Recent Publications by CFE Educators

Comparative genomic hybridization (CGH) arrays have significantly changed the approach to identifying genetic alterations causing intellectual disability and congenital anomalies. Several studies have described the microduplication of Xp22.31, involving the STS gene. In such reports characteristic features and pathogenicity of Xp22.31 duplications remains a subject of debate. Here we present a series of nine previously unreported individuals with Xp22.31 duplications, found through microarray analysis in the course of genetic workup for developmental delay, associated with a combination of talipes anomalies, seizures and/or feeding difficulties. The size of the Xp22.31 duplications ranged from 294 kb to 1.6 Mb. We show a comparison of the breakpoints, inheritance and clinical phenotype, and a review of the literature. This clinically detailed series of Xp22.31 duplication patients provides evidence that the Xp22.31 duplication contributes to a common phenotype.

OBJECTIVES

 Physicians need metacognitive skills including reflection and goal generation for effective lifelong learning (LLL). These skills are not readily assessed and may not correlate with cognitive skills. We examined early-career physicians' metacognition and relationships between metacognitive skills, cognitive skills, and orientation toward LLL.

METHODS

 Pediatric fellows at UCSF document career progress in annual Individual Development Plans (IDPs). To assess metacognitive skills, we scored narratives in IDPs with a Reflective Ability Rubric (RAR) and goal setting with a SMART Goal Rubric (SMART-GR: consists of global IDP score and four IDP domain subscores). To assess cognitive skills, we collected American Board of Pediatrics scores (ABP), and to measure orientation toward LLL, fellows completed the Jefferson Scale (JeffSPLL). We used Spearman's correlation to examine relationships between scores.

RESULTS

 About 57/66 (86%) fellows participated. Mean scores were: RAR 2.4 ± 1.3 (scale 0-6); SMART-GR global IDP 2.8 ± 1.0, (1-5); JeffSPLL 46.3 ± 3.9 (14-56); and ABP 559.4 ± 75.7. RAR scores correlated significantly with SMART-GR scores but metacognitive measures did not correlate with ABP scores.

CONCLUSIONS

 Our study suggests early-career physicians may have limited metacognitive skills; cognitive and metacognitive skills do not correlate; and orientation toward LLL does not predict metacognitive skills. Thus, we need improved methods to teach and assess metacognition.

Normal hearing requires exquisite cooperation between bony and sensorineural structures within the cochlea. For example, the inner ear secretes proteins such as osteoprotegrin (OPG) that can prevent cochlear bone remodeling. Accordingly, diseases that affect bone regulation can also result in hearing loss. Patients with fibrous dysplasia develop trabecular bone overgrowth resulting in hearing loss if the lesions affect the temporal bones. Unfortunately, the mechanisms responsible for this hearing loss, which could be sensorineural and/or conductive, remain unclear. In this study, we used a unique transgenic mouse model of increased Gs G-protein coupled receptor (GPCR) signaling induced by expression of an engineered receptor, Rs1, in osteoblastic cells. These ColI(2.3)+/Rs1+ mice showed dramatic bone lesions that histologically and radiologically resembled fibrous dysplasia. We found that ColI(2.3)+/Rs1+ mice showed progressive and severe conductive hearing loss. Ossicular chain impingement increased with the size and number of dysplastic lesions. While sensorineural structures were unaffected, ColI(2.3)+/Rs1+ cochleae had abnormally high osteoclast activity, together with elevated tartrate resistant acid phosphatase (TRAP) activity and receptor activator of nuclear factor kappa-B ligand (Rankl) mRNA expression. ColI(2.3)+/Rs1+ cochleae also showed decreased expression of Sclerostin (Sost), an antagonist of the Wnt signaling pathway that normally increases bone formation. The osteocyte canalicular networks of ColI(2.3)+/Rs1+ cochleae were disrupted and showed abnormal osteocyte morphology. The osteocytes in the ColI(2.3)+/Rs1+ cochleae showed increased expression of matrix metalloproteinase 13 (MMP-13) and TRAP, both of which can support osteocyte-mediated peri-lacunar remodeling. Thus, while the ossicular chain impingement is sufficient to account for the progressive hearing loss in fibrous dysplasia, the deregulation of bone remodeling extends to the cochlea as well. Our findings suggest that factors regulating bone remodeling, including peri-lacunar remodeling by osteocytes, may be useful targets for treating the bony overgrowths and hearing changes of fibrous dysplasia and other bony pathologies.

OBJECTIVE

To compare educational and vocational outcomes among adults with childhood-onset systemic lupus erythematosus (SLE) and adult-onset SLE.

METHODS

We used data derived from the 2002–2010 cycles of the Lupus Outcomes Study, a longitudinal cohort of 1,204 adult subjects with SLE. Subjects ages 18–60 years living in the US (n = 929) were included in the analysis and were classified as childhood-onset SLE if age at diagnosis was 18 years (n = 115). Logistic regression was used to assess the unadjusted and adjusted effect of childhood-onset SLE, sex, race/ethnicity, baseline age, urban or rural location, and US region on the likelihood of completing a bachelor's degree. Generalized estimating equations were used to assess the effect of childhood-onset SLE, demographics, education, and disease-related factors on the odds of employment, accounting for multiple observations over the study period.

