Purpose
HFE‐hemochromatosis is one of the most common genetic disorders in the United States among Caucasians of Northern European ancestry. The purpose of this article is to discuss HFE‐associated hereditary hemochromatosis (HH), including the genetics, pathophysiology, phenotype and genotype, diagnostics, and management utilizing a case‐based format as an exemplar.
Data sources
Online genetic resources; professional guidelines; review; and scientific articles.
Conclusion
HFE‐HH is an autosomal recessive disorder and two major genes C282Y and H63D are associated with HH (iron overload) susceptibility particularly C282Y/C282Y mutations. It has a variable penetrance and expression. Individuals who develop iron overload may develop broad symptoms, including joint discomfort, fatigue, decreased libido, and abdominal pain; and if left untreated, HFE‐HH has the potential of developing end‐organ disease including liver fibrosis, cirrhosis, and cancer; cardiac arrhythmias or heart failure; and diabetes. Suspicion of the disorder begins with personal and family history, transferrin saturation, and ferritin levels, and if high, genotyping to confirm the disorder. Management consists of correcting iron overload to prevent/delay end‐organ damage often consisting of intermittent phlebotomy.
Implications for practice
Knowledge of HFE‐HH is essential so that nurse practitioners can identify individuals at risk and to provide appropriate management of care and referral.
Background and purpose
Pulsatile tinnitus is a whooshing sound heard synchronous with the heartbeat. It is an uncommon symptom affecting fewer than 10% of patients with tinnitus. It often goes unrecognized in the primary care setting. Failure to recognize this symptom can result in a missed or delayed diagnosis of a potentially life‐threatening condition known as a dural arteriovenous fistula. The purpose of this case study is to provide a structured approach to the identification of pulsatile tinnitus and provide management recommendations.
Method
A case study and review of pertinent literature.
Conclusions
Pulsatile tinnitus usually has a vascular treatable cause. A comprehensive history and physical examination will alert the nurse practitioner (NP) when pulsatile tinnitus is present. Auscultation in specific areas of the head can detect audible or objective pulsatile tinnitus. Pulsatile tinnitus that is audible to the examiner is an urgent medical condition requiring immediate consultation and referral.
Implications for practice
Knowledge of pulsatile tinnitus and awareness of this often treatable condition directs the NP to perform a detailed assessment when patients present with tinnitus, directs appropriate referral for care and treatment, and can reduce the risk of delayed or missed diagnosis.
Purpose
Quality of care provided by nurse practitioners (NPs) has been measured for the last 40 years; however, no known program measuring quality of care in an NP practice on an ongoing basis was found in the published literature. The purpose of this article is to describe the implementation of an ongoing professional practice evaluation (OPPE) program at a Veterans Health Administration facility.
Data sources
An evidence‐based review was conducted to assess, evaluate, and report findings from outcomes research, systematic reviews, and meta‐analyses, and interventions regarding standards and oversight of NP practice in the following databases: PubMed, Google®, Cumulative Index of Nursing and Allied Health, Agency for Healthcare Research and Quality, Institute of Medicine, and “.gov” websites.
Conclusions
NPs have established a reputation in the delivery of efficient, accessible, effective, and high‐quality care. Researchers suggest episodic measurement of care. For NPs, an OPPE program provides oversight of quality of care, surveillance, education, and feedback while evaluating and validating an NP's quality of care on an ongoing basis.
Implications for practice
The OPPE program provides a prototype for measuring and improving NP practice nationally. In providing validation and transparency, it reassures administrators and the public that NP practice meets strenuous national standards.
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