New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.

BACKGROUND: Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. To date, the spectrum of radiological features observed in patients with OTX2 mutations has never been summarized. CASE PRESENTATION: In this report, we describe a case of large microdeletion encompassing OTX2 but not BMP4 presenting with a syndromic anophthalmia with corpus callosum hypoplasia, pituitary gland hypoplasia and vermian hypoplasia. CONCLUSION: Our case report provides an illustration of the neuroradiological spectrum in a case of OTX2-related syndrome and the first radiological evidence of 14q22.2q23.1 deletion associated posterior cranial fossa anomalies.

The EQ-5D: a new tool for studying clinical outcomes in chronic rhinosinusitis.

OBJECTIVES/HYPOTHESIS: To describe the role and applicability of the EuroQol 5-Dimension, 5-Level (EQ-5D-5L) questionnaire for the assessment of general health-related quality of life in patients with chronic rhinosinusitis. STUDY DESIGN: Prospective cohort study. METHODS: The EQ-5D-5L was administered to 462 patients with refractory chronic rhinosinusitis before and 3 months after sinus surgery. Preoperative and postoperative scores across each of five health dimensions were analyzed and the results compared to those obtained from two widely used chronic rhinosinusitis outcomes instruments: the Chronic Sinusitis Survey (CSS) and SinoNasal Outcomes Test-22 (SNOT-22). RESULTS: Three hundred and fifty patients completed the five questions and visual analog scale (VAS) of the EQ-5D at baseline and at 3 months for a response rate of 75.8%. There were no incomplete questionnaires. The frequency of patients reporting problems in the EQ-5D domains of pain/discomfort, anxiety/depression, and usual activities decreased following sinus surgery (74.3% vs. 34.4%, 48.6% vs. 31.4%, and 30.6% vs. 19.4%, respectively; all P < 0.001). The domains of mobility and self-care did not demonstrate statistically significant change. EQ-5D VAS (standard deviation) improved from 73.4 (16.9) before surgery to 82.0 (14.4) after surgery (P < 0.001). Preoperative VAS correlated with SNOT-22 scores (Pearson coefficient of 0.50; P < 0.01). Postoperative change in VAS and SNOT-22 scores demonstrated moderate correlation (Pearson coefficient of 0.36, P < 0.01). CONCLUSION: The EQ-5D is a general health measure with sensitivity to clinical change in rhinosinusitis that support its use for monitoring patient outcomes. The limited response burden and ability to directly calculate health utility make it an attractive tool for rhinosinusitis outcomes research.

Long-Term Outcomes in Sinus Surgery: A New Tool for Measuring Health-Related Quality of Life.

OBJECTIVE: The 6-question EuroQol 5-Dimension Health Assessment (EQ-5D) is a widely used, simple instrument that monitors general health-related quality of life (HRQoL) in chronic disease. It has not previously been applied to US patients undergoing endoscopic sinus surgery (ESS). STUDY DESIGN: Prospective cohort study. SETTING: Academic Medical Center. SUBJECTS AND METHODS: The study population consisted of 267 patients with chronic rhinosinusitis (CRS) who completed 2 disease-specific instruments-the Chronic Sinusitis Survey (CSS) and the Sinonasal Outcomes Test-22 (SNOT-22)-and 1 general health-related quality-of-life instrument-the EQ-5D-before and after ESS for CRS. Baseline scores were compared to those collected 3 and 12 months after surgery and to the general US population. RESULTS: Surveys were completed at all time points by 186 patients, for a response rate of 69.7%. Patients with CRS, when compared to the US population, reported more problems in the domains of pain/discomfort (73.1% vs 40.8%, P < .01), anxiety/depression (50.5% vs 26.4%, P < .01), and usual activities (30.6% vs 15.0%, P < .01). One year following ESS, there was a significant decrease in patients who reported problems with pain/discomfort (54.3%, P < .001), anxiety/depression (30.6%, P < .001), and usual activities (21.5%, P < .01). After surgery, CRS anxiety/depression scores were no different from those of the US general population. Chronic Sinusitis Survey and SNOT-22 scores demonstrated similar postoperative improvements. CONCLUSION: The EQ-5D assessment provides meaningful general health outcomes data with low patient burden. Application of this instrument demonstrated long-term improvement in the quality of life of patients who undergo sinus surgery.

A new model for collection of clinical outcomes data in patients with chronic rhinosinusitis.

BACKGROUND: The need for objective assessment of patient outcomes is becoming an essential component of clinical practice for both private and academic otolaryngologists. The purpose of this study is to describe the implementation of an online model for collection of clinical outcomes data in patients with chronic rhinosinusitis (CRS). METHODS: Patients completed the Sinonasal Outcome Test (SNOT-22), Chronic Sinusitis Survey (CSS), and EuroQol 5-dimension assessment (EQ-5D), before and after sinus surgery. One year after initial patient enrollment, an online tool was developed to facilitate collection of postoperative data. Response rates preimplementation and postimplementation of online data collection were compared. RESULTS: A total of 520 sinus surgery patients provided outcomes data from the practices of 7 private practice (n = 308) and 4 academic otolaryngologists (n = 212). With implementation of the online collection instrument, the response rate at 3 months increased from 67% to 78.8% (p = 0.004). The overall follow-up rate at 3 months was higher in patients recruited from private as compared to academic practices (77.9% vs 69.8%, respectively, p = 0.04). CONCLUSION: Quality of life data can be effectively collected from CRS patients in both the private and academic practice setting. The addition of an online data collection tool can significantly increase response rates, and allow a comprehensive capture of meaningful clinical outcomes. Such a model is not difficult to implement and has increasing relevance as payers begin to request outcome data from providers.

Relationships of hip joint volume ratios with degrees of joint laxity and degenerative disease from youth to maturity in a canine population predisposed to hip joint osteoarthritis.

OBJECTIVE: To assess relationships of acetabular volume (AV), femoral head volume (FV), and portion of the femoral head within in the acetabulum (FVIA) with each other and with degrees of hip joint laxity and degenerative joint disease from youth to maturity in dogs predisposed to developing hip joint osteoarthritis (OA). ANIMALS: 46 mixed-breed half- or full-sibling hound-type dogs. PROCEDURES: The distraction index (DI), AV, FV, FVIA, and degree of osteoarthritis (OA score) were quantified in 1 hip joint at 16, 32, and 104 weeks of age. Relationships among variables were evaluated within and between ages. Ratios corresponding to OA scores were compared within ages. Differences among 16-week ratios corresponding to 32-week OA scores and among 16- and 32-week ratios corresponding to 104-week OA scores were evaluated. RESULTS: Significant positive relationships existed between FV and AV across ages as well as between FVIA/FV and FVIA/AV and between DI and OA score across and within most ages. Such relationships also existed within these variables across most ages. Negative relationships of DI and OA scores with FVIA/FV and FVIA/AV within and among all ages were significant. Sixteen-week AVs, FVs, and FVIAs were greater and FV/AVs and OA scores were less than 32- and 104-week values. The 32-week FVIA/FV was less than 16- and 104-week values, and the 32-week FVIA/AV was less than the 104-week value. The FVIA/FV and FVIA/AV were lower and the DI was higher with higher OA scores within and among most ages. CONCLUSIONS AND CLINICAL RELEVANCE: Structural volumes in lax canine hip joints changed predictably relative to each other during growth, despite degenerative changes. Measures developed in this study may augment current diagnosis and treatment strategies for hip dysplasia in dogs.