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Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?
Appl Health Econ Health Policy
December 2024
Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada.
Background: Patients with suspected rare diseases often experience lengthy and uncertain diagnostic pathways. This study aimed to estimate the cost-effectiveness of exome sequencing (ES) in different positions in the diagnostic pathway for patients suspected of having a rare genetic disease.
Methods: Data collected retrospectively from 305 patients suspected of having a rare genetic disease (RGD), who received clinical-grade ES and participated in the Canadian multicentre Care4Rare-SOLVE study, informed a discrete event simulation of the diagnostic pathway.
Clinical trial eligibility in PSP: Population representativeness and potential criteria adjustment based on PSP-NET findings.
Parkinsonism Relat Disord
February 2025
Neurology Unit and Neurobiorepository and Laboratory of Advanced Biological Markers, Department of Clinical and Experimental Sciences, University of Brescia, And Department of Continuity of Care and Frailty, ASST Spedali Civili Brescia Hospital, Brescia, Italy.
Background: Progressive Supranuclear Palsy (PSP) is a rare, heterogeneous neurodegenerative disease for which no treatment is currently available. In the context of clinical trials, the representativeness of the included patients is crucial for the generalizability of the results. Herein, we present results from a multicenter perspective study to identify the most restrictive criteria for patient selection and to assess the representativeness of eligible patients.
View Article and Find Full Text PDFRange extension of the Mexican-endemic killifish Profundulus chimalapensis (Cyprinodontiformes: Profundulidae), with comments on its phylogenetic placement and possible intergeneric hybridization with Tlaloc Álvarez & Carranza 1951.
Zootaxa
November 2024
Instituto de Ciencias Biológicas; Universidad de Ciencias y Artes de Chiapas; Libramiento Norte Poniente 1150; Col. Lajas Maciel; Tuxtla Gutiérrez 29039 Chiapas; México.
Recent ichthyological surveys in southern Mexico resulted in the unexpected discovery of populations of P. chimalapensis outside its distribution range, broadening its extent of occurrence to a total of three river basins (Coatzacoalcos [original], Grijalva, Ostuta) and two versants (Atlantic [original] and Pacific). The taxonomic nature of these populations was further investigated using comparative genetic data in a phylogenetic framework.
View Article and Find Full Text PDFNew Frontiers for Orbital Atherectomy-Crossing an Uncrossable Chronic Total Occlusion.
Catheter Cardiovasc Interv
January 2025
Department of Cardiology, Kettering General Hospital, Interventional Cardiologist, Kettering, Northamptonshire, UK.
Article Synopsis
- Managing chronic total occlusions (CTOs) in coronary artery disease is challenging, particularly when standard techniques don't work on lesions that are difficult to cross.
- A 62-year-old male patient with exertional chest pain had multiple conventional treatments fail to address a CTO in his right coronary artery, highlighting the difficulty of these types of lesions.
- The use of orbital atherectomy with the DiamondBack 360 system finally allowed successful treatment by crossing the CTO, showcasing its potential as a valuable option for complex cases where traditional methods have failed.
Adaptive vs. Conventional Deep Brain Stimulation: One-Year Subthalamic Recordings and Clinical Monitoring in a Patient with Parkinson's Disease.
Bioengineering (Basel)
September 2024
Parkinson Institute of Milan, ASST G.Pini-CTO, 20126 Milano, Italy.
Conventional DBS (cDBS) for Parkinson's disease uses constant, predefined stimulation parameters, while the currently available adaptive DBS (aDBS) provides the possibility of adjusting current amplitude with respect to subthalamic activity in the beta band (13-30 Hz). This preliminary study on one patient aims to describe how these two stimulation modes affect basal ganglia dynamics and, thus, behavior in the long term. We collected clinical data (UPDRS-III and -IV) and subthalamic recordings of one patient with Parkinson's disease treated for one year with aDBS, alternated with short intervals of cDBS.
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