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Item 30-minute CMR for common clinical indications: a Society for Cardiovascular Magnetic Resonance white paper(BMC, 2022-03-01) Raman, Subha V.; Markl, Michael; Patel, Amit R.; Bryant, Jennifer; Allen, Bradley D.; Plein, Sven; Seiberlich, Nicole; Medicine, School of MedicineBackground: Despite decades of accruing evidence supporting the clinical utility of cardiovascular magnetic resonance (CMR), adoption of CMR in routine cardiovascular practice remains limited in many regions of the world. Persistent use of long scan times of 60 min or more contributes to limited adoption, though techniques available on most scanners afford routine CMR examination within 30 min. Incorporating such techniques into standardize protocols can answer common clinical questions in daily practice, including those related to heart failure, cardiomyopathy, ventricular arrhythmia, ischemic heart disease, and non-ischemic myocardial injury. BODY: In this white paper, we describe CMR protocols of 30 min or shorter duration with routine techniques with or without stress perfusion, plus specific approaches in patient and scanner room preparation for efficiency. Minimum requirements for the scanner gradient system, coil hardware and pulse sequences are detailed. Recent advances such as quantitative myocardial mapping and other add-on acquisitions can be incorporated into the proposed protocols without significant extension of scan duration for most patients. Conclusion: Common questions in clinical cardiovascular practice can be answered in routine CMR protocols under 30 min; their incorporation warrants consideration to facilitate increased access to CMR worldwide.Item Celiac disease in North America: What is the current practice of pediatric gastroenterology providers?(Wolters Kluwer, 2024-05-27) Singh, Arunjot; Silvester, Jocelyn; Turner, Justine; Absah, Imad; Sparks, Brandon A.; Walsh, Catharine M.; Bracken, Julia M.; Stanisz, Joanna; Hajjat, Temara; Badalyan, Vahe; Chugh, Ankur; Hoffenberg, Edward J.; Dowhaniuk, Jenna K.; Pediatrics, School of MedicineObjectives: While guidelines exist for the diagnosis and management of pediatric celiac disease (CeD), current practices in North America are not well-described. This study aimed to explore current practice patterns to identify gaps and direct future clinical, training and research initiatives. Methods: A 23-item survey designed by the Celiac Disease Special Interest Group was distributed electronically to its members. Questions explored four themes: (1) screening and diagnosis pre and post the coronavirus disease (COVID)-19 pandemic, (2) treatment and monitoring, (3) family screening and transition of care, and (4) CeD focused training. Results: The survey response rate was 10.8% (278/2552). Most respondents were from the United States (89.9%, n = 250) and Canada (8.6%, n = 24). While endoscopy remained the gold standard, serology-based diagnosis was accepted by 47.5% (132/278). In response to the COVID-19 pandemic, 37.4% of providers changed their diagnostic practice. Barriers to care included: lack of insurance coverage for dietitians, wait times, and lack of CeD focused training. During fellowship 69.1% (192/278) reported no focused CeD training. Conclusion: Survey results revealed practice variation regarding the diagnosis and management of CeD in North America including a substantial proportion accepting non-biopsy, serology-based diagnosis, which increased during the COVID-19 pandemic. Variations in screening, diagnosis, interval surveillance, and family screening were also identified. Dedicated CeD education in pediatric gastroenterology fellowship may be an opportunity for standardizing practice and advancing research. Future North American guidelines should take current care patterns into consideration and develop new initiatives to improve care of children with CeD.Item Clinical Pharmacogenetics From a Nursing Perspective: Personalizing Drug Therapy(Sigma International Nursing Research Congress, 2019) Fulton, Cathy R.Precision medicine is the approach to patient care that is focused on finding the most appropriate medication based on the interplay between genetic, environmental, and lifestyle factors to improve patient outcomes. With sufficient knowledge and experience, all nurses will become more confident in applying pharmacogenetic results within the clinical context.Item Crystalglobulinemia causing cutaneous vasculopathy and acute nephropathy in a kidney transplant patient(Elsevier, 2021) Wilson, Chase; Phillips, Carrie L.; Klenk, Alison; Kuhar, Matthew; Yaqub, Muhammad S.; Dermatology, School of MedicineWe present a rare case of crystalglobulinemia causing cutaneous vasculopathy and acute nephropathy in a 66-year-old female kidney transplant recipient. The patient presented with acute kidney injury (AKI), volume overload, anuria, retiform purpura, and blue-black necrosis of her toes. She received a living kidney transplant 7 months earlier with baseline creatinine of 0.6 mg/dl. Transplant kidney biopsy showed massive pseudo-thrombi filling glomerular capillary lumina. Electron microscopy of thrombi revealed an ultrastructural crystalline pattern of linear and curvilinear bundles with ladder-like periodicity typical of crystalglobulin-induced nephropathy. Similar crystalline pseudo-thrombi were detected ultrastructurally in a skin biopsy specimen, indicating systemic involvement. She required several sessions of hemodialysis. Plasmapheresis was initiated to decrease the number of circulating crystalglobulins. In order to treat the underlying paraproteinemia, the patient was started on bortezomib and dexamethasone. After treatment with five cycles of