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Background: The relationship between genotype and phenotypical vascular and cardiac properties in paediatric Loeys-Dietz syndrome (LDS) patients are not well characterized. This study explores the phenotypical differences in aortic properties and cardiac structural and functional parameters between paediatric LDS patients with TGFBR1 and TGFBR2 mutations. Methods: We included 32 LDS patients with either TGFBR1 (n = 17) or TGFBR2 (n = 15) mutations. Echocardiographic data included aortic dimensions, distensibility, strain, and stiffness at the level of the annulus, sinuses of Valsalva, sinotubular junction, ascending aorta, and descending aorta. Parameters for left ventricular size and function were also recorded. Results: Demographics were similar between the groups. Patients with TGFBR2 were more likely to have undergone aortic surgery (47% vs 12%, P = 0.057) and use angiotensin receptor blockers (93% vs 47%, P = 0.015). Aortic z scores were significantly larger in the TGFBR2 group at the level of the aortic valve annulus (P = 0.007), sinuses of Valsalva (P = 0.001), sinotubular junction (P = 0.001), and ascending aorta (P = 0.054). Patients with TGFBR2 also had significantly lower aortic distensibility and strain coupled with higher stiffness index at the level of the annulus, sinotubular junction, and ascending aorta. Parameters for the descending aorta, cardiac morphology, and cardiac function were similar between the groups. Conclusions: Paediatric LDS patients with TGFBR2 present with more severe cardiovascular phenotypes than patients with TGFBR1 with larger aortic dimensions and increased aortic stiffness. Our findings suggest that genotypes should be taken into consideration in the clinical management of paediatric LDS patients.
Contexte: Les liens entre le génotype des enfants atteints du syndrome de Loeys-Dietz (SLD) et les particularités phénotypiques vasculaires et cardiaques n'ont pas encore été bien caractérisés. La présente étude vise à explorer les différences phénotypiques entre les propriétés de l'aorte et les paramètres cardiaques structuraux et fonctionnels des enfants atteints du SLD qui présentent une mutation du gène TGFBR1 et ceux qui présentent une mutation du gène TGFBR2. Méthodologie: Nous avons inclus dans notre analyse 32 patients atteints du SLD présentant une mutation de TGFBR1 (n = 17) ou de TGFBR2 (n = 15). Les données échocardiographiques colligées incluaient les dimensions de l'aorte, sa distensibilité, sa déformation (strain) et sa rigidité au niveau de l'anneau aortique, des sinus de Valsalva, de la jonction sinotubulaire, de l'aorte ascendante et de l'aorte descendante. Les paramètres ayant trait à la taille et à la fonction du ventricule gauche ont également été consignés. Résultats: Les caractéristiques démographiques étaient comparables dans les deux groupes. Les patients présentant une mutation du gène TGFBR2 étaient plus susceptibles d'avoir subi une intervention chirurgicale de l'aorte (47 % vs 12 %, p = 0,057) et de prendre un antagoniste des récepteurs de l'angiotensine (93 % vs 47 %, p = 0,015). Les scores z aortiques étaient significativement plus élevés chez les patients présentant une mutation de TGFBR2 pour les dimensions de l'anneau de la valve aortique (p = 0,007), des sinus of Valsalva (p = 0,001), de la jonction sinotubulaire (p = 0,001) et de l'aorte ascendante (p = 0,054). Les patients avec une mutation de TGFBR2 présentaient aussi une élasticité et une déformation aortiques significativement plus faibles ainsi qu'une rigidité accrue au niveau de l'anneau aortique, de la jonction sinotubulaire et de l'aorte ascendante. Les paramètres de l'aorte descendante, les caractéristiques morphologiques cardiaques et la fonction cardiaque étaient comparables pour les deux groupes. Conclusions: Chez les enfants atteints du SLD, une mutation du gène TGFBR2 se traduisait par des phénotypes plus défavorables que dans le cas d'une mutation du gène TGFBR1 et se caractérisait par des dimensions et une rigidité aortiques accrues. Nos observations indiquent qu'il convient de prendre le génotype des patients en considération lors de la prise en charge clinique des enfants atteints du SLD.
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BACKGROUND: Clinician-patient communication is an integral component in providing quality medical care. However, research on clinician-patient communication has shown overall patient discontent with provider communication skills. While virtual reality (VR) is readily used for procedural-based learning in medical education, its potential for teaching patient-facing communication skills remains unexplored. This scoping review aims to evaluate the effectiveness and feasibility of VR applications used for patient-facing communication skills development in medical education. OBJECTIVE: The primary objective is to synthesize and evaluate the effectiveness of available VR tools and applications used for patient-facing communication skills development in medical education. The secondary objectives are to (1) assess the feasibility of adapting VR applications to develop patient-facing communication skills in medical education and (2) provide an overview of the challenges associated with adapting VR applications to develop patient-facing communication skills in medical education. METHODS: A total of 4 electronic databases (ERIC, Embase, PubMed, and MEDLINE) were searched for primary peer-reviewed articles published through April 11, 2023. Articles evaluating the implementation of non-, semi-, and fully immersive VR training for patient- or caregiver-facing communication skills training provided to graduate, medical, or other allied health care professions students were included. Studies that assessed augmented reality, mixed reality, artificial intelligence, or VR for non-communication-based training were excluded. Study selection will include a title, abstract, and full-text screening by 4 authors. Data from eligible studies will be extracted and entered into a database and presented in tabular format. Findings will be reported according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines for scoping reviews. RESULTS: As of April 11, 2023, the search strategy has been confirmed and the search has been completed. We are currently at the title and abstract screening stage. Once complete, the articles will undergo full-text screening according to eligibility criteria as described in the methods. CONCLUSIONS: The findings of this review will inform the development of a graduate-level clinical skills research course within the Institute of Medical Science graduate department at the University of Toronto. It is also expected that these findings will be of interest to other health care-specific faculties inside and beyond our institution. Further, our scoping review will summarize the limited field of literature on VR use in medical communications training and identify areas for future inquiry. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/53901.