Results 131 to 140 of about 1,572,002 (336)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Nurses and Computers: An international perspective on how nurses are, and how they would like to be, using ICT in the workplace, and the support they consider that they need.

The use of IT in nursing (nursing informatics) is increasing, and has the potential to improve patient care. Research, and the experience of the author, have shown however that nurses lack basic IT skills and informatics knowledge.
Bond, Carol S.
core  

Interprofessional communication of prognosis: Teaching to bridge the gaps

, 2011
Context and Objectives: The communication of patient prognosis is an essential component of modern healthcare. Previous research has focussed on clinician-to-patient communication only, while the interaction between different professionals in a clinical ...
Bail, K., Morrison, Paul, Morrison, P., Bail, Kasia; id_orcid   +3 more
core  

A comparison of the nursing competence of graduates and diplomates from UK nursing programmes

, 2000
This paper reviews the literature on nursing competence measurement and reports the results of a comparative quantitative study of the competencies of Project 2000 diplomates and BA (Hons) Adult Nursing graduates from two UK nursing programmes.
Taylor, H.R., Bartlett, H.P., Westcott, E., Simonite, V.   +3 more
core   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

The capabilities of nurse educators (CONE) questionnaire: development and evaluation

, 2016
Background: To inspire excellent clinicians to become educators, the role of the nurse educator needs to be more fully defined. Capabilities rather than competencies may better describe advanced professional practice.Objectives: To develop an effective ...
Margaret Mcallister (9817118), Flynn, Trudi, Trudi Flynn (9796562), McAllister, Margaret, RN., McAllister, M, Flynn, Trudi.   +5 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 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

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

Agreement of triage decisions between gastroenterologists and nurses in a hospital endoscopy unit

Clinical and Experimental Gastroenterology, 2018
Stephen Inns,1,2 Jeffrey Wong,1 Dena McPhedran,1 Gladys De Guzman,1 Katherine Broome,1 Dalice Sim,2 Rosemarie Sandford1,† 1Hutt Valley DHB Endoscopy Unit, Hutt Valley DHB, Lower Hutt, Wellington, New Zealand; 2Department of Medicine, Otago ...
Inns S, Wong J, McPhedran D, De Guzman G, Broome K, Sim D, Sandford R   +6 more
doaj