Lack of user acceptance of telemedicine services is an important barrier to deployment and stresses the need for involving users, i.e. medical professionals. However, the involvement of users in the service development process of telemedicine services is difficult because of (a) the knowledge gap between the expertise of medical and technical experts; (b) the language gap, i.e. the use of different terminologies between the medical and the technical professions; and (c) the methodological gap in applying requirement methods to multidisciplinary scientific matters. We have developed a guideline in which the medical and technical domains meet. The guideline can be used to develop a scenario from which requirements can be elicited. In a retrospective analysis of a myofeedback-based teletreatment service, the technically-oriented People-Activities-Context-Technology (PACT) framework and medically-oriented principles of evidence-based medicine were incorporated into a guideline. The guideline was developed to construct the content of a scenario which describes the new teletreatment service. This allows the different stakeholders to come together and develop the service. Our approach provides an arena for different stakeholders to take part in the early stages of the design process. This should increase the chance of user acceptance and thus adoption of the service being developed.
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http://dx.doi.org/10.1258/jtt.2010.006003 | DOI Listing |
Genet Med
December 2024
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.
Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.
Genet Med
December 2024
Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.
Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.
Nurs Open
January 2025
Department of Nursing, Zhongshan Hospital Xiamen University, Xiamen, China.
Aim: We explored demoralisation syndrome among post-operative patients with breast cancer and its relationship with patients' body image and marital intimacy.
Design: A cross-sectional study.
Methods: In this cross-sectional study, 237 patients with breast cancer who were hospitalised in the breast surgery department of Grade A tertiary hospital in Xiamen, China from June 2022 to December 2023 and met the standards of adaxation were selected by the convenience sampling method.
Expert Opin Ther Pat
December 2024
Key Laboratory of Structure-Based Drugs Design & Discovery of Ministry of Education, School of Pharmaceutical Engineering, Shenyang Pharmaceutical University, Shenyang, China.
Introduction: Xanthine oxidase (XO) catalyzes the oxidation of both hypoxanthine and xanthine in the last two steps of the purine metabolic pathway, serving as a rate-limiting enzyme for uric acid production as well as a key target for the treatment of gout and other hyperuricemia-related conditions.
Areas Covered: This paper reviews XO inhibitors in patents from 2021 to the present. We summarize in detail the structural classes and characteristics, in vitro and in vivo biological results, and structure‒activity relationships of synthetic inhibitors, as well as the sources, specific structures, research methods, and biological activities of XO inhibitors from natural products.
Int J Gynaecol Obstet
December 2024
Department of Obstetrics and Gynecology, Nord Hospital, APHM, Chemin Des Bourrely, Marseille, France.
Objective: This study investigates whether early gestational age (GA) at delivery is associated with an increased risk for severe maternal morbidity (SMM) in women with preterm delivery.
Methods: This retrospective national cohort study based on the Programme de Médicalisation des Systèmes d'Information database included mothers who gave birth between 22 and 37 weeks in metropolitan France in 2019 (in utero deaths and medical terminations of pregnancies were excluded). SMM was defined as a composite criterion consisting of the occurrence of at least one of the following events: death, severe preeclampsia, obstetric surgical complications, severe maternal diseases, and admission to the intensive care unit.
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