Results 101 to 110 of about 391,050 (289)

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Addressing out‐of‐hospital cardiac arrest with current technology advances: Breaking the deadlock with a mobile network

Journal of Arrhythmia
Out‐of‐hospital cardiac arrest (OHCA) is a global public health problem, with survival rates remaining low at around 10% or less despite widespread cardiopulmonary resuscitation (CPR) training and availability of automated external defibrillators (AEDs).
Meiso Hayashi, Yu‐ki Iwasaki
doaj   +1 more source

Designing community care systems with AUML [PDF]

, 2003
This paper describes an approach to developing an appropriate agent environment appropriate for use in community care applications. Key to its success is that software designers collaborate with environment builders to provide the levels of cooperation ...
Beer, M., Hill, R., Huang, W.
core  

Outcomes from a Novel Approach to Studying Consumer Genetic Testing for Germline Cancer and Cardiovascular Risk

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the growing availability of consumer genetic testing for serious disease risks, outcomes data remain limited for individuals undergoing testing for high‐ and moderate‐penetrance genes. To address this gap, we evaluated the feasibility of the Consumer Genetic Testing Outcomes Evaluation Paradigm (CGT‐OEP), a novel approach for studying ...
Madison K. Kilbride, Daniel Chavez‐Yenter, Bob Wong, J. Scott Roberts, Jacqueline Park, Jason Iuliano, Angela R. Bradbury   +6 more
wiley   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

Ready or Not? Protecting the Public's Health From Diseases, Disasters, and Bioterrorism, 2008 [PDF]

, 2008
Examines ten indicators to assess progress in state readiness to respond to bioterrorism and other public health emergencies. Evaluates the federal government's and hospitals' preparedness.
Jeffrey Levi, Laura M. Segal, Rebecca St. Laurent, Serena Vinter   +3 more
core   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Electronically Assisting Communication for Health Professionals [PDF]

, 2001
New information and computing technologies offer cost efficient and effective learning opportunities for health care professionals. The Assisted Electronic Communication project is prototyping, administering and evaluating a digital discourse system for ...
Brooks, Fiona, Macintyre, Maria, Quick, Kevin, Scott, Peter   +3 more
core  

Supporting the Recovery of NDIS Participants With Psychosocial Disability: A Narrative Literature Review

Australian Journal of Social Issues, EarlyView.
ABSTRACT This narrative literature review examines key issues surrounding psychosocial disability support in the National Disability Insurance Scheme (NDIS). It highlights the NDIS's neoliberal approach to support, which has underpinned a lack of clarity around the conceptualisation of psychosocial disability and recovery.
Johnny Choi, Kathy Ellem, John Drayton
wiley   +1 more source