Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency

In this study we investigated an asymptomatic 55-year-old Lebanese woman with factor XI deficiency. The F11 gene was analyzed and a cross reacting material positive (CRM+) variant, Thr575Met, was identified in homozygosity in the proband, and in heterozygosity in four of her siblings.     

Botulinum toxin injections do not improve freezing of gait in Parkinson disease

Freezing of gait (FOG) is common in patients with Parkinson disease (PD) and responds poorly to medical treatment. Botulinum toxin A (BTX-A) injections into calf muscles decreased FOG in previous open-label studies. The authors conducted a randomized double-blind placebo-controlled crossover study of BTX-A vs placebo in 12 subjects with PD and FOG. No significant improvement with BTX-A was found using subjective and objective measures.     

Cranial suture simulator for ultrasound diagnosis of craniosynostosis

Background: In evaluating the effectiveness of ultrasound as a screening tool for craniosynostosis it was discovered that sonologists and sonographers needed more experience scanning and visualizing cranial sutures on ultrasound. Objective: To create an ultrasound simulator to train radiologists and technologists to locate and recognize patent and fused cranial sutures in children. Materials and methods: The hypoechoic appearance of patent sutures was simulated by cutting lines into life-sized plastic doll heads and filling them with a commercial hypoechogenic material. Fused hyperechoic sutures were simulated by not cutting into the hard plastic region of a suture. The simulators teaching value was evaluated on three radiology residents and three fellows. Subjects performed pre-training scans on unknown simulators, received feedback and an opportunity to scan a training simulator, and then performed post-training scans on random unknown simulators. Accuracy was recorded as percentage of correctly demonstrated sutures. Results: The suture simulator reproduces the sonographic appearance of patent and fused cranial sutures. Accuracy of acquisition, interpretation, and overall diagnosis increased from 64 to 91%, 79 to 91%, 61 to 97%, respectively, between pre and post training scans. Conclusion: An ultrasound simulator can reproduce the appearance of patent and fused cranial sutures in children and can be used to train radiologists and technologists in the performance of a screening protocol.     

Project ENABLE: a palliative care demonstration project for advanced cancer patients in three settings

At the end of the 1990s, based on data from two major studies of end-of-life (EOL) care, the Study to Understand Prognoses and Preferences for Outcomes and Risks of Treatment (SUPPORT), and the Hospitalized Elderly Longitudinal Project (HELP), a consensus panel report documented the problems and needs of patients with cancer and other life-limiting diagnoses at end-of-life. A national program of The Robert Wood Johnson Foundation (RWJF), Promoting Excellence in End-of-Life Care, attempted to address these needs by funding demonstration projects to test various approaches to improve identified deficits. In 1998, Project ENABLE (Educate, Nurture, Advise Before Life Ends), one of four RWJF-funded cancer center/hospice collaborations of the Promoting Excellence program, began to address these issues. The jointly sponsored Norris Cotton Cancer Center (NCCC)/Hospice of Vermont and New Hampshire (Hospice VNH) program provided an integrated approach to the management of life-limiting cancer. Project ENABLE was aimed at alleviating the symptoms of disease and treatment, enhancing clinician and patient/family communication, offering support for families, friends and other caregivers, addressing emotional and spiritual needs of dying people and providing conceptual and administrative structure to provide EOL care consistent with patients' values and preferences. Although patient symptom data is not yet available, other measures of success included improved access to hospice and palliative care services from the time of diagnosis and a sustained palliative care program at two of the three sites in which the program was implemented.     

Insurance coverage of smoking cessation treatment for state employees

Public health experts recommend that health insurance include coverage for smoking cessation treatment as an evidence-based strategy to reduce smoking. As employers, states can implement this policy for more than 5 million individuals nationwide. This study identified the extent to which states require smoking cessation treatment insurance coverage for their employees; of 45 states, 29 required coverage for at least 1 US Public Health Service (PHS)-recommended treatment, and only 17 of 45 provided coverage that was fully consistent with PHS recommendations.     