RESULTS

Subjects with childhood-onset SLE were on average younger (mean ± SD 29 ± 10 years versus 44 ± 9 years), with longer disease duration (mean ± SD 15 ± 10 years versus 11 ± 8 years). Subjects with adult-onset SLE and childhood-onset SLE subjects were equally likely to complete a bachelor's degree. However, subjects with childhood-onset SLE were significantly less likely to be employed, independent of demographic and disease characteristics (odds ratio 0.62, 95% confidence interval 0.42–0.91).

CONCLUSION

While subjects with SLE are just as likely as those with adult-onset SLE to complete college education, childhood-onset SLE significantly increases the risk of not working in adulthood, even when controlling for disease and demographic factors. Exploring reasons for low rates of employment and providing vocational support may be important to maximize long-term functional outcomes in patients with childhood-onset SLE.

OBJECTIVE

To create a pediatric rheumatology Top 5 list as part of the American Board of Internal Medicine Foundation's Choosing Wisely campaign.

METHODS

Delphi surveys of a core group of representative pediatric rheumatology providers from across North America generated candidate Top 5 items. Items with high content agreement and perceived to be of prevalent use and of high impact were included in a survey of all American College of Rheumatology (ACR) members who identified themselves as providing care to pediatric patients. Items with the highest ratings were subjected to literature review and further evaluation.

RESULTS

A total of 121 candidate items were proposed in the initial Delphi survey and were reduced to 28 items in subsequent surveys. These 28 items were sent to 1,198 rheumatology providers who care for pediatric patients, and 397 (33%) responded. Based upon survey data and literature review, the Top 5 items were identified. These items focused on testing for antinuclear antibodies, autoantibody panels, Lyme disease, methotrexate toxicity monitoring, and use of routine radiographs.

CONCLUSION

The ACR pediatric rheumatology Top 5 is one of the first pediatric subspecialty-specific Choosing Wisely Top 5 lists and provides an opportunity for patients and providers to discuss appropriate use of health care in pediatric rheumatology.

BACKGROUND

After hospital discharge, patients are at risk for medication errors, missed test results, adverse events, and readmissions. Handoff communication between the inpatient and outpatient settings is primarily accomplished with the discharge summary. However, critical information can often be missing, such as the date of the first postdischarge follow-up visit, a complete and accurate list of discharge medications, and follow-up recommendations. There have been no studies focusing on identifying and implementing a parsimonious, clinically relevant, inpatient-to-outpatient discharge handoff tool within a fully integrated electronic medical record (EMR) system. A concise, written, electronic handoff communication tool was created to address this gap.

METHODS

Using inpatient and outpatient provider stakeholder input, a standard, succinct, and clinically relevant handoff tool was designed and implemented within the Veterans Affairs EMR. Retrospective chart review at 3 and 15 months after the handoff tool rollout in December 2010 was conducted to monitor handoff uptake and outcomes.

RESULTS

At 15 months after implementation, 86% (129/150) of patients had a completed handoff at the time of discharge. More handoff notes were available in the EMR within 24 hours of discharge than discharge summaries (100% versus 77%, p .0001). There was no difference between those patients with or without a handoff in the number of emergency department visits or readmissions.

DISCUSSION

A standardized clinically relevant discharge handoff tool had high user uptake and sustainability and improved timeliness of communication of information between the hospital and outpatient setting. Even within a fully integrated EMR system, simple and efficient handoffs between inpatient and outpatient providers may fulfill a communication gap at the time of discharge.

Urologists routinely deal with sensitive issues of urinary function as well as sexuality in daily practice. Even experienced urologists may encounter patients who engage in sexual practices that are novel, unknown, or perhaps disturbing to the provider. This primer will serve as an introduction to sexual practices and lifestyle choices that may be foreign to many practicing urologists. It is by no means an exhaustive description of alternative sexualities, but will hopefully serve as a useful introduction to the topic and will enhance the ability of providers to care for, or appropriately refer, patients whose sexual practices and lifestyles may differ from their own.

INTRODUCTION

A Case Control Etiology of Sarcoidosis Study (ACCESS) sarcoidosis organ assessment instrument has been used for more than a decade to establish uniform standards for the probability of sarcoidosis organ involvement. The ACCESS instrument has become increasingly outdated as new technologies have been developed. Furthermore, the ACCESS instrument failed to address all possible organs involved with sarcoidosis. For these reasons, the World Association of Sarcoidosis and Other Granulomatous Diseases (WASOG) developed a new sarcoidosis organ assessment instrument.

METHODS

Clinical sarcoidosis experts assessed various clinical manifestations for the probability of sarcoidosis organ involvement. Two criteria were required to apply this assessment: 1) histologic evidence of granulomatous inflammation of unknown cause in an organ that was not being assessed; 2) the clinical manifestation being addressed required that alternative causes other than sarcoidosis had been reasonably excluded. Clinical manifestations were assessed as either: a) highly probable: likelihood of sarcoidosis causing this manifestation of at least 90%.; b) probable: likelihood of sarcoidosis causing this manifestation of between 50 and 90%; c) possible: likelihood of sarcoidosis causing this manifestation of less than 50%. The sarcoidosis experts voted on the likelihood of sarcoidosis causing each manifestation using Delphi study methodology where at least 70% agreement of the experts was needed for consensus.

RESULTS

Various clinical manifestations were classified as highly probable, at least probable, possible, or indeterminate when no consensus could be reached.

CONCLUSION

An instrument was developed by expert opinion that may be useful for the clinician and researcher in establishing criteria for sarcoidosis organ involvement.