Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.

PURPOSE: To describe the detailed phenotype, long-term clinical course, clinical variability, and genotype of patients with enhanced S-cone syndrome (ESCS). DESIGN: Retrospective case series. PARTICIPANTS: Fifty-six patients with ESCS. METHODS: Clinical history, examination, imaging, and electrophysiologic findings of 56 patients (age range, 1-75 years) diagnosed with ESCS were reviewed. Diagnosis was established by molecular confirmation of disease-causing variants in the NR2E3 gene (n = 38) or by diagnostic full-field electroretinography findings (n = 18). MAIN OUTCOME MEASURES: Age at onset of visual symptoms, best-corrected visual acuity (BCVA), quantitative age-related electrophysiologic decline, and imaging findings. RESULTS: Mean age at onset of visual symptoms was 4.0 years, and median age at presentation was 20.5 years, with mean follow-up interval being 6.1 years. Six patients were assessed once. Disease-causing variants in NR2E3 were identified in 38 patients. Mean BCVA of the better-seeing eye was 0.32 logarithm of the minimum angle of resolution (logMAR) at baseline and 0.39 logMAR at follow-up. In most eyes (76% [76/100]), BCVA remained stable, with a mean BCVA change of 0.07 logMAR during follow-up. Nyctalopia was the most common initial symptom, reported in 92.9% of patients (52/56). Clinical findings were highly variable and included foveomacular schisis (41.1% [26/56]), yellow-white dots (57.1% [32/56]), nummular pigmentation (85.7% [48/56]), torpedo-like lesions (10.7% [6/56]), and circumferential subretinal fibrosis (7.1% [4/56]). Macular and peripheral patterns of autofluorescence were classified as (1) minimal change, (2) hypoautofluorescent (mild diffuse, moderate speckled, moderate diffuse, or advanced), or (3) hyperautofluorescent flecks. One patient showed undetectable electroretinography findings; quantification of main electroretinography components in all other patients revealed amplitude and peak time variability but with pathognomonic electroretinography features. The main electroretinography components showed evidence of age-related worsening over 6.7 decades, at a rate indistinguishable from that seen in unaffected control participants. Eighteen sequence variants in NR2E3 were identified, including 4 novel missense changes. CONCLUSIONS: Enhanced S-cone syndrome has a highly variable phenotype with relative clinical and imaging stability over time. Most electroretinography findings have pathognomonic features, but quantitative assessment reveals variability and a normal mean rate of age-related decline, consistent with largely nonprogressive peripheral retinal dysfunction.

Projected growth in pharmacy education and research, 2010 to 2015.

OBJECTIVES: To determine projected growth in pharmacy education and research from 2010 to 2015 and to relate findings to external and internal factors. METHODS: An e-mail survey instrument was sent to all US pharmacy deans, and responses were used to estimate growth in the number of first-professional-degree doctor of pharmacy (PharmD) graduates, residents/fellows, graduate students, faculty members, graduate research faculty members, and postdoctoral fellows. Results were related to the national economy, trends in faculty vacancies, growth trends in other health professions, pharmacist roles, and healthcare reform. RESULTS: Five-year growth projections were: 58% increase in the number of residents/fellows, 23% in postdoctoral fellows, 21% in entry-level PharmD graduates, 19% in graduate/research faculty members, 17% in graduate students, and 13% in total pharmacy faculty members. Residencies/fellowships showed the highest projected growth rates (58%). Graduate education and research data suggest a growing research enterprise. Faculty vacancy trends were downward and this suggests better faculty availability in coming years. CONCLUSIONS: Substantial growth is expected from 2010 to 2015 in all areas of pharmacy education. External factors and how well the profession is able to demonstrate its contribution to resolving healthcare problems may influence the actual growth rates achieved.

Pharmacy faculty workplace issues: findings from the 2009-2010 COD-COF Joint Task Force on Faculty Workforce.

Many factors contribute to the vitality of an individual faculty member, a department, and an entire academic organization. Some of the relationships among these factors are well understood, but many questions remain unanswered. The Joint Task Force on Faculty Workforce examined the literature on faculty workforce issues, including the work of previous task forces charged by the American Association of Colleges of Pharmacy (AACP). We identified and focused on 4 unique but interrelated concepts: organizational culture/climate, role of the department chair, faculty recruitment and retention, and mentoring. Among all 4 resides the need to consider issues of intergenerational, intercultural, and gender dynamics. This paper reports the findings of the task force and proffers specific recommendations to AACP and to colleges and schools of pharmacy.

Isoniazid release from suppositories compounded with selected bases.

There is an increasing need for an alternative route of isoniazid adminstration for prophylaxis and treatment of tuberculosis in children. The purpose of this study is to evaluate the in vitro release of isoniazid from extemporaneously compounded isoniazid suppositories with a goal of optimizing the suppository dosage form for this indication. Suppositories were compounded using three different base formulations (cocoa butter, Witepsol H15 Base F, and a combination of polyethylene glycols 3350, 1000, and 400). The release profiles of six compounded suppositories with isoniazid (100 mg) were tested with a United States Pharmacopeial Convention-approved dissolution apparatus. Isoniazid concentrations at predetermined time points were determined using high-performance liquid chromatographic analysis. The results show that drug release from the water-solutble base (mixed polyethylene glycols) was significantly greater than that from the lipophilic bases (cocoa butter and Witepsol H15). The percentage of isoniazid release form the polyethylene glycol suppository formulation (70 +/- 1.4 mg/mL) was greater than that from the cocoa butter (55 +/- 1.1 mg/mL) and Witepsol H15 Base F (18 +/- 0.36 mg/mL) suppository formulations.

A quantitative assessment of a medicinal chemistry problem-based learning sequence.

OBJECTIVES: To establish an aggressive problem-based learning (PBL) format for the medicinal chemistry course and assess the outcomes of student learning. METHODS: To assess learning in the new format, precourse and postcourse examinations were given to students enrolled before and after problem-based learning was implemented, and appropriate statistical analyses were conducted. RESULTS: The PBL cohort did not learn the same amount of factual content yet performed the same on higher-order thought questions as the non-PBL cohort. CONCLUSIONS: Problem-based learning may not be the ideal method for teaching medicinal chemistry. This may be due to several factors including: student learning type, the lack of a cognitive framework for learning in the basic sciences, and time constraints.