Results 71 to 80 of about 924 (214)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Identifying the Service Requirements for Primary Sexual Assault Medical Care and Forensic Evidence Collection in a Remote First Nations Community

Australian Journal of Social Issues, EarlyView.
ABSTRACT First Nations female sexual assault survivors in remote Northern Territory (NT) face significant barriers accessing place‐based medical care and forensic evidence collection, subsequently requiring evacuation to specialist services. Using decolonising Participatory Action Research methods, this study identified the workforce, training, and ...
Theresa Clasquin, Rachel Dikul Baker, Rosemary Gundjarranbuy, Annie Whybourne, Sue Kildea, Sue Kruske, Elaine Ḻäwurrpa Maypilama, Sarah Ireland   +7 more
wiley   +1 more source

A National Survey of Informal Supporters' Experiences and Views of Behaviour Support Practitioners in the National Disability Insurance Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study examines informal supporters' experiences and views of NDIS behaviour support practitioners, including engagement, information needed to support selection, and perceptions of practitioners' knowledge, skill, and practice. It reports data from a cross‐sectional online survey of 123 informal support providers of participants receiving
Alinka Fisher, David P. Nicoll, Irene Belperio, Maverick Clissold, Aiden Osborne, Russ Fox, Erin Leif, Keith McVilly   +7 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

Blood SOD1 Activity in ALS Patients Receiving Tofersen Treatment

Annals of Neurology, EarlyView.
Objective The antisense oligonucleotide tofersen is the first disease‐modifying drug for SOD1‐related amyotrophic lateral sclerosis (ALS) and was approved because of its ability to reduce SOD1 protein and neurofilament levels. The effect of tofersen on SOD1 activity is unclear but of clinical relevance because homozygous SOD1 mutations, linked to ...
Katharina Goehring, Enya Abler, Jakub Vavra, Kristina Mayer, Johannes Dorst, Zeynep Elmas, Maximilian Wiesenfarth, Lars Richter, Susanne Petri, Martin Regensburger, Peter Reilich, Bogdan Bjelica, Rea Lumi, Patrick Süß, Hayrettin Tumani, Markus Otto, Jochen H. Weishaupt, Albert C. Ludolph, Patrick Oeckl   +18 more
wiley   +1 more source

Cognition and expectation about the role of nurse practitioner among hematology clinicians:a qualitative study

Huli yanjiu
ObjectiveTo explore the cognition and expectation about the role of nurse practitioner among hematology clinicians,and to provide reference for post setting and practice content design of nurse practitioner in hematology department.MethodsBased on the ...
LIU Lingyu, YAN Tingting, LI Xiaobin, GUO Jinli, GUO Jianli, WEI Wei, LI Mingzi   +6 more
doaj  

Development and validation of a questionnaire measuring healthcare professionals’ individual perceptions of advanced practice nurses’ contributions to team functioning: a modified international Delphi approach

International Journal of Nursing Studies Advances
Objective: To develop, and to face and content validate a questionnaire that measures healthcare professionals' individual perceptions of advanced practice nurses' contributions to team functioning. Design: A three-phase approach including a rapid review,
Tim Hubo, Karolien D'Hollander, Lise-Marie Kinnaer, Pauline Boeckxstaens, Elsie Decoene, Kelley Kilpatrick, Ann Van Hecke   +6 more
doaj   +1 more source

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

A Pragmatic Trial of a Shared Decision‐Making Intervention to Improve Medication Adherence and Outcomes in Systemic Lupus Erythematosus: The HCQ‐SAFE Study

Arthritis &Rheumatology, EarlyView.
Objective Hydroxychloroquine (HCQ) nonadherence in systemic lupus erythematosus (SLE) stemming from decision complexities can be improved with shared decision‐making (SDM) tools clarifying benefits and harms. This study aimed to develop and evaluate HCQ‐SAFE, a pictogram‐based SDM tool during SLE visits.
Caroline Packee, Jay J. Patel, Jessica Kent, Betty Chewning, Sancia Ferguson, Patricia Tellez‐Giron, David Gazeley, Christie M. Bartels, Shivani Garg   +8 more
wiley   +1 more source