Patients with superior canal dehiscence (SCD) syndrome experience vertigo and oscillopsia in response to loud sounds and to stimuli that result in changes in middle ear or intracranial pressure. They may also experience hyperacusis to bone‐conducted sounds. The evoked eye movements in this syndrome align with the plane of the dehiscent superior canal. The symptoms and signs can be understood in terms of the effect of the dehiscence in creation of a third mobile window into the inner ear. The SCD syndrome has been diagnosed in 28 patients who were examined in the neuro‐otology clinics at the Johns Hopkins Medical Institutions from May 1995 through January 2001. The diagnosis is best established based upon the symptoms that are characteristic for the syndrome, the vertical‐torsional eye movements evoked by sound or pressure stimuli noted on examination performed with Frenzel goggles, the lowered thresholds for responses to vestibular‐evoked myogenic potentials, and CT imaging of the temporal bones.
Objectives/Hypothesis Develop a standardized letter of recommendation (SLOR) for otolaryngology residency application that investigates the qualities desired in residents and letter writer’s experience. Compare this SLOR to narrative letters of recommendation (NLOR). Study Design Prospective SLOR/NLOR Comparison. Methods The SLOR was sent to a NLOR writer for each applicant. The applicant’s NLOR/SLOR pair was blinded and ranked in seven categories by three reviewers. Inter-rater reliability and NLOR/SLOR rankings were compared. Means of cumulative NLOR and SLOR scores were compared to our departmental rank list. Results Thirty-one SLORs (66%) were collected. The SLORs had higher inter-rater reliability for applicant’s qualifications for otolaryngology, global assessment, summary statement, and overall letter ranking. Writer’s background, comparison to contemporaries/predecessors, and letter review ease had higher inter-rater reliability on the NLORs. Mean SLOR rankings were higher for writer’s background (p=0.0007), comparison of applicant to contemporaries/predecessors (p=0.0031), and letter review ease (p<0.0001). Mean SLOR writing time was 4.17±2.18 minutes. Mean ranking time was significantly lower (p<0.0001) for the SLORs (39.24±23.45 seconds) compared to the NLORs (70.95±40.14 seconds). Means of cumulative SLOR scores correlated with our rank list (p=0.004), whereas means of cumulative NLOR scores did not (p=0.18). Means of cumulative NLOR and SLOR scores did not correlate (p=0.26). Conclusions SLORs require little writing time, save reviewing time, and are easier to review compared to NLORs. Our SLOR had higher inter-rater reliability in 4 of 7 categories and was correlated with our rank list. This tool conveys standardized information in an efficient manner.
Non-secretor status due to homozygosity for the common FUT2 variant c.461G>A (p.Trp154*) is associated with either risk for autoimmune diseases or protection against viral diarrhea and HIV. We determined the role of FUT2 in otitis media susceptibility by obtaining DNA samples from 609 multi-ethnic families and simplex case subjects with otitis media. Exome and Sanger sequencing, linkage analysis, and Fisher exact and transmission disequilibrium tests (TDT) were performed. The common FUT2 c.604C>T (p.Arg202*) variant co-segregates with otitis media in a Filipino pedigree (LOD ¼ 4.0). Additionally, a rare variant, c.412C>T (p.Arg138Cys), is associated with recurrent/chronic otitis media in European-American children (p ¼ 1.2 3 10 À5) and US trios (TDT p ¼ 0.01). The c.461G>A (p.Trp154*) variant was also overtransmitted in US trios (TDT p ¼ 0.01) and was associated with shifts in middle ear microbiota composition (PERMANOVA p < 10 À7) and increased biodiversity. When all missense and nonsense variants identified in multi-ethnic US trios with CADD > 20 were combined, FUT2 variants were over-transmitted in trios (TDT p ¼ 0.001). Fut2 is transiently upregulated in mouse middle ear after inoculation with non-typeable Haemophilus influenzae. Four FUT2 variants-namely p.Ala104Val, p.Arg138Cys, p.Trp154*, and p.Arg202*-reduced A antigen in mutant-transfected COS-7 cells, while the nonsense variants also reduced FUT2 protein levels. Common and rare FUT2 variants confer susceptibility to otitis media, likely by modifying the middle ear microbiome through regulation of A antigen levels in epithelial cells. Our families demonstrate marked intra-familial genetic heterogeneity, suggesting that multiple combinations of common and rare variants plus environmental factors influence the individual otitis media phenotype as a complex trait.
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