Recent Publications by CFE Educators

Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected siblings. Assuming autosomal recessive inheritance, two novel sequence variants were identified in both siblings in CYP26C1-a duplication of seven base pairs, which was maternally inherited, c.844_851dupCCATGCA, predicting p.Glu284fsX128 and a missense mutation, c.1433G>A, predicting p.Arg478His, that was paternally inherited. The duplication predicted a frameshift mutation that led to a premature stop codon and premature chain termination, whereas the missense mutation was not functional based on its in vitro expression in mammalian cells. The FFDD skin lesions arise along the sites of fusion of the maxillary and mandibular prominences early in facial development, and Cyp26c1 was expressed exactly along the fusion line for these facial prominences in the first branchial arch in mice. Sequencing of four additional, unrelated Type IV FFDD patients and eight Type II or III TWIST2-negative FFDD patients revealed that three of the Type IV patients were homozygous for the duplication, whereas none of the Type II or III patients had CYP26C1 mutations. The seven base pairs duplication was present in 0.3% of healthy controls and 0.3% of patients with other birth defects. These findings suggest that the phenotypic manifestations of FFDD Type IV can be non-penetrant or underascertained. Thus, FFDD Type IV results from the loss of function mutations in CYP26C1.

BACKGROUND

In the last 6 months of life, many older adults will experience a hospitalization, followed by a transfer to a skilled nursing facility (SNF) for additional care. We sought to examine patterns of Medicare posthospitalization SNF use in the last 6 months of life.

METHODS

We used data from the Health and Retirement Study, a longitudinal survey of older adults, linked to Medicare claims (January 1994 through December 2007). We determined the number of individuals 65 years or older at death who had used the SNF benefit in the last 6 months of life. We report demographic, social, and clinical correlates of SNF use. We examined the relationship between place of death and hospice use for those residing in nursing homes and the community before the last 6 months of life.

RESULTS

The mean age at death among 5163 individuals was 82.8 years; 54.5% of the cohort were female, and 23.2% had resided in a nursing home. In total, 30.5% had used the SNF benefit in the last 6 months of life, and 9.2% had died while enrolled in the SNF benefit. The use of the SNF benefit was greater among patients who were 85 years or older, had at least a high school education, did not have cancer, resided in a nursing home, used home health services, and were expected to die soon (P .01 for all). Of community dwellers who had used the SNF benefit, 42.5% died in a nursing home, 10.7% died at home, 38.8% died in the hospital, and 8.0% died elsewhere. In contrast, of community dwellers who did not use the SNF benefit, 5.3% died in a nursing home, 40.6% died at home, 44.3% died in the hospital, and 9.8% died elsewhere.

CONCLUSIONS

Almost one-third of older adults receive care in a SNF in the last 6 months of life under the Medicare posthospitalization benefit, and 1 in 11 elders will die while enrolled in the SNF benefit. Palliative care services should be incorporated into SNF-level care.

BACKGROUND

Risks of most types of leukemia from exposure to acute high doses of ionizing radiation are well known, but risks associated with protracted exposures, as well as associations between radiation and chronic lymphocytic leukemia (CLL), are not clear.

OBJECTIVES

We estimated relative risks of CLL and non-CLL from protracted exposures to low-dose ionizing radiation.

METHODS

A nested case-control study was conducted in a cohort of 110,645 Ukrainian cleanup workers of the 1986 Chornobyl nuclear power plant accident. Cases of incident leukemia diagnosed in 1986-2006 were confirmed by a panel of expert hematologists/hematopathologists. Controls were matched to cases on place of residence and year of birth. We estimated individual bone marrow radiation doses by the Realistic Analytical Dose Reconstruction with Uncertainty Estimation (RADRUE) method. We then used a conditional logistic regression model to estimate excess relative risk of leukemia per gray (ERR/Gy) of radiation dose.

RESULTS

We found a significant linear dose response for all leukemia [137 cases, ERR/Gy = 1.26 (95% CI: 0.03, 3.58]. There were nonsignificant positive dose responses for both CLL and non-CLL (ERR/Gy = 0.76 and 1.87, respectively). In our primary analysis excluding 20 cases with direct in-person interviews 2 years from start of chemotherapy with an anomalous finding of ERR/Gy = -0.47 (95% CI: -0.47, 1.02), the ERR/Gy for the remaining 117 cases was 2.38 (95% CI: 0.49, 5.87). For CLL, the ERR/Gy was 2.58 (95% CI: 0.02, 8.43), and for non-CLL, ERR/Gy was 2.21 (95% CI: 0.05, 7.61). Altogether, 16% of leukemia cases (18% of CLL, 15% of non-CLL) were attributed to radiation exposure.

