Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.

Oculoectodermal syndrome (OES) is a rare disease characterized by a combination of congenital scalp lesions and ocular dermoids, with additional manifestations including non-ossifying fibromas and giant cell granulomas of the jaw occurring during the first decade of life. To identify the genetic etiology of OES, we conducted whole-genome sequencing of several tissues in an affected individual. Comparison of DNA from a non-ossifying fibroma to blood-derived DNA allowed identification of a somatic missense alteration in KRAS NM_033360.3(KRAS):c.38G>A, resulting in p.Gly13Asp. This alteration was also observed in the patient's other affected tissues including the skin and muscle. Targeted sequencing in a second, unrelated OES patient identified an NM_033360.3(KRAS):c.57G>C, p.Leu19Phe alteration. Allelic frequencies fell below 40% in all tissues examined in both patients, suggesting that OES is a mosaic RAS-related disorder, or RASopathy. The characteristic findings in OES, including scalp lesions, ocular dermoids, and benign tumors, are found in other mosaic and germline RASopathies. This discovery also broadens our understanding of the spectrum of phenotypes resulting from KRAS alterations. Future research into disease progression with regard to malignancy risk and investigation of RAS-targeted therapies in OES is warranted. KRAS sequencing is clinically available and may also now improve OES diagnostic criteria.

Effect of various antipsychotic regimens on incidence of delirium in critically ill adults.

PURPOSE: Delirium is common during critical illness but it is unknown whether the choice of antipsychotic or dosing strategy impacts delirium outcomes. We evaluated the incidence of delirium in critically ill adults receiving different antipsychotic regimens. MATERIALS AND METHODS: Single center retrospective cohort study of adult patients admitted to the intensive care unit (ICU). Patients who received haloperidol or quetiapine and scored negative on the Confusion Assessment Method for the ICU (CAM-ICU) prior to initiation were included. Patients were divided into four groups based on dosing schedule of the antipsychotic. The primary outcomes were the incidence and duration of delirium. RESULTS: Eighty patients were included in the study. Patients received scheduled quetiapine (35%), PRN haloperidol (55%), and PRN quetiapine (10%). The overall incidence of delirium in patients receiving antipsychotics was 39%. The incidence of delirium was similar between the scheduled quetiapine group, PRN haloperidol and PRN quetiapine groups, at 39%, 50% and 36%, respectively (p=0.79). The scheduled quetiapine group had a longer time to first episode of delirium, but this was not statistically significant (11days vs 4.8days vs 5.6days; p=0.20). CONCLUSIONS: There was no difference in incidence or duration of delirium between quetiapine and haloperidol regimens.

Patient satisfaction of female and male users of Veterans Health Administration services.

OBJECTIVE: To compare patient satisfaction of male and female users of Veterans Health Administration (VHA) services. DESIGN: Cross-sectional study based on secondary analysis of data from VHA's Survey of Healthcare Experiences of Patients (SHEP). PATIENTS: National random sample of 107,995 outpatients and 112,817 inpatients in FY2004. MEASURES: Patient's ratings of overall quality (OQ) and unique dimensions of satisfaction. Sociodemographic and health-related patient attributes. ANALYSIS: Bivariate unadjusted analyses of the association between gender and other patient attributes and the outcomes of OQ and dimensions of satisfaction were conducted followed by multivariate analyses for each outcome, adjusting for demographic and health variables. RESULTS: Significant differences between female and male reporting of satisfaction were found in the unadjusted analyses with males showing greater levels of satisfaction than females (P<.05). These differences disappeared or became smaller for both outpatient and inpatient services, after adjusting for covariates. For 6 of the inpatient dimensions (Transitions, Physical Comfort, Involvement Family and Friends, Courtesy, Coordination, and Access) males had higher satisfaction than females after statistical adjustment. CONCLUSIONS: After adjustment for patient attributes, female VHA outpatients report similar OQ with VHA services as male patients. The fact that some inpatient dimensions of satisfaction continued to show effects favoring males even after adjustment suggests areas for continued focus in improving health care quality. Covariate adjustment is essential for evaluating satisfaction with health care services. Breaking down overall satisfaction into independent aspects of services is useful. The SHEP survey has provided a useful tool for evaluating and improving satisfaction among its VHA veteran users.

Use of intraoperative isocentric C-arm 3D fluoroscopy for sextant percutaneous pedicle screw placement: case report and review of the literature.

BACKGROUND CONTEXT: Three-dimensional (3D) fluoroscopy-based image guidance system using an isocentric C-arm (Iso-C) fluoroscope was shown to be as effective as computed tomography-based systems in guiding the accurate percutaneous placement of lumbar pedicle screws in cadavers. To date, however, no description is available of the intraoperative use of 3D fluoroscopy to guide lumbar pedicle screw placement in an actual spinal fusion procedure. PURPOSE: We report a case in which isocentric 3D fluoroscopic images, along with image-guidance software, were used to guide the placement of percutaneous pedicle screws for fusion in a patient with degenerative spondylolisthesis. STUDY DESIGN/SETTING: Operating room of a large academic medical center during the placement of percutaneous pedicle screws in a patient with degenerative spondylolisthesis. METHODS: A percutaneous dynamic reference array was attached to the L3 spinous process. A satisfactory image set was obtained and automatically registered. The L4 and L5 pedicles were localized, and pedicle holes were then cannulated, drilled and tapped. A screw was then inserted using the Sextant system for percutaneous pedicle screws. In this manner, bilateral pedicle screws were inserted into the L4-L5 pedicles. All steps of pedicle cannulation were performed under Iso-C 3D image guidance. RESULTS: A postoperative computed tomography scan showed accurate placement of all pedicle screws. The patient experienced an improvement in leg pain with no new neurologic deficits. CONCLUSIONS: The present case is the first case to demonstrate the intraoperative use of a 3D fluoroscopy-based image-guidance system for accurate navigation during lumbar pedicle screw placement.

Veterans Health Administration patients' use of the private sector for coronary revascularization in New York: opportunities to improve outcomes by directing care to high-performance hospitals.

OBJECTIVE: We sought to quantify Veterans Health Administration (VA) patients' utilization of coronary revascularization in the private sector and to assess the potential impact of directing this care to high-performance hospitals. METHODS: Using VA and New York State administrative and clinical databases, we conducted a retrospective cohort study examining residents of New York State who were enrolled in the VA and underwent either coronary artery bypass graft (CABG) surgery or percutaneous coronary intervention (PCI) in 1999 or 2000 (n=6562) in either the VA or the private sector. We first calculated the proportion of revascularizations obtained in the VA and the private sector. We then identified the private sector hospitals in which these men obtained revascularizations and determined potential changes in mortality and travel burden associated with directing private sector care to high performance hospitals. RESULTS: VA patients in New York were much more likely to undergo revascularization in the private sector than in VA hospitals: 83% of CABGs (2341/2829) and 87% of PCIs (4054/4665) were obtained in the private sector. Private sector utilization was distributed evenly across high- and low-mortality hospitals. Directing private-sector CABG surgery to high-performance hospitals could have reduced expected mortality by 24% (from 2.3% to 1.7%) and would only increase median travel time from 21 to 30 minutes. The benefit of redirecting PCI care is minimal. CONCLUSIONS: For high-mortality procedures that veterans frequently obtain in the private sector, like CABG, directing care to high-performance hospitals may be an effective way to improve outcomes for veterans.