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Clinical Spectrum of Capillary Malformation–Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study 下载免费PDF全文
Nicole A. Weitz M.D. Christine T. Lauren M.D. Gerald G. Behr M.D. June K. Wu M.D. Jessica J. Kandel M.D. Philip M. Meyers M.D. Sally Sultan M.D. Kwame Anyane‐Yeboa M.D. Kimberly D. Morel M.D. Maria C. Garzon M.D. 《Pediatric dermatology》2015,32(1):76-84
Capillary malformation–arteriovenous malformation syndrome (CM‐AVM) is an autosomal dominant disorder caused by RASA1 mutations. The prevalence and phenotypic spectrum are unknown. Evaluation of patients with multiple CMs is challenging because associated AVMs can be life threatening. The objective of this study was to describe the clinical characteristics of children presenting with features of CM‐AVM to an academic pediatric dermatology practice. After institutional review board approval was received, a retrospective chart review was performed of patients presenting between 2009 and 2012 with features of CM‐AVM. We report nine cases. Presenting symptoms ranged from extensive vascular stains and cardiac failure to CMs noted incidentally during routine skin examination. All demonstrated multiple CMs, two had Parkes Weber syndrome, and two had multiple infantile hemangiomas. Seven patients had family histories of multiple CMs; three had family histories of large, atypical CMs. Six had personal or family histories of AVMs. Genetic evaluation was recommended for all and was pursued by six families; four RASA1 mutations were identified, including one de novo. Consultations with neurology, cardiology, and orthopedics were recommended. Most patients (89%) have not required treatment to date. CM‐AVM is an underrecognized condition with a wide clinical spectrum that often presents in childhood. Further evaluation may be indicated in patients with multiple CMs. This study is limited by its small and retrospective nature. 相似文献
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Patients have become increasingly well informed with higher expectations to be involved in decision-making processes regarding their care and treatment. However, few studies have examined the impact of patient involvement on health care providers’ partnership-building communication. The aim of this study was to measure and explore the self-reported effects of patient involvement on the work of physicians and nurses. A questionnaire survey was distributed among cardiology staff in 12 Swedish hospitals (N = 488, response rate 67%). The sample was comprised of registered nurses (RNs, n = 303), licensed practical nurses (LPNs, n = 132), and physicians (MDs, n = 53). Confirmatory factor analysis was used to examine seven questionnaire statements concerning implications of patient involvement for one’s clinical work. Regression analyses were used to examine factors associated with staff’s partnership-building communication. Analysis confirmed two distinct factors accounting for 57% of the total variance, representing both negative—“Hassles”—and positive—“Uplifts”—aspects of patient involvement. Regression analyses revealed that only positive aspects (i.e., uplifts) of patient involvement predicted staff behavior aimed at involving patients. Working with actively involved patients may be a source of stress, both negative and positive, for health care professionals. By developing work routines for involving patients in their care, health care workplaces may help health care professionals to buffer the negative effects, and enhance the positive effects, of that stress. 相似文献
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