Citations

Objective: To present the unique case of a collegiate wrestler with C7 neurologic symptoms due to T1–T2 disc herniation. Background: A 23-year-old male collegiate wrestler injured his neck in a wrestling tournament match and experienced pain, weakness, and numbness in his left upper extremity. He completed that match and 1 additional match that day with mild symptoms. Evaluation by a certified athletic trainer 6 days postinjury showed radiculopathy in the C7 distribution of his left upper extremity. He was evaluated further by the team physician, a primary care physician, and a neurosurgeon. Differential Diagnosis: Cervical spine injury, stinger/burner, peripheral nerve injury, spinal cord injury, thoracic outlet syndrome, brachial plexus radiculopathy. Treatment: The patient initially underwent nonoperative management with ice, heat, massage, electrical stimulation, shortwave diathermy, and nonsteroidal anti-inflammatory drugs without symptom resolution. Cervical spine radiographs were negative for bony pathologic conditions. Magnetic resonance imaging showed evidence of T1–T2 disc herniation. The patient underwent surgery to resolve the symptoms and enable him to participate for the remainder of the wrestling season. Uniqueness: Whereas brachial plexus radiculopathy commonly is seen in collision sports, a postfixed brachial plexus in which the T2 nerve root has substantial contribution to the innervation of the upper extremity is a rare anatomic variation with which many health care providers are unfamiliar. Conclusions: The injury sustained by the wrestler appeared to be C7 radiculopathy due to a brachial plexus traction injury. However, it ultimately was diagnosed as radiculopathy due to a T1–T2 thoracic intervertebral disc herniation causing impingement of a postfixed brachial plexus and required surgical intervention. Athletic trainers and physicians need to be aware of the anatomic variations of the brachial plexus when evaluating and caring for patients with suspected brachial plexus radiculopathies.

AbstractMicrosporidia are opportunistic pathogens that usually cause a limited disease in the gastrointestinal tract. Occasionally, they can cause disseminated disease. In solid organ transplant recipients, disseminated disease has been reported only rarely. We describe a 68‐year‐old woman who presented with fever, cough, and acute kidney injury 6 months after kidney transplantation. Dissemination was confirmed by identification of microsporidial spores in urine and bronchoalveolar lavage fluid. Polymerase chain reaction analysis identified the species as Encephalitozoon cuniculi.

ABSTRACTVan der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for 1–2% of all patients with cleft lip and/or cleft palate. Van der Woude and popliteal pterygium syndromes are caused by mutations in IRF6, but phenotypic variability within and among families with either syndrome suggests that other genetic factors contribute to the phenotypes. The aim of this study was to identify common variants acting as genetic modifiers of IRF6 as well as genotype–phenotype correlations based on mutation type and location. We identified an association between mutations in the DNA‐binding domain of IRF6 and limb defects (including pterygia). Although we did not detect formally significant associations with the genes tested, borderline associations suggest several genes that could modify the VWS phenotype, including FOXE1, TGFB3, and TFAP2A. Some of these genes are hypothesized to be part of the IRF6 gene regulatory network and may suggest additional genes for future study when larger sample sizes are also available. We also show that families with the Van de Woude phenotype but in whom no mutations have been identified have a lower frequency of cleft lip, suggesting there may be locus and/or mutation class differences in Van de Woude syndrome. © 2013 Wiley Periodicals, Inc.

Background Although decision aids (DA) can help to communicate evidence to patients, their production is time consuming, often not based on the best available evidence or rapidly outdated. Linking trustworthy guidelines and DA for shared-decision making could both overcome these limitations and enhance guideline dissemination. Objectives To test the feasibility of automatically translating any recommendations from GRADE guidelines into generic and interactive DA accessible on tablet computers for clinicians and their patients in the clinical encounter. Methods As part of the DECIDE project, we developed a framework for translating components of GRADE into DA, following the International Patient Decision Aid Standards. Using a recently published guideline, we implemented that framework in our MAGIC (Making Grade the Irresistible Choice) application – a prototype electronic guideline tool and publication platform that can automatically display recommendations in multilayered presentation formats. Results Our prototype was able to automatically translate a large number of GRADE recommendations and their supporting evidence into electronic and interactive DA. Preliminary results of user-testing in real patient-clinician interactions suggest that these DA can be used at the point of care to discuss estimates of treatment effects for patient relevant outcomes, confidence in estimates, burden of treatment, and cost issues. Discussion This study provides a proof-of-concept that components of GRADE recommendations can be interactively displayed in generic tools for interactive shared-decision making in a wide range of treatment alternatives. Implications for Guideline Developers/Users Our electronic DA offer promising opportunities to disseminate guidelines at the point of care.

Background Traditionally patients are not involved in the development of clinical guidelines, and most current panels include only clinical and methodological experts. We therefore know little about what patients (or healthy lay people) would have recommended if they were provided with the same evidence as experts. Objectives Develop a prototype ‘Recommendation-making game’ which can be used for: (1) Exploring patients and lay people’s reasoning when facing the same evidence as an expert guideline panel; (2) assess whether they give similar value to the outcomes or burdens if the decision of making a recommendation for a patient group was up to them; (3) determine whether their recommendation concur with what they would have decided for themselves. Methods We used game technology to make a generic prototype of an online “Recommendation-making game”, based on structured guidelines published in the MAGIC (Making Grade the Irresistible Choice) application. This approach will enable us to automatically make online surveys out of any guideline/recommendation in the system. In making it into a game we believe people would want to participate, and we can potentially harvest information from a large group of people. The game can also be used in small focus groups for qualitative data collection. Results We will display the prototype at the conference. Discussion Does clinical experts reasoning effects that of patient representatives in a guideline panel? Implications for Guideline Developers/Users GAME-IT explores a new way of harvesting information from patients (or healthy lay people) regarding treatment recommendations.

Background In 2005, the Endocrine Society (TES) adopted the GRADE system of developing clinical practice guidelines. This system facilitates the formulation of evidence-based recommendations by explicitly describing the confidence in estimates (quality of evidence) and strength of each recommendation. Objectives To describe and characterise the relationship between confidence in estimates and strength of recommendation in TES guidelines. Methods We included all published TES guidelines between 2005 (when TES started using GRADE) and 2011. Independently and in duplicate, reviewers extracted, for each recommendation: disease area, confidence in estimates and design of the studies considered, and strength of recommendation. In strong recommendations with low quality of we developed and applied a taxonomy of appropriate recommendations and identified those we considered inappropriate. Results Most of the 357 recommendations issued were supported by evidence warranting low or very low confidence in estimates (256, 72%). Evidence cited in support of these recommendations came exclusively from observational studies in 233 recommendations (65%). Most recommendations were strong (206, 58%); of these, 121 (59%) were supported by evidence warranting low or very low confidence in estimates. In 101/121 (83%), we identified a compelling rationale for the recommendations; in 20 (17%), we did not. Conclusions Most TES strong recommendation based on low quality evidence are justified and appropriate, but a substantial proportion are not. Implications for Guideline Developers Guideline developers should carefully justify any strong recommendations based on low confidence in effect estimates.