Thanatophoric dysplasia (TD), a severe skeletal dysplasia, is virtually always lethal neonatally, although a few previous reports have documented survival up to 4.75 years. We present a patient with survival beyond age 9 years and summarize his growth, development and medical history. The common Arg248Cys mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3) was identified, eliminating the possibility that his long-term survival is attributable to an atypical mutation. This patient (and at least one other TD long-term survivor) have a rare skin disorder, acanthosis nigricans, which also occurs in Crouzon syndrome when caused by a FGFR3 mutation. Therefore, any molecular model of the origin of acanthosis nigricans secondary to FGFR3 mutations must account for the association of diverse mutations and these cutaneous effects.
Thanatophoric dysplasia (TD), a severe skeletal dysplasia, is virtually always lethal neonatally, although a few previous reports have documented survival up to 4.75 years. We present a patient with survival beyond age 9 years and summarize his growth, development and medical history. The common Arg248Cys mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3) was identified, eliminating the possibility that his long-term survival is attributable to an atypical mutation. This patient (and at least one other TD long-term survivor) have a rare skin disorder, acanthosis nigricans, which also occurs in Crouzon syndrome when caused by a FGFR3 mutation. Therefore, any molecular model of the origin of acanthosis nigricans secondary to FGFR3 mutations must account for the association of diverse mutations and these cutaneous effects.
Job satisfaction among hospital pharmacists employed by a national hospital pharmacy management company was measured by using a mail questionnaire. A previously validated survey that measured pharmacists’ job satisfaction was adapted for use in this study. Additional questions determined the pharmacist’s clinical pharmacy training and participation in clinical pharmacy services. Questionnaires were mailed to all full-time hospital pharmacists employed by the pharmacy management company. Of the 606 mailed, deliverable questionnaires, 354 usable responses were returned, for a response rate of 58.4%. The respondent hospital pharmacists’ level of job satisfaction showed a positive association with clinical pharmacy involvement. Of the nine items in the questionnaire that measured the pharmacists’ involvement in clinical pharmacy services, seven items showed a positive relationship between involvement in that clinical activity and job satisfaction. Mean job satisfaction increased as the percentage of time spent performing clinical pharmacy activities increased. Job satisfaction decreased as time spent performing distributive functions increased. The percentage of time hospital pharmacists were engaged in clinical activities was significantly associated with job satisfaction.
OBJECTIVE. In 2013, a multidisciplinary group at our Veterans Administration hospital collaborated to improve the diagnosis and treatment of patients with acute cholecystitis (AC) at our facility. Our role in this project was to evaluate the diagnostic accuracies of ultrasound (US) and CT. MATERIALS AND METHODS. AC was diagnosed in 60 patients (62 patient encounters) between July 1, 2013, and July 1, 2015. Of these patients, 56 underwent US, 48 underwent CT, and 42 underwent both. For the same time period, 60 patients without AC underwent US and 60 patients without AC underwent CT, and these imaging studies served as comparison studies. The groups were combined for a total of 182 unique patient encounters. A single radiologist reviewed the studies and tabulated the data. RESULTS. The sensitivity of CT for detecting AC was significantly greater than that of US: 85% versus 68% (p = 0.043), respectively; however, the negative predictive values of CT and US did not differ significantly: 90% versus 77% (p = 0.24–0.26). Because there were no false-positives, the specificity and positive predictive values for both modalities were 100%. Among the 42 patients who underwent CT and US, both modalities were positive for AC in 25 patients, CT was positive and US was negative in 10 patients, and US was positive and CT was negative in two patients; in five patients, both US and CT were negative. CONCLUSION. CT was significantly more sensitive for diagnosing AC than US. CT and US are complementary, and the other modality should be considered if there is high clinical suspicion for AC and the results of the first examination are negative.
Courts, the Patent Office, and commentators are in vigorous disagreement about what types of innovation should be patentable, and what, if any, innovation should remain off-limits to patenting.
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