Providing a suitable rehabilitation after an acute episode or a chronic disease helps people to live independently and enhance their quality of life. However, the continuity of care is often interrupted in the transition from hospital to home. Virtual coaches (VCs) could help these patients to engage in personalized home rehabilitation programs. These coaching systems need also to be fed with procedural precepts in order to work as intended. This, in turn, relates both to properly represent the clinical knowledge (as the VC somehow replaces the formal caregivers that cannot be fully present) as well guide the patient correctly (in order to follow the medically desired procedures given the need for personalisation according to individual needs). Therefore, we outline our technical approach to deal with this. In particular, clinical pathways in terms of semi-formal procedure models in combination with machine learning components processing and powerful user interfaces providing these pathway information and feeding the VC are presented. The system is currently under testing in a participatory design phase called Living Lab. Thus, initial user feedback for further improvements is about to come.
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http://dx.doi.org/10.3233/SHTI210235 | DOI Listing |
HGG Adv
January 2025
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Inherited genetics represents an important contributor to risk of esophageal adenocarcinoma (EAC), and its precursor Barrett's esophagus (BE). Genome-wide association studies have identified ∼30 susceptibility variants for BE/EAC, yet genetic interactions remain unexamined. To address challenges in large-scale G×G scans, we combined knowledge-guided filtering and machine learning approaches, focusing on genes with (A) known/plausible links to BE/EAC pathogenesis (n=493) or (B) prior evidence of biological interactions (n=4,196).
View Article and Find Full Text PDFEur J Hum Genet
January 2025
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
People from refugee and migrant backgrounds often face poor experiences and outcomes in healthcare, and genetic healthcare is no exception. Understanding whether and how these health inequities manifest is an important step towards equitable perinatal genetic screening for genetic or chromosomal conditions (offered preconception, prenatally, or during the newborn period). A scoping review was conducted to review international evidence of perceptions and experiences of perinatal genetic screening for people from migrant and refugee backgrounds.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFInt J Comput Assist Radiol Surg
January 2025
Faculty of Computer Science and Research Campus STIMULATE, Otto-von-Guericke University of Magdeburg, Magdeburg, Germany.
Purpose: Structured abdominal examination is an essential part of the medical curriculum and surgical training, requiring a blend of theory and practice from trainees. Current training methods, however, often do not provide adequate engagement, fail to address individual learning needs or do not cover rare diseases.
Methods: In this work, an application for structured Abdominal Examination Training using Augmented Reality (AETAR) is presented.
Cardiooncology
January 2025
ProCardio Center for Innovation, Department of Cardiology, Oslo University Hospital, Oslo, Norway.
Background: Although anthracycline-related cardiotoxicity is widely studied, only a limited number of echocardiographic studies have assessed cardiac function in breast cancer survivors (BCSs) beyond ten years from anthracycline treatment, and the knowledge of long-term cardiorespiratory fitness (CRF) in this population is scarce. This study aimed to compare CRF assessed as peak oxygen uptake (V̇O), cardiac morphology and function, and cardiovascular (CV) risk factors between long-term BCSs treated with anthracyclines and controls with no history of cancer.
Methods: The CAUSE (Cardiovascular Survivors Exercise) trial included 140 BCSs recruited through the Cancer Registry of Norway, who were diagnosed with breast cancer stage II to III between 2008 and 2012 and had received treatment with epirubicin, and 69 similarly aged activity level-matched controls.
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