Results 121 to 130 of about 1,546,300 (344)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Nursing Wellness in Academic and Clinical Cardiovascular and Stroke Nursing: A Scientific Statement From the American Heart Association

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Nursing is an essential part of our health care system workforce. Cardiovascular and stroke nursing represents one of the largest specialty areas requiring expert knowledge and clinical proficiency to ensure safety and quality patient outcomes.
Nancy A. Pike, Cynthia M. Dougherty, Terrie Black, Vicki Freedenberg, Theresa L. Green, Jill Howie‐Esquivel, Gianluca Pucciarelli, Kimberly Souffront, Paul St. Laurent   +8 more
doaj   +1 more source

Conversation Starters: Research Insights from Clinicans and Patients on Conversations about End-of-Life Care and Wishes [PDF]

, 2016
The John A. Hartford Foundation, Cambia Health Foundation, and California Health Care Foundation commissioned PerryUndem Research/ Communication to conduct focus groups among health care clinicians and patients on the topic of end-of-life care and wishes.

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Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Acceptability of medical digital libraries [PDF]

, 2002
Evidenced-based medicine has increased the importance of quick accessibility to reputable, upto-date information. Web-accessible digital libraries (DLs) on the wards can address the demand for such information.
Adams, A, Blandford, A
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Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Achieving change through clinical leadership: The rewarding journey of advocating for perioperative nurses and nurse surgical assistants in Australia

Journal of Perioperative Nursing
This paper explores the transformative impact of clinical leadership within the perioperative setting of the Australian healthcare system. It details the grassroots advocacy led by perioperative clinicians, particularly nurse practitioners, who invested
Toni Hains, Catherine Smith
doaj   +2 more sources

The unseen and unacceptable face of digital libraries [PDF]

, 2004
The social and organisational aspects of digital libraries (DLs) are often overlooked, but this paper reviews how they can affect users' awareness and acceptance of DLs.
Adams, A, Blandford, A
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Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Crossing Organizational Boundaries in Palliative Care: The Promise and Reality of Community Partnerships [PDF]

, 2003
This report presents the first of a series of findings from the Community-Oriented Palliative Care Initiative (COPCI), an innovative program testing new approaches to caring for individuals with progressive, life threatening illness.
Susan Shampaine Hopper
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