How many problems do family physicians manage at each encounter? A WReN study

PURPOSE: The number of problems managed concurrently by family physicians during patient encounters has not been fully explored despite the implications for quality assessment, guideline implementation, education, research, administration, and funding. Our study objective was to determine the number of problems physicians report managing at each visit and compare that with the number reflected in the chart and the bill. METHODS: Twenty-nine members of the Wisconsin Research Network reported on encounters with 572 patients using a physician problem log. The patient chart notes and the diagnoses submitted for billing from the encounters were compared with the information in these logs. RESULTS: The physicians reported managing an average of 3.05 problems per encounter and recorded 2.82 in the chart and 1.97 on the bill. For all patients, 37% of encounters addressed more than 3 problems, and 18% addressed more than 4. For patients older than 65 years, there was an average of 3.88 problems at each visit, and for diabetic patients there was an average of 4.60. There was evidence for the selective omission of mental health and substance problems from the diagnoses used for billing. CONCLUSIONS: Family medicine involves the concurrent care of multiple problems, which billing data do not adequately reflect. Our findings suggest a mismatch between family medicine and current approaches to quality assessment, guideline implementation, education, research, administration, and funding. Activities in all these areas need to address the physician's task of prioritizing and integrating care for multiple problems concurrently.     

Estrogen and selective estrogen receptor modulators: neuroprotection in the Women's Health Initiative era

Estrogen has been comprehensively studied as a neuroprotective agent in women, animals, and a variety of in vitro models of neural injury and degeneration. Most data suggest that estrogen can benefit the ischemic brain and reduce cell death. However, recent data from the Women's Health Initiative have raised concerns about the utility and safety of chronic estrogen use in women. While estrogen is a potent and reproducible neuroprotectant in animals and in vitro, its current administration in women has had unanticipated and paradoxical effects. Nonetheless, estrogen's diverse actions make it an ideal prototype for developing new neuroprotectants such as selective estrogen receptor modulators (SERMs). SERMs represent a class of drugs with mixed estrogen agonistic and antagonistic activity. Experimental and clinical data suggest a neuroprotective role for SERMs in normal and injured brain. The discrepancy among observational studies, preclinical data, and clinical trials emphasizes the need for further study of the mechanisms leading to the increased incidence of stroke observed in postmenopausal women. Research is still needed to optimize combined or estrogen alone hormone replacement therapy options as well as the prevention/management of cerebrovascular/ central nervous system disorders. This review critiques estrogen and SERMs' neuroprotective potential in experimental and clinical studies of stroke and cerebrovascular disease.     

Assessing data adequacy for clinical research: reliability and validity of a surgical database

As clinical databases are utilized more frequently for clinical research, it is essential that researchers assess the quality of databased information. While researchers have begun to report strategies to measure accuracy of databased information, knowledge remains limited. The purpose of this study was to assess the reliability and validity of databased information among selected study variables contained within a computerized coronary artery surgery clinical database using the written patient medical record as an external standard. Both reliability (N = 400) and validity (N = 100) samples were randomly selected from a databased sampling frame of 548 Medicare subjects who underwent coronary artery bypass grafting surgery in 1998. Reliability assessed by consistency rates were age (95%), race (94%), gender (99%), congestive heart failure (CHF) (60.5%), angina (91.5%), renal insufficiency (82%), hypertension (91.7%), diabetes mellitus (93.7%), chronic obstructive pulmonary disease (COPD) (75.5%), clinical status (97%), American Society of Anesthesiologists classification (99%), prior peripheral vascular surgery (15.5%), prior CABGS (99%), and duration of mechanical ventilation (87.5%). These percentages reflected a large portion of missing data for CHF, COPD, and prior peripheral vascular surgery. Validity assessed by sensitivity and specificity analyses were all greater than 80%. The majority of computerized databased information among selected study variables was the same information recorded in the written patient medical record. Using the same external standard to assess both reliability and validity was a significant limitation of this study, which resulted in the same measure of data adequacy by utilizing differing statistical methods.