bortezomib, the patient's free kappa to lambda ratio improved to 2.35 from 5.52. Acute kidney injury (AKI) and the cutaneous vasculopathy gradually improved with treatment. This is an extremely rare occurrence of crystalglobulin in a living kidney transplant recipient.Item Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease(Frontiers Media, 2024-05-13) Oehlman, Laura B.; Opotowsky, Alexander R.; Weaver, Kathryn N.; Brown, Nicole M.; Barnett, Cara L.; Miller, Erin M.; He, Hua; Shikany, Amy R.; Medical and Molecular Genetics, School of MedicineBackground: Congenital heart disease (CHD) is the most common congenital anomaly. Up to 33% have an identifiable genetic etiology. Improved medical and surgical management of CHD has translated into longer life expectancy and a rapidly growing population of adults living with CHD. The adult CHD (ACHD) population did not have access during childhood to the genetic technologies available today and therefore have not had a robust genetic evaluation that is currently recommended for infants with CHD. Given this potential benefit; the aims of this study were to determine how ACHD cardiologists offer genetics services to patients and identify the indications that influence decision-making for genetics care. Methods: We performed a descriptive cross-sectional study of ACHD cardiologists. A study-developed questionnaire was distributed via emailed REDCap link. The recruitment email was sent to 104 potential respondents. The survey was open from 06/2022 to 01/2023. Results: Thirty-five cardiologists participated in the study (response rate of 34%). Most cardiologists identified as white (77%) and male (66%). Cardiologists were more likely to refer patients to genetics (91%) than to order testing themselves (57%). Of the testing ordered, chromosomal testing (55%) was ordered more than gene sequencing (14%). Most cardiologists would refer a patient with a conotruncal lesion (interrupted aortic arch) over other indications for a genetics evaluation. There were more reported barriers to ordering genetic testing (66%) compared to referring to genetics for a genetics evaluation (23%). Cardiologists were more confident recognizing features suggestive of a genetic syndrome than ordering the correct test (p = 0.001). Regarding associations between clinical factors and current practices, more years in practice trended towards less referrals and testing. Evaluating a greater number of patients (p = 0.11) and greater confidence recognizing syndromic features (p = 0.12) and ordering the correct test (p = 0.09) were all associated with ordering more testing. Conclusion: Testing for microdeletion syndromes is being offered and completed in the ACHD population, however testing for single-gene disorders associated with CHD is being under-utilized. Developing guidelines for genetic testing in adults with CHD could increase access to genetic services, impact medical management, reduce uncertainty regarding prognosis, and inform recurrence risk estimates.Item An educational video improves physician knowledge of a public health care law that affects patient care during hospital clinical practice(Sage, 2021-05-31) Comer, Amber R.; Salven, James; Torke, Alexia; Medicine, School of MedicineWhen public health laws are passed that affect clinical practice within hospitals, it is important to educate physicians about best practices in implementing these laws into routine patient care in hospitals. An educational video was developed to inform physicians about a new state public health care law. This study sought to determine whether an educational video about a new state public health care law improves physicians' knowledge of the law and how to implement the law during clinical practice. A total of n=33 internal medicine physicians participated in this study. This study found that an educational video was successful in increasing physician knowledge about a new public health care law that affects clinical practice. The utilization of validated educational videos may provide a useful resource when attempting to provide education about new public health laws that effect the provision of medical care.Item Polygenic risk scores in psychiatry: Will they be useful for clinicians?(F1000 Research, 2019-07-31) Fullerton, Janice M.; Nurnberger, John I.; Psychiatry, School of MedicineMajor psychiatric disorders are heritable but they are genetically complex. This means that, with certain exceptions, single gene markers will not be helpful for diagnosis. However, we are learning more about the large number of gene variants that, in combination, are associated with risk for disorders such as schizophrenia, bipolar disorder, and other psychiatric conditions. The presence of those risk variants may now be combined into a polygenic risk score (PRS). Such a score provides a quantitative index of the genomic burden of risk variants in an individual, which relates to the likelihood that a person has a particular disorder. Currently, such scores are quite useful in research, and they are telling us much about the relationships between different disorders and other indices of brain function. In the future, as the datasets supporting the development of such scores become larger and more diverse and as methodological developments improve predictive capacity, we expect that PRS will have substantial clinical utility in the assessment of risk for disease, subtypes of disease, and even treatment response. Here, we provide an overview of PRS in general terms (including a glossary suitable for informed non-geneticists) and discuss the use of PRS in psychiatry, including their limitations and cautions for interpretation, as well as their applications now and in the future.