. Standardized patients were used with quantification of ankle reflexes using electrodiagnostic techniques, providing an objective gold standard. RESULTS: Both the control and intervention groups improved over the course of the trial with mean change scores for correctness (maximum = 6) significantly increasing from 2.68 +/- 1.5 to 4.23 +/- 1.2 (P = 0.003) before and after the training sessions. However, there was no difference in change scores between students receiving the intervention and those in the control group in the entire cohort (P = 1.0) or by year. In a multivariate model, no significant difference in change score was associated with the intervention teaching session. CONCLUSIONS: Compared with the control session, the ankle reflex teaching intervention did not lead to significantly greater improvement in students' ability to master this difficult neurologic examination skill. This study demonstrates the feasibility of using a rigorous trial design to investigate methods of teaching students the neurologic examination. Further research is needed to define how best to teach these important skills.

Preparing fourth-year medical students to teach during internship.

Interns are expected to teach medical students, yet there is little formal training in medical school to prepare them for this role. To enhance the teaching skills of our graduating students we initiated a 4-hour "teaching to teach" course as part of the end of the fourth-year curriculum. Course evaluations demonstrate that students strongly support this program (overall ratings 2000 to 2005: mean=4.4 [scale 1 to 5], n=224). When 2004 course participants were surveyed during the last month of their internship, 84%"agree" or "strongly agree" with the statement: "The teaching to teach course helped prepare me for my role as a teacher during internship" (2005: mean 4.2 [scale 1 to 5], n=45, response rate 60%). A course preparing fourth-year students to teach during internship is both feasible and reproducible, with a minimal commitment of faculty and resident time. Participants identify it as an important addition to their education and as useful during internship.