Communicating genetic information: a difficult challenge for future pediatricians

<p>Abstract</p> <p>Background</p> <p>The role of the pediatrician as genetic counselor is ideal because pediatricians have medical knowledge and experience with genetic disorders (e.g. Down syndrome). Moreover, pediatricians can provide comprehensive care in a medical home to patients with genetic disorders. However, changes in the curriculum of the pediatric resident are necessary to address the future challenges of effectively communicating genetic information to patients. The objective of this study was to explore these challenges and make recommendations for training to adequately prepare pediatricians for their future role as genetic counselors.</p> <p>Methods</p> <p>Three reviewers independently searched PubMed, OVID, and Medline databases to identify articles describing the challenges of communicating genetic information to patients, published from 1960 to December 2005. After the publications were identified and reviewed, four major areas of interest were identified in order to categorize the findings.</p> <p>Results</p> <p>Twenty-five publications were identified during the literature search. From the review, the following categories were selected to organize the findings: (1) Inherent difficulties of communicating and comprehending genetic information; (2) Comprehension of genetic information by pediatricians; (3) Genetics training in residency programs; and (4) The effect of genetic information on the future role of pediatricians and potential legal implications.</p> <p>Conclusion</p> <p>Pediatricians and residents lack essential knowledge of genetics and communication skills for effective counseling of patients. The review indicated that successful communication of genetic information involves a number of important skills and considerations. It is likely that these skills and considerations are universally required for the communication of most complex specialized medical information. In the past, communication skills have not been considered a priority. Today, these skills have become a demanding professional and even legal obligation. However, the challenges involved in communicating complex medical information cannot be successfully addressed with universal, one-size-fits-all recommendations. Residency training programs require changes to adequately prepare future pediatricians for the growing challenge of communicating genetic information. Four important skills should be considered in the training of residents to improve the communication of complex information to patients. These skills are (1) discriminating, (2) understanding, (3) simplifying, and (4) explaining information.</p

Concurrent Central Diabetes Insipidus and Acute Myeloid Leukemia

Central diabetes insipidus (CDI) is a rare reported complication of acute myeloid leukemia (AML). The onset of AML-associated CDI often precedes the diagnosis of AML by weeks or months and is considered an adverse prognostic indicator in this setting. The mechanism of AML-associated CDI is not known; however, it is often reported in the setting of cytogenetic events resulting in MDS1 and EVI1 complex locus protein (MECOM) gene overexpression. Here, we describe a case of new onset CDI which preceded a diagnosis of AML by 1 month. We detail the clinical and laboratory evaluation of the patient’s CDI, and we describe the pathological and laboratory workup of their AML, which ultimately yielded a diagnosis of AML with myelodysplasia-related changes. Additional cytogenetic findings included the identification of the t (2;3)(p23;q27), which leads to MECOM gene overexpression and which to our knowledge has not previously been reported in the setting of AML-associated CDI. The patient received induction chemotherapy followed by allogeneic hematopoietic stem cell transplantation but experienced disease relapse and passed away nine months after initial diagnosis. We emphasize that new onset CDI can occur as a rare complication of AML where it portends a poor prognosis and may be related to AML subtypes displaying MECOM gene dysregulation

Hemodynamic Changes in Patients with Arteriovenous Malformations Assessed Using High-Resolution 3D Radial Phase-Contrast MR Angiography

BACKGROUND AND PURPOSE: Arteriovenous malformations have a high lifetime risk of hemorrhage; however, treatment carries a significant risk of morbidity and mortality, including permanent neurologic sequelae. WSS and other hemodynamic parameters are altered in patients with symptomatic AVMs, and analysis of hemodynamics may have value in stratifying patients into different risk groups. In this study, we examined hemodynamic data from patients with stable symptoms and those who pre-sented with acute symptoms to identify trends which may help in risk stratification. MATERIALS AND METHODS: Phase-contrast MRA using a radial readout (PC-VIPR) is a fast, high-resolution technique that can acquire whole-brain velocity-encoded angiograms with scan times of approximately 5 minutes. Ten patients with AVMs were scanned using PC-VIPR; velocity, area, flow, and WSS in vessels feeding the AVMs and normal contralateral vessels were calculated using velocity data from the phase-contrast acquisition. RESULTS: Patients with an asymptomatic presentation or mild symptoms (n 4) had no significant difference in WSS in feeding vessels compared with normal contralateral vessels, whereas patients presenting with hemorrhage, severe headaches/seizures, or focal neurologic deficits (n 6) had significantly higher WSS in feeding vessels compared with contralateral vessels

Primary nursing: A mode of care or a philosophy of nursing?

An examination of the literature surrounding primary nursing has shown that the term 'primary nursing' is used to mean different things by different authors. This results in a confusing situation where 'primary nursing' is considered by some to mean both a mode of organizing care delivery and a philosophy of nursing. In this paper I argue for a clear separation between the terms which refer to the set of ideas underpinning nursing and descriptions of modes of care. A case is made for using the term 'human centred nursing' to refer to nursing beliefs and 'primary nursing' to refer to the mode of nursing care delivery