CONCLUSIONS

Exposure to low doses and to low dose-rates of radiation from post-Chornobyl cleanup work was associated with a significant increase in risk of leukemia, which was statistically consistent with estimates for the Japanese atomic bomb survivors. Based on the primary analysis, we conclude that CLL and non-CLL are both radiosensitive.

PURPOSE

We describe the epidemiological features of adult genitourinary injuries related to consumer products and determined the patient cohorts, products and situations associated with increased genitourinary injury risk.

MATERIALS AND METHODS

The National Electronic Injury Surveillance System, a data set validated to provide a probability sample of injury related emergency department presentations in the United States, was analyzed to characterize genitourinary injuries from 2002 to 2010. We analyzed 3,545 observations to derive national estimates.

RESULTS

An estimated 142,144 adults (95% CI 115,324-168,964) presented to American emergency departments with genitourinary injuries from 2002 to 2010. Of the injuries 69% occurred in men. A large majority of injuries involved the external genitalia. The most common categories of products involved were sporting items in 30.2% of cases, clothing articles in 9.4% and furniture in 9.2%. The highest prevalence of injury was at ages 18 to 28 years (37.5%), which was most often related to sports equipment, such as bicycles. Older cohorts (age greater than 65 years) more commonly sustained injuries during falls and often in the bathroom during use of a shower or tub. Of all patients 88% were evaluated and treated in the emergency department without inpatient admission, although the admission rate increased with increasing patient age.

CONCLUSIONS

Acute genitourinary injury is often associated with common consumer items and with identifiable high risk cohorts, products and situations. Consumers, practitioners and safety champions can use our epidemiological data to prioritize and develop strategies aimed at the prevention, limitation and informed treatment of such injuries.

OBJECTIVE

The aim of this study was to determine the frequency of surgical correction of maxillary hypoplasia in individuals with nonsyndromic cleft lip and/or palate (CL/P) treated at the Center for Craniofacial Anomalies at University of California, San Francisco (UCSF).

SUBJECTS

This is a retrospective cohort study of individuals with cleft lip and/or palate born between 1970 and 1990 who were treated at the UCSF Center for Craniofacial Anomalies. Data were gathered from the UCSF Craniofacial Anomalies Filemaker Pro database.

METHODS

From the database, we collected the following information: age, gender, cleft type, date of orthognathic surgery, and type of osteotomy. The subjects were further subcategorized by cleft type and gender.

RESULTS

A total of 973 individuals with a diagnosis of cleft lip and/or palate were reviewed: 325 subjects had an associated syndrome and 648 were nonsyndromic. A total of 59 of these 648 nonsyndromic cleft individuals (9.1%) required surgical intervention for correction of maxillary hypoplasia: 2/105 (1.9%) for cleft lip, 4/122 (3.3%) for cleft palate, 35/286 (12.2%) for unilateral cleft lip and palate, and 18/135 (13.3%) for bilateral cleft lip and palate.

CONCLUSIONS

The frequency of surgical correction for maxillary hypoplasia in cleft individuals at UCSF Center for Craniofacial Anomalies at 9% was lower than the reported average of 25%.

OBJECT

Surgical and medical errors result from failures in communication and handoffs as well as lack of standardization in clinical protocols and safety practices. Checklists, simulation training, and teamwork training have been shown to decrease adverse patient events and increase the safety culture of surgical teams. The goal of this project was to simplify and standardize perioperative patient safety practices and team communication processes within operative neurosurgery through the creation of an educational safety video targeted at a neurosurgical provider audience.

METHODS

A multidisciplinary group consisting of neurosurgeons, anesthesiologists, nurses, neuromonitoring specialists, quality champions, and a professional video production company met over several months in an iterative process to 1) determine the overall objectives of the video, 2) decide on the content and format of the video, 3) modify the proposed content and format based on stakeholder feedback, and 4) record the video and complete final revisions during postproduction.

RESULTS

The video was launched within the authors' institution in July 2012 in conjunction with ongoing research projects to study the effects of the video on 1) multidisciplinary providers' knowledge of perioperative safety practices, 2) provider safety attitudes and safety culture in the operating room, and 3) provider behavior in performing predetermined elements of the preoperative timeout and postoperative debrief.

CONCLUSIONS

The neurosurgical perioperative safety video can serve as a national model for how quality champions can drive changes in safety culture and provider behavior among multidisciplinary perioperative patient care teams. Ongoing research is being performed to assess the impact of the video on provider knowledge, behavior, and safety attitudes and